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Gene: USP53 (ubiquitin specific peptidase 53) Homo sapiens

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Symbol:

USP53

Name:

ubiquitin specific peptidase 53

RGD ID:

1315332

HGNC Page

HGNC:29255

Description:

Enables K63-linked deubiquitinase activity. Predicted to be involved in response to auditory stimulus and sensory perception of sound. Predicted to act upstream of or within action potential; epithelial cell apoptotic process; and outer hair cell apoptotic process. Located in bicellular tight junction. Implicated in progressive familial intrahepatic cholestasis.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

DKFZp781E1417; inactive ubiquitin carboxyl-terminal hydrolase 53; inactive ubiquitin-specific peptidase 53; PFIC7; ubiquitin specific protease 53; ubiquitin specific proteinase 53

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Usp53 (ubiquitin specific peptidase 53)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Usp53 (ubiquitin specific peptidase 53)	HGNC	Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther
Chinchilla lanigera (long-tailed chinchilla):	Usp53 (ubiquitin specific peptidase 53)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	USP53 (ubiquitin specific peptidase 53)	NCBI	Ortholog
Canis lupus familiaris (dog):	USP53 (ubiquitin specific peptidase 53)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Usp53 (ubiquitin specific peptidase 53)	NCBI	Ortholog
Sus scrofa (pig):	USP53 (ubiquitin specific peptidase 53)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	USP53 (ubiquitin specific peptidase 53)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Usp53 (ubiquitin specific peptidase 53)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Usp53 (ubiquitin specific peptidase 53)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	usp53b (ubiquitin specific peptidase 53b)	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PhylomeDB\|ZFIN)
Drosophila melanogaster (fruit fly):	ec	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PANTHER)
Xenopus tropicalis (tropical clawed frog):	usp53	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	usp53.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	usp53.S	Alliance	DIOPT (Xenbase)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	4	119,212,601 - 119,295,518 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	4	119,212,587 - 119,295,518 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	4	120,133,868 - 120,216,673 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	4	120,353,230 - 120,436,121 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	4	117,495,374 - 117,578,263 (+)	NCBI		Celera
Cytogenetic Map	4	q26	NCBI
HuRef	4	115,855,506 - 115,938,506 (+)	NCBI		HuRef
CHM1_1	4	120,110,269 - 120,193,235 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	4	122,517,672 - 122,600,620 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
USP53	Human	cholestasis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cholestasis	ClinVar	PMID:25741868 and PMID:34608165
USP53	Human	cholestasis		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Cholestasis	ClinVar	PMID:25741868 and PMID:32124521
USP53	Human	cholestasis		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Cholestasis	ClinVar	PMID:25741868
USP53	Human	cholestasis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cholestasis	ClinVar	PMID:25741868 more ...
USP53	Human	genetic disease		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868
USP53	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532
USP53	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868 more ...
USP53	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
USP53	Human	Neurodevelopmental Disorders		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Neurodevelopmental disorder	ClinVar	PMID:25741868
USP53	Human	primary ovarian insufficiency		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Premature ovarian insufficiency	ClinVar	PMID:25741868 and PMID:28492532
USP53	Human	progressive familial intrahepatic cholestasis 4		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cholestasis more ...	ClinVar	PMID:25741868 more ...
USP53	Human	Progressive Familial Intrahepatic Cholestasis 7		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Cholestasis more ...	ClinVar
USP53	Human	Progressive Familial Intrahepatic Cholestasis 7		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Cholestasis more ...	ClinVar	PMID:25741868 more ...
USP53	Human	Progressive Familial Intrahepatic Cholestasis 7		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Cholestasis more ...	ClinVar	PMID:25741868 and PMID:32124521
USP53	Human	Progressive Familial Intrahepatic Cholestasis 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cholestasis more ...	ClinVar	PMID:25741868 more ...
USP53	Human	Progressive Familial Intrahepatic Cholestasis 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cholestasis more ...	ClinVar	PMID:17576681 more ...
USP53	Human	Progressive Familial Intrahepatic Cholestasis 7		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: USP53-related condition	ClinVar	PMID:28492532
USP53	Human	Progressive Familial Intrahepatic Cholestasis 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cholestasis more ...	ClinVar	PMID:25741868 and PMID:34608165
USP53	Human	Progressive Familial Intrahepatic Cholestasis 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cholestasis more ...	ClinVar	PMID:25741868 and PMID:33075013
USP53	Human	Progressive Familial Intrahepatic Cholestasis 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cholestasis more ...	ClinVar	PMID:33075013
USP53	Human	Progressive Familial Intrahepatic Cholestasis 7		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:25741868
USP53	Human	Progressive Familial Intrahepatic Cholestasis 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cholestasis more ...	ClinVar	PMID:25741868 and PMID:32759993
USP53	Human	Progressive Familial Intrahepatic Cholestasis 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cholestasis more ...	ClinVar	PMID:25741868 and PMID:30250217

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
USP53	Human	Progressive Familial Intrahepatic Cholestasis 7		IAGP		7240710		OMIM

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
USP53	Human	(1->4)-beta-D-glucan	multiple interactions	ISO	Usp53 (Mus musculus)	6480464	[perfluorooctane sulfonic acid co-treated with Cellulose] results in decreased expression of USP53 mRNA	CTD	PMID:36331819
USP53	Human	1,2-dimethylhydrazine	decreases expression	ISO	Usp53 (Mus musculus)	6480464	1 and 2-Dimethylhydrazine results in decreased expression of USP53 mRNA	CTD	PMID:22206623
USP53	Human	2,2',4,4'-Tetrabromodiphenyl ether	increases expression	EXP		6480464	2 more ...	CTD	PMID:31173147
USP53	Human	2,2',5,5'-tetrachlorobiphenyl	decreases expression	EXP		6480464	2 more ...	CTD	PMID:36804509
USP53	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	EXP		6480464	Tetrachlorodibenzodioxin results in decreased expression of USP53 mRNA	CTD	PMID:20106945
USP53	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	Usp53 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in increased expression of USP53 mRNA	CTD	PMID:33387578
USP53	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	EXP		6480464	Tetrachlorodibenzodioxin affects the expression of USP53 mRNA	CTD	PMID:22574217
USP53	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Usp53 (Mus musculus)	6480464	Tetrachlorodibenzodioxin affects the expression of USP53 mRNA	CTD	PMID:21570461 and PMID:28213091
USP53	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	Usp53 (Mus musculus)	6480464	Tetrachlorodibenzodioxin results in increased expression of USP53 mRNA	CTD	PMID:18691609
USP53	Human	3,4-methylenedioxymethamphetamine	decreases expression	ISO	Usp53 (Mus musculus)	6480464	N-Methyl-3 and 4-methylenedioxyamphetamine results in decreased expression of USP53 mRNA	CTD	PMID:26251327
USP53	Human	3-isobutyl-1-methyl-7H-xanthine	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of USP53 mRNA and [INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol S] results in increased expression of USP53 mRNA	CTD	PMID:28628672
USP53	Human	4,4'-diaminodiphenylmethane	decreases expression	ISO	Usp53 (Rattus norvegicus)	6480464	4 and 4'-diaminodiphenylmethane results in decreased expression of USP53 mRNA	CTD	PMID:30723492
USP53	Human	4,4'-sulfonyldiphenol	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol S] results in increased expression of USP53 mRNA	CTD	PMID:28628672
USP53	Human	4,4'-sulfonyldiphenol	increases expression	ISO	Usp53 (Mus musculus)	6480464	bisphenol S results in increased expression of USP53 mRNA	CTD	PMID:30951980 and PMID:39298647
USP53	Human	4-hydroxyphenyl retinamide	increases expression	ISO	Usp53 (Mus musculus)	6480464	Fenretinide results in increased expression of USP53 mRNA	CTD	PMID:28973697
USP53	Human	acrylamide	increases expression	ISO	Usp53 (Rattus norvegicus)	6480464	Acrylamide results in increased expression of USP53 mRNA	CTD	PMID:28959563
USP53	Human	aflatoxin B1	decreases methylation	EXP		6480464	Aflatoxin B1 results in decreased methylation of USP53 gene	CTD	PMID:27153756
USP53	Human	all-trans-retinoic acid	increases expression	EXP		6480464	Tretinoin results in increased expression of USP53 mRNA	CTD	PMID:21934132
USP53	Human	arsenite(3-)	multiple interactions	EXP		6480464	arsenite inhibits the reaction [G3BP1 protein binds to USP53 mRNA]	CTD	PMID:32406909
USP53	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of USP53 promoter	CTD	PMID:27901495
USP53	Human	bisphenol A	affects expression	ISO	Usp53 (Rattus norvegicus)	6480464	bisphenol A affects the expression of USP53 mRNA	CTD	PMID:25181051
USP53	Human	bisphenol A	decreases methylation	EXP		6480464	bisphenol A results in decreased methylation of USP53 gene	CTD	PMID:31601247
USP53	Human	bisphenol A	increases expression	ISO	Usp53 (Rattus norvegicus)	6480464	bisphenol A results in increased expression of USP53 mRNA	CTD	PMID:33296240
USP53	Human	bisphenol A	decreases expression	EXP		6480464	bisphenol A results in decreased expression of USP53 mRNA	CTD	PMID:29275510
USP53	Human	bisphenol A	increases methylation	ISO	Usp53 (Rattus norvegicus)	6480464	bisphenol A results in increased methylation of USP53 gene	CTD	PMID:28505145
USP53	Human	bisphenol A	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of USP53 mRNA	CTD	PMID:28628672
USP53	Human	bisphenol F	increases expression	ISO	Usp53 (Mus musculus)	6480464	bisphenol F results in increased expression of USP53 mRNA	CTD	PMID:30951980 and PMID:38685157
USP53	Human	bortezomib	increases expression	EXP		6480464	Bortezomib results in increased expression of USP53 mRNA	CTD	PMID:20977926
USP53	Human	cadmium atom	multiple interactions	ISO	Usp53 (Mus musculus)	6480464	[Cadmium Chloride results in increased abundance of Cadmium] which results in increased expression of USP53 mRNA	CTD	PMID:37325564
USP53	Human	cadmium dichloride	multiple interactions	ISO	Usp53 (Mus musculus)	6480464	[Cadmium Chloride results in increased abundance of Cadmium] which results in increased expression of USP53 mRNA	CTD	PMID:37325564
USP53	Human	calcitriol	increases expression	EXP		6480464	Calcitriol results in increased expression of USP53 mRNA	CTD	PMID:26485663
USP53	Human	carbamazepine	affects expression	EXP		6480464	Carbamazepine affects the expression of USP53 mRNA	CTD	PMID:25979313
USP53	Human	CGP 52608	multiple interactions	EXP		6480464	CGP 52608 promotes the reaction [RORA protein binds to USP53 gene]	CTD	PMID:28238834
USP53	Human	chlorpyrifos	decreases expression	ISO	Usp53 (Mus musculus)	6480464	Chlorpyrifos results in decreased expression of USP53 mRNA	CTD	PMID:37019170
USP53	Human	choline	multiple interactions	ISO	Usp53 (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of USP53 gene	CTD	PMID:20938992
USP53	Human	cisplatin	increases expression	EXP		6480464	Cisplatin results in increased expression of USP53 mRNA	CTD	PMID:27594783
USP53	Human	cisplatin	decreases expression	EXP		6480464	Cisplatin results in decreased expression of USP53 mRNA	CTD	PMID:27392435
USP53	Human	cisplatin	multiple interactions	EXP		6480464	[Cisplatin co-treated with jinfukang] results in decreased expression of USP53 mRNA	CTD	PMID:27392435
USP53	Human	copper atom	multiple interactions	EXP		6480464	[NSC 689534 binds to Copper] which results in increased expression of USP53 mRNA	CTD	PMID:20971185
USP53	Human	copper(0)	multiple interactions	EXP		6480464	[NSC 689534 binds to Copper] which results in increased expression of USP53 mRNA	CTD	PMID:20971185
USP53	Human	Cuprizon	increases expression	ISO	Usp53 (Rattus norvegicus)	6480464	Cuprizone results in increased expression of USP53 mRNA	CTD	PMID:27523638
USP53	Human	dexamethasone	increases expression	EXP		6480464	Dexamethasone results in increased expression of USP53 mRNA	CTD	PMID:25047013
USP53	Human	dexamethasone	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of USP53 mRNA and [INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol S] results in increased expression of USP53 mRNA	CTD	PMID:28628672
USP53	Human	diallyl trisulfide	increases expression	EXP		6480464	diallyl trisulfide results in increased expression of USP53 mRNA	CTD	PMID:34995734
USP53	Human	dibutyl phthalate	increases expression	ISO	Usp53 (Mus musculus)	6480464	Dibutyl Phthalate results in increased expression of USP53 mRNA	CTD	PMID:21266533
USP53	Human	dicrotophos	decreases expression	EXP		6480464	dicrotophos results in decreased expression of USP53 mRNA	CTD	PMID:28302478
USP53	Human	dioxygen	increases expression	ISO	Usp53 (Mus musculus)	6480464	Oxygen deficiency results in increased expression of USP53 mRNA	CTD	PMID:20880076
USP53	Human	ethanol	multiple interactions	EXP		6480464	[Ethanol co-treated with Folic Acid] results in increased expression of USP53 mRNA	CTD	PMID:23378141
USP53	Human	ethanol	affects expression	ISO	Usp53 (Mus musculus)	6480464	Ethanol affects the expression of USP53 mRNA	CTD	PMID:30319688
USP53	Human	ethanol	increases expression	ISO	Usp53 (Mus musculus)	6480464	Ethanol results in increased expression of USP53 mRNA	CTD	PMID:30319688
USP53	Human	fluoranthene	multiple interactions	ISO	Usp53 (Mus musculus)	6480464	[1-methylanthracene co-treated with fluoranthene] results in increased expression of USP53 mRNA	CTD	PMID:28329830
USP53	Human	folic acid	affects expression	EXP		6480464	Folic Acid affects the expression of USP53 mRNA	CTD	PMID:17320366
USP53	Human	folic acid	multiple interactions	EXP		6480464	[Ethanol co-treated with Folic Acid] results in increased expression of USP53 mRNA	CTD	PMID:23378141
USP53	Human	folic acid	multiple interactions	ISO	Usp53 (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of USP53 gene	CTD	PMID:20938992
USP53	Human	formaldehyde	increases expression	EXP		6480464	Formaldehyde results in increased expression of USP53 mRNA	CTD	PMID:20655997
USP53	Human	gentamycin	increases expression	ISO	Usp53 (Rattus norvegicus)	6480464	Gentamicins results in increased expression of USP53 mRNA	CTD	PMID:33387578
USP53	Human	GSK-J4	increases expression	EXP		6480464	GSK-J4 results in increased expression of USP53 mRNA	CTD	PMID:29301935
USP53	Human	indometacin	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of USP53 mRNA and [INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol S] results in increased expression of USP53 mRNA	CTD	PMID:28628672
USP53	Human	L-methionine	multiple interactions	ISO	Usp53 (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of USP53 gene	CTD	PMID:20938992
USP53	Human	melphalan	decreases expression	EXP		6480464	Melphalan results in decreased expression of USP53 mRNA	CTD	PMID:22363485
USP53	Human	mercury atom	decreases expression	ISO	Usp53 (Mus musculus)	6480464	Mercury analog results in decreased expression of USP53 mRNA	CTD	PMID:25056781
USP53	Human	mercury(0)	decreases expression	ISO	Usp53 (Mus musculus)	6480464	Mercury analog results in decreased expression of USP53 mRNA	CTD	PMID:25056781
USP53	Human	methylmercury chloride	decreases expression	EXP		6480464	methylmercuric chloride results in decreased expression of USP53 mRNA	CTD	PMID:23179753 more ...
USP53	Human	paracetamol	increases expression	EXP		6480464	Acetaminophen results in increased expression of USP53 mRNA	CTD	PMID:26690555
USP53	Human	paracetamol	increases expression	ISO	Usp53 (Rattus norvegicus)	6480464	Acetaminophen results in increased expression of USP53 mRNA	CTD	PMID:33387578
USP53	Human	perfluorohexanesulfonic acid	increases expression	ISO	Usp53 (Mus musculus)	6480464	perfluorohexanesulfonic acid results in increased expression of USP53 mRNA	CTD	PMID:37995155
USP53	Human	perfluorooctane-1-sulfonic acid	multiple interactions	ISO	Usp53 (Mus musculus)	6480464	[perfluorooctane sulfonic acid co-treated with Cellulose] results in decreased expression of USP53 mRNA	CTD	PMID:36331819
USP53	Human	phenobarbital	affects expression	ISO	Usp53 (Mus musculus)	6480464	Phenobarbital affects the expression of USP53 mRNA	CTD	PMID:23091169
USP53	Human	progesterone	decreases expression	EXP		6480464	Progesterone results in decreased expression of USP53 mRNA	CTD	PMID:21540246
USP53	Human	silicon dioxide	decreases expression	EXP		6480464	Silicon Dioxide analog results in decreased expression of USP53 mRNA	CTD	PMID:25895662
USP53	Human	sodium arsenite	decreases expression	EXP		6480464	sodium arsenite results in decreased expression of USP53 mRNA	CTD	PMID:34032870
USP53	Human	sodium arsenite	decreases expression	ISO	Usp53 (Mus musculus)	6480464	sodium arsenite results in decreased expression of USP53 mRNA	CTD	PMID:37682722
USP53	Human	testosterone	decreases expression	EXP		6480464	Testosterone results in decreased expression of USP53 mRNA	CTD	PMID:33359661
USP53	Human	tetrachloromethane	increases expression	ISO	Usp53 (Mus musculus)	6480464	Carbon Tetrachloride results in increased expression of USP53 mRNA	CTD	PMID:31919559
USP53	Human	thioacetamide	increases expression	ISO	Usp53 (Rattus norvegicus)	6480464	Thioacetamide results in increased expression of USP53 mRNA	CTD	PMID:23411599 and PMID:34492290
USP53	Human	thiram	increases expression	EXP		6480464	Thiram results in increased expression of USP53 mRNA	CTD	PMID:38568856
USP53	Human	titanium dioxide	decreases methylation	ISO	Usp53 (Mus musculus)	6480464	titanium dioxide results in decreased methylation of USP53 gene and titanium dioxide results in decreased methylation of USP53 promoter	CTD	PMID:35295148
USP53	Human	trichostatin A	increases expression	EXP		6480464	trichostatin A results in increased expression of USP53 mRNA	CTD	PMID:26705709
USP53	Human	triphenyl phosphate	affects expression	EXP		6480464	triphenyl phosphate affects the expression of USP53 mRNA	CTD	PMID:37042841
USP53	Human	triptonide	increases expression	ISO	Usp53 (Mus musculus)	6480464	triptonide results in increased expression of USP53 mRNA	CTD	PMID:33045310
USP53	Human	urethane	increases expression	EXP		6480464	Urethane results in increased expression of USP53 mRNA	CTD	PMID:28818685
USP53	Human	valproic acid	affects expression	ISO	Usp53 (Mus musculus)	6480464	Valproic Acid affects the expression of USP53 mRNA	CTD	PMID:17292431
USP53	Human	valproic acid	increases expression	EXP		6480464	Valproic Acid results in increased expression of USP53 mRNA	CTD	PMID:28001369
USP53	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of USP53 mRNA	CTD	PMID:25979313
USP53	Human	vorinostat	increases expression	EXP		6480464	vorinostat results in increased expression of USP53 mRNA	CTD	PMID:27188386

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
USP53	Human	action potential	acts_upstream_of_or_within	IEA	UniProtKB:P15975 and ensembl:ENSMUSP00000087857	150520179		Ensembl	GO_REF:0000107
USP53	Human	epithelial cell apoptotic process	acts_upstream_of_or_within	IEA	UniProtKB:P15975 and ensembl:ENSMUSP00000087857	150520179		Ensembl	GO_REF:0000107
USP53	Human	neuron apoptotic process	acts_upstream_of_or_within	IEA	UniProtKB:P15975 and ensembl:ENSMUSP00000087857	150520179		Ensembl	GO_REF:0000107
USP53	Human	outer hair cell apoptotic process	acts_upstream_of_or_within	IEA	UniProtKB:P15975 and ensembl:ENSMUSP00000087857	150520179		Ensembl	GO_REF:0000107
USP53	Human	protein deubiquitination	NOT\|acts_upstream_of_or_within	ISO	Usp53 (Mus musculus)	9068941	PMID:26609154	MGI	PMID:26609154
USP53	Human	protein deubiquitination	involved_in	IEA	InterPro:IPR001394	150520179		InterPro	GO_REF:0000002
USP53	Human	response to auditory stimulus	involved_in	IBA	MGI:2139607 and PANTHER:PTN002743584	150520179		GO_Central	GO_REF:0000033
USP53	Human	response to auditory stimulus	acts_upstream_of_or_within	IEA	UniProtKB:P15975 and ensembl:ENSMUSP00000087857	150520179		Ensembl	GO_REF:0000107
USP53	Human	sensory perception of sound	involved_in	IBA	MGI:2139607 and PANTHER:PTN002743584	150520179		GO_Central	GO_REF:0000033
USP53	Human	sensory perception of sound	acts_upstream_of_or_within	IEA	UniProtKB:P15975 and ensembl:ENSMUSP00000087857	150520179		Ensembl	GO_REF:0000107

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
USP53	Human	anchoring junction	located_in	IEA	UniProtKB-KW:KW-0965	150520179		UniProt	GO_REF:0000043
USP53	Human	bicellular tight junction	located_in	IMP		150520179	PMID:32124521	UniProt	PMID:32124521
USP53	Human	bicellular tight junction	located_in	IEA	UniProtKB-SubCell:SL-0265	150520179		UniProt	GO_REF:0000044
USP53	Human	bicellular tight junction	located_in	IEA	UniProtKB-KW:KW-0796	150520179		UniProt	GO_REF:0000043
USP53	Human	cell-cell junction	located_in	IEA	UniProtKB:P15975 and ensembl:ENSMUSP00000087857	150520179		Ensembl	GO_REF:0000107
USP53	Human	cell-cell junction	is_active_in	IBA	MGI:2139607 more ...	150520179		GO_Central	GO_REF:0000033

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
USP53	Human	cysteine-type deubiquitinase activity	NOT\|enables	IDA		150520179	PMID:14715245	UniProt	PMID:14715245
USP53	Human	cysteine-type deubiquitinase activity	enables	IEA	InterPro:IPR001394	150520179		InterPro	GO_REF:0000002
USP53	Human	deubiquitinase activity	NOT\|enables	ISO	Usp53 (Mus musculus)	9068941	PMID:26609154	MGI	PMID:26609154
USP53	Human	K63-linked deubiquitinase activity	enables	IDA		150520179	PMID:39587316	UniProt	PMID:39587316
USP53	Human	protein binding	enables	IPI	UniProtKB:P46108	150520179	PMID:26871637 and PMID:27107012	IntAct	PMID:26871637 and PMID:27107012
USP53	Human	protein binding	enables	IPI	UniProtKB:P46108 more ...	150520179	PMID:32296183	IntAct	PMID:32296183
USP53	Human	protein binding	enables	IPI	UniProtKB:O75553	150520179	PMID:25416956	IntAct	PMID:25416956

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
USP53	Human	Autosomal recessive inheritance		IAGP		8699517		HPO	MIM:619658 and PMID:30250217
USP53	Human	Childhood onset		IAGP		8699517		HPO	MIM:619658 and PMID:33075013
USP53	Human	Cholestasis		IAGP		8699517		HPO	MIM:619658 and PMID:33075013
USP53	Human	Elevated circulating alanine aminotransferase concentration		IAGP		8699517		HPO	MIM:619658 and PMID:30250217
USP53	Human	Elevated circulating alkaline phosphatase concentration		IAGP		8699517		HPO	MIM:619658 and PMID:30250217
USP53	Human	Elevated circulating aspartate aminotransferase concentration		IAGP		8699517		HPO	MIM:619658 and PMID:30250217
USP53	Human	Elevated circulating gamma-aminobutyric acid concentration		IAGP		8699517		HPO	MIM:619658 and PMID:33075013
USP53	Human	Hearing impairment		IAGP		8699517		HPO	MIM:619658 and PMID:30250217
USP53	Human	Hepatic bridging fibrosis		IAGP		8699517		HPO	MIM:619658 and PMID:33075013
USP53	Human	Hepatic fibrosis		IAGP		8699517		HPO	MIM:619658 and PMID:33075013
USP53	Human	Hypocalcemia		IAGP		8699517		HPO	MIM:619658 and PMID:30250217
USP53	Human	Infantile onset		IAGP		8699517		HPO	MIM:619658 more ...
USP53	Human	Jaundice		IAGP		8699517		HPO	MIM:619658 and PMID:33075013
USP53	Human	Juvenile onset		IAGP		8699517		HPO	MIM:619658 and PMID:33075013
USP53	Human	Neonatal onset		IAGP		8699517		HPO	MIM:619658 and PMID:33075013
USP53	Human	Pruritus		IAGP		8699517		HPO	MIM:619658 and PMID:30250217
USP53	Human	Splenomegaly		IAGP		8699517		HPO	MIM:619658 and PMID:33075013

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
USP53	Human	Cholestasis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cholestasis	ClinVar	PMID:25741868 and PMID:32124521
USP53	Human	Cholestasis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cholestasis	ClinVar	PMID:25741868 more ...
USP53	Human	Cholestasis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cholestasis	ClinVar	PMID:25741868
USP53	Human	Cholestasis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cholestasis	ClinVar	PMID:25741868
USP53	Human	Cholestasis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cholestasis	ClinVar	PMID:25741868
USP53	Human	Cholestasis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cholestasis	ClinVar	PMID:25741868
USP53	Human	Cholestasis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cholestasis	ClinVar	PMID:25741868
USP53	Human	Cholestasis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cholestasis	ClinVar	PMID:25741868 and PMID:34608165
USP53	Human	Cholestasis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cholestasis	ClinVar	PMID:25741868 and PMID:32124521
USP53	Human	Premature ovarian insufficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Premature ovarian insufficiency	ClinVar	PMID:25741868 and PMID:28492532
USP53	Human	Premature ovarian insufficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Premature ovarian insufficiency	ClinVar	PMID:25741868 and PMID:28492532
USP53	Human	Premature ovarian insufficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Premature ovarian insufficiency	ClinVar	PMID:25741868 and PMID:28492532

#	Reference Title	Reference Citation
1.	Cloning and enzymatic analysis of 22 novel human ubiquitin-specific proteases.	Quesada V, etal., Biochem Biophys Res Commun 2004 Jan 30;314(1):54-62.
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:10718198	PMID:12477932	PMID:14702039	PMID:15489334	PMID:15851553	PMID:16189514	PMID:16344560	PMID:19615732	PMID:20332099	PMID:20936779	PMID:21873635	PMID:21988832
PMID:23159851	PMID:23322567	PMID:25416956	PMID:26871637	PMID:27107012	PMID:28611215	PMID:28718761	PMID:29117863	PMID:29119051	PMID:29576527	PMID:29669287	PMID:30323974
PMID:30639242	PMID:32124521	PMID:32296183	PMID:32508265	PMID:32511815	PMID:32759993	PMID:33075013	PMID:33664230	PMID:33961781	PMID:33973730	PMID:34079125	PMID:34919659
PMID:35044719	PMID:35654790	PMID:35927303	PMID:36108118	PMID:36239338	PMID:36379255	PMID:36931259	PMID:37499664	PMID:37689310	PMID:38334954	PMID:39587316

USP53
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	4	119,212,601 - 119,295,518 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	4	119,212,587 - 119,295,518 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	4	120,133,868 - 120,216,673 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	4	120,353,230 - 120,436,121 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	4	117,495,374 - 117,578,263 (+)	NCBI		Celera
Cytogenetic Map	4	q26	NCBI
HuRef	4	115,855,506 - 115,938,506 (+)	NCBI		HuRef
CHM1_1	4	120,110,269 - 120,193,235 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	4	122,517,672 - 122,600,620 (+)	NCBI		T2T-CHM13v2.0

Usp53
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	3	122,725,142 - 122,778,184 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	3	122,725,142 - 122,778,159 (-)	Ensembl		GRCm39 Ensembl
GRCm38	3	122,931,486 - 122,984,900 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	3	122,931,493 - 122,984,510 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	3	122,636,519 - 122,687,365 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	3	122,925,623 - 122,976,469 (-)	NCBI		MGSCv36	mm8
Celera	3	129,344,003 - 129,395,480 (-)	NCBI		Celera
Cytogenetic Map	3	G1	NCBI
cM Map	3	53.75	NCBI

Usp53
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	2	213,744,106 - 213,805,619 (-)	NCBI		GRCr8
mRatBN7.2	2	211,059,512 - 211,120,942 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	2	211,059,520 - 211,120,943 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	2	218,737,119 - 218,798,537 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	2	216,644,894 - 216,706,326 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	2	211,491,226 - 211,552,659 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	2	227,098,795 - 227,160,385 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	2	227,098,795 - 227,160,379 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	2	246,460,175 - 246,521,772 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	2	219,620,238 - 219,681,958 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	2	219,585,547 - 219,629,826 (-)	NCBI
Celera	2	203,488,517 - 203,550,236 (-)	NCBI		Celera
Cytogenetic Map	2	q42	NCBI

Usp53
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955428	20,957,807 - 21,023,380 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955428	20,957,807 - 21,023,380 (-)	NCBI	ChiLan1.0	ChiLan1.0

USP53
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	3	116,995,738 - 117,072,253 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	4	117,292,627 - 117,369,139 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	4	111,407,037 - 111,483,541 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	4	121,957,504 - 122,033,818 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	4	121,984,659 - 122,031,531 (+)	Ensembl	panpan1.1		panPan2

USP53
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	32	38,148,120 - 38,213,370 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	32	38,163,790 - 38,211,181 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	32	3,861,879 - 3,927,111 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	32	38,369,269 - 38,434,855 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	32	38,369,244 - 38,434,063 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	32	38,391,722 - 38,456,913 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	32	38,115,130 - 38,180,517 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	32	1,619,003 - 1,684,079 (-)	NCBI		UU_Cfam_GSD_1.0

Usp53
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405301	67,302,621 - 67,341,059 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936869	167,337 - 226,314 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936869	169,118 - 226,495 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

USP53
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	8	104,500,252 - 104,560,513 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	8	104,500,204 - 104,560,711 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	8	112,155,287 - 112,216,729 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

USP53
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	7	66,698,816 - 66,775,650 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	7	66,724,297 - 66,773,354 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666037	45,558,490 - 45,639,801 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants in USP53
166 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	copy number gain	See cases [RCV000051785]	Chr4:118065569..190042639 [GRCh38] Chr4:118986724..190828225 [GRCh37] Chr4:119206172..191200788 [NCBI36] Chr4:4q26-35.2	pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]\|See cases [RCV000051775]	Chr4:92913386..165299707 [GRCh38] Chr4:93834537..166220859 [GRCh37] Chr4:94053560..166440309 [NCBI36] Chr4:4q22.2-32.3	pathogenic
GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	copy number gain	See cases [RCV000051776]	Chr4:96092893..136410207 [GRCh38] Chr4:97014044..137331362 [GRCh37] Chr4:97233067..137550812 [NCBI36] Chr4:4q22.3-28.3	pathogenic
GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	copy number loss	See cases [RCV000053321]	Chr4:116630862..145429900 [GRCh38] Chr4:117552018..146351052 [GRCh37] Chr4:117771466..146570502 [NCBI36] Chr4:4q26-31.21	pathogenic
NM_019050.2(USP53):c.400C>T (p.His134Tyr)	single nucleotide variant	Malignant melanoma [RCV000060904]	Chr4:119256273 [GRCh38] Chr4:120177428 [GRCh37] Chr4:120396876 [NCBI36] Chr4:4q26	not provided
GRCh38/hg38 4q26-27(chr4:118360303-120924156)x1	copy number loss	See cases [RCV000138837]	Chr4:118360303..120924156 [GRCh38] Chr4:119281458..121845311 [GRCh37] Chr4:119500906..122064761 [NCBI36] Chr4:4q26-27	pathogenic
GRCh38/hg38 4q26(chr4:116090996-119545165)x1	copy number loss	See cases [RCV000138236]	Chr4:116090996..119545165 [GRCh38] Chr4:117012152..120466320 [GRCh37] Chr4:117231601..120685768 [NCBI36] Chr4:4q26	likely pathogenic
GRCh38/hg38 4q26(chr4:118858868-119856165)x3	copy number gain	See cases [RCV000139232]	Chr4:118858868..119856165 [GRCh38] Chr4:119780023..120777320 [GRCh37] Chr4:119999471..120996768 [NCBI36] Chr4:4q26	likely benign
GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1	copy number loss	See cases [RCV000143207]	Chr4:117351881..133565667 [GRCh38] Chr4:118273037..134486822 [GRCh37] Chr4:118492485..134706272 [NCBI36] Chr4:4q26-28.3	pathogenic
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	copy number gain	See cases [RCV000240392]	Chr4:119437495..190904301 [GRCh37] Chr4:4q26-35.2	pathogenic
GRCh37/hg19 4q26(chr4:119725199-120205702)x1	copy number loss	not provided [RCV000682452]	Chr4:119725199..120205702 [GRCh37] Chr4:4q26	uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	copy number gain	See cases [RCV000446653]	Chr4:12440..190904441 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	copy number gain	See cases [RCV000510453]	Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	copy number gain	See cases [RCV000511945]	Chr4:109199664..189752726 [GRCh37] Chr4:4q25-35.2	pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	copy number gain	See cases [RCV000510970]	Chr4:93071152..190957473 [GRCh37] Chr4:4q22.1-35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	copy number gain	See cases [RCV000512241]	Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4q26-28.2(chr4:116307857-129302960)x1	copy number loss	not provided [RCV000682448]	Chr4:116307857..129302960 [GRCh37] Chr4:4q26-28.2	pathogenic
GRCh37/hg19 4q26(chr4:117108352-120317108)x1	copy number loss	not provided [RCV000682449]	Chr4:117108352..120317108 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.205C>T (p.Gln69Ter)	single nucleotide variant	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV001808242]	Chr4:119245397 [GRCh38] Chr4:120166552 [GRCh37] Chr4:4q26	likely pathogenic
GRCh37/hg19 4q26(chr4:120003576-120689244)x3	copy number gain	not provided [RCV000682453]	Chr4:120003576..120689244 [GRCh37] Chr4:4q26	likely benign
NM_001371395.1(USP53):c.395A>G (p.His132Arg)	single nucleotide variant	Cholestasis [RCV000856554]	Chr4:119256268 [GRCh38] Chr4:120177423 [GRCh37] Chr4:4q26	likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3	copy number gain	not provided [RCV000743155]	Chr4:49450..190915650 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3	copy number gain	not provided [RCV000743156]	Chr4:49450..190963766 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3	copy number gain	not provided [RCV000743147]	Chr4:11525..191028879 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
NM_001371395.1(USP53):c.237+1G>A	single nucleotide variant	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV003448754]	Chr4:119245430 [GRCh38] Chr4:120166585 [GRCh37] Chr4:4q26	likely pathogenic
NM_001371395.1(USP53):c.570-1G>A	single nucleotide variant	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV003448755]	Chr4:119259819 [GRCh38] Chr4:120180974 [GRCh37] Chr4:4q26	likely pathogenic\|uncertain significance
NM_001371395.1(USP53):c.1849C>T (p.Pro617Ser)	single nucleotide variant	not provided [RCV000879379]	Chr4:119271709 [GRCh38] Chr4:120192864 [GRCh37] Chr4:4q26	likely benign
NM_001371395.1(USP53):c.1012C>T (p.Arg338Ter)	single nucleotide variant	Cholestasis [RCV000856559]\|Cholestasis, progressive familial intrahepatic, (PFIC4-like) [RCV000855541]\|Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV001796277]\|not provided [RCV003768634]	Chr4:119267359 [GRCh38] Chr4:120188514 [GRCh37] Chr4:4q26	pathogenic
NM_001371395.1(USP53):c.569+2T>C	single nucleotide variant	Cholestasis [RCV000856555]	Chr4:119256525 [GRCh38] Chr4:120177680 [GRCh37] Chr4:4q26	pathogenic
Single allele	deletion	Neurodevelopmental disorder [RCV000787448]	Chr4:116624547..126168646 [GRCh37] Chr4:4q26-28.1	likely pathogenic
NM_001371395.1(USP53):c.878G>T (p.Gly293Val)	single nucleotide variant	Cholestasis [RCV000856558]	Chr4:119261770 [GRCh38] Chr4:120182925 [GRCh37] Chr4:4q26	likely pathogenic
NM_001371395.1(USP53):c.583del (p.Arg195fs)	deletion	Cholestasis [RCV000856556]\|Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV001796280]	Chr4:119259831 [GRCh38] Chr4:120180986 [GRCh37] Chr4:4q26	pathogenic
NM_001371395.1(USP53):c.1558C>T (p.Arg520Ter)	single nucleotide variant	Cholestasis [RCV000856561]\|Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV002051902]	Chr4:119271418 [GRCh38] Chr4:120192573 [GRCh37] Chr4:4q26	pathogenic
NM_001371395.1(USP53):c.241A>T (p.Ile81Leu)	single nucleotide variant	not provided [RCV000953212]	Chr4:119248751 [GRCh38] Chr4:120169906 [GRCh37] Chr4:4q26	benign
NM_001371395.1(USP53):c.173G>A (p.Arg58Gln)	single nucleotide variant	Premature ovarian insufficiency [RCV000766148]\|not provided [RCV005092178]	Chr4:119245365 [GRCh38] Chr4:120166520 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.1253G>A (p.Arg418Gln)	single nucleotide variant	Premature ovarian insufficiency [RCV000766149]\|not provided [RCV005092179]	Chr4:119268385 [GRCh38] Chr4:120189540 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.2975T>G (p.Phe992Cys)	single nucleotide variant	Premature ovarian insufficiency [RCV000766151]\|not provided [RCV005092180]	Chr4:119292964 [GRCh38] Chr4:120214119 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.169C>T (p.Arg57Ter)	single nucleotide variant	Cholestasis [RCV000856552]\|Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV001796278]	Chr4:119245361 [GRCh38] Chr4:120166516 [GRCh37] Chr4:4q26	pathogenic
NM_001371395.1(USP53):c.297G>T (p.Arg99Ser)	single nucleotide variant	Cholestasis [RCV000856553]\|Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV001796279]	Chr4:119248807 [GRCh38] Chr4:120169962 [GRCh37] Chr4:4q26	pathogenic
NM_001371395.1(USP53):c.834_835dup (p.Val279fs)	microsatellite	Cholestasis [RCV000856557]	Chr4:119261723..119261724 [GRCh38] Chr4:120182878..120182879 [GRCh37] Chr4:4q26	pathogenic
NM_001371395.1(USP53):c.1426C>T (p.Arg476Ter)	single nucleotide variant	Cholestasis [RCV000856560]\|Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV005225171]	Chr4:119269828 [GRCh38] Chr4:120190983 [GRCh37] Chr4:4q26	pathogenic\|likely pathogenic
GRCh37/hg19 4q26-27(chr4:119902254-121463237)	copy number gain	not specified [RCV002053452]	Chr4:119902254..121463237 [GRCh37] Chr4:4q26-27	uncertain significance
NM_001371395.1(USP53):c.78_79dup (p.Ala27fs)	duplication	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV002283943]	Chr4:119239836..119239837 [GRCh38] Chr4:120160991..120160992 [GRCh37] Chr4:4q26	likely pathogenic
NM_001371395.1(USP53):c.873T>G (p.Leu291=)	single nucleotide variant	not provided [RCV002947465]	Chr4:119261765 [GRCh38] Chr4:120182920 [GRCh37] Chr4:4q26	benign
NM_001371395.1(USP53):c.2210G>A (p.Arg737His)	single nucleotide variant	not provided [RCV002617073]	Chr4:119273667 [GRCh38] Chr4:120194822 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.2918T>G (p.Val973Gly)	single nucleotide variant	not provided [RCV003016407]	Chr4:119292907 [GRCh38] Chr4:120214062 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.2611G>C (p.Gly871Arg)	single nucleotide variant	Inborn genetic diseases [RCV002757934]	Chr4:119292600 [GRCh38] Chr4:120213755 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.108del (p.Gly37fs)	deletion	not provided [RCV002909814]	Chr4:119239867 [GRCh38] Chr4:120161022 [GRCh37] Chr4:4q26	pathogenic
NM_001371395.1(USP53):c.461A>G (p.Lys154Arg)	single nucleotide variant	not provided [RCV002927079]	Chr4:119256334 [GRCh38] Chr4:120177489 [GRCh37] Chr4:4q26	likely benign
NM_001371395.1(USP53):c.311A>C (p.Glu104Ala)	single nucleotide variant	Inborn genetic diseases [RCV002702164]	Chr4:119248821 [GRCh38] Chr4:120169976 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.487-8C>A	single nucleotide variant	not provided [RCV002875620]	Chr4:119256433 [GRCh38] Chr4:120177588 [GRCh37] Chr4:4q26	likely benign
NM_001371395.1(USP53):c.290A>G (p.Asn97Ser)	single nucleotide variant	Inborn genetic diseases [RCV004971997]	Chr4:119248800 [GRCh38] Chr4:120169955 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.9G>A (p.Trp3Ter)	single nucleotide variant	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV005054035]	Chr4:119239768 [GRCh38] Chr4:120160923 [GRCh37] Chr4:4q26	likely pathogenic
GRCh37/hg19 4q26(chr4:120191740-120248879)x1	copy number loss	not provided [RCV001005594]	Chr4:120191740..120248879 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.1171T>G (p.Leu391Val)	single nucleotide variant	Inborn genetic diseases [RCV003270656]	Chr4:119268303 [GRCh38] Chr4:120189458 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.1744C>T (p.Arg582Ter)	single nucleotide variant	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV003988105]\|See cases [RCV003313717]	Chr4:119271604 [GRCh38] Chr4:120192759 [GRCh37] Chr4:4q26	pathogenic\|likely pathogenic
NM_001371395.1(USP53):c.2227C>A (p.Leu743Ile)	single nucleotide variant	not provided [RCV000952865]	Chr4:119273684 [GRCh38] Chr4:120194839 [GRCh37] Chr4:4q26	likely benign
NM_001371395.1(USP53):c.2002G>A (p.Gly668Ser)	single nucleotide variant	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV002472038]\|not provided [RCV002571477]	Chr4:119271862 [GRCh38] Chr4:120193017 [GRCh37] Chr4:4q26	benign\|uncertain significance
GRCh37/hg19 4q26-28.2(chr4:116833638-130232122)	copy number loss	Atypical behavior [RCV001352657]	Chr4:116833638..130232122 [GRCh37] Chr4:4q26-28.2	pathogenic
NM_001371395.1(USP53):c.1687del (p.Ser563fs)	deletion	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV002246805]	Chr4:119271547 [GRCh38] Chr4:120192702 [GRCh37] Chr4:4q26	pathogenic
NM_001371395.1(USP53):c.2985A>G (p.Thr995=)	single nucleotide variant	not provided [RCV003109024]	Chr4:119292974 [GRCh38] Chr4:120214129 [GRCh37] Chr4:4q26	likely benign
NM_001371395.1(USP53):c.951del (p.Phe317fs)	deletion	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV001795663]	Chr4:119261838 [GRCh38] Chr4:120182993 [GRCh37] Chr4:4q26	pathogenic
NM_001371395.1(USP53):c.725C>T (p.Pro242Leu)	single nucleotide variant	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV001795664]	Chr4:119260556 [GRCh38] Chr4:120181711 [GRCh37] Chr4:4q26	pathogenic
NM_001371395.1(USP53):c.510del (p.Ser171fs)	deletion	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV001795665]	Chr4:119256464 [GRCh38] Chr4:120177619 [GRCh37] Chr4:4q26	pathogenic
GRCh37/hg19 4q26-28.3(chr4:114872547-138005267)x1	copy number loss	not provided [RCV001795851]	Chr4:114872547..138005267 [GRCh37] Chr4:4q26-28.3	pathogenic
NM_001371395.1(USP53):c.331C>T (p.Arg111Ter)	single nucleotide variant	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV002052191]	Chr4:119248841 [GRCh38] Chr4:120169996 [GRCh37] Chr4:4q26	likely pathogenic
GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	copy number gain	not specified [RCV002053446]	Chr4:104715235..145252595 [GRCh37] Chr4:4q24-31.21	pathogenic
GRCh37/hg19 4q26-28.2(chr4:116888785-129649979)	copy number loss	not specified [RCV002053451]	Chr4:116888785..129649979 [GRCh37] Chr4:4q26-28.2	pathogenic
NM_001371395.1(USP53):c.158T>A (p.Leu53Ter)	single nucleotide variant	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV002052053]	Chr4:119245350 [GRCh38] Chr4:120166505 [GRCh37] Chr4:4q26	likely pathogenic
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	copy number gain	not provided [RCV001827738]	Chr4:52866944..143582507 [GRCh37] Chr4:4q12-31.21	pathogenic
NM_001371395.1(USP53):c.372+3_372+6del	deletion	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV003448431]\|not provided [RCV001916848]	Chr4:119248883..119248886 [GRCh38] Chr4:120170038..120170041 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.874G>A (p.Val292Ile)	single nucleotide variant	Inborn genetic diseases [RCV003277993]	Chr4:119261766 [GRCh38] Chr4:120182921 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.973-1G>A	single nucleotide variant	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV002283808]	Chr4:119267319 [GRCh38] Chr4:120188474 [GRCh37] Chr4:4q26	likely pathogenic
NM_001371395.1(USP53):c.972+3_972+6del	deletion	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV002283729]	Chr4:119261865..119261868 [GRCh38] Chr4:120183020..120183023 [GRCh37] Chr4:4q26	likely pathogenic
NM_001371395.1(USP53):c.1702G>T (p.Asp568Tyr)	single nucleotide variant	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV002471943]\|Inborn genetic diseases [RCV002571472]\|not provided [RCV002571471]	Chr4:119271562 [GRCh38] Chr4:120192717 [GRCh37] Chr4:4q26	likely benign\|uncertain significance
NM_001371395.1(USP53):c.2619G>A (p.Lys873=)	single nucleotide variant	not provided [RCV002816071]	Chr4:119292608 [GRCh38] Chr4:120213763 [GRCh37] Chr4:4q26	likely benign
NM_001371395.1(USP53):c.3147T>C (p.Tyr1049=)	single nucleotide variant	not provided [RCV002882203]	Chr4:119293136 [GRCh38] Chr4:120214291 [GRCh37] Chr4:4q26	benign
NM_001371395.1(USP53):c.1280A>G (p.Lys427Arg)	single nucleotide variant	not provided [RCV002616622]	Chr4:119268412 [GRCh38] Chr4:120189567 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.3015C>T (p.Asn1005=)	single nucleotide variant	not provided [RCV002907961]	Chr4:119293004 [GRCh38] Chr4:120214159 [GRCh37] Chr4:4q26	benign\|likely benign
NM_001371395.1(USP53):c.2187G>A (p.Thr729=)	single nucleotide variant	not provided [RCV002882202]	Chr4:119273644 [GRCh38] Chr4:120194799 [GRCh37] Chr4:4q26	benign
NM_001371395.1(USP53):c.1466A>T (p.Gln489Leu)	single nucleotide variant	not provided [RCV002975271]	Chr4:119271326 [GRCh38] Chr4:120192481 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.1527T>C (p.His509=)	single nucleotide variant	not provided [RCV002979466]	Chr4:119271387 [GRCh38] Chr4:120192542 [GRCh37] Chr4:4q26	likely benign
NM_001371395.1(USP53):c.952G>C (p.Asp318His)	single nucleotide variant	Inborn genetic diseases [RCV002845082]	Chr4:119261844 [GRCh38] Chr4:120182999 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.1218G>A (p.Gln406=)	single nucleotide variant	not provided [RCV003080702]	Chr4:119268350 [GRCh38] Chr4:120189505 [GRCh37] Chr4:4q26	likely benign
NM_001371395.1(USP53):c.2390C>G (p.Ser797Cys)	single nucleotide variant	Inborn genetic diseases [RCV002887461]	Chr4:119292379 [GRCh38] Chr4:120213534 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.1759A>G (p.Met587Val)	single nucleotide variant	not provided [RCV002795640]	Chr4:119271619 [GRCh38] Chr4:120192774 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.1979G>C (p.Gly660Ala)	single nucleotide variant	not provided [RCV002909973]	Chr4:119271839 [GRCh38] Chr4:120192994 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.2348+19C>T	single nucleotide variant	not provided [RCV002576364]	Chr4:119291280 [GRCh38] Chr4:120212435 [GRCh37] Chr4:4q26	benign
NM_001371395.1(USP53):c.916G>A (p.Ala306Thr)	single nucleotide variant	Inborn genetic diseases [RCV002915268]	Chr4:119261808 [GRCh38] Chr4:120182963 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.2525C>G (p.Pro842Arg)	single nucleotide variant	Inborn genetic diseases [RCV002698489]	Chr4:119292514 [GRCh38] Chr4:120213669 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.1135+16A>G	single nucleotide variant	not provided [RCV002627029]	Chr4:119267498 [GRCh38] Chr4:120188653 [GRCh37] Chr4:4q26	likely benign
NM_001371395.1(USP53):c.614C>T (p.Pro205Leu)	single nucleotide variant	Inborn genetic diseases [RCV002701659]	Chr4:119259864 [GRCh38] Chr4:120181019 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.2068dup (p.Ser690fs)	duplication	not provided [RCV002982429]	Chr4:119271925..119271926 [GRCh38] Chr4:120193080..120193081 [GRCh37] Chr4:4q26	pathogenic
NM_001371395.1(USP53):c.2533G>A (p.Val845Ile)	single nucleotide variant	Inborn genetic diseases [RCV003367997]\|not provided [RCV003085261]	Chr4:119292522 [GRCh38] Chr4:120213677 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.1150G>A (p.Val384Ile)	single nucleotide variant	Inborn genetic diseases [RCV002915681]	Chr4:119268282 [GRCh38] Chr4:120189437 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.21dup (p.Arg8fs)	duplication	not provided [RCV002957861]	Chr4:119239779..119239780 [GRCh38] Chr4:120160934..120160935 [GRCh37] Chr4:4q26	pathogenic
NM_001371395.1(USP53):c.738A>G (p.Thr246=)	single nucleotide variant	not provided [RCV002828093]	Chr4:119260569 [GRCh38] Chr4:120181724 [GRCh37] Chr4:4q26	benign
NM_001371395.1(USP53):c.1661A>G (p.Asn554Ser)	single nucleotide variant	not provided [RCV002938484]	Chr4:119271521 [GRCh38] Chr4:120192676 [GRCh37] Chr4:4q26	benign
NM_001371395.1(USP53):c.3041T>C (p.Ile1014Thr)	single nucleotide variant	Inborn genetic diseases [RCV003065250]\|USP53-related disorder [RCV003926666]\|not provided [RCV003065249]	Chr4:119293030 [GRCh38] Chr4:120214185 [GRCh37] Chr4:4q26	likely benign\|uncertain significance
NM_001371395.1(USP53):c.1617T>C (p.Ile539=)	single nucleotide variant	not provided [RCV002900551]	Chr4:119271477 [GRCh38] Chr4:120192632 [GRCh37] Chr4:4q26	benign
NM_001371395.1(USP53):c.1704T>C (p.Asp568=)	single nucleotide variant	not provided [RCV002770640]	Chr4:119271564 [GRCh38] Chr4:120192719 [GRCh37] Chr4:4q26	likely benign
NM_001371395.1(USP53):c.1640C>A (p.Thr547Asn)	single nucleotide variant	not provided [RCV002671247]	Chr4:119271500 [GRCh38] Chr4:120192655 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.289A>G (p.Asn97Asp)	single nucleotide variant	Inborn genetic diseases [RCV002897079]\|not provided [RCV003561119]	Chr4:119248799 [GRCh38] Chr4:120169954 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.1948dup (p.Ile650fs)	duplication	not provided [RCV002966238]	Chr4:119271805..119271806 [GRCh38] Chr4:120192960..120192961 [GRCh37] Chr4:4q26	pathogenic
NM_001371395.1(USP53):c.486+8G>T	single nucleotide variant	not provided [RCV002811453]	Chr4:119256367 [GRCh38] Chr4:120177522 [GRCh37] Chr4:4q26	benign
NM_001371395.1(USP53):c.277C>T (p.Leu93Phe)	single nucleotide variant	Inborn genetic diseases [RCV002895954]	Chr4:119248787 [GRCh38] Chr4:120169942 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.1780G>A (p.Asp594Asn)	single nucleotide variant	Inborn genetic diseases [RCV002812770]	Chr4:119271640 [GRCh38] Chr4:120192795 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.2348+17del	deletion	not provided [RCV003046670]	Chr4:119291271 [GRCh38] Chr4:120212426 [GRCh37] Chr4:4q26	benign
NM_001371395.1(USP53):c.2886T>G (p.Ser962Arg)	single nucleotide variant	not provided [RCV003066232]	Chr4:119292875 [GRCh38] Chr4:120214030 [GRCh37] Chr4:4q26	benign
NM_001371395.1(USP53):c.554C>T (p.Ser185Phe)	single nucleotide variant	not provided [RCV002583395]	Chr4:119256508 [GRCh38] Chr4:120177663 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.1940A>G (p.Lys647Arg)	single nucleotide variant	Inborn genetic diseases [RCV002654611]\|USP53-related disorder [RCV003926750]\|not provided [RCV002654610]	Chr4:119271800 [GRCh38] Chr4:120192955 [GRCh37] Chr4:4q26	likely benign\|uncertain significance
NM_001371395.1(USP53):c.829del (p.Tyr277fs)	deletion	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV003131853]	Chr4:119261716 [GRCh38] Chr4:120182871 [GRCh37] Chr4:4q26	likely pathogenic
NM_001371395.1(USP53):c.823-5A>G	single nucleotide variant	not provided [RCV004778470]	Chr4:119261710 [GRCh38] Chr4:120182865 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.371T>A (p.Phe124Tyr)	single nucleotide variant	Inborn genetic diseases [RCV003212760]	Chr4:119248881 [GRCh38] Chr4:120170036 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.280C>T (p.Pro94Ser)	single nucleotide variant	Inborn genetic diseases [RCV003217215]	Chr4:119248790 [GRCh38] Chr4:120169945 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.3137C>T (p.Thr1046Met)	single nucleotide variant	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV005248984]\|Inborn genetic diseases [RCV003201491]	Chr4:119293126 [GRCh38] Chr4:120214281 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.1077G>C (p.Glu359Asp)	single nucleotide variant	Inborn genetic diseases [RCV003178052]	Chr4:119267424 [GRCh38] Chr4:120188579 [GRCh37] Chr4:4q26	likely benign
NM_001371395.1(USP53):c.1577G>A (p.Arg526Gln)	single nucleotide variant	Inborn genetic diseases [RCV003180240]	Chr4:119271437 [GRCh38] Chr4:120192592 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.1472G>A (p.Gly491Glu)	single nucleotide variant	Inborn genetic diseases [RCV003286299]	Chr4:119271332 [GRCh38] Chr4:120192487 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.1295_1299del (p.Leu432fs)	microsatellite	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV003340843]	Chr4:119269692..119269696 [GRCh38] Chr4:120190847..120190851 [GRCh37] Chr4:4q26	likely pathogenic
NM_001371395.1(USP53):c.822+1del	deletion	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV003338225]	Chr4:119260651 [GRCh38] Chr4:120181806 [GRCh37] Chr4:4q26	pathogenic\|likely pathogenic
NM_001371395.1(USP53):c.976G>A (p.Gly326Arg)	single nucleotide variant	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV003340948]\|Inborn genetic diseases [RCV003341568]	Chr4:119267323 [GRCh38] Chr4:120188478 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.1454T>C (p.Leu485Pro)	single nucleotide variant	Inborn genetic diseases [RCV003363281]\|not provided [RCV003699070]	Chr4:119271314 [GRCh38] Chr4:120192469 [GRCh37] Chr4:4q26	likely benign\|uncertain significance
NM_001371395.1(USP53):c.1081G>A (p.Ala361Thr)	single nucleotide variant	Inborn genetic diseases [RCV003355040]	Chr4:119267428 [GRCh38] Chr4:120188583 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.1093G>A (p.Val365Ile)	single nucleotide variant	Inborn genetic diseases [RCV003356021]	Chr4:119267440 [GRCh38] Chr4:120188595 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.3191G>T (p.Ser1064Ile)	single nucleotide variant	Inborn genetic diseases [RCV003352374]	Chr4:119293180 [GRCh38] Chr4:120214335 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.857A>T (p.Asn286Ile)	single nucleotide variant	Inborn genetic diseases [RCV003374224]	Chr4:119261749 [GRCh38] Chr4:120182904 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.2812G>A (p.Glu938Lys)	single nucleotide variant	Inborn genetic diseases [RCV003378343]	Chr4:119292801 [GRCh38] Chr4:120213956 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.821G>A (p.Gly274Glu)	single nucleotide variant	Inborn genetic diseases [RCV003352130]	Chr4:119260652 [GRCh38] Chr4:120181807 [GRCh37] Chr4:4q26	uncertain significance
GRCh37/hg19 4q26(chr4:120191741-120245035)x1	copy number loss	not provided [RCV003485435]	Chr4:120191741..120245035 [GRCh37] Chr4:4q26	uncertain significance
GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	copy number gain	not provided [RCV003484198]	Chr4:117518683..168174703 [GRCh37] Chr4:4q26-32.3	pathogenic
NM_001371395.1(USP53):c.1636dup (p.Ile546fs)	duplication	USP53-related disorder [RCV003403089]	Chr4:119271492..119271493 [GRCh38] Chr4:120192647..120192648 [GRCh37] Chr4:4q26	likely pathogenic
NM_001371395.1(USP53):c.1082C>G (p.Ala361Gly)	single nucleotide variant	not provided [RCV003576284]	Chr4:119267429 [GRCh38] Chr4:120188584 [GRCh37] Chr4:4q26	benign
NM_001371395.1(USP53):c.2525C>T (p.Pro842Leu)	single nucleotide variant	not provided [RCV003739474]	Chr4:119292514 [GRCh38] Chr4:120213669 [GRCh37] Chr4:4q26	benign
NM_001371395.1(USP53):c.1467A>G (p.Gln489=)	single nucleotide variant	not provided [RCV003831823]	Chr4:119271327 [GRCh38] Chr4:120192482 [GRCh37] Chr4:4q26	likely benign
NM_001371395.1(USP53):c.153G>A (p.Trp51Ter)	single nucleotide variant	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV003494422]	Chr4:119245345 [GRCh38] Chr4:120166500 [GRCh37] Chr4:4q26	likely pathogenic
NM_001371395.1(USP53):c.738A>C (p.Thr246=)	single nucleotide variant	not provided [RCV003879164]	Chr4:119260569 [GRCh38] Chr4:120181724 [GRCh37] Chr4:4q26	likely benign
NM_001371395.1(USP53):c.387G>A (p.Glu129=)	single nucleotide variant	not provided [RCV003579096]	Chr4:119256260 [GRCh38] Chr4:120177415 [GRCh37] Chr4:4q26	benign
NM_001371395.1(USP53):c.1136-14C>T	single nucleotide variant	not provided [RCV003877437]	Chr4:119268254 [GRCh38] Chr4:120189409 [GRCh37] Chr4:4q26	benign
NM_001371395.1(USP53):c.372+14_372+16dup	duplication	not provided [RCV003877568]	Chr4:119248895..119248896 [GRCh38] Chr4:120170050..120170051 [GRCh37] Chr4:4q26	likely benign
NM_001371395.1(USP53):c.823-2del	deletion	not provided [RCV003572134]	Chr4:119261713 [GRCh38] Chr4:120182868 [GRCh37] Chr4:4q26	likely pathogenic
NM_001371395.1(USP53):c.144+12A>C	single nucleotide variant	not provided [RCV003825940]	Chr4:119239915 [GRCh38] Chr4:120161070 [GRCh37] Chr4:4q26	likely benign
NM_001371395.1(USP53):c.2766C>A (p.Pro922=)	single nucleotide variant	not provided [RCV003546381]	Chr4:119292755 [GRCh38] Chr4:120213910 [GRCh37] Chr4:4q26	likely benign
NM_001371395.1(USP53):c.2388A>G (p.Ser796=)	single nucleotide variant	not provided [RCV003700379]	Chr4:119292377 [GRCh38] Chr4:120213532 [GRCh37] Chr4:4q26	benign
NM_001371395.1(USP53):c.2348+7A>G	single nucleotide variant	not provided [RCV003703130]	Chr4:119291268 [GRCh38] Chr4:120212423 [GRCh37] Chr4:4q26	likely benign
NM_001371395.1(USP53):c.1444G>C (p.Asp482His)	single nucleotide variant	Inborn genetic diseases [RCV004968496]\|not provided [RCV003834093]	Chr4:119271304 [GRCh38] Chr4:120192459 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.908G>A (p.Cys303Tyr)	single nucleotide variant	not provided [RCV003559418]	Chr4:119261800 [GRCh38] Chr4:120182955 [GRCh37] Chr4:4q26	benign
NM_001371395.1(USP53):c.1278G>C (p.Gly426=)	single nucleotide variant	not provided [RCV003838501]	Chr4:119268410 [GRCh38] Chr4:120189565 [GRCh37] Chr4:4q26	likely benign
NM_001371395.1(USP53):c.363G>A (p.Ala121=)	single nucleotide variant	not provided [RCV003548585]	Chr4:119248873 [GRCh38] Chr4:120170028 [GRCh37] Chr4:4q26	likely benign
NM_001371395.1(USP53):c.2118C>T (p.Ile706=)	single nucleotide variant	not provided [RCV003554242]	Chr4:119271978 [GRCh38] Chr4:120193133 [GRCh37] Chr4:4q26	likely benign
NM_001371395.1(USP53):c.1770A>G (p.Thr590=)	single nucleotide variant	not provided [RCV003729195]	Chr4:119271630 [GRCh38] Chr4:120192785 [GRCh37] Chr4:4q26	likely benign
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	copy number gain	not specified [RCV003986496]	Chr4:101203509..190957473 [GRCh37] Chr4:4q24-35.2	pathogenic
NM_001371395.1(USP53):c.759C>T (p.Ser253=)	single nucleotide variant	not provided [RCV003720071]	Chr4:119260590 [GRCh38] Chr4:120181745 [GRCh37] Chr4:4q26	likely benign
NM_001371395.1(USP53):c.2905C>A (p.Pro969Thr)	single nucleotide variant	not provided [RCV003557242]	Chr4:119292894 [GRCh38] Chr4:120214049 [GRCh37] Chr4:4q26	benign
GRCh37/hg19 4q26(chr4:120143985-120186501)x1	copy number loss	not specified [RCV003986534]	Chr4:120143985..120186501 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.1435+19C>G	single nucleotide variant	not provided [RCV003819291]	Chr4:119269856 [GRCh38] Chr4:120191011 [GRCh37] Chr4:4q26	likely benign
NM_001371395.1(USP53):c.145-10_168del	deletion	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV003988978]\|USP53-related disorder [RCV004756558]	Chr4:119245326..119245359 [GRCh38] Chr4:120166481..120166514 [GRCh37] Chr4:4q26	likely pathogenic
NM_001371395.1(USP53):c.146T>A (p.Val49Asp)	single nucleotide variant	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV003990198]	Chr4:119245338 [GRCh38] Chr4:120166493 [GRCh37] Chr4:4q26	uncertain significance
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	copy number gain	not provided [RCV003885507]	Chr4:45455621..191003541 [GRCh37] Chr4:4p12-q35.2	pathogenic
NM_001371395.1(USP53):c.332G>A (p.Arg111Gln)	single nucleotide variant	Inborn genetic diseases [RCV004477615]	Chr4:119248842 [GRCh38] Chr4:120169997 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.424G>C (p.Asp142His)	single nucleotide variant	Inborn genetic diseases [RCV004477616]	Chr4:119256297 [GRCh38] Chr4:120177452 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.428T>C (p.Met143Thr)	single nucleotide variant	Inborn genetic diseases [RCV004477617]	Chr4:119256301 [GRCh38] Chr4:120177456 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.4G>A (p.Ala2Thr)	single nucleotide variant	Inborn genetic diseases [RCV004477618]	Chr4:119239763 [GRCh38] Chr4:120160918 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.790C>T (p.Arg264Trp)	single nucleotide variant	Inborn genetic diseases [RCV004477619]	Chr4:119260621 [GRCh38] Chr4:120181776 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.2024A>G (p.His675Arg)	single nucleotide variant	Inborn genetic diseases [RCV004477609]	Chr4:119271884 [GRCh38] Chr4:120193039 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.1717T>G (p.Cys573Gly)	single nucleotide variant	Inborn genetic diseases [RCV004477608]	Chr4:119271577 [GRCh38] Chr4:120192732 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.1502A>G (p.Gln501Arg)	single nucleotide variant	Inborn genetic diseases [RCV004477607]	Chr4:119271362 [GRCh38] Chr4:120192517 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.1357A>G (p.Ile453Val)	single nucleotide variant	Inborn genetic diseases [RCV004477606]	Chr4:119269759 [GRCh38] Chr4:120190914 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.1323A>G (p.Ile441Met)	single nucleotide variant	Inborn genetic diseases [RCV004477605]	Chr4:119269725 [GRCh38] Chr4:120190880 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.2239C>A (p.His747Asn)	single nucleotide variant	Inborn genetic diseases [RCV004477610]	Chr4:119273696 [GRCh38] Chr4:120194851 [GRCh37] Chr4:4q26	likely benign
NM_001371395.1(USP53):c.2414A>G (p.His805Arg)	single nucleotide variant	Inborn genetic diseases [RCV004477611]	Chr4:119292403 [GRCh38] Chr4:120213558 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.2632C>T (p.Pro878Ser)	single nucleotide variant	Inborn genetic diseases [RCV004477612]	Chr4:119292621 [GRCh38] Chr4:120213776 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.2705G>A (p.Arg902Gln)	single nucleotide variant	Inborn genetic diseases [RCV004477613]	Chr4:119292694 [GRCh38] Chr4:120213849 [GRCh37] Chr4:4q26	likely benign
NM_001371395.1(USP53):c.2726G>C (p.Gly909Ala)	single nucleotide variant	Inborn genetic diseases [RCV004477614]	Chr4:119292715 [GRCh38] Chr4:120213870 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.2675A>C (p.Glu892Ala)	single nucleotide variant	Inborn genetic diseases [RCV004688563]	Chr4:119292664 [GRCh38] Chr4:120213819 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.1546T>C (p.Tyr516His)	single nucleotide variant	Inborn genetic diseases [RCV004680679]	Chr4:119271406 [GRCh38] Chr4:120192561 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.286G>C (p.Asp96His)	single nucleotide variant	Inborn genetic diseases [RCV004680677]	Chr4:119248796 [GRCh38] Chr4:120169951 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.2044C>G (p.Gln682Glu)	single nucleotide variant	Inborn genetic diseases [RCV004680676]	Chr4:119271904 [GRCh38] Chr4:120193059 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.3100T>G (p.Ser1034Ala)	single nucleotide variant	Inborn genetic diseases [RCV004680675]	Chr4:119293089 [GRCh38] Chr4:120214244 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.1745G>A (p.Arg582Gln)	single nucleotide variant	Inborn genetic diseases [RCV004680674]	Chr4:119271605 [GRCh38] Chr4:120192760 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.2186C>T (p.Thr729Met)	single nucleotide variant	Inborn genetic diseases [RCV004680673]	Chr4:119273643 [GRCh38] Chr4:120194798 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.659A>C (p.Asp220Ala)	single nucleotide variant	Inborn genetic diseases [RCV004680672]	Chr4:119259909 [GRCh38] Chr4:120181064 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.1489A>G (p.Asn497Asp)	single nucleotide variant	Inborn genetic diseases [RCV004680671]	Chr4:119271349 [GRCh38] Chr4:120192504 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.1962T>A (p.Ser654Arg)	single nucleotide variant	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV004771783]	Chr4:119271822 [GRCh38] Chr4:120192977 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.1069dup (p.Ser357fs)	duplication	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV004776357]	Chr4:119267413..119267414 [GRCh38] Chr4:120188568..120188569 [GRCh37] Chr4:4q26	pathogenic
NM_001371395.1(USP53):c.1001C>T (p.Ser334Phe)	single nucleotide variant	Inborn genetic diseases [RCV004972002]	Chr4:119267348 [GRCh38] Chr4:120188503 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.713T>C (p.Leu238Ser)	single nucleotide variant	Inborn genetic diseases [RCV004972006]	Chr4:119260544 [GRCh38] Chr4:120181699 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.1219A>T (p.Lys407Ter)	single nucleotide variant	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV005002072]	Chr4:119268351 [GRCh38] Chr4:120189506 [GRCh37] Chr4:4q26	pathogenic
NM_001371395.1(USP53):c.2429A>G (p.His810Arg)	single nucleotide variant	Inborn genetic diseases [RCV004972008]	Chr4:119292418 [GRCh38] Chr4:120213573 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.1850C>G (p.Pro617Arg)	single nucleotide variant	Inborn genetic diseases [RCV004972010]	Chr4:119271710 [GRCh38] Chr4:120192865 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.1838T>C (p.Ile613Thr)	single nucleotide variant	Inborn genetic diseases [RCV004971998]	Chr4:119271698 [GRCh38] Chr4:120192853 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.1843A>G (p.Asn615Asp)	single nucleotide variant	Inborn genetic diseases [RCV004972005]	Chr4:119271703 [GRCh38] Chr4:120192858 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.1649T>A (p.Val550Asp)	single nucleotide variant	Inborn genetic diseases [RCV004972004]\|not provided [RCV005109993]	Chr4:119271509 [GRCh38] Chr4:120192664 [GRCh37] Chr4:4q26	likely benign\|uncertain significance
NM_001371395.1(USP53):c.2056T>G (p.Ser686Ala)	single nucleotide variant	Inborn genetic diseases [RCV004971996]	Chr4:119271916 [GRCh38] Chr4:120193071 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.2209C>T (p.Arg737Cys)	single nucleotide variant	Inborn genetic diseases [RCV004972003]	Chr4:119273666 [GRCh38] Chr4:120194821 [GRCh37] Chr4:4q26	likely benign
NM_001371395.1(USP53):c.685G>A (p.Gly229Ser)	single nucleotide variant	Inborn genetic diseases [RCV004972001]	Chr4:119260516 [GRCh38] Chr4:120181671 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.2429A>C (p.His810Pro)	single nucleotide variant	Inborn genetic diseases [RCV004972000]	Chr4:119292418 [GRCh38] Chr4:120213573 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.2308C>A (p.Pro770Thr)	single nucleotide variant	Inborn genetic diseases [RCV004972007]	Chr4:119291221 [GRCh38] Chr4:120212376 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.3045T>G (p.Asp1015Glu)	single nucleotide variant	Inborn genetic diseases [RCV004972009]	Chr4:119293034 [GRCh38] Chr4:120214189 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.23G>A (p.Arg8Gln)	single nucleotide variant	Inborn genetic diseases [RCV004971999]	Chr4:119239782 [GRCh38] Chr4:120160937 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.197A>G (p.His66Arg)	single nucleotide variant	not provided [RCV005146346]	Chr4:119245389 [GRCh38] Chr4:120166544 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.307G>A (p.Ala103Thr)	single nucleotide variant	not provided [RCV005139628]	Chr4:119248817 [GRCh38] Chr4:120169972 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.973-5A>T	single nucleotide variant	not provided [RCV005120104]	Chr4:119267315 [GRCh38] Chr4:120188470 [GRCh37] Chr4:4q26	benign
NM_001371395.1(USP53):c.336del (p.Gln113fs)	deletion	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV005229663]	Chr4:119248844 [GRCh38] Chr4:120169999 [GRCh37] Chr4:4q26	likely pathogenic
NM_001371395.1(USP53):c.372+9_372+18del	deletion	not provided [RCV005106264]	Chr4:119248890..119248899 [GRCh38] Chr4:120170045..120170054 [GRCh37] Chr4:4q26	likely benign
NM_001371395.1(USP53):c.675T>C (p.Pro225=)	single nucleotide variant	not provided [RCV005087142]	Chr4:119259925 [GRCh38] Chr4:120181080 [GRCh37] Chr4:4q26	uncertain significance
NM_001371395.1(USP53):c.3138G>A (p.Thr1046=)	single nucleotide variant	not provided [RCV005062185]	Chr4:119293127 [GRCh38] Chr4:120214282 [GRCh37] Chr4:4q26	likely benign
NM_001371395.1(USP53):c.136G>T (p.Ala46Ser)	single nucleotide variant	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [RCV005247942]	Chr4:119239895 [GRCh38] Chr4:120161050 [GRCh37] Chr4:4q26	likely pathogenic
NM_001371395.1(USP53):c.973-4A>T	single nucleotide variant	not provided [RCV005201031]	Chr4:119267316 [GRCh38] Chr4:120188471 [GRCh37] Chr4:4q26	likely benign

Predicted Target Of

	Summary Value
Count of predictions:	3136
Count of miRNA genes:	940
Interacting mature miRNAs:	1118
Transcripts:	ENST00000274030, ENST00000450251, ENST00000507597, ENST00000507906, ENST00000509769, ENST00000510737, ENST00000510852, ENST00000514305, ENST00000514665
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597316090	GWAS1412164_H	BMI-adjusted waist circumference QTL GWAS1412164 (human)		2e-11	body size trait (VT:0100005)		4	119213641	119213642	Human
1643256	BW127_H	Body Weight QTL 127 (human)	1.31	0.007	Body weight	body mass index	4	106319694	132319694	Human
597476653	GWAS1572727_H	appendicular lean mass QTL GWAS1572727 (human)		7e-22	appendicular lean mass		4	119221151	119221152	Human
597081095	GWAS1177169_H	neutrophil count QTL GWAS1177169 (human)		1e-11	neutrophil quantity (VT:0000222)	blood neutrophil count (CMO:0000030)	4	119234651	119234652	Human
406917890	GWAS566866_H	Astigmatism QTL GWAS566866 (human)		0.000009	Astigmatism		4	119266456	119266457	Human
597291773	GWAS1387847_H	BMI-adjusted waist-hip ratio QTL GWAS1387847 (human)		5e-11	body size trait (VT:0100005)		4	119213641	119213642	Human
597244940	GWAS1341014_H	BMI-adjusted waist-hip ratio QTL GWAS1341014 (human)		2e-10	body size trait (VT:0100005)		4	119213641	119213642	Human
597214897	GWAS1310971_H	body mass index QTL GWAS1310971 (human)		2e-09	body mass index	body mass index (BMI) (CMO:0000105)	4	119292875	119292876	Human
597223730	GWAS1319804_H	BMI-adjusted waist circumference QTL GWAS1319804 (human)		4e-11	body size trait (VT:0100005)		4	119213641	119213642	Human
597174439	GWAS1270513_H	body mass index QTL GWAS1270513 (human)		8e-11	body mass index	body mass index (BMI) (CMO:0000105)	4	119292875	119292876	Human

D4S402

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	120,148,183 - 120,148,403	UniSTS	GRCh37
GRCh37	4	120,148,181 - 120,148,477	UniSTS	GRCh37
Build 36	4	120,367,629 - 120,367,925	RGD	NCBI36
Celera	4	117,509,773 - 117,510,069	RGD
Celera	4	117,509,775 - 117,509,995	UniSTS
Cytogenetic Map	4	q26	UniSTS
Marshfield Genetic Map	4	124.45	RGD
Marshfield Genetic Map	4	124.45	UniSTS
Genethon Genetic Map	4	123.5	UniSTS
TNG Radiation Hybrid Map	4	73797.0	UniSTS
deCODE Assembly Map	4	122.1	UniSTS
GeneMap99-GB4 RH Map	4	556.93	UniSTS
Whitehead-YAC Contig Map	4		UniSTS
NCBI RH Map	4	1251.6	UniSTS

RH45125

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	120,216,391 - 120,216,582	UniSTS	GRCh37
Build 36	4	120,435,839 - 120,436,030	RGD	NCBI36
Celera	4	117,577,981 - 117,578,172	RGD
Cytogenetic Map	4	q26	UniSTS
HuRef	4	115,938,222 - 115,938,415	UniSTS
GeneMap99-GB4 RH Map	4	546.39	UniSTS
NCBI RH Map	4	1251.6	UniSTS

RH16578

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	120,184,626 - 120,184,750	UniSTS	GRCh37
Build 36	4	120,404,074 - 120,404,198	RGD	NCBI36
Celera	4	117,546,221 - 117,546,345	RGD
Cytogenetic Map	4	q26	UniSTS
HuRef	4	115,906,491 - 115,906,615	UniSTS
GeneMap99-GB4 RH Map	4	545.92	UniSTS

RH99090

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	120,215,487 - 120,215,566	UniSTS	GRCh37
Build 36	4	120,434,935 - 120,435,014	RGD	NCBI36
Celera	4	117,577,077 - 117,577,156	RGD
Cytogenetic Map	4	q26	UniSTS
HuRef	4	115,937,318 - 115,937,397	UniSTS
GeneMap99-GB4 RH Map	4	546.39	UniSTS

SHGC-14338

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	120,150,716 - 120,150,832	UniSTS	GRCh37
Build 36	4	120,370,164 - 120,370,280	RGD	NCBI36
Celera	4	117,512,308 - 117,512,424	RGD
Cytogenetic Map	4	q26	UniSTS
HuRef	4	115,872,700 - 115,872,816	UniSTS
TNG Radiation Hybrid Map	4	73804.0	UniSTS

SHGC-33542

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	120,184,604 - 120,184,753	UniSTS	GRCh37
Build 36	4	120,404,052 - 120,404,201	RGD	NCBI36
Celera	4	117,546,199 - 117,546,348	RGD
Cytogenetic Map	4	q26	UniSTS
HuRef	4	115,906,469 - 115,906,618	UniSTS
TNG Radiation Hybrid Map	4	73744.0	UniSTS
GeneMap99-GB4 RH Map	4	546.39	UniSTS
Whitehead-RH Map	4	597.7	UniSTS
NCBI RH Map	4	1251.6	UniSTS
GeneMap99-G3 RH Map	4	6699.0	UniSTS

SHGC-67633

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	120,158,462 - 120,158,638	UniSTS	GRCh37
Build 36	4	120,377,910 - 120,378,086	RGD	NCBI36
Celera	4	117,520,054 - 117,520,230	RGD
Cytogenetic Map	4	q26	UniSTS
HuRef	4	115,880,446 - 115,880,622	UniSTS
GeneMap99-GB4 RH Map	4	546.39	UniSTS
NCBI RH Map	4	1251.6	UniSTS

D15S1390

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	19	q13.33	UniSTS
Cytogenetic Map	10	q26.3	UniSTS
Cytogenetic Map	7	q34	UniSTS
Cytogenetic Map	17	q21.33	UniSTS
Cytogenetic Map	18	q11.2	UniSTS
Cytogenetic Map	16	p11.2	UniSTS
Cytogenetic Map	8	p11.22	UniSTS
Cytogenetic Map	10	q23.2	UniSTS
Cytogenetic Map	15	q21	UniSTS
Cytogenetic Map	6	p25	UniSTS
Cytogenetic Map	1	q21.3	UniSTS
Cytogenetic Map	8	q24.22	UniSTS
Cytogenetic Map	6	p23	UniSTS
Cytogenetic Map	12	q13.3	UniSTS
Cytogenetic Map	1	q32.1	UniSTS
Cytogenetic Map	5	q31	UniSTS
Cytogenetic Map	16	q24.1	UniSTS
Cytogenetic Map	20	p13	UniSTS
Cytogenetic Map	7	q22	UniSTS
Cytogenetic Map	1	p34.2	UniSTS
Cytogenetic Map	11	q23.3	UniSTS
Cytogenetic Map	12	q22	UniSTS
Cytogenetic Map	18	q12.1	UniSTS
Cytogenetic Map	19	p13.11	UniSTS
Cytogenetic Map	10	q24.32	UniSTS
Cytogenetic Map	4	q26	UniSTS
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	11	q12-q13	UniSTS
Cytogenetic Map	14	q32.3	UniSTS
Cytogenetic Map	1	p36.11	UniSTS
Cytogenetic Map	7	q32.1	UniSTS
Cytogenetic Map	19	p13.1	UniSTS
Cytogenetic Map	7	p13-p12	UniSTS
Cytogenetic Map	10	q25.2	UniSTS
Cytogenetic Map	3	p14.1	UniSTS
Cytogenetic Map	8	q22.1	UniSTS
Cytogenetic Map	4	q21.1	UniSTS
Cytogenetic Map	12	q13.12	UniSTS
Cytogenetic Map	1	q21.2	UniSTS
Cytogenetic Map	19	q13	UniSTS
Cytogenetic Map	7	q21.3	UniSTS
Cytogenetic Map	17	q21	UniSTS
Cytogenetic Map	18	q21.3	UniSTS
Cytogenetic Map	22	q13.33	UniSTS
Cytogenetic Map	1	q25.2	UniSTS
Cytogenetic Map	12	q13	UniSTS
Cytogenetic Map	1	p32	UniSTS
Cytogenetic Map	15	q23	UniSTS
Cytogenetic Map	14	q21.3	UniSTS
Cytogenetic Map	8	p23.1	UniSTS
Cytogenetic Map	10	q24.2	UniSTS
Cytogenetic Map	7	p13	UniSTS

D1S1423

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	10	p12.1	UniSTS
Cytogenetic Map	10	p12.1-p11.2	UniSTS
Cytogenetic Map	9	q34.13	UniSTS
Cytogenetic Map	16	q22.1	UniSTS
Cytogenetic Map	21	q22.2	UniSTS
Cytogenetic Map	3	p24.2	UniSTS
Cytogenetic Map	9	q32	UniSTS
Cytogenetic Map	1	q24	UniSTS
Cytogenetic Map	1	q21	UniSTS
Cytogenetic Map	1	p36.33	UniSTS
Cytogenetic Map	7	p15.2	UniSTS
Cytogenetic Map	6	p21	UniSTS
Cytogenetic Map	5	q31	UniSTS
Cytogenetic Map	6	p22.3-p21.32	UniSTS
Cytogenetic Map	6	q22.33	UniSTS
Cytogenetic Map	3	q29	UniSTS
Cytogenetic Map	17	p11.2	UniSTS
Cytogenetic Map	19	q13.3	UniSTS
Cytogenetic Map	1	p36.13	UniSTS
Cytogenetic Map	5	q33.3	UniSTS
Cytogenetic Map	22	q11.22	UniSTS
Cytogenetic Map	11	q13.2-q13.3	UniSTS
Cytogenetic Map	3	q22-q24	UniSTS
Cytogenetic Map	8	p21.3	UniSTS
Cytogenetic Map	7	q32	UniSTS
Cytogenetic Map	1	p32.3	UniSTS
Cytogenetic Map	19	p13.12	UniSTS
Cytogenetic Map	4	q21.1	UniSTS
Cytogenetic Map	12	q13.13	UniSTS
Cytogenetic Map	7	q11.2	UniSTS
Cytogenetic Map	1	p22.1	UniSTS
Cytogenetic Map	2	q32	UniSTS
Cytogenetic Map	X	q13.1	UniSTS
Cytogenetic Map	9	q12	UniSTS
Cytogenetic Map	3	q26.2	UniSTS
Cytogenetic Map	22	q11.21	UniSTS
Cytogenetic Map	10	q23-q24	UniSTS
Cytogenetic Map	17	q12	UniSTS
Cytogenetic Map	1	p36.21	UniSTS
Cytogenetic Map	19	p13.2	UniSTS
Cytogenetic Map	16	q24.3	UniSTS
Cytogenetic Map	9	q34.3	UniSTS
Cytogenetic Map	4	p14	UniSTS
Cytogenetic Map	2	p12	UniSTS
Cytogenetic Map	16	p11.2	UniSTS
Cytogenetic Map	3	q23	UniSTS
Cytogenetic Map	18	q22.1	UniSTS
Cytogenetic Map	13	q12	UniSTS
Cytogenetic Map	10	p14-p13	UniSTS
Cytogenetic Map	12	p13.31	UniSTS
Cytogenetic Map	14	q24.3	UniSTS
Cytogenetic Map	22	q13.2	UniSTS
Cytogenetic Map	19	q13.11	UniSTS
Cytogenetic Map	11	q23-q24	UniSTS
Cytogenetic Map	11	q13.1	UniSTS
Cytogenetic Map	12	q24.31	UniSTS
Cytogenetic Map	17	q25	UniSTS
Cytogenetic Map	16	q24.1	UniSTS
Cytogenetic Map	5	q23.3	UniSTS
Cytogenetic Map	19	q13.43	UniSTS
Cytogenetic Map	17	q11.2	UniSTS
Cytogenetic Map	20	q13.12	UniSTS
Cytogenetic Map	X	p11.23	UniSTS
Cytogenetic Map	19	q13.42	UniSTS
Cytogenetic Map	16	q13	UniSTS
Cytogenetic Map	11	q25	UniSTS
Cytogenetic Map	22	cen-q12.3	UniSTS
Cytogenetic Map	10	p13	UniSTS
Cytogenetic Map	2	p11.2	UniSTS
Cytogenetic Map	15	q11.2-q21.3	UniSTS
Cytogenetic Map	1	p21.2	UniSTS
Cytogenetic Map	19	p13	UniSTS
Cytogenetic Map	7	q21.13	UniSTS
Cytogenetic Map	7	q31.1	UniSTS
Cytogenetic Map	17	p13.3	UniSTS
Cytogenetic Map	1	p35.1	UniSTS
Cytogenetic Map	16	q24	UniSTS
Cytogenetic Map	3	q25	UniSTS
Cytogenetic Map	2	q24.2	UniSTS
Cytogenetic Map	1	p31.3	UniSTS
Cytogenetic Map	14	q31.1	UniSTS
Cytogenetic Map	22	q13.1	UniSTS
Cytogenetic Map	20	q13.31	UniSTS
Cytogenetic Map	19	p13.3	UniSTS
Cytogenetic Map	6	p12.1	UniSTS
Cytogenetic Map	6	q25.3	UniSTS
Cytogenetic Map	1	q32.1	UniSTS
Cytogenetic Map	11	q24.2	UniSTS
Cytogenetic Map	10	p15.1	UniSTS
Cytogenetic Map	2	p13.1	UniSTS
Cytogenetic Map	19	q13.12	UniSTS
Cytogenetic Map	12	p13.32	UniSTS
Cytogenetic Map	4	q35.1	UniSTS
Cytogenetic Map	2	p13.3	UniSTS
Cytogenetic Map	1	p22	UniSTS
Cytogenetic Map	2	q14	UniSTS
Cytogenetic Map	4	q12	UniSTS
Cytogenetic Map	16	p13.3	UniSTS
Cytogenetic Map	14	q32.33	UniSTS
Cytogenetic Map	1	p36.1	UniSTS
Cytogenetic Map	8	p11.21	UniSTS
Cytogenetic Map	X	q26.3	UniSTS
Cytogenetic Map	8	q24.11	UniSTS
Cytogenetic Map	9	q22.31	UniSTS
Cytogenetic Map	7	q11.23	UniSTS
Cytogenetic Map	2	p15	UniSTS
Cytogenetic Map	5	q31.1	UniSTS
Cytogenetic Map	8	q24.13	UniSTS
Cytogenetic Map	17	p13	UniSTS
Cytogenetic Map	8	p11.22	UniSTS
Cytogenetic Map	4	q28	UniSTS
Cytogenetic Map	15	q24.1	UniSTS
Cytogenetic Map	1	q41-q42	UniSTS
Cytogenetic Map	10	q22	UniSTS
Cytogenetic Map	5	q35.3	UniSTS
Cytogenetic Map	20	q11.21	UniSTS
Cytogenetic Map	8	q24.3	UniSTS
Cytogenetic Map	12	p13.1-p12.3	UniSTS
Cytogenetic Map	6	p21.33	UniSTS
Cytogenetic Map	22	q13.33	UniSTS
Cytogenetic Map	19	p12	UniSTS
Cytogenetic Map	1	p13.1	UniSTS
Cytogenetic Map	7	q22.1	UniSTS
Cytogenetic Map	14	q12	UniSTS
Cytogenetic Map	19	q13.32	UniSTS
Cytogenetic Map	11	q13.2	UniSTS
Cytogenetic Map	15	q22.31	UniSTS
Cytogenetic Map	5	q12.3	UniSTS
Cytogenetic Map	7	q33	UniSTS
Cytogenetic Map	17	q21.2	UniSTS
Cytogenetic Map	4	q23	UniSTS
Cytogenetic Map	12	q13.12	UniSTS
Cytogenetic Map	18	p11.21	UniSTS
Cytogenetic Map	10	q26.11	UniSTS
Cytogenetic Map	14	q32.12	UniSTS
Cytogenetic Map	11	q24.1	UniSTS
Cytogenetic Map	18	q23	UniSTS
Cytogenetic Map	2	q31.1	UniSTS
Cytogenetic Map	18	p11.31	UniSTS
Cytogenetic Map	2	q24.3	UniSTS
Cytogenetic Map	11	q23	UniSTS
Cytogenetic Map	17	q21.31	UniSTS
Cytogenetic Map	13	q34	UniSTS
Cytogenetic Map	1	p34.3	UniSTS
Cytogenetic Map	10	p14	UniSTS
Cytogenetic Map	15	q22.2	UniSTS
Cytogenetic Map	17	q25.1	UniSTS
Cytogenetic Map	5	q32	UniSTS
Cytogenetic Map	4	p16.3	UniSTS
Cytogenetic Map	12	q23.2	UniSTS
Cytogenetic Map	11	q12.3	UniSTS
Cytogenetic Map	16	q12.2	UniSTS
Cytogenetic Map	9	q22.2	UniSTS
Cytogenetic Map	1	q21.3	UniSTS
Cytogenetic Map	1	p35.3	UniSTS
Cytogenetic Map	19	q13.2	UniSTS
Cytogenetic Map	11	p15.5	UniSTS
Cytogenetic Map	7	q22	UniSTS
Cytogenetic Map	18	p11.31-p11.21	UniSTS
Cytogenetic Map	3	p25.3	UniSTS
Cytogenetic Map	3	q13	UniSTS
Cytogenetic Map	21	q22.3	UniSTS
Cytogenetic Map	1	q43	UniSTS
Cytogenetic Map	19	p13.11	UniSTS
Cytogenetic Map	19	q13.41	UniSTS
Cytogenetic Map	7	p21.2	UniSTS
Cytogenetic Map	12	q21.1	UniSTS
Cytogenetic Map	15	q15.1	UniSTS
Cytogenetic Map	15	q13.1	UniSTS
Cytogenetic Map	1	q42.1	UniSTS
Cytogenetic Map	5	q31.2	UniSTS
Cytogenetic Map	1	q21.2	UniSTS
Cytogenetic Map	17	p13.1	UniSTS
Cytogenetic Map	1	p34-p33	UniSTS
Cytogenetic Map	3	q22.1	UniSTS
Cytogenetic Map	7	p14	UniSTS
Cytogenetic Map	15	q21	UniSTS
Cytogenetic Map	12	q24.2	UniSTS
Cytogenetic Map	20	q13	UniSTS
Cytogenetic Map	19	q13.3-q13.4	UniSTS
Cytogenetic Map	17	q21.32	UniSTS
Cytogenetic Map	15	q11.2	UniSTS
Cytogenetic Map	8	p23-p22	UniSTS
Cytogenetic Map	1	p12	UniSTS
Cytogenetic Map	3	q13.33	UniSTS
Cytogenetic Map	10	p12.33	UniSTS
Cytogenetic Map	5	q13.2	UniSTS
Cytogenetic Map	3	q26	UniSTS
Cytogenetic Map	9	p21.2	UniSTS
Cytogenetic Map	2	p16.1	UniSTS
Cytogenetic Map	5	q21.3	UniSTS
Cytogenetic Map	1	p36.22	UniSTS
Cytogenetic Map	1	p34.2	UniSTS
Cytogenetic Map	3	q26.31	UniSTS
Cytogenetic Map	X	p22.33	UniSTS
Cytogenetic Map	Y	p11.3	UniSTS
Cytogenetic Map	17	q24.1	UniSTS
Cytogenetic Map	9	q21.11	UniSTS
Cytogenetic Map	6	q22.31	UniSTS
Cytogenetic Map	9	q21.13	UniSTS
Cytogenetic Map	10	q11.22	UniSTS
Cytogenetic Map	22	q13.31	UniSTS
Cytogenetic Map	17	p12	UniSTS
Cytogenetic Map	17	q21.33	UniSTS
Cytogenetic Map	5	p13.3	UniSTS
Cytogenetic Map	10	q21.3	UniSTS
Cytogenetic Map	10	q22.1	UniSTS
Cytogenetic Map	1	p34	UniSTS
Cytogenetic Map	X	p22	UniSTS
Cytogenetic Map	20	p12.3-p11.21	UniSTS
Cytogenetic Map	2	q37.1	UniSTS
Cytogenetic Map	6	p25	UniSTS
Cytogenetic Map	X	q27.2	UniSTS
Cytogenetic Map	4	q31.1	UniSTS
Cytogenetic Map	4	q31	UniSTS
Cytogenetic Map	22	q13.1-q13.2	UniSTS
Cytogenetic Map	X	q28	UniSTS
Cytogenetic Map	1	p36.11	UniSTS
Cytogenetic Map	12	q13.3	UniSTS
Cytogenetic Map	3	q26.33	UniSTS
Cytogenetic Map	19	q13.4	UniSTS
Cytogenetic Map	14	q32	UniSTS
Cytogenetic Map	10	q24.3	UniSTS
Cytogenetic Map	16	q21	UniSTS
Cytogenetic Map	2	p13	UniSTS
Cytogenetic Map	19	q13.1	UniSTS
Cytogenetic Map	7	q21-q22	UniSTS
Cytogenetic Map	2	q11.2	UniSTS
Cytogenetic Map	17	q25.3	UniSTS
Cytogenetic Map	4	q22.1	UniSTS
Cytogenetic Map	11	q22.1	UniSTS
Cytogenetic Map	12	q14.2	UniSTS
Cytogenetic Map	20	p13	UniSTS
Cytogenetic Map	7	q36.3	UniSTS
Cytogenetic Map	20	q11.21-q11.23	UniSTS
Cytogenetic Map	2	q33.2	UniSTS
Cytogenetic Map	12	q22	UniSTS
Cytogenetic Map	20	q13.13	UniSTS
Cytogenetic Map	21	p11.1	UniSTS
Cytogenetic Map	1	p35-p34.3	UniSTS
Cytogenetic Map	7	p11.2	UniSTS
Cytogenetic Map	13	q14	UniSTS
Cytogenetic Map	7	q36.1	UniSTS
Cytogenetic Map	12	q24.31-q24.32	UniSTS
Cytogenetic Map	17	q21.1	UniSTS
Cytogenetic Map	3	q12.3	UniSTS
Cytogenetic Map	12	q	UniSTS
Cytogenetic Map	11	q13.5	UniSTS
Cytogenetic Map	2	p14	UniSTS
Cytogenetic Map	2	q14.3	UniSTS
Cytogenetic Map	7	q34	UniSTS
Cytogenetic Map	14	q32.1	UniSTS
Cytogenetic Map	21	q22.11	UniSTS
Cytogenetic Map	3	p14.1	UniSTS
Cytogenetic Map	16	q23.2	UniSTS
Cytogenetic Map	7	q32.1	UniSTS
Cytogenetic Map	17	q22	UniSTS
Cytogenetic Map	4	q31.23	UniSTS
Cytogenetic Map	11	p15.3	UniSTS
Cytogenetic Map	3	q27.1	UniSTS
Cytogenetic Map	2	p22.3	UniSTS
Cytogenetic Map	22	q13	UniSTS
Cytogenetic Map	1	q32	UniSTS
Cytogenetic Map	11	q14	UniSTS
Cytogenetic Map	X	q13.2	UniSTS
Cytogenetic Map	16	p13.12	UniSTS
Cytogenetic Map	X	q22.3	UniSTS
Cytogenetic Map	9	p12	UniSTS
Cytogenetic Map	4	p16.1	UniSTS
Cytogenetic Map	11	q23.1	UniSTS
Cytogenetic Map	3	q27.3	UniSTS
Cytogenetic Map	16	q23.1	UniSTS
Cytogenetic Map	15	q15.2	UniSTS
Cytogenetic Map	2	p21	UniSTS
Cytogenetic Map	13	q33.3	UniSTS
Cytogenetic Map	15	q22-q24	UniSTS
Cytogenetic Map	14	q32.11	UniSTS
Cytogenetic Map	7	p14.3	UniSTS
Cytogenetic Map	14	q21.2	UniSTS
Cytogenetic Map	15	q25.2	UniSTS
Cytogenetic Map	15	q23	UniSTS
Cytogenetic Map	2	p23.3	UniSTS
Cytogenetic Map	4	p15.31	UniSTS
Cytogenetic Map	1	q22	UniSTS
Cytogenetic Map	20	q13.1	UniSTS
Cytogenetic Map	15	q21.3	UniSTS
Cytogenetic Map	10	q23.33	UniSTS
Cytogenetic Map	4	q26	UniSTS
Cytogenetic Map	X	q24	UniSTS
Cytogenetic Map	10	q23.1	UniSTS
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	15	q22.1-q22.31	UniSTS
Cytogenetic Map	1	q31-q41	UniSTS
Cytogenetic Map	6	q23.3	UniSTS
Cytogenetic Map	7	q21.2	UniSTS
Cytogenetic Map	14	q23	UniSTS
Cytogenetic Map	12	q11-q12	UniSTS
Cytogenetic Map	17	q23.3	UniSTS
Cytogenetic Map	4	q24	UniSTS
Cytogenetic Map	1	p32	UniSTS
Cytogenetic Map	3	p21.1-p14.2	UniSTS
Cytogenetic Map	12	q22-q23.1	UniSTS
Cytogenetic Map	6	p22.1	UniSTS
Cytogenetic Map	6	q24.2	UniSTS
Cytogenetic Map	9	p13.3	UniSTS
Cytogenetic Map	6	p24.1	UniSTS
Cytogenetic Map	19	q13	UniSTS
Cytogenetic Map	20	q11.22-q11.23	UniSTS
Cytogenetic Map	3	p22.3	UniSTS
Cytogenetic Map	12	q12	UniSTS
Cytogenetic Map	X	q13-q21	UniSTS
Cytogenetic Map	9	q34.11	UniSTS
Cytogenetic Map	16	p13.13	UniSTS
Cytogenetic Map	10	pter-q25.3	UniSTS
Cytogenetic Map	9	p24.1	UniSTS
Cytogenetic Map	12	p13.2	UniSTS
Cytogenetic Map	12	q24	UniSTS
Cytogenetic Map	3	q28-q29	UniSTS
Cytogenetic Map	10	q26	UniSTS
Cytogenetic Map	6	p22.2	UniSTS
Cytogenetic Map	2	q13	UniSTS
Cytogenetic Map	12	q24.2-q24.31	UniSTS
Cytogenetic Map	22	q12.2	UniSTS
Cytogenetic Map	1	q32.2-q41	UniSTS
Cytogenetic Map	11	q22-q23	UniSTS
Cytogenetic Map	12	p13.3	UniSTS
Cytogenetic Map	1	p34.1	UniSTS
Cytogenetic Map	22	q11	UniSTS
Cytogenetic Map	2	q21.1	UniSTS
Cytogenetic Map	16	p13.11	UniSTS
Cytogenetic Map	1	q25.1	UniSTS
Cytogenetic Map	1	p36.3	UniSTS
Cytogenetic Map	9	p21	UniSTS
Cytogenetic Map	6	p21.3	UniSTS
Cytogenetic Map	1	q41	UniSTS
Cytogenetic Map	11	q13.1-q13.3	UniSTS
Cytogenetic Map	16	p13	UniSTS
Cytogenetic Map	15	q26	UniSTS
Cytogenetic Map	18	q21	UniSTS
Cytogenetic Map	4	p15.1-p14	UniSTS
Cytogenetic Map	8	q11.2	UniSTS
Cytogenetic Map	16	q22	UniSTS
Cytogenetic Map	15	q11-q13	UniSTS
Cytogenetic Map	7	p12.3	UniSTS
Cytogenetic Map	7	p13	UniSTS
Cytogenetic Map	15	q26.1	UniSTS
Cytogenetic Map	14	q22.1	UniSTS
Cytogenetic Map	2	q12.3	UniSTS
Cytogenetic Map	X	p22.12	UniSTS
Cytogenetic Map	20	q11.23	UniSTS
Cytogenetic Map	1	q21.1	UniSTS
Cytogenetic Map	1	p36.31	UniSTS
Cytogenetic Map	16	q11.2	UniSTS
Cytogenetic Map	14	q32.2	UniSTS
Cytogenetic Map	11	p15.4	UniSTS
Cytogenetic Map	22	q11.1	UniSTS
Cytogenetic Map	5	q33.2	UniSTS
Cytogenetic Map	14	q23.1	UniSTS
Cytogenetic Map	7	q32.3	UniSTS
Cytogenetic Map	20	q13.3	UniSTS
Cytogenetic Map	10	q26.13	UniSTS
Cytogenetic Map	1	p31.1	UniSTS
Cytogenetic Map	11	q13.4	UniSTS
Cytogenetic Map	11	q23.3	UniSTS
Cytogenetic Map	15	q25.1	UniSTS
Cytogenetic Map	9	p13	UniSTS
Cytogenetic Map	2	p24.2	UniSTS
Cytogenetic Map	9	q33.3	UniSTS
Cytogenetic Map	19	q13.31	UniSTS
Cytogenetic Map	11	q12.2	UniSTS
Cytogenetic Map	7	p15.3	UniSTS
Cytogenetic Map	6	p25.2	UniSTS
Cytogenetic Map	6	q25.1	UniSTS
Cytogenetic Map	3	p21.31	UniSTS
Cytogenetic Map	17	q23.2	UniSTS
Cytogenetic Map	X	q25	UniSTS
Cytogenetic Map	2	p25.1	UniSTS
Cytogenetic Map	1	q25.3	UniSTS
Cytogenetic Map	6	p24-p22.3	UniSTS
Cytogenetic Map	6	q21	UniSTS
Cytogenetic Map	16	p12.2	UniSTS
Cytogenetic Map	3	q21-q24	UniSTS
Cytogenetic Map	4	q13	UniSTS
Cytogenetic Map	11	p13	UniSTS
Cytogenetic Map	9	q34	UniSTS
Cytogenetic Map	8	q13.1	UniSTS
Cytogenetic Map	5	q21.2	UniSTS
Cytogenetic Map	4	q34.3	UniSTS
Cytogenetic Map	3	p22.1	UniSTS
Cytogenetic Map	2	q37.3	UniSTS
Cytogenetic Map	8	p23.1	UniSTS
Cytogenetic Map	1	p13.3	UniSTS
Cytogenetic Map	15	q14	UniSTS
Cytogenetic Map	13	q13.3	UniSTS
Cytogenetic Map	12	q13.2	UniSTS
Cytogenetic Map	1	q31	UniSTS
Cytogenetic Map	7	q11.21	UniSTS
Cytogenetic Map	10	q26.3	UniSTS
Cytogenetic Map	15	q15	UniSTS
Cytogenetic Map	X	p11.4	UniSTS
Cytogenetic Map	8	q24.12	UniSTS
Cytogenetic Map	15	q22	UniSTS
Cytogenetic Map	1	q25.2	UniSTS
Cytogenetic Map	13	q11-q12	UniSTS
Cytogenetic Map	10	q24.2	UniSTS
Cytogenetic Map	15	q21.1	UniSTS
Cytogenetic Map	15	q13.2	UniSTS
Cytogenetic Map	6	q25.2	UniSTS
Cytogenetic Map	14	q11.2	UniSTS
Cytogenetic Map	2	q33.1	UniSTS
Cytogenetic Map	6	q14.1	UniSTS
Cytogenetic Map	3	q23-q24	UniSTS
Cytogenetic Map	2	p25.1-p24.1	UniSTS
Cytogenetic Map	12	q14.3	UniSTS
Cytogenetic Map	6	q16.1	UniSTS
Cytogenetic Map	5	p13.1	UniSTS
Cytogenetic Map	5	q13	UniSTS
Cytogenetic Map	20	pter-p12	UniSTS
Cytogenetic Map	X	p22.11	UniSTS
Cytogenetic Map	16	p13.2	UniSTS
Cytogenetic Map	16	q22.3	UniSTS
Cytogenetic Map	7	q31.3	UniSTS
Cytogenetic Map	21	q22.13	UniSTS
Cytogenetic Map	1	p21	UniSTS
Cytogenetic Map	8	p11	UniSTS
Cytogenetic Map	7	p14.2	UniSTS
Cytogenetic Map	8	p11.23	UniSTS
Cytogenetic Map	18	p11.22	UniSTS
Cytogenetic Map	18	q21.33	UniSTS
Cytogenetic Map	9	p24.3	UniSTS
Cytogenetic Map	11	q22.3	UniSTS
Cytogenetic Map	14	q22.2	UniSTS
Cytogenetic Map	20	p11.22-p11.1	UniSTS
Cytogenetic Map	6	p21.31	UniSTS
Cytogenetic Map	14	q22.3	UniSTS
Cytogenetic Map	12	q15	UniSTS
Cytogenetic Map	7	q31	UniSTS
Cytogenetic Map	2	q12.2	UniSTS
Cytogenetic Map	8	p12	UniSTS
Cytogenetic Map	7	p22.1	UniSTS
Cytogenetic Map	6	p12.3	UniSTS
Cytogenetic Map	11	q12-q13	UniSTS
Cytogenetic Map	18	q21.1	UniSTS
Cytogenetic Map	10	p11.21	UniSTS
Cytogenetic Map	6	p22-p21	UniSTS
Cytogenetic Map	17	q21.1-q21.3	UniSTS
Cytogenetic Map	12	q24.33	UniSTS
Cytogenetic Map	4	p15.32	UniSTS
Cytogenetic Map	1	q42.13	UniSTS
Cytogenetic Map	19	q12	UniSTS
Cytogenetic Map	3	p14.3	UniSTS
Cytogenetic Map	12	p13.2-p12.3	UniSTS
Cytogenetic Map	9	q22.32	UniSTS
Cytogenetic Map	1	p36.3-p36.2	UniSTS
Cytogenetic Map	5	q22.2	UniSTS
Cytogenetic Map	4	p15.2	UniSTS
Cytogenetic Map	4	p15.3	UniSTS
Cytogenetic Map	4	q28.1	UniSTS
Cytogenetic Map	12	q13.1-q13.2	UniSTS
Cytogenetic Map	19	q13.33	UniSTS
Cytogenetic Map	1	p31	UniSTS
Cytogenetic Map	17	p13.2	UniSTS
Cytogenetic Map	15	q15.3	UniSTS
Cytogenetic Map	13	q14.11	UniSTS
Cytogenetic Map	9	p22.3	UniSTS
Cytogenetic Map	8	q22.2	UniSTS
Cytogenetic Map	8	q21.11	UniSTS
Cytogenetic Map	22	q12.1	UniSTS
Cytogenetic Map	3	q13.2	UniSTS
Cytogenetic Map	2	q35	UniSTS
Cytogenetic Map	2	q33.3	UniSTS
Cytogenetic Map	8	p22	UniSTS
Cytogenetic Map	10	q22.2	UniSTS
Cytogenetic Map	20	p12.1	UniSTS
Cytogenetic Map	6	q13	UniSTS
Cytogenetic Map	6	q22.32	UniSTS
Cytogenetic Map	5	q34	UniSTS
Cytogenetic Map	5	p15.2	UniSTS
Cytogenetic Map	5	q11.2	UniSTS
Cytogenetic Map	2	q36.1	UniSTS
Cytogenetic Map	18	q11.2	UniSTS
Cytogenetic Map	18	q12.2	UniSTS
Cytogenetic Map	14	q21.3	UniSTS
Cytogenetic Map	13	q33.1	UniSTS
Cytogenetic Map	12	p11.21	UniSTS
Cytogenetic Map	12	q23.1	UniSTS
Cytogenetic Map	16	p12.1	UniSTS
Cytogenetic Map	2	q33	UniSTS
Cytogenetic Map	5	q12.1	UniSTS
Cytogenetic Map	12	q24.13	UniSTS
Cytogenetic Map	13	q14.2	UniSTS
Cytogenetic Map	7	q36	UniSTS
Cytogenetic Map	10	q22.3-q23.2	UniSTS
Cytogenetic Map	7	p15	UniSTS
Cytogenetic Map	14	q32.31	UniSTS
Cytogenetic Map	11	q21	UniSTS
Cytogenetic Map	4	q21.3	UniSTS
Cytogenetic Map	7	p13-p12	UniSTS
Cytogenetic Map	8	p21.2	UniSTS
Cytogenetic Map	4	q22	UniSTS
Cytogenetic Map	11	q13	UniSTS
Cytogenetic Map	3	q12.1	UniSTS
Cytogenetic Map	7	q21.1-q22	UniSTS
Cytogenetic Map	17	q21	UniSTS
Cytogenetic Map	3	q13.13-q13.2	UniSTS
Cytogenetic Map	3	p21.3	UniSTS
Cytogenetic Map	13	q32.2	UniSTS
Cytogenetic Map	3	q26.32	UniSTS
Cytogenetic Map	15	q	UniSTS
Cytogenetic Map	2	p13.2	UniSTS
Cytogenetic Map	3	p12.3	UniSTS
Cytogenetic Map	10	q11.23	UniSTS
Cytogenetic Map	3	q11.2	UniSTS
Cytogenetic Map	12	q13.11	UniSTS
Cytogenetic Map	13	q14.13	UniSTS
Cytogenetic Map	10	q23	UniSTS
Cytogenetic Map	11	p11.2	UniSTS
Cytogenetic Map	6	q16.2	UniSTS
Cytogenetic Map	3	q21.1	UniSTS
Cytogenetic Map	10	q11.21	UniSTS
Cytogenetic Map	1	p13.2	UniSTS
Cytogenetic Map	6	p24.2	UniSTS
Cytogenetic Map	20	q13.33	UniSTS

D4S402

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	4	q26	UniSTS
TNG Radiation Hybrid Map	4	73797.0	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2436	2788	2253	4972	1726	2351	6	624	1943	465	2269	7296	6463	53	3733	1	852	1744	1617	174	1


RefSeq Transcripts	NM_001371395	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001371396	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001371397	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001371398	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001371399	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001389658	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001389659	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001389660	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001389661	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001389662	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001389663	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001389664	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001389665	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001389666	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001389667	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_019050	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005263075	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005263076	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005263077	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_006714240	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011532037	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011532038	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017008313	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017008314	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017008315	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047415826	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047415827	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047415828	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047415829	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047415830	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047415831	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047415832	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047415833	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047415834	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047415835	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047415836	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047415837	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054350250	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054350251	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054350252	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054350253	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054350254	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054350255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054350256	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054350257	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054350258	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054350259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054350260	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054350261	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054350262	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054350263	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054350264	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054350265	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054350266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB037771	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC092656	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF085848	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ583824	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK022799	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK025233	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK025301	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC017382	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC062741	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ019723	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX648339	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX648836	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CD721951	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471229	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068274	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR749490	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA859085	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA886370	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HF584117	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF457806	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF457812	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000274030 ⟹ ENSP00000274030

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	119,212,713 - 119,294,708 (+)	Ensembl

Ensembl Acc Id:

ENST00000450251 ⟹ ENSP00000409906

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	119,212,713 - 119,295,518 (+)	Ensembl

Ensembl Acc Id:

ENST00000507597

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	119,212,741 - 119,239,341 (+)	Ensembl

Ensembl Acc Id:

ENST00000507906 ⟹ ENSP00000421729

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	119,261,793 - 119,271,353 (+)	Ensembl

Ensembl Acc Id:

ENST00000509769 ⟹ ENSP00000426628

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	119,239,640 - 119,294,638 (+)	Ensembl

Ensembl Acc Id:

ENST00000510737

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	119,213,179 - 119,239,312 (+)	Ensembl

Ensembl Acc Id:

ENST00000510852

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	119,267,381 - 119,273,330 (+)	Ensembl

Ensembl Acc Id:

ENST00000514305

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	119,212,743 - 119,220,211 (+)	Ensembl

Ensembl Acc Id:

ENST00000514665

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	119,212,587 - 119,221,495 (+)	Ensembl

Ensembl Acc Id:

ENST00000688980 ⟹ ENSP00000509357

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	119,212,845 - 119,291,217 (+)	Ensembl

Ensembl Acc Id:

ENST00000692078 ⟹ ENSP00000509606

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	119,212,713 - 119,295,518 (+)	Ensembl

RefSeq Acc Id:

NM_001371395 ⟹ NP_001358324

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	119,212,713 - 119,295,518 (+)	NCBI
T2T-CHM13v2.0	4	122,517,784 - 122,600,620 (+)	NCBI

Sequence:

show sequence

AGTTCCCGGTGAGCCTCGGTACTGTGGCAGCAGTCAGTGTGTCTGGCGGGTGTCGGCGTGAAGCGGGGCTGGGCCAGCGGGAGGTAGCTCTGTGGGAGTGGAAGGCCTGTATTTCTCTACCTGGACCG
CACGCTCCTCGCGCAAGGAGGGTAGAGCTCAAGTTCCGTGATGATGGTCTAAGCAAAGACCCTTCGTCCTGTTAAAGATAAATTAAAAAAAAAAAAAAAAAACCAAAGGGAACAAAACTTACTCTGCA
AAAGTAATATATGATTTACCTGCTGTTGTCATAAGAATTCCAAATAGACAAACTCGGTATGCTTGGGATTTGCTTTACATTCTAAGTGGATTTGGAGAAGAGACAATAAAGAATAAGCAGTCAATTCT
ATAATATATTTAGAAGGAGAAAAGTGCCAAGGAGGAATGAAAAAGTAGAACAAGAGACAGCATCTTGCTGCCACCCAGGCTGGAGTGCAGTGGTGCAGTCTTAGCTTACTGCAGCCTCAAACTTCTGG
GCTCAAGTAATCCTCCCGCCTCAGCTTCCTGAGTAGCTGAGATTACAGATTTGCTTTGAGGTCACATTGATATGAAATATGGAGTCACCTTTTATAACTTCACCTGGGAAAGAGAGAGAAAACTTTCT
TGTTAAAAAAACATAAGGAAAACAAACAACCAAAGGAATCATGCCAAATGCCAACTCTACATCTTTTTGTATTATTAACATATTTTATGCATCAAGACAAATGGCTTATGCATTAAAGGGGATGATTC
GTTCATCAGTATTTTTAGCCATTAAAAAAAATCGTTTTCATATTAACCTTATACAGCTCCCATAAAATTTAACACATATAAACATCTTTAACGCCTTGTTTAAAATAGCTTTCTTTTTTAGTGCTTAG
AACTTCAATGTTTATGCACCCTATTGTTACTTGTCAGAGTCTTTAAGAGTTTATAACATCAGGAAAGATATGGACTTGGAAACTTACATTATTAAAATAGACTGCAGTGGATTTAATTGGACAATTCA
AGACATCCATTTTATTGTCCAAAATATTACATAAAAGTGTACAGTTTTTAGCCTAAATGCAAACAAAGTTGCTTGAAAATGGCATGGGTAAAATTCTTACGGAAACCTGGTGGCAATCTTGGAAAAGT
TTATCAGCCTGGAAGTATGCTATCACTAGCCCCTACCAAAGGCTTGTTAAATGAACCAGGACAAAACAGCTGCTTTCTTAATAGCGCTGTACAGGTTTTATGGCAATTGGATATATTCCGACGAAGCT
TGCGGGTTTTGACTGGACATGTTTGTCAGGGAGATGCCTGTATATTTTGTGCATTGAAGACGATATTTGCACAGTTCCAACACAGTCGAGAAAAAGCACTTCCCTCAGATAACATAAGGCATGCTCTT
GCAGAAAGTTTCAAAGATGAGCAGCGATTTCAACTTGGCCTTATGGATGATGCTGCGGAGTGCTTTGAAAATATGTTGGAGAGGATTCATTTTCACATAGTGCCAAGCAGAGATGCAGACATGTGTAC
CTCTAAATCTTGTATCACTCACCAGAAGTTTGCTATGACTCTGTATGAACAGTGTGTGTGTCGTAGCTGTGGAGCATCGTCAGATCCTCTACCTTTTACAGAATTTGTGCGGTACATTTCTACAACAG
CCTTATGCAATGAGGTTGAAAGAATGTTGGAAAGGCATGAACGCTTTAAACCTGAAATGTTTGCAGAATTGCTACAAGCAGCAAATACAACAGATGACTATAGGAAATGTCCTAGTAACTGTGGCCAA
AAAATAAAAATTCGCCGTGTTTTAATGAATTGCCCAGAGATTGTTACAATTGGTTTAGTCTGGGACTCCGAGCATTCTGACTTGACCGAAGCTGTTGTTCGGAATCTAGCAACACATCTTTATCTTCC
TGGGCTTTTTTATAGAGTTACTGATGAAAATGCCAAAAATAGTGAACTTAACCTTGTTGGTATGATCTGCTACACCAGCCAACATTATTGTGCCTTTGCATTTCACACCAAAAGTTCCAAATGGGTAT
TTTTTGATGATGCAAATGTGAAAGAGATTGGAACTAGATGGAAAGATGTTGTCTCCAAATGCATTCGATGCCACTTTCAGCCACTACTTTTGTTTTATGCAAACCCAGATGGCACAGCAGTTTCTACT
GAGGATGCACTCAGGCAGGTCATCAGCTGGTCACATTACAAATCTGTTGCAGAAAATATGGGATGTGAAAAGCCTGTAATTCATAAGTCAGATAATTTAAAAGAAAATGGATTTGGTGATCAGGCAAA
GCAGAGAGAAAATCAGAAATTTCCAACTGATAATATTTCATCATCTAATCGGAGCCACAGTCACACAGGTGTAGGGAAAGGACCAGCTAAGTTAAGTCACATTGATCAAAGGGAAAAGATAAAAGACA
TTTCCAGAGAATGTGCTCTGAAAGCTATTGAACAGAAAAACTTACTTTCTTCACAAAGGAAAGATTTAGAGAAGGGACAAAGAAAAGATTTAGGACGACATAGAGATTTGGTTGATGAAGACCTTTCA
CATTTCCAATCTGGATCACCTCCTGCCCCAAATGGTTTTAAACAACATGGGAATCCACATCTATATCATAGTCAAGGAAAAGGATCATATAAACATGACCGAGTTGTACCTCAGAGTCGAGCTTCTGC
ACAAATAATAAGTTCAAGTAAATCCCAGATTCTTGCTCCAGGAGAGAAAATAACTGGCAAAGTTAAGAGTGACAATGGCACTGGATATGACACAGACAGCAGCCAAGATTCTAGGGATAGAGGAAACA
GCTGTGATAGCAGCAGTAAAAGCCGGAACCGAGGTTGGAAACCTATGAGAGAAACATTAAATGTTGATAGTATTTTTAGTGAAAGTGAAAAAAGACAGCATAGTCCAAGACATAAACCAAATATCAGT
AATAAGCCTAAATCTAGCAAGGATCCGAGTTTTAGTAATTGGCCAAAAGAGAATCCAAAGCAAAAAGGTTTAATGACCATATATGAAGATGAAATGAAGCAGGAAATAGGAAGCAGAAGTTCCCTTGA
ATCTAATGGAAAAGGAGCAGAGAAAAATAAAGGCCTTGTAGAGGGTAAAGTGCATGGTGATAATTGGCAGATGCAAAGGACTGAGTCTGGATATGAAAGCAGTGATCACATCAGTAATGGTTCTACTA
ATTTGGACTCACCTGTTATCGATGGAAATGGTACAGTAATGGATATCAGTGGTGTTAAAGAAACAGTATGCTTCAGTGACCAGATTACGACAAGCAACCTAAATAAAGAACGTGGGGACTGTACCTCC
CTTCAGAGCCAACATCACTTAGAAGGCTTTAGAAAAGAACTCAGGAATTTGGAAGCAGGCTATAAATCTCATGAATTCCACCCAGAATCACATTTACAAATAAAAAATCATTTGATAAAAAGATCACA
TGTACATGAAGACAATGGAAAGTTATTTCCTTCATCCAGTCTACAAATACCCAAGGACCATAATGCAAGAGAACATATCCACCAGTCAGATGAACAGAAACTTGAAAAACCGAATGAATGCAAATTTT
CTGAGTGGCTTAATATAGAAAATTCTGAGAGAACAGGTTTGCCTTTTCACGTTGATAACTCTGCTTCTGGGAAGAGAGTGAACAGTAATGAACCATCTTCATTATGGTCTTCACACCTAAGAACTGTT
GGGTTAAAGCCAGAAACTGCTCCTCTCATCCAGCAACAAAATATCATGGATCAATGTTACTTTGAGAACTCTCTATCCACAGAATGTATAATTCGGTCAGCCAGCAGATCTGATGGGTGTCAGATGCC
AAAACTTTTTTGCCAGAATCTACCACCCCCTTTGCCACCAAAGAAATATGCTATAACCAGTGTGCCACAGTCAGAGAAAAGCGAATCTACACCTGATGTCAAACTTACAGAGGTGTTTAAAGCTACCT
CTCATCTTCCGAAGCACAGTTTAAGTACAGCTTCAGAACCAAGTTTAGAAGTGAGTACACATATGAATGATGAAAGACATAAAGAAACATTTCAAGTGAGAGAATGTTTTGGCAACACACCAAACTGT
CCATCCAGCTCCTCAACTAACGATTTTCAGGCAAACTCAGGTGCCATTGATGCATTTTGCCAACCAGAACTAGACTCTATTTCTACCTGTCCAAATGAGACAGTTTCATTAACTACCTATTTTTCAGT
TGATAGCTGCATGACGGATACATATAGATTGAAATACCATCAGAGGCCCAAGCTCTCTTTTCCAGAGAGCAGTGGCTTTTGTAATAATTCACTATCTTAGAGTGAAAAAGGACTAGACCTGTGTTACA
TAATAATCTTGGTTCAAGCTGCCCTTCTGAACAAAGATATAAACCTAGCATACATTGTAATAGATAACTGGTAAAACTGACCAACTTTTACTTCTCAGAGGCCATTTAAATATAATAGGAACCTACTG
ACCAAACCTAGTGATACATAAAATTAAAGCCTGTGGCATTTTTAAAGTTGTTAATCACTATACATATGTATGTGTATATGTGTATACACATATATAATTTTATGATCAATATCTTAGATATTTTAGAA
ATTCCCTTTGAATAGTCTTGGCGTGCCGTGAAAAATAGAAAATCAGGGAGATATAATAATTCATTTGTCATATGCTACAGTTGAATAAAAATTAAATTTGTCCCCCTATTTTGTGGCCAGTAGACTGG
GAAGTATTAAACTAACCAGTACTCATGTATGGAGATTATAAACTATGCTAATTGAAAAGTACCAGGTGATACATAGCCTGGTACTTTTTTGTCAAAGAATTGCTTTATGAAGAAGCACTTTCTAATGG
GTAACCAGAAAAGGGCTTCACCCATTTGTTTTTGACTTCTATGATAGTCACTGCATATGATCCCTTTAAGTGTCTTTAAAAAAAATGACTTATGAATTTGATAGCATTTGGGGAAAAAAAGCCTTATA
TGATTAACAATTTGTAAGTTTTCAAGATCGGATGGAATTTAATTTTGCTCCTAGAATTTTTGTCTTCAGAATATCTAGTTAAGATAAATTAGGCCTTTGACTATTATAGGTATTCATAAATGCTACTT
TAGCCATGTAAGTTAAAAAGTTAAAATACTTAAACTTTAGTGTATTTATTTATCTCGTTACTTTTTTTCTAATTTTATATGAAATGTGAAAGGTCTTTATTTTGGTTTGGTTTACTTTGGGCTGCTAA
CCACCAGTGTTAGGAATTAATGTAGGGCACCCTCTTATTGGGAATGTCACTGTAATTGCCTACATTTTCTTTGCTGTAATATTACCTGCTTATAGGTTGTCAACCCATTTTATCTGAATTTGAAAATC
TATCTAGGTTTCCAGATTAAATTTCTACCTTTCATATAGAGAGTTTAATTTTAATAAAATGTTTAATTAGAGCATCCTTCCCTTTTATTCTACTTTGAACAAATAGTAATTTTACCCCAACTACTTTT
CATGAAGAGTGCTTTGAAAATTAAAGGAATTTTTATTATTATGGTAACCTTATGAGTAAAAATAAGTTACTTTAATTGCTTTATTTCGTTAGTTGTCATTTTATTTTGTACTATGCTGGTAAACTAAT
TGTGGTTTAGAATAGTTTTATGTTCACTCCTGATAACTGAGAAACAGAACTAAAGTTTTCCTTACATTGCTAAATGGATAAACCTCATATTCAATAAACTAGTAAATGTAGCCACTTGACTGATTGCG
TAAATCGTGTTAAAACATTCTAAAATGTTGTAACTAATTTAATGTGAATACTGTTAAACAGAAAATAATTGCTTATAAAAGTCTAACTTCACCCAGTTACCAAGTCTTGGCCAAATTTTATCTTCTGC
CTATAGTTTTTACTAGCCTTTTTAAACTATAATAGTGAGTGATCATTACTTTATATTCTCGTAAGTTAGAAATACTTGAATGCCAAATTAATTTTGTTTTAAGAAAGCTTATTTTTAACATAATTTTT
TAGTGTGGAGGGTTTGTAAATAATGTAAAGTTTGTAAACCTGTATTTAAAATACCAAAGTTTTTCTTCTTTTATAACATTGTAAGATACTAGAAAAATGGGCTTCAAGTTTTTTAATAGCTTTCACAG
TTTGTGTAGTTTTTTTTTTCTATTTGGTTAAGATGTGAGTTGGAAATGTATTATTTGAAACATTTAAACTAATTTTTGTATTTAACAGCAGTCTCAGACATTTGTCTTTTCAACTCAGTTGAGTTGTA
GATATCAAATAGAAATGTCCAGTTTTGCCTCTTTTAAGTACTGTCCAGTTGAAACCTCCTGACTCATGTACTACTACACAAACTAGAAAATGCCCATTTATTTTTGTTGATTCAACACTCCAGATACA
GATTGATACATATATACTAATCATTTTATTTCATGTAAAAGTTTTACATCTAGGGTGCCTATTTATTTTTATAGATGCTTTCATCCAGTTATAAGCTTATTATAACTTTGTAAATATTTCAGCCAACA
GTTGTAATGTTTAAAATACTTACCTTCAGAATGTTATATTTTCATGTGAAATCAATTTCTTCTAATTCAAAAAAATTTTAAGATAAACTGATTTTTAAGTTTA

hide sequence

RefSeq Acc Id:

NM_001371396 ⟹ NP_001358325

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	119,212,713 - 119,295,518 (+)	NCBI
T2T-CHM13v2.0	4	122,517,784 - 122,600,620 (+)	NCBI

Sequence:

show sequence

AGTTCCCGGTGAGCCTCGGTACTGTGGCAGCAGTCAGTGTGTCTGGCGGGTGTCGGCGTGAAGCGGGGCTGGGCCAGCGGGAGGTAGCTCTGTGGGAGTGGAAGGCCTGTATTTCTCTACCTGGACCG
CACGCTCCTCGCGCAAGGAGGGTAGAGCTCAAGATGCTTGGGATTTGCTTTACATTCTAAGTGGATTTGGAGAAGAGACAATAAAGAATAAGCAGTCAATTCTATAATATATTTAGAAGGAGAAAAGT
GCCAAGGAGGAATGAAAAAGTAGAACAAGATTTGCTTTGAGGTCACATTGATATGAAATATGGAGTCACCTTTTATAACTTCACCTGGGAAAGAGAGAGAAAACTTTCTTGTTAAAAAAACATAAGGA
AAACAAACAACCAAAGGAATCATGCCAAATGCCAACTCTACATCTTTTTGTATTATTAACATATTTTATGCATCAAGACAAATGGCTTATGCATTAAAGGGGATGATTCGTTCATCAGTATTTTTAGC
CATTAAAAAAAATCGTTTTCATATTAACCTTATACAGCTCCCATAAAATTTAACACATATAAACATCTTTAACGCCTTGTTTAAAATAGCTTTCTTTTTTAGTGCTTAGAACTTCAATGTTTATGCAC
CCTATTGTTACTTGTCAGAGTCTTTAAGAGTTTATAACATCAGGAAAGATATGGACTTGGAAACTTACATTATTAAAATAGACTGCAGTGGATTTAATTGGACAATTCAAGACATCCATTTTATTGTC
CAAAATATTACATAAAAGTGTACAGTTTTTAGCCTAAATGCAAACAAAGTTGCTTGAAAATGGCATGGGTAAAATTCTTACGGAAACCTGGTGGCAATCTTGGAAAAGTTTATCAGCCTGGAAGTATG
CTATCACTAGCCCCTACCAAAGGCTTGTTAAATGAACCAGGACAAAACAGCTGCTTTCTTAATAGCGCTGTACAGGTTTTATGGCAATTGGATATATTCCGACGAAGCTTGCGGGTTTTGACTGGACA
TGTTTGTCAGGGAGATGCCTGTATATTTTGTGCATTGAAGACGATATTTGCACAGTTCCAACACAGTCGAGAAAAAGCACTTCCCTCAGATAACATAAGGCATGCTCTTGCAGAAAGTTTCAAAGATG
AGCAGCGATTTCAACTTGGCCTTATGGATGATGCTGCGGAGTGCTTTGAAAATATGTTGGAGAGGATTCATTTTCACATAGTGCCAAGCAGAGATGCAGACATGTGTACCTCTAAATCTTGTATCACT
CACCAGAAGTTTGCTATGACTCTGTATGAACAGTGTGTGTGTCGTAGCTGTGGAGCATCGTCAGATCCTCTACCTTTTACAGAATTTGTGCGGTACATTTCTACAACAGCCTTATGCAATGAGGTTGA
AAGAATGTTGGAAAGGCATGAACGCTTTAAACCTGAAATGTTTGCAGAATTGCTACAAGCAGCAAATACAACAGATGACTATAGGAAATGTCCTAGTAACTGTGGCCAAAAAATAAAAATTCGCCGTG
TTTTAATGAATTGCCCAGAGATTGTTACAATTGGTTTAGTCTGGGACTCCGAGCATTCTGACTTGACCGAAGCTGTTGTTCGGAATCTAGCAACACATCTTTATCTTCCTGGGCTTTTTTATAGAGTT
ACTGATGAAAATGCCAAAAATAGTGAACTTAACCTTGTTGGTATGATCTGCTACACCAGCCAACATTATTGTGCCTTTGCATTTCACACCAAAAGTTCCAAATGGGTATTTTTTGATGATGCAAATGT
GAAAGAGATTGGAACTAGATGGAAAGATGTTGTCTCCAAATGCATTCGATGCCACTTTCAGCCACTACTTTTGTTTTATGCAAACCCAGATGGCACAGCAGTTTCTACTGAGGATGCACTCAGGCAGG
TCATCAGCTGGTCACATTACAAATCTGTTGCAGAAAATATGGCTAAGTTAAGTCACATTGATCAAAGGGAAAAGATAAAAGACATTTCCAGAGAATGTGCTCTGAAAGCTATTGAACAGAAAAACTTA
CTTTCTTCACAAAGGAAAGATTTAGAGAAGGGACAAAGAAAAGATTTAGGACGACATAGAGATTTGGTTGATGAAGACCTTTCACATTTCCAATCTGGATCACCTCCTGCCCCAAATGGTTTTAAACA
ACATGGGAATCCACATCTATATCATAGTCAAGGAAAAGGATCATATAAACATGACCGAGTTGTACCTCAGAGTCGAGCTTCTGCACAAATAATAAGTTCAAGTAAATCCCAGATTCTTGCTCCAGGAG
AGAAAATAACTGGCAAAGTTAAGAGTGACAATGGCACTGGATATGACACAGACAGCAGCCAAGATTCTAGGGATAGAGGAAACAGCTGTGATAGCAGCAGTAAAAGCCGGAACCGAGGTTGGAAACCT
ATGAGAGAAACATTAAATGTTGATAGTATTTTTAGTGAAAGTGAAAAAAGACAGCATAGTCCAAGACATAAACCAAATATCAGTAATAAGCCTAAATCTAGCAAGGATCCGAGTTTTAGTAATTGGCC
AAAAGAGAATCCAAAGCAAAAAGGTTTAATGACCATATATGAAGATGAAATGAAGCAGGAAATAGGAAGCAGAAGTTCCCTTGAATCTAATGGAAAAGGAGCAGAGAAAAATAAAGGCCTTGTAGAGG
GTAAAGTGCATGGTGATAATTGGCAGATGCAAAGGACTGAGTCTGGATATGAAAGCAGTGATCACATCAGTAATGGTTCTACTAATTTGGACTCACCTGTTATCGATGGAAATGGTACAGTAATGGAT
ATCAGTGGTGTTAAAGAAACAGTATGCTTCAGTGACCAGATTACGACAAGCAACCTAAATAAAGAACGTGGGGACTGTACCTCCCTTCAGAGCCAACATCACTTAGAAGGCTTTAGAAAAGAACTCAG
GAATTTGGAAGCAGGCTATAAATCTCATGAATTCCACCCAGAATCACATTTACAAATAAAAAATCATTTGATAAAAAGATCACATGTACATGAAGACAATGGAAAGTTATTTCCTTCATCCAGTCTAC
AAATACCCAAGGACCATAATGCAAGAGAACATATCCACCAGTCAGATGAACAGAAACTTGAAAAACCGAATGAATGCAAATTTTCTGAGTGGCTTAATATAGAAAATTCTGAGAGAACAGGTTTGCCT
TTTCACGTTGATAACTCTGCTTCTGGGAAGAGAGTGAACAGTAATGAACCATCTTCATTATGGTCTTCACACCTAAGAACTGTTGGGTTAAAGCCAGAAACTGCTCCTCTCATCCAGCAACAAAATAT
CATGGATCAATGTTACTTTGAGAACTCTCTATCCACAGAATGTATAATTCGGTCAGCCAGCAGATCTGATGGGTGTCAGATGCCAAAACTTTTTTGCCAGAATCTACCACCCCCTTTGCCACCAAAGA
AATATGCTATAACCAGTGTGCCACAGTCAGAGAAAAGCGAATCTACACCTGATGTCAAACTTACAGAGGTGTTTAAAGCTACCTCTCATCTTCCGAAGCACAGTTTAAGTACAGCTTCAGAACCAAGT
TTAGAAGTGAGTACACATATGAATGATGAAAGACATAAAGAAACATTTCAAGTGAGAGAATGTTTTGGCAACACACCAAACTGTCCATCCAGCTCCTCAACTAACGATTTTCAGGCAAACTCAGGTGC
CATTGATGCATTTTGCCAACCAGAACTAGACTCTATTTCTACCTGTCCAAATGAGACAGTTTCATTAACTACCTATTTTTCAGTTGATAGCTGCATGACGGATACATATAGATTGAAATACCATCAGA
GGCCCAAGCTCTCTTTTCCAGAGAGCAGTGGCTTTTGTAATAATTCACTATCTTAGAGTGAAAAAGGACTAGACCTGTGTTACATAATAATCTTGGTTCAAGCTGCCCTTCTGAACAAAGATATAAAC
CTAGCATACATTGTAATAGATAACTGGTAAAACTGACCAACTTTTACTTCTCAGAGGCCATTTAAATATAATAGGAACCTACTGACCAAACCTAGTGATACATAAAATTAAAGCCTGTGGCATTTTTA
AAGTTGTTAATCACTATACATATGTATGTGTATATGTGTATACACATATATAATTTTATGATCAATATCTTAGATATTTTAGAAATTCCCTTTGAATAGTCTTGGCGTGCCGTGAAAAATAGAAAATC
AGGGAGATATAATAATTCATTTGTCATATGCTACAGTTGAATAAAAATTAAATTTGTCCCCCTATTTTGTGGCCAGTAGACTGGGAAGTATTAAACTAACCAGTACTCATGTATGGAGATTATAAACT
ATGCTAATTGAAAAGTACCAGGTGATACATAGCCTGGTACTTTTTTGTCAAAGAATTGCTTTATGAAGAAGCACTTTCTAATGGGTAACCAGAAAAGGGCTTCACCCATTTGTTTTTGACTTCTATGA
TAGTCACTGCATATGATCCCTTTAAGTGTCTTTAAAAAAAATGACTTATGAATTTGATAGCATTTGGGGAAAAAAAGCCTTATATGATTAACAATTTGTAAGTTTTCAAGATCGGATGGAATTTAATT
TTGCTCCTAGAATTTTTGTCTTCAGAATATCTAGTTAAGATAAATTAGGCCTTTGACTATTATAGGTATTCATAAATGCTACTTTAGCCATGTAAGTTAAAAAGTTAAAATACTTAAACTTTAGTGTA
TTTATTTATCTCGTTACTTTTTTTCTAATTTTATATGAAATGTGAAAGGTCTTTATTTTGGTTTGGTTTACTTTGGGCTGCTAACCACCAGTGTTAGGAATTAATGTAGGGCACCCTCTTATTGGGAA
TGTCACTGTAATTGCCTACATTTTCTTTGCTGTAATATTACCTGCTTATAGGTTGTCAACCCATTTTATCTGAATTTGAAAATCTATCTAGGTTTCCAGATTAAATTTCTACCTTTCATATAGAGAGT
TTAATTTTAATAAAATGTTTAATTAGAGCATCCTTCCCTTTTATTCTACTTTGAACAAATAGTAATTTTACCCCAACTACTTTTCATGAAGAGTGCTTTGAAAATTAAAGGAATTTTTATTATTATGG
TAACCTTATGAGTAAAAATAAGTTACTTTAATTGCTTTATTTCGTTAGTTGTCATTTTATTTTGTACTATGCTGGTAAACTAATTGTGGTTTAGAATAGTTTTATGTTCACTCCTGATAACTGAGAAA
CAGAACTAAAGTTTTCCTTACATTGCTAAATGGATAAACCTCATATTCAATAAACTAGTAAATGTAGCCACTTGACTGATTGCGTAAATCGTGTTAAAACATTCTAAAATGTTGTAACTAATTTAATG
TGAATACTGTTAAACAGAAAATAATTGCTTATAAAAGTCTAACTTCACCCAGTTACCAAGTCTTGGCCAAATTTTATCTTCTGCCTATAGTTTTTACTAGCCTTTTTAAACTATAATAGTGAGTGATC
ATTACTTTATATTCTCGTAAGTTAGAAATACTTGAATGCCAAATTAATTTTGTTTTAAGAAAGCTTATTTTTAACATAATTTTTTAGTGTGGAGGGTTTGTAAATAATGTAAAGTTTGTAAACCTGTA
TTTAAAATACCAAAGTTTTTCTTCTTTTATAACATTGTAAGATACTAGAAAAATGGGCTTCAAGTTTTTTAATAGCTTTCACAGTTTGTGTAGTTTTTTTTTTCTATTTGGTTAAGATGTGAGTTGGA
AATGTATTATTTGAAACATTTAAACTAATTTTTGTATTTAACAGCAGTCTCAGACATTTGTCTTTTCAACTCAGTTGAGTTGTAGATATCAAATAGAAATGTCCAGTTTTGCCTCTTTTAAGTACTGT
CCAGTTGAAACCTCCTGACTCATGTACTACTACACAAACTAGAAAATGCCCATTTATTTTTGTTGATTCAACACTCCAGATACAGATTGATACATATATACTAATCATTTTATTTCATGTAAAAGTTT
TACATCTAGGGTGCCTATTTATTTTTATAGATGCTTTCATCCAGTTATAAGCTTATTATAACTTTGTAAATATTTCAGCCAACAGTTGTAATGTTTAAAATACTTACCTTCAGAATGTTATATTTTCA
TGTGAAATCAATTTCTTCTAATTCAAAAAAATTTTAAGATAAACTGATTTTTAAGTTTA

hide sequence

RefSeq Acc Id:

NM_001371397 ⟹ NP_001358326

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	119,212,713 - 119,295,518 (+)	NCBI
T2T-CHM13v2.0	4	122,517,784 - 122,600,620 (+)	NCBI

Sequence:

show sequence

AGTTCCCGGTGAGCCTCGGTACTGTGGCAGCAGTCAGTGTGTCTGGCGGGTGTCGGCGTGAAGC
GGGGCTGGGCCAGCGGGAGGTAGCTCTGTGGGAGTGGAAGGCCTGTATTTCTCTACCTGGACCGCACGCTCCTCGCGCAAGGAGGGTAGAGCTCAAGATGCTTGGGATTTGCTTTACATTCTAAGTGG
ATTTGGAGAAGAGACAATAAAGAATAAGCAGTCAATTCTATAATATATTTAGAAGGAGAAAAGTGCCAAGGAGGAATGAAAAAGTAGAACAAGATTTGCTTTGAGGTCACATTGATATGAAATATGGA
GTCACCTTTTATAACTTCACCTGGGAAAGAGAGAGAAAACTTTCTTGTTAAAAAAACATAAGGAAAACAAACAACCAAAGGAATCATGCCAAATGCCAACTCTACATCTTTTTGTATTATTAACATAT
TTTATGCATCAAGACAAATGGCTTATGCATTAAAGGGGATGATTCGTTCATCAGTATTTTTAGCCATTAAAAAAAATCGTTTTCATATTAACCTTATACAGCTCCCATAAAATTTAACACATATAAAC
ATCTTTAACGCCTTGTTTAAAATAGCTTTCTTTTTTAGTGCTTAGAACTTCAATGTTTATGCACCCTATTGTTACTTGTCAGAGTCTTTAAGAGTTTATAACATCAGGAAAGATATGGACTTGGAAAC
TTACATTATTAAAATAGACTGCAGTGGATTTAATTGGACAATTCAAGACATCCATTTTATTGTCCAAAATATTACATAAAAGTGTACAGTTTTTAGCCTAAATGCAAACAAAGTTGCTTGAAAATGGC
ATGGGTAAAATTCTTACGGAAACCTGGTGGCAATCTTGGAAAAGTTTATCAGCCTGGAAGTATGCTATCACTAGCCCCTACCAAAGGCTTGTTAAATGAACCAGGACAAAACAGCTGCTTTCTTAATA
GCGCTGTACAGGTTTTATGGCAATTGGATATATTCCGACGAAGCTTGCGGGTTTTGACTGGACATGTTTGTCAGGGAGATGCCTGTATATTTTGTGCATTGAAGACGATATTTGCACAGTTCCAACAC
AGTCGAGAAAAAGCACTTCCCTCAGATAACATAAGGCATGCTCTTGCAGAAAGTTTCAAAGATGAGCAGCGATTTCAACTTGGCCTTATGGATGATGCTGCGGAGTGCTTTGAAAATATGTTGGAGAG
GATTCATTTTCACATAGTGCCAAGCAGAGATGCAGACATGTGTACCTCTAAATCTTGTATCACTCACCAGAAGTTTGCTATGACTCTGTATGAACAGTGTGTGTGTCGTAGCTGTGGAGCATCGTCAG
ATCCTCTACCTTTTACAGAATTTGTGCGGTACATTTCTACAACAGCCTTATGCAATGAGGTTGAAAGAATGTTGGAAAGGCATGAACGCTTTAAACCTGAAATGTTTGCAGAATTGCTACAAGCAGCA
AATACAACAGATGACTATAGGAAATGTCCTAGTAACTGTGGCCAAAAAATAAAAATTCGCCGTGTTTTAATGAATTGCCCAGAGATTGTTACAATTGGTTTAGTCTGGGACTCCGAGCATTCTGACTT
GACCGAAGCTGTTGTTCGGAATCTAGCAACACATCTTTATCTTCCTGGGCTTTTTTATAGAGTTACTGATGAAAATGCCAAAAATAGTGAACTTAACCTTGTTGGTATGATCTGCTACACCAGCCAAC
ATTATTGTGCCTTTGCATTTCACACCAAAAGTTCCAAATGGGTATTTTTTGATGATGCAAATGTGAAAGAGATTGGAACTAGATGGAAAGATGTTGTCTCCAAATGCATTCGATGCCACTTTCAGCCA
CTACTTTTGTTTTATGCAAACCCAGATGGCACAGCAGTTTCTACTGAGGATGCACTCAGGCAGGTCATCAGCTGGTCACATTACAAATCTGTTGCAGAAAATATGGGATGTGAAAAGCCTGTAATTCA
TAAGTCAGATAATTTAAAAGAAAATGGATTTGGTGATCAGGCAAAGCAGAGAGAAAATCAGAAATTTCCAACTGATAATATTTCATCATCTAATCGGAGCCACAGTCACACAGGTGTAGGGAAAGGAC
CAGCTAAGTTAAGTCACATTGATCAAAGGGAAAAGATAAAAGACATTTCCAGAGAATGTGCTCTGAAAGCTATTGAACAGAAAAACTTACTTTCTTCACAAAGGAAAGATTTAGAGAAGGGACAAAGA
AAAGATTTAGGACGACATAGAGATTTGGTTGATGAAGACCTTTCACATTTCCAATCTGGATCACCTCCTGCCCCAAATGGTTTTAAACAACATGGGAATCCACATCTATATCATAGTCAAGGAAAAGG
ATCATATAAACATGACCGAGTTGTACCTCAGAGTCGAGCTTCTGCACAAATAATAAGTTCAAGTAAATCCCAGATTCTTGCTCCAGGAGAGAAAATAACTGGCAAAGTTAAGAGTGACAATGGCACTG
GATATGACACAGACAGCAGCCAAGATTCTAGGGATAGAGGAAACAGCTGTGATAGCAGCAGTAAAAGCCGGAACCGAGGTTGGAAACCTATGAGAGAAACATTAAATGTTGATAGTATTTTTAGTGAA
AGTGAAAAAAGACAGCATAGTCCAAGACATAAACCAAATATCAGTAATAAGCCTAAATCTAGCAAGGATCCGAGTTTTAGTAATTGGCCAAAAGAGAATCCAAAGCAAAAAGGTTTAATGACCATATA
TGAAGATGAAATGAAGCAGGAAATAGGAAGCAGAAGTTCCCTTGAATCTAATGGAAAAGGAGCAGAGAAAAATAAAGGCCTTGTAGAGGGTAAAGTGCATGGTGATAATTGGCAGATGCAAAGGACTG
AGTCTGGATATGAAAGCAGTGATCACATCAGTAATGGTTCTACTAATTTGGACTCACCTGTTATCGATGGAAATGGTACAGTAATGGATATCAGTGGTGTTAAAGAAACAGTATGCTTCAGTGACCAG
ATTACGACAAGCAACCTAAATAAAGAACGTGGGGACTGTACCTCCCTTCAGAGCCAACATCACTTAGAAGATCACATGTACATGAAGACAATGGAAAGTTATTTCCTTCATCCAGTCTACAAATACCC
AAGGACCATAATGCAAGAGAACATATCCACCAGTCAGATGAACAGAAACTTGAAAAACCGAATGAATGCAAATTTTCTGAGTGGCTTAATATAGAAAATTCTGAGAGAACAGGTTTGCCTTTTCACGT
TGATAACTCTGCTTCTGGGAAGAGAGTGAACAGTAATGAACCATCTTCATTATGGTCTTCACACCTAAGAACTGTTGGGTTAAAGCCAGAAACTGCTCCTCTCATCCAGCAACAAAATATCATGGATC
AATGTTACTTTGAGAACTCTCTATCCACAGAATGTATAATTCGGTCAGCCAGCAGATCTGATGGGTGTCAGATGCCAAAACTTTTTTGCCAGAATCTACCACCCCCTTTGCCACCAAAGAAATATGCT
ATAACCAGTGTGCCACAGTCAGAGAAAAGCGAATCTACACCTGATGTCAAACTTACAGAGGTGTTTAAAGCTACCTCTCATCTTCCGAAGCACAGTTTAAGTACAGCTTCAGAACCAAGTTTAGAAGT
GAGTACACATATGAATGATGAAAGACATAAAGAAACATTTCAAGTGAGAGAATGTTTTGGCAACACACCAAACTGTCCATCCAGCTCCTCAACTAACGATTTTCAGGCAAACTCAGGTGCCATTGATG
CATTTTGCCAACCAGAACTAGACTCTATTTCTACCTGTCCAAATGAGACAGTTTCATTAACTACCTATTTTTCAGTTGATAGCTGCATGACGGATACATATAGATTGAAATACCATCAGAGGCCCAAG
CTCTCTTTTCCAGAGAGCAGTGGCTTTTGTAATAATTCACTATCTTAGAGTGAAAAAGGACTAGACCTGTGTTACATAATAATCTTGGTTCAAGCTGCCCTTCTGAACAAAGATATAAACCTAGCATA
CATTGTAATAGATAACTGGTAAAACTGACCAACTTTTACTTCTCAGAGGCCATTTAAATATAATAGGAACCTACTGACCAAACCTAGTGATACATAAAATTAAAGCCTGTGGCATTTTTAAAGTTGTT
AATCACTATACATATGTATGTGTATATGTGTATACACATATATAATTTTATGATCAATATCTTAGATATTTTAGAAATTCCCTTTGAATAGTCTTGGCGTGCCGTGAAAAATAGAAAATCAGGGAGAT
ATAATAATTCATTTGTCATATGCTACAGTTGAATAAAAATTAAATTTGTCCCCCTATTTTGTGGCCAGTAGACTGGGAAGTATTAAACTAACCAGTACTCATGTATGGAGATTATAAACTATGCTAAT
TGAAAAGTACCAGGTGATACATAGCCTGGTACTTTTTTGTCAAAGAATTGCTTTATGAAGAAGCACTTTCTAATGGGTAACCAGAAAAGGGCTTCACCCATTTGTTTTTGACTTCTATGATAGTCACT
GCATATGATCCCTTTAAGTGTCTTTAAAAAAAATGACTTATGAATTTGATAGCATTTGGGGAAAAAAAGCCTTATATGATTAACAATTTGTAAGTTTTCAAGATCGGATGGAATTTAATTTTGCTCCT
AGAATTTTTGTCTTCAGAATATCTAGTTAAGATAAATTAGGCCTTTGACTATTATAGGTATTCATAAATGCTACTTTAGCCATGTAAGTTAAAAAGTTAAAATACTTAAACTTTAGTGTATTTATTTA
TCTCGTTACTTTTTTTCTAATTTTATATGAAATGTGAAAGGTCTTTATTTTGGTTTGGTTTACTTTGGGCTGCTAACCACCAGTGTTAGGAATTAATGTAGGGCACCCTCTTATTGGGAATGTCACTG
TAATTGCCTACATTTTCTTTGCTGTAATATTACCTGCTTATAGGTTGTCAACCCATTTTATCTGAATTTGAAAATCTATCTAGGTTTCCAGATTAAATTTCTACCTTTCATATAGAGAGTTTAATTTT
AATAAAATGTTTAATTAGAGCATCCTTCCCTTTTATTCTACTTTGAACAAATAGTAATTTTACCCCAACTACTTTTCATGAAGAGTGCTTTGAAAATTAAAGGAATTTTTATTATTATGGTAACCTTA
TGAGTAAAAATAAGTTACTTTAATTGCTTTATTTCGTTAGTTGTCATTTTATTTTGTACTATGCTGGTAAACTAATTGTGGTTTAGAATAGTTTTATGTTCACTCCTGATAACTGAGAAACAGAACTA
AAGTTTTCCTTACATTGCTAAATGGATAAACCTCATATTCAATAAACTAGTAAATGTAGCCACTTGACTGATTGCGTAAATCGTGTTAAAACATTCTAAAATGTTGTAACTAATTTAATGTGAATACT
GTTAAACAGAAAATAATTGCTTATAAAAGTCTAACTTCACCCAGTTACCAAGTCTTGGCCAAATTTTATCTTCTGCCTATAGTTTTTACTAGCCTTTTTAAACTATAATAGTGAGTGATCATTACTTT
ATATTCTCGTAAGTTAGAAATACTTGAATGCCAAATTAATTTTGTTTTAAGAAAGCTTATTTTTAACATAATTTTTTAGTGTGGAGGGTTTGTAAATAATGTAAAGTTTGTAAACCTGTATTTAAAAT
ACCAAAGTTTTTCTTCTTTTATAACATTGTAAGATACTAGAAAAATGGGCTTCAAGTTTTTTAATAGCTTTCACAGTTTGTGTAGTTTTTTTTTTCTATTTGGTTAAGATGTGAGTTGGAAATGTATT
ATTTGAAACATTTAAACTAATTTTTGTATTTAACAGCAGTCTCAGACATTTGTCTTTTCAACTCAGTTGAGTTGTAGATATCAAATAGAAATGTCCAGTTTTGCCTCTTTTAAGTACTGTCCAGTTGA
AACCTCCTGACTCATGTACTACTACACAAACTAGAAAATGCCCATTTATTTTTGTTGATTCAACACTCCAGATACAGATTGATACATATATACTAATCATTTTATTTCATGTAAAAGTTTTACATCTA
GGGTGCCTATTTATTTTTATAGATGCTTTCATCCAGTTATAAGCTTATTATAACTTTGTAAATATTTCAGCCAACAGTTGTAATGTTTAAAATACTTACCTTCAGAATGTTATATTTTCATGTGAAAT
CAATTTCTTCTAATTCAAAAAAATTTTAAGATAAACTGATTTTTAAGTTTA

hide sequence

RefSeq Acc Id:

NM_001371398 ⟹ NP_001358327

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	119,212,713 - 119,295,518 (+)	NCBI
T2T-CHM13v2.0	4	122,517,784 - 122,600,620 (+)	NCBI

Sequence:

show sequence

AGTTCCCGGTGAGCCTCGGTACTGTGGCAGCAGTCAGTGTGTCTGGCGGGTGTCGGCGTGAAGC
GGGGCTGGGCCAGCGGGAGGTAGCTCTGTGGGAGTGGAAGGCCTGTATTTCTCTACCTGGACCGCACGCTCCTCGCGCAAGGAGGGTAGAGCTCAAGATGCTTGGGATTTGCTTTACATTCTAAGTGG
ATTTGGAGAAGAGACAATAAAGAATAAGCAGTCAATTCTATAATATATTTAGAAGGAGAAAAGTGCCAAGGAGGAATGAAAAAGTAGAACAAGAGACAGCATCTTGCTGCCACCCAGGCTGGAGTGCA
GTGGTGCAGTCTTAGCTTACTGCAGCCTCAAACTTCTGGGCTCAAGTAATCCTCCCGCCTCAGCTTCCTGAGTAGCTGAGATTACAGATTTGCTTTGAGGTCACATTGATATGAAATATGGAGTCACC
TTTTATAACTTCACCTGGGAAAGAGAGAGAAAACTTTCTTGTTAAAAAAACATAAGGAAAACAAACAACCAAAGGAATCATGCCAAATGCCAACTCTACATCTTTTTGTATTATTAACATATTTTATG
CATCAAGACAAATGGCTTATGCATTAAAGGGGATGATTCGTTCATCAGTATTTTTAGCCATTAAAAAAAATCGTTTTCATATTAACCTTATACAGCTCCCATAAAATTTAACACATATAAACATCTTT
AACGCCTTGTTTAAAATAGCTTTCTTTTTTAGTGCTTAGAACTTCAATGTTTATGCACCCTATTGTTACTTGTCAGAGTCTTTAAGAGTTTATAACATCAGGAAAGATATGGACTTGGAAACTTACAT
TATTAAAATAGACTGCAGTGGATTTAATTGGACAATTCAAGACATCCATTTTATTGTCCAAAATATTACATAAAAGTGTACAGTTTTTAGCCTAAATGCAAACAAAGTTGCTTGAAAATGGCATGGGT
AAAATTCTTACGGAAACCTGGTGGCAATCTTGGAAAAGTTTATCAGCCTGGAAGTATGCTATCACTAGCCCCTACCAAAGGCTTGTTAAATGAACCAGGACAAAACAGCTGCTTTCTTAATAGCGCTG
TACAGGTTTTATGGCAATTGGATATATTCCGACGAAGCTTGCGGGTTTTGACTGGACATGTTTGTCAGGGAGATGCCTGTATATTTTGTGCATTGAAGACGATATTTGCACAGTTCCAACACAGTCGA
GAAAAAGCACTTCCCTCAGATAACATAAGGCATGCTCTTGCAGAAAGTTTCAAAGATGAGCAGCGATTTCAACTTGGCCTTATGGATGATGCTGCGGAGTGCTTTGAAAATATGTTGGAGAGGATTCA
TTTTCACATAGTGCCAAGCAGAGATGCAGACATGTGTACCTCTAAATCTTGTATCACTCACCAGAAGTTTGCTATGACTCTGTATGAACAGTGTGTGTGTCGTAGCTGTGGAGCATCGTCAGATCCTC
TACCTTTTACAGAATTTGTGCGGTACATTTCTACAACAGCCTTATGCAATGAGGTTGAAAGAATGTTGGAAAGGCATGAACGCTTTAAACCTGAAATGTTTGCAGAATTGCTACAAGCAGCAAATACA
ACAGATGACTATAGGAAATGTCCTAGTAACTGTGGCCAAAAAATAAAAATTCGCCGTGTTTTAATGAATTGCCCAGAGATTGTTACAATTGGTTTAGTCTGGGACTCCGAGCATTCTGACTTGACCGA
AGCTGTTGTTCGGAATCTAGCAACACATCTTTATCTTCCTGGGCTTTTTTATAGAGTTACTGATGAAAATGCCAAAAATAGTGAACTTAACCTTGTTGGTATGATCTGCTACACCAGCCAACATTATT
GTGCCTTTGCATTTCACACCAAAAGTTCCAAATGGGTATTTTTTGATGATGCAAATGTGAAAGAGATTGGAACTAGATGGAAAGATGTTGTCTCCAAATGCATTCGATGCCACTTTCAGCCACTACTT
TTGTTTTATGCAAACCCAGATGGCACAGCAGTTTCTACTGAGGATGCACTCAGGCAGGTCATCAGCTGGTCACATTACAAATCTGTTGCAGAAAATATGGGATGTGAAAAGCCTGTAATTCATAAGTC
AGATAATTTAAAAGAAAATGGATTTGGTGATCAGGCAAAGCAGAGAGAAAATCAGAAATTTCCAACTGATAATATTTCATCATCTAATCGGAGCCACAGTCACACAGGTGTAGGGAAAGGACCAGCTA
AGTTAAGTCACATTGATCAAAGGGAAAAGATAAAAGACATTTCCAGAGAATGTGCTCTGAAAGCTATTGAACAGAAAAACTTACTTTCTTCACAAAGGAAAGATTTAGAGAAGGGACAAAGAAAAGAT
TTAGGACGACATAGAGATTTGGTTGATGAAGACCTTTCACATTTCCAATCTGGATCACCTCCTGCCCCAAATGGTTTTAAACAACATGGGAATCCACATCTATATCATAGTCAAGGAAAAGGATCATA
TAAACATGACCGAGTTGTACCTCAGAGTCGAGCTTCTGCACAAATAATAAGTTCAAGTAAATCCCAGATTCTTGCTCCAGGAGAGAAAATAACTGGCAAAGTTAAGAGTGACAATGGCACTGGATATG
ACACAGACAGCAGCCAAGATTCTAGGGATAGAGGAAACAGCTGTGATAGCAGCAGTAAAAGCCGGAACCGAGGTTGGAAACCTATGAGAGAAACATTAAATGTTGATAGTATTTTTAGTGAAAGTGAA
AAAAGACAGCATAGTCCAAGACATAAACCAAATATCAGTAATAAGCCTAAATCTAGCAAGGATCCGAGTTTTAGTAATTGGCCAAAAGAGAATCCAAAGCAAAAAGGTTTAATGACCATATATGAAGA
TGAAATGAAGCAGGAAATAGGAAGCAGAAGTTCCCTTGAATCTAATGGAAAAGGAGCAGAGAAAAATAAAGGCCTTGTAGAGGGTAAAGTGCATGGTGATAATTGGCAGATGCAAAGGACTGAGTCTG
GATATGAAAGCAGTGATCACATCAGTAATGGTTCTACTAATTTGGACTCACCTGTTATCGATGGAAATGGTACAGTAATGGATATCAGTGGTGTTAAAGAAACAGTATGCTTCAGTGACCAGATTACG
ACAAGCAACCTAAATAAAGAACGTGGGGACTGTACCTCCCTTCAGAGCCAACATCACTTAGAAGATCACATGTACATGAAGACAATGGAAAGTTATTTCCTTCATCCAGTCTACAAATACCCAAGGAC
CATAATGCAAGAGAACATATCCACCAGTCAGATGAACAGAAACTTGAAAAACCGAATGAATGCAAATTTTCTGAGTGGCTTAATATAGAAAATTCTGAGAGAACAGGTTTGCCTTTTCACGTTGATAA
CTCTGCTTCTGGGAAGAGAGTGAACAGTAATGAACCATCTTCATTATGGTCTTCACACCTAAGAACTGTTGGGTTAAAGCCAGAAACTGCTCCTCTCATCCAGCAACAAAATATCATGGATCAATGTT
ACTTTGAGAACTCTCTATCCACAGAATGTATAATTCGGTCAGCCAGCAGATCTGATGGGTGTCAGATGCCAAAACTTTTTTGCCAGAATCTACCACCCCCTTTGCCACCAAAGAAATATGCTATAACC
AGTGTGCCACAGTCAGAGAAAAGCGAATCTACACCTGATGTCAAACTTACAGAGGTGTTTAAAGCTACCTCTCATCTTCCGAAGCACAGTTTAAGTACAGCTTCAGAACCAAGTTTAGAAGTGAGTAC
ACATATGAATGATGAAAGACATAAAGAAACATTTCAAGTGAGAGAATGTTTTGGCAACACACCAAACTGTCCATCCAGCTCCTCAACTAACGATTTTCAGGCAAACTCAGGTGCCATTGATGCATTTT
GCCAACCAGAACTAGACTCTATTTCTACCTGTCCAAATGAGACAGTTTCATTAACTACCTATTTTTCAGTTGATAGCTGCATGACGGATACATATAGATTGAAATACCATCAGAGGCCCAAGCTCTCT
TTTCCAGAGAGCAGTGGCTTTTGTAATAATTCACTATCTTAGAGTGAAAAAGGACTAGACCTGTGTTACATAATAATCTTGGTTCAAGCTGCCCTTCTGAACAAAGATATAAACCTAGCATACATTGT
AATAGATAACTGGTAAAACTGACCAACTTTTACTTCTCAGAGGCCATTTAAATATAATAGGAACCTACTGACCAAACCTAGTGATACATAAAATTAAAGCCTGTGGCATTTTTAAAGTTGTTAATCAC
TATACATATGTATGTGTATATGTGTATACACATATATAATTTTATGATCAATATCTTAGATATTTTAGAAATTCCCTTTGAATAGTCTTGGCGTGCCGTGAAAAATAGAAAATCAGGGAGATATAATA
ATTCATTTGTCATATGCTACAGTTGAATAAAAATTAAATTTGTCCCCCTATTTTGTGGCCAGTAGACTGGGAAGTATTAAACTAACCAGTACTCATGTATGGAGATTATAAACTATGCTAATTGAAAA
GTACCAGGTGATACATAGCCTGGTACTTTTTTGTCAAAGAATTGCTTTATGAAGAAGCACTTTCTAATGGGTAACCAGAAAAGGGCTTCACCCATTTGTTTTTGACTTCTATGATAGTCACTGCATAT
GATCCCTTTAAGTGTCTTTAAAAAAAATGACTTATGAATTTGATAGCATTTGGGGAAAAAAAGCCTTATATGATTAACAATTTGTAAGTTTTCAAGATCGGATGGAATTTAATTTTGCTCCTAGAATT
TTTGTCTTCAGAATATCTAGTTAAGATAAATTAGGCCTTTGACTATTATAGGTATTCATAAATGCTACTTTAGCCATGTAAGTTAAAAAGTTAAAATACTTAAACTTTAGTGTATTTATTTATCTCGT
TACTTTTTTTCTAATTTTATATGAAATGTGAAAGGTCTTTATTTTGGTTTGGTTTACTTTGGGCTGCTAACCACCAGTGTTAGGAATTAATGTAGGGCACCCTCTTATTGGGAATGTCACTGTAATTG
CCTACATTTTCTTTGCTGTAATATTACCTGCTTATAGGTTGTCAACCCATTTTATCTGAATTTGAAAATCTATCTAGGTTTCCAGATTAAATTTCTACCTTTCATATAGAGAGTTTAATTTTAATAAA
ATGTTTAATTAGAGCATCCTTCCCTTTTATTCTACTTTGAACAAATAGTAATTTTACCCCAACTACTTTTCATGAAGAGTGCTTTGAAAATTAAAGGAATTTTTATTATTATGGTAACCTTATGAGTA
AAAATAAGTTACTTTAATTGCTTTATTTCGTTAGTTGTCATTTTATTTTGTACTATGCTGGTAAACTAATTGTGGTTTAGAATAGTTTTATGTTCACTCCTGATAACTGAGAAACAGAACTAAAGTTT
TCCTTACATTGCTAAATGGATAAACCTCATATTCAATAAACTAGTAAATGTAGCCACTTGACTGATTGCGTAAATCGTGTTAAAACATTCTAAAATGTTGTAACTAATTTAATGTGAATACTGTTAAA
CAGAAAATAATTGCTTATAAAAGTCTAACTTCACCCAGTTACCAAGTCTTGGCCAAATTTTATCTTCTGCCTATAGTTTTTACTAGCCTTTTTAAACTATAATAGTGAGTGATCATTACTTTATATTC
TCGTAAGTTAGAAATACTTGAATGCCAAATTAATTTTGTTTTAAGAAAGCTTATTTTTAACATAATTTTTTAGTGTGGAGGGTTTGTAAATAATGTAAAGTTTGTAAACCTGTATTTAAAATACCAAA
GTTTTTCTTCTTTTATAACATTGTAAGATACTAGAAAAATGGGCTTCAAGTTTTTTAATAGCTTTCACAGTTTGTGTAGTTTTTTTTTTCTATTTGGTTAAGATGTGAGTTGGAAATGTATTATTTGA
AACATTTAAACTAATTTTTGTATTTAACAGCAGTCTCAGACATTTGTCTTTTCAACTCAGTTGAGTTGTAGATATCAAATAGAAATGTCCAGTTTTGCCTCTTTTAAGTACTGTCCAGTTGAAACCTC
CTGACTCATGTACTACTACACAAACTAGAAAATGCCCATTTATTTTTGTTGATTCAACACTCCAGATACAGATTGATACATATATACTAATCATTTTATTTCATGTAAAAGTTTTACATCTAGGGTGC
CTATTTATTTTTATAGATGCTTTCATCCAGTTATAAGCTTATTATAACTTTGTAAATATTTCAGCCAACAGTTGTAATGTTTAAAATACTTACCTTCAGAATGTTATATTTTCATGTGAAATCAATTT
CTTCTAATTCAAAAAAATTTTAAGATAAACTGATTTTTAAGTTTA

hide sequence

RefSeq Acc Id:

NM_001371399 ⟹ NP_001358328

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	119,212,713 - 119,295,518 (+)	NCBI
T2T-CHM13v2.0	4	122,517,784 - 122,600,620 (+)	NCBI

Sequence:

show sequence

AGTTCCCGGTGAGCCTCGGTACTGTGGCAGCAGTCAGTGTGTCTGGCGGGTGTCGGCGTGAAGC
GGGGCTGGGCCAGCGGGAGGTAGCTCTGTGGGAGTGGAAGGCCTGTATTTCTCTACCTGGACCGCACGCTCCTCGCGCAAGGAGGGTAGAGCTCAAGATGCTTGGGATTTGCTTTACATTCTAAGTGG
ATTTGGAGAAGAGACAATAAAGAATAAGCAGTCAATTCTATAATATATTTAGAAGGAGAAAAGTGCCAAGGAGGAATGAAAAAGTAGAACAAGATTTGCTTTGAGGTCACATTGATATGAAATATGGA
GTCACCTTTTATAACTTCACCTGGGAAAGAGAGAGAAAACTTTCTTGTTAAAAAAACATAAGGAAAACAAACAACCAAAGGAATCATGCCAAATGCCAACTCTACATCTTTTTGTATTATTAACATAT
TTTATGCATCAAGACAAATGGCTTATGCATTAAAGGGGATGATTCGTTCATCAGTATTTTTAGCCATTAAAAAAAATCGTTTTCATATTAACCTTATACAGCTCCCATAAAATTTAACACATATAAAC
ATCTTTAACGCCTTGTTTAAAATAGCTTTCTTTTTTAGTGCTTAGAACTTCAATGTTTATGCACCCTATTGTTACTTGTCAGAGTCTTTAAGAGTTTATAACATCAGGAAAGATATGGACTTGGAAAC
TTACATTATTAAAATAGACTGCAGTGGATTTAATTGGACAATTCAAGACATCCATTTTATTGTCCAAAATATTACATAAAAGTGTACAGTTTTTAGCCTAAATGCAAACAAAGTTGCTTGAAAATGGC
ATGGGTAAAATTCTTACGGAAACCTGGTGGCAATCTTGGAAAAGTTTATCAGCCTGGAAGTATGCTATCACTAGCCCCTACCAAAGGCTTGTTAAATGAACCAGGACAAAACAGCTGCTTTCTTAATA
GCGCTGTACAGGTTTTATGGCAATTGGATATATTCCGACGAAGCTTGCGGGTTTTGACTGGACATGTTTGTCAGGGAGATGCCTGTATATTTTGTGCATTGAAGACGATATTTGCACAGTTCCAACAC
AGTCGAGAAAAAGCACTTCCCTCAGATAACATAAGGCATGCTCTTGCAGAAAGTTTCAAAGATGAGCAGCGATTTCAACTTGGCCTTATGGATGATGCTGCGGAGTGCTTTGAAAATATGTTGGAGAG
GATTCATTTTCACATAGTGCCAAGCAGAGATGCAGACATGTGTACCTCTAAATCTTGTATCACTCACCAGAAGTTTGCTATGACTCTGTATGAACAGTGTGTGTGTCGTAGCTGTGGAGCATCGTCAG
ATCCTCTACCTTTTACAGAATTTGTGCGGTACATTTCTACAACAGCCTTATGCAATGAGGTTGAAAGAATGTTGGAAAGGCATGAACGCTTTAAACCTGAAATGTTTGCAGAATTGCTACAAGCAGCA
AATACAACAGATGACTATAGGAAATGTCCTAGTAACTGTGGCCAAAAAATAAAAATTCGCCGTGTTTTAATGAATTGCCCAGAGATTGTTACAATTGGTTTAGTCTGGGACTCCGAGCATTCTGACTT
GACCGAAGCTGTTGTTCGGAATCTAGCAACACATCTTTATCTTCCTGGGCTTTTTTATAGAGTTACTGATGAAAATGCCAAAAATAGTGAACTTAACCTTGTTGGTATGATCTGCTACACCAGCCAAC
ATTATTGTGCCTTTGCATTTCACACCAAAAGTTCCAAATGGGTATTTTTTGATGATGCAAATGTGAAAGAGATTGGAACTAGATGGAAAGATGTTGTCTCCAAATGCATTCGATGCCACTTTCAGCCA
CTACTTTTGTTTTATGCAAACCCAGATGGCACAGCAGTTTCTACTGAGGATGCACTCAGGCAGGTCATCAGCTGGTCACATTACAAATCTGTTGCAGAAAATATGGGATGTGAAAAGCCTGTAATTCA
TAAGTCAGATAATTTAAAAGAAAATGGATTTGGTGATCAGGCAAAGCAGAGAGAAAATCAGAAATTTCCAACTGATAATATTTCATCATCTAATCGGAGCCACAGTCACACAGGTGTAGGGAAAGGAC
CAGCTAAGTTAAGTCACATTGATCAAAGGGAAAAGATAAAAGACATTTCCAGAGAATGTGCTCTGAAAGCTATTGAACAGAAAAACTTACTTTCTTCACAAAGGAAAGATTTAGAGAAGGGACAAAGA
AAAGATTTAGGACGACATAGAGATTTGGTTGATGAAGACCTTTCACATTTCCAATCTGGATCACCTCCTGCCCCAAATGGTTTTAAACAACATGGGAATCCACATCTATATCATAGTCAAGGAAAAGG
ATCATATAAACATGACCGAGTTGTACCTCAGAGTCGAGCTTCTGCACAAATAATAAGTTCAAGTAAATCCCAGATTCTTGCTCCAGGAGAGAAAATAACTGGCAAAGTTAAGAGTGACAATGGCACTG
GATATGACACAGACAGCAGCCAAGATTCTAGGGATAGAGGAAACAGCTGTGATAGCAGCAGTAAAAGCCGGAACCGAGGTTGGAAACCTATGAGAGAAACATTAAATGTTGATAGTATTTTTAGTGAA
AGTGAAAAAAGACAGCATAGTCCAAGACATAAACCAAATATCAGTAATAAGCCTAAATCTAGCAAGGATCCGAGTTTTAGTAATTGGCCAAAAGAGAATCCAAAGCAAAAAGGTTTAATGACCATATA
TGAAGATGAAATGAAGCAGGAAATAGGAAGCAGAAGTTCCCTTGAATCTAATGGAAAAGGAGCAGAGAAAAATAAAGGCCTTGTAGAGGGTAAAGTGCATGGTGATAATTGGCAGATGCAAAGGACTG
AGTCTGGATATGAAAGCAGTGATCACATCAGTAATGGTTCTACTAATTTGGACTCACCTGTTATCGATGGAAATGGTACAGTAATGGATATCAGTGGTGTTAAAGAAACAGTATGCTTCAGTGACCAG
ATTACGACAAGCAACCTAAATAAAGAACGTGGGGACTGTACCTCCCTTCAGAGCCAACATCACTTAGAAGGCTTTAGAAAAGAACTCAGGAATTTGGAAGCAGGCTATAAATCTCATGAATTCCACCC
AGAATCACATTTACAAATAAAAAATCATTTGATAAAAAGATCACATGTACATGAAGACAATGGAAAGTTATTTCCTTCATCCAGTCTACAAATACCCAAGGACCATAATGCAAGAGAACATATCCACC
AGTCAGATGAACAGAAACTTGAAAAACCGAATGAATGCAAATTTTCTGAGTGGCTTAATATAGAAAATTCTGAGAGAACAGGTTTGCCTTTTCACGTTGATAACTCTGCTTCTGGGAAGAGAGTGAAC
AGTAATGAACCATCTTCATTATGGTCTTCACACCTAAGAACTGTTGGGTTAAAGCCAGAAACTGCTCCTCTCATCCAGCAACAAAATATCATGGATCAATGTTACTTTGAGAACTCTCTATCCACAGA
ATGTATAATTCGGTCAGCCAGCAGATCTGATGGGTGTCAGATGCCAAAACTTTTTTGCCAGAATCTACCACCCCCTTTGCCACCAAAGAAATATGCTATAACCAGTGTGCCACAGTCAGAGAAAAGCG
AATCTACACCTGATGTCAAACTTACAGAGGTGTTTAAAGCTACCTCTCATCTTCCGAAGCACAGTTTAAGTACAGCTTCAGAACCAAGTTTAGAAGTGAGTACACATATGAATGATGAAAGACATAAA
GAAACATTTCAAGTGAGAGAATGTTTTGGCAACACACCAAACTGTCCATCCAGCTCCTCAACTAACGATTTTCAGGCAAACTCAGGTGCCATTGATGCATTTTGCCAACCAGAACTAGACTCTATTTC
TACCTGTCCAAATGAGACAGTTTCATTAACTACCTATTTTTCAGTTGATAGCTGCATGACGGATACATATAGATTGAAATACCATCAGAGGCCCAAGCTCTCTTTTCCAGAGAGCAGTGGCTTTTGTA
ATAATTCACTATCTTAGAGTGAAAAAGGACTAGACCTGTGTTACATAATAATCTTGGTTCAAGCTGCCCTTCTGAACAAAGATATAAACCTAGCATACATTGTAATAGATAACTGGTAAAACTGACCA
ACTTTTACTTCTCAGAGGCCATTTAAATATAATAGGAACCTACTGACCAAACCTAGTGATACATAAAATTAAAGCCTGTGGCATTTTTAAAGTTGTTAATCACTATACATATGTATGTGTATATGTGT
ATACACATATATAATTTTATGATCAATATCTTAGATATTTTAGAAATTCCCTTTGAATAGTCTTGGCGTGCCGTGAAAAATAGAAAATCAGGGAGATATAATAATTCATTTGTCATATGCTACAGTTG
AATAAAAATTAAATTTGTCCCCCTATTTTGTGGCCAGTAGACTGGGAAGTATTAAACTAACCAGTACTCATGTATGGAGATTATAAACTATGCTAATTGAAAAGTACCAGGTGATACATAGCCTGGTA
CTTTTTTGTCAAAGAATTGCTTTATGAAGAAGCACTTTCTAATGGGTAACCAGAAAAGGGCTTCACCCATTTGTTTTTGACTTCTATGATAGTCACTGCATATGATCCCTTTAAGTGTCTTTAAAAAA
AATGACTTATGAATTTGATAGCATTTGGGGAAAAAAAGCCTTATATGATTAACAATTTGTAAGTTTTCAAGATCGGATGGAATTTAATTTTGCTCCTAGAATTTTTGTCTTCAGAATATCTAGTTAAG
ATAAATTAGGCCTTTGACTATTATAGGTATTCATAAATGCTACTTTAGCCATGTAAGTTAAAAAGTTAAAATACTTAAACTTTAGTGTATTTATTTATCTCGTTACTTTTTTTCTAATTTTATATGAA
ATGTGAAAGGTCTTTATTTTGGTTTGGTTTACTTTGGGCTGCTAACCACCAGTGTTAGGAATTAATGTAGGGCACCCTCTTATTGGGAATGTCACTGTAATTGCCTACATTTTCTTTGCTGTAATATT
ACCTGCTTATAGGTTGTCAACCCATTTTATCTGAATTTGAAAATCTATCTAGGTTTCCAGATTAAATTTCTACCTTTCATATAGAGAGTTTAATTTTAATAAAATGTTTAATTAGAGCATCCTTCCCT
TTTATTCTACTTTGAACAAATAGTAATTTTACCCCAACTACTTTTCATGAAGAGTGCTTTGAAAATTAAAGGAATTTTTATTATTATGGTAACCTTATGAGTAAAAATAAGTTACTTTAATTGCTTTA
TTTCGTTAGTTGTCATTTTATTTTGTACTATGCTGGTAAACTAATTGTGGTTTAGAATAGTTTTATGTTCACTCCTGATAACTGAGAAACAGAACTAAAGTTTTCCTTACATTGCTAAATGGATAAAC
CTCATATTCAATAAACTAGTAAATGTAGCCACTTGACTGATTGCGTAAATCGTGTTAAAACATTCTAAAATGTTGTAACTAATTTAATGTGAATACTGTTAAACAGAAAATAATTGCTTATAAAAGTC
TAACTTCACCCAGTTACCAAGTCTTGGCCAAATTTTATCTTCTGCCTATAGTTTTTACTAGCCTTTTTAAACTATAATAGTGAGTGATCATTACTTTATATTCTCGTAAGTTAGAAATACTTGAATGC
CAAATTAATTTTGTTTTAAGAAAGCTTATTTTTAACATAATTTTTTAGTGTGGAGGGTTTGTAAATAATGTAAAGTTTGTAAACCTGTATTTAAAATACCAAAGTTTTTCTTCTTTTATAACATTGTA
AGATACTAGAAAAATGGGCTTCAAGTTTTTTAATAGCTTTCACAGTTTGTGTAGTTTTTTTTTTCTATTTGGTTAAGATGTGAGTTGGAAATGTATTATTTGAAACATTTAAACTAATTTTTGTATTT
AACAGCAGTCTCAGACATTTGTCTTTTCAACTCAGTTGAGTTGTAGATATCAAATAGAAATGTCCAGTTTTGCCTCTTTTAAGTACTGTCCAGTTGAAACCTCCTGACTCATGTACTACTACACAAAC
TAGAAAATGCCCATTTATTTTTGTTGATTCAACACTCCAGATACAGATTGATACATATATACTAATCATTTTATTTCATGTAAAAGTTTTACATCTAGGGTGCCTATTTATTTTTATAGATGCTTTCA
TCCAGTTATAAGCTTATTATAACTTTGTAAATATTTCAGCCAACAGTTGTAATGTTTAAAATACTTACCTTCAGAATGTTATATTTTCATGTGAAATCAATTTCTTCTAATTCAAAAAAATTTTAAGA
TAAACTGATTTTTAAGTTTA

hide sequence

RefSeq Acc Id:

NM_001389658 ⟹ NP_001376587

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	119,212,713 - 119,295,518 (+)	NCBI
T2T-CHM13v2.0	4	122,517,784 - 122,600,620 (+)	NCBI

Sequence:

show sequence

AGTTCCCGGTGAGCCTCGGTACTGTGGCAGCAGTCAGTGTGTCTGGCGGGTGTCGGCGTGAAGC
GGGGCTGGGCCAGCGGGAGGTAGCTCTGTGGGAGTGGAAGGCCTGTATTTCTCTACCTGGACCGCACGCTCCTCGCGCAAGGAGGGTAGAGCTCAAGATGCTTGGGATTTGCTTTACATTCTAAGTGG
ATTTGGAGAAGAGACAATAAAGAATAAGCAGTCAATTCTATAATATATTTAGAAGGAGAAAAGTGCCAAGGAGGAATGAAAAAGTAGAACAAGAGACAGCATCTTGCTGCCACCCAGGCTGGAGTGCA
GTGGTGCAGTCTTAGCTTACTGCAGCCTCAAACTTCTGGGCTCAAGTAATCCTCCCGCCTCAGCTTCCTGAGTAGCTGAGATTACAGATTTGCTTTGAGGTCACATTGATATGAAATATGGAGTCACC
TTTTATAACTTCACCTGGGAAAGAGAGAGAAAACTTTCTTGTTAAAAAAACATAAGGAAAACAAACAACCAAAGGAATCATGCCAAATGCCAACTCTACATCTTTTTGTATTATTAACATATTTTATG
CATCAAGACAAATGGCTTATGCATTAAAGGGGATGATTCGTTCATCAGTATTTTTAGCCATTAAAAAAAATCGTTTTCATATTAACCTTATACAGCTCCCATAAAATTTAACACATATAAACATCTTT
AACGCCTTGTTTAAAATAGCTTTCTTTTTTAGTGCTTAGAACTTCAATGTTTATGCACCCTATTGTTACTTGTCAGAGTCTTTAAGAGTTTATAACATCAGGAAAGATATGGACTTGGAAACTTACAT
TATTAAAATAGACTGCAGTGGATTTAATTGGACAATTCAAGACATCCATTTTATTGTCCAAAATATTACATAAAAGTGTACAGTTTTTAGCCTAAATGCAAACAAAGTTGCTTGAAAATGGCATGGGT
AAAATTCTTACGGAAACCTGGTGGCAATCTTGGAAAAGTTTATCAGCCTGGAAGTATGCTATCACTAGCCCCTACCAAAGGCTTGTTAAATGAACCAGGACAAAACAGCTGCTTTCTTAATAGCGCTG
TACAGGTTTTATGGCAATTGGATATATTCCGACGAAGCTTGCGGGTTTTGACTGGACATGTTTGTCAGGGAGATGCCTGTATATTTTGTGCATTGAAGACGATATTTGCACAGTTCCAACACAGTCGA
GAAAAAGCACTTCCCTCAGATAACATAAGGCATGCTCTTGCAGAAAGTTTCAAAGATGAGCAGCGATTTCAACTTGGCCTTATGGATGATGCTGCGGAGTGCTTTGAAAATATGTTGGAGAGGATTCA
TTTTCACATAGTGCCAAGCAGAGATGCAGACATGTGTACCTCTAAATCTTGTATCACTCACCAGAAGTTTGCTATGACTCTGTATGAACAGTGTGTGTGTCGTAGCTGTGGAGCATCGTCAGATCCTC
TACCTTTTACAGAATTTGTGCGGTACATTTCTACAACAGCCTTATGCAATGAGGTTGAAAGAATGTTGGAAAGGCATGAACGCTTTAAACCTGAAATGTTTGCAGAATTGCTACAAGCAGCAAATACA
ACAGATGACTATAGGAAATGTCCTAGTAACTGTGGCCAAAAAATAAAAATTCGCCGTGTTTTAATGAATTGCCCAGAGATTGTTACAATTGGTTTAGTCTGGGACTCCGAGCATTCTGACTTGACCGA
AGCTGTTGTTCGGAATCTAGCAACACATCTTTATCTTCCTGGGCTTTTTTATAGAGTTACTGATGAAAATGCCAAAAATAGTGAACTTAACCTTGTTGGTATGATCTGCTACACCAGCCAACATTATT
GTGCCTTTGCATTTCACACCAAAAGTTCCAAATGGGTATTTTTTGATGATGCAAATGTGAAAGAGATTGGAACTAGATGGAAAGATGTTGTCTCCAAATGCATTCGATGCCACTTTCAGCCACTACTT
TTGTTTTATGCAAACCCAGATGGCACAGCAGTTTCTACTGAGGATGCACTCAGGCAGGTCATCAGCTGGTCACATTACAAATCTGTTGCAGAAAATATGGGATGTGAAAAGCCTGTAATTCATAAGTC
AGATAATTTAAAAGAAAATGGATTTGGTGATCAGGCAAAGCAGAGAGAAAATCAGAAATTTCCAACTGATAATATTTCATCATCTAATCGGAGCCACAGTCACACAGGTGTAGGGAAAGGACCAGCTA
AGTTAAGTCACATTGATCAAAGGGAAAAGATAAAAGACATTTCCAGAGAATGTGCTCTGAAAGCTATTGAACAGAAAAACTTACTTTCTTCACAAAGGAAAGATTTAGAGAAGGGACAAAGAAAAGAT
TTAGGACGACATAGAGATTTGGTTGATGAAGACCTTTCACATTTCCAATCTGGATCACCTCCTGCCCCAAATGGTTTTAAACAACATGGGAATCCACATCTATATCATAGTCAAGGAAAAGGATCATA
TAAACATGACCGAGTTGTACCTCAGAGTCGAGCTTCTGCACAAATAATAAGTTCAAGTAAATCCCAGATTCTTGCTCCAGGAGAGAAAATAACTGGCAAAGTTAAGAGTGACAATGGCACTGGATATG
ACACAGACAGCAGCCAAGATTCTAGGGATAGAGGAAACAGCTGTGATAGCAGCAGTAAAAGCCGGAACCGAGGTTGGAAACCTATGAGAGAAACATTAAATGTTGATAGTATTTTTAGTGAAAGTGAA
AAAAGACAGCATAGTCCAAGACATAAACCAAATATCAGTAATAAGCCTAAATCTAGCAAGGATCCGAGTTTTAGTAATTGGCCAAAAGAGAATCCAAAGCAAAAAGGTTTAATGACCATATATGAAGA
TGAAATGAAGCAGGAAATAGGAAGCAGAAGTTCCCTTGAATCTAATGGAAAAGGAGCAGAGAAAAATAAAGGCCTTGTAGAGGGTAAAGTGCATGGTGATAATTGGCAGATGCAAAGGACTGAGTCTG
GATATGAAAGCAGTGATCACATCAGTAATGGTTCTACTAATTTGGACTCACCTGTTATCGATGGAAATGGTACAGTAATGGATATCAGTGGTGTTAAAGAAACAGTATGCTTCAGTGACCAGATTACG
ACAAGCAACCTAAATAAAGAACGTGGGGACTGTACCTCCCTTCAGAGCCAACATCACTTAGAAGGCTTTAGAAAAGAACTCAGGAATTTGGAAGCAGGCTATAAATCTCATGAATTCCACCCAGAATC
ACATTTACAAATAAAAAATCATTTGATAAAAAGATCACATGTACATGAAGACAATGGAAAGTTATTTCCTTCATCCAGTCTACAAATACCCAAGGACCATAATGCAAGAGAACATATCCACCAGTCAG
ATGAACAGAAACTTGAAAAACCGAATGAATGCAAATTTTCTGAGTGGCTTAATATAGAAAATTCTGAGAGAACAGGTTTGCCTTTTCACGTTGATAACTCTGCTTCTGGGAAGAGAGTGAACAGTAAT
GAACCATCTTCATTATGGTCTTCACACCTAAGAACTGTTGGGTTAAAGCCAGAAACTGCTCCTCTCATCCAGCAACAAAATATCATGGATCAATGTTACTTTGAGAACTCTCTATCCACAGAATGTAT
AATTCGGTCAGCCAGCAGATCTGATGGGTGTCAGATGCCAAAACTTTTTTGCCAGAATCTACCACCCCCTTTGCCACCAAAGAAATATGCTATAACCAGTGTGCCACAGTCAGAGAAAAGCGAATCTA
CACCTGATGTCAAACTTACAGAGGTGTTTAAAGCTACCTCTCATCTTCCGAAGCACAGTTTAAGTACAGCTTCAGAACCAAGTTTAGAAGTGAGTACACATATGAATGATGAAAGACATAAAGAAACA
TTTCAAGTGAGAGAATGTTTTGGCAACACACCAAACTGTCCATCCAGCTCCTCAACTAACGATTTTCAGGCAAACTCAGGTGCCATTGATGCATTTTGCCAACCAGAACTAGACTCTATTTCTACCTG
TCCAAATGAGACAGTTTCATTAACTACCTATTTTTCAGTTGATAGCTGCATGACGGATACATATAGATTGAAATACCATCAGAGGCCCAAGCTCTCTTTTCCAGAGAGCAGTGGCTTTTGTAATAATT
CACTATCTTAGAGTGAAAAAGGACTAGACCTGTGTTACATAATAATCTTGGTTCAAGCTGCCCTTCTGAACAAAGATATAAACCTAGCATACATTGTAATAGATAACTGGTAAAACTGACCAACTTTT
ACTTCTCAGAGGCCATTTAAATATAATAGGAACCTACTGACCAAACCTAGTGATACATAAAATTAAAGCCTGTGGCATTTTTAAAGTTGTTAATCACTATACATATGTATGTGTATATGTGTATACAC
ATATATAATTTTATGATCAATATCTTAGATATTTTAGAAATTCCCTTTGAATAGTCTTGGCGTGCCGTGAAAAATAGAAAATCAGGGAGATATAATAATTCATTTGTCATATGCTACAGTTGAATAAA
AATTAAATTTGTCCCCCTATTTTGTGGCCAGTAGACTGGGAAGTATTAAACTAACCAGTACTCATGTATGGAGATTATAAACTATGCTAATTGAAAAGTACCAGGTGATACATAGCCTGGTACTTTTT
TGTCAAAGAATTGCTTTATGAAGAAGCACTTTCTAATGGGTAACCAGAAAAGGGCTTCACCCATTTGTTTTTGACTTCTATGATAGTCACTGCATATGATCCCTTTAAGTGTCTTTAAAAAAAATGAC
TTATGAATTTGATAGCATTTGGGGAAAAAAAGCCTTATATGATTAACAATTTGTAAGTTTTCAAGATCGGATGGAATTTAATTTTGCTCCTAGAATTTTTGTCTTCAGAATATCTAGTTAAGATAAAT
TAGGCCTTTGACTATTATAGGTATTCATAAATGCTACTTTAGCCATGTAAGTTAAAAAGTTAAAATACTTAAACTTTAGTGTATTTATTTATCTCGTTACTTTTTTTCTAATTTTATATGAAATGTGA
AAGGTCTTTATTTTGGTTTGGTTTACTTTGGGCTGCTAACCACCAGTGTTAGGAATTAATGTAGGGCACCCTCTTATTGGGAATGTCACTGTAATTGCCTACATTTTCTTTGCTGTAATATTACCTGC
TTATAGGTTGTCAACCCATTTTATCTGAATTTGAAAATCTATCTAGGTTTCCAGATTAAATTTCTACCTTTCATATAGAGAGTTTAATTTTAATAAAATGTTTAATTAGAGCATCCTTCCCTTTTATT
CTACTTTGAACAAATAGTAATTTTACCCCAACTACTTTTCATGAAGAGTGCTTTGAAAATTAAAGGAATTTTTATTATTATGGTAACCTTATGAGTAAAAATAAGTTACTTTAATTGCTTTATTTCGT
TAGTTGTCATTTTATTTTGTACTATGCTGGTAAACTAATTGTGGTTTAGAATAGTTTTATGTTCACTCCTGATAACTGAGAAACAGAACTAAAGTTTTCCTTACATTGCTAAATGGATAAACCTCATA
TTCAATAAACTAGTAAATGTAGCCACTTGACTGATTGCGTAAATCGTGTTAAAACATTCTAAAATGTTGTAACTAATTTAATGTGAATACTGTTAAACAGAAAATAATTGCTTATAAAAGTCTAACTT
CACCCAGTTACCAAGTCTTGGCCAAATTTTATCTTCTGCCTATAGTTTTTACTAGCCTTTTTAAACTATAATAGTGAGTGATCATTACTTTATATTCTCGTAAGTTAGAAATACTTGAATGCCAAATT
AATTTTGTTTTAAGAAAGCTTATTTTTAACATAATTTTTTAGTGTGGAGGGTTTGTAAATAATGTAAAGTTTGTAAACCTGTATTTAAAATACCAAAGTTTTTCTTCTTTTATAACATTGTAAGATAC
TAGAAAAATGGGCTTCAAGTTTTTTAATAGCTTTCACAGTTTGTGTAGTTTTTTTTTTCTATTTGGTTAAGATGTGAGTTGGAAATGTATTATTTGAAACATTTAAACTAATTTTTGTATTTAACAGC
AGTCTCAGACATTTGTCTTTTCAACTCAGTTGAGTTGTAGATATCAAATAGAAATGTCCAGTTTTGCCTCTTTTAAGTACTGTCCAGTTGAAACCTCCTGACTCATGTACTACTACACAAACTAGAAA
ATGCCCATTTATTTTTGTTGATTCAACACTCCAGATACAGATTGATACATATATACTAATCATTTTATTTCATGTAAAAGTTTTACATCTAGGGTGCCTATTTATTTTTATAGATGCTTTCATCCAGT
TATAAGCTTATTATAACTTTGTAAATATTTCAGCCAACAGTTGTAATGTTTAAAATACTTACCTTCAGAATGTTATATTTTCATGTGAAATCAATTTCTTCTAATTCAAAAAAATTTTAAGATAAACT
GATTTTTAAGTTTA

hide sequence

RefSeq Acc Id:

NM_001389659 ⟹ NP_001376588

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	119,212,713 - 119,295,518 (+)	NCBI
T2T-CHM13v2.0	4	122,517,784 - 122,600,620 (+)	NCBI

Sequence:

show sequence

AGTTCCCGGTGAGCCTCGGTACTGTGGCAGCAGTCAGTGTGTCTGGCGGGTGTCGGCGTGAAGC
GGGGCTGGGCCAGCGGGAGGTAGCTCTGTGGGAGTGGAAGGCCTGTATTTCTCTACCTGGACCGCACGCTCCTCGCGCAAGGAGGGTAGAGCTCAAGAGACAGCATCTTGCTGCCACCCAGGCTGGAG
TGCAGTGGTGCAGTCTTAGCTTACTGCAGCCTCAAACTTCTGGGCTCAAGTAATCCTCCCGCCTCAGCTTCCTGAGTAGCTGAGATTACAGATTTGCTTTGAGGTCACATTGATATGAAATATGGAGT
CACCTTTTATAACTTCACCTGGGAAAGAGAGAGAAAACTTTCTTGTTAAAAAAACATAAGGAAAACAAACAACCAAAGGAATCATGCCAAATGCCAACTCTACATCTTTTTGTATTATTAACATATTT
TATGCATCAAGACAAATGGCTTATGCATTAAAGGGGATGATTCGTTCATCAGTATTTTTAGCCATTAAAAAAAATCGTTTTCATATTAACCTTATACAGCTCCCATAAAATTTAACACATATAAACAT
CTTTAACGCCTTGTTTAAAATAGCTTTCTTTTTTAGTGCTTAGAACTTCAATGTTTATGCACCCTATTGTTACTTGTCAGAGTCTTTAAGAGTTTATAACATCAGGAAAGATATGGACTTGGAAACTT
ACATTATTAAAATAGACTGCAGTGGATTTAATTGGACAATTCAAGACATCCATTTTATTGTCCAAAATATTACATAAAAGTGTACAGTTTTTAGCCTAAATGCAAACAAAGTTGCTTGAAAATGGCAT
GGGTAAAATTCTTACGGAAACCTGGTGGCAATCTTGGAAAAGTTTATCAGCCTGGAAGTATGCTATCACTAGCCCCTACCAAAGGCTTGTTAAATGAACCAGGACAAAACAGCTGCTTTCTTAATAGC
GCTGTACAGGTTTTATGGCAATTGGATATATTCCGACGAAGCTTGCGGGTTTTGACTGGACATGTTTGTCAGGGAGATGCCTGTATATTTTGTGCATTGAAGACGATATTTGCACAGTTCCAACACAG
TCGAGAAAAAGCACTTCCCTCAGATAACATAAGGCATGCTCTTGCAGAAAGTTTCAAAGATGAGCAGCGATTTCAACTTGGCCTTATGGATGATGCTGCGGAGTGCTTTGAAAATATGTTGGAGAGGA
TTCATTTTCACATAGTGCCAAGCAGAGATGCAGACATGTGTACCTCTAAATCTTGTATCACTCACCAGAAGTTTGCTATGACTCTGTATGAACAGTGTGTGTGTCGTAGCTGTGGAGCATCGTCAGAT
CCTCTACCTTTTACAGAATTTGTGCGGTACATTTCTACAACAGCCTTATGCAATGAGGTTGAAAGAATGTTGGAAAGGCATGAACGCTTTAAACCTGAAATGTTTGCAGAATTGCTACAAGCAGCAAA
TACAACAGATGACTATAGGAAATGTCCTAGTAACTGTGGCCAAAAAATAAAAATTCGCCGTGTTTTAATGAATTGCCCAGAGATTGTTACAATTGGTTTAGTCTGGGACTCCGAGCATTCTGACTTGA
CCGAAGCTGTTGTTCGGAATCTAGCAACACATCTTTATCTTCCTGGGCTTTTTTATAGAGTTACTGATGAAAATGCCAAAAATAGTGAACTTAACCTTGTTGGTATGATCTGCTACACCAGCCAACAT
TATTGTGCCTTTGCATTTCACACCAAAAGTTCCAAATGGGTATTTTTTGATGATGCAAATGTGAAAGAGATTGGAACTAGATGGAAAGATGTTGTCTCCAAATGCATTCGATGCCACTTTCAGCCACT
ACTTTTGTTTTATGCAAACCCAGATGGCACAGCAGTTTCTACTGAGGATGCACTCAGGCAGGTCATCAGCTGGTCACATTACAAATCTGTTGCAGAAAATATGGGATGTGAAAAGCCTGTAATTCATA
AGTCAGATAATTTAAAAGAAAATGGATTTGGTGATCAGGCAAAGCAGAGAGAAAATCAGAAATTTCCAACTGATAATATTTCATCATCTAATCGGAGCCACAGTCACACAGGTGTAGGGAAAGGACCA
GCTAAGTTAAGTCACATTGATCAAAGGGAAAAGATAAAAGACATTTCCAGAGAATGTGCTCTGAAAGCTATTGAACAGAAAAACTTACTTTCTTCACAAAGGAAAGATTTAGAGAAGGGACAAAGAAA
AGATTTAGGACGACATAGAGATTTGGTTGATGAAGACCTTTCACATTTCCAATCTGGATCACCTCCTGCCCCAAATGGTTTTAAACAACATGGGAATCCACATCTATATCATAGTCAAGGAAAAGGAT
CATATAAACATGACCGAGTTGTACCTCAGAGTCGAGCTTCTGCACAAATAATAAGTTCAAGTAAATCCCAGATTCTTGCTCCAGGAGAGAAAATAACTGGCAAAGTTAAGAGTGACAATGGCACTGGA
TATGACACAGACAGCAGCCAAGATTCTAGGGATAGAGGAAACAGCTGTGATAGCAGCAGTAAAAGCCGGAACCGAGGTTGGAAACCTATGAGAGAAACATTAAATGTTGATAGTATTTTTAGTGAAAG
TGAAAAAAGACAGCATAGTCCAAGACATAAACCAAATATCAGTAATAAGCCTAAATCTAGCAAGGATCCGAGTTTTAGTAATTGGCCAAAAGAGAATCCAAAGCAAAAAGGTTTAATGACCATATATG
AAGATGAAATGAAGCAGGAAATAGGAAGCAGAAGTTCCCTTGAATCTAATGGAAAAGGAGCAGAGAAAAATAAAGGCCTTGTAGAGGGTAAAGTGCATGGTGATAATTGGCAGATGCAAAGGACTGAG
TCTGGATATGAAAGCAGTGATCACATCAGTAATGGTTCTACTAATTTGGACTCACCTGTTATCGATGGAAATGGTACAGTAATGGATATCAGTGGTGTTAAAGAAACAGTATGCTTCAGTGACCAGAT
TACGACAAGCAACCTAAATAAAGAACGTGGGGACTGTACCTCCCTTCAGAGCCAACATCACTTAGAAGGCTTTAGAAAAGAACTCAGGAATTTGGAAGCAGGCTATAAATCTCATGAATTCCACCCAG
AATCACATTTACAAATAAAAAATCATTTGATAAAAAGATCACATGTACATGAAGACAATGGAAAGTTATTTCCTTCATCCAGTCTACAAATACCCAAGGACCATAATGCAAGAGAACATATCCACCAG
TCAGATGAACAGAAACTTGAAAAACCGAATGAATGCAAATTTTCTGAGTGGCTTAATATAGAAAATTCTGAGAGAACAGGTTTGCCTTTTCACGTTGATAACTCTGCTTCTGGGAAGAGAGTGAACAG
TAATGAACCATCTTCATTATGGTCTTCACACCTAAGAACTGTTGGGTTAAAGCCAGAAACTGCTCCTCTCATCCAGCAACAAAATATCATGGATCAATGTTACTTTGAGAACTCTCTATCCACAGAAT
GTATAATTCGGTCAGCCAGCAGATCTGATGGGTGTCAGATGCCAAAACTTTTTTGCCAGAATCTACCACCCCCTTTGCCACCAAAGAAATATGCTATAACCAGTGTGCCACAGTCAGAGAAAAGCGAA
TCTACACCTGATGTCAAACTTACAGAGGTGTTTAAAGCTACCTCTCATCTTCCGAAGCACAGTTTAAGTACAGCTTCAGAACCAAGTTTAGAAGTGAGTACACATATGAATGATGAAAGACATAAAGA
AACATTTCAAGTGAGAGAATGTTTTGGCAACACACCAAACTGTCCATCCAGCTCCTCAACTAACGATTTTCAGGCAAACTCAGGTGCCATTGATGCATTTTGCCAACCAGAACTAGACTCTATTTCTA
CCTGTCCAAATGAGACAGTTTCATTAACTACCTATTTTTCAGTTGATAGCTGCATGACGGATACATATAGATTGAAATACCATCAGAGGCCCAAGCTCTCTTTTCCAGAGAGCAGTGGCTTTTGTAAT
AATTCACTATCTTAGAGTGAAAAAGGACTAGACCTGTGTTACATAATAATCTTGGTTCAAGCTGCCCTTCTGAACAAAGATATAAACCTAGCATACATTGTAATAGATAACTGGTAAAACTGACCAAC
TTTTACTTCTCAGAGGCCATTTAAATATAATAGGAACCTACTGACCAAACCTAGTGATACATAAAATTAAAGCCTGTGGCATTTTTAAAGTTGTTAATCACTATACATATGTATGTGTATATGTGTAT
ACACATATATAATTTTATGATCAATATCTTAGATATTTTAGAAATTCCCTTTGAATAGTCTTGGCGTGCCGTGAAAAATAGAAAATCAGGGAGATATAATAATTCATTTGTCATATGCTACAGTTGAA
TAAAAATTAAATTTGTCCCCCTATTTTGTGGCCAGTAGACTGGGAAGTATTAAACTAACCAGTACTCATGTATGGAGATTATAAACTATGCTAATTGAAAAGTACCAGGTGATACATAGCCTGGTACT
TTTTTGTCAAAGAATTGCTTTATGAAGAAGCACTTTCTAATGGGTAACCAGAAAAGGGCTTCACCCATTTGTTTTTGACTTCTATGATAGTCACTGCATATGATCCCTTTAAGTGTCTTTAAAAAAAA
TGACTTATGAATTTGATAGCATTTGGGGAAAAAAAGCCTTATATGATTAACAATTTGTAAGTTTTCAAGATCGGATGGAATTTAATTTTGCTCCTAGAATTTTTGTCTTCAGAATATCTAGTTAAGAT
AAATTAGGCCTTTGACTATTATAGGTATTCATAAATGCTACTTTAGCCATGTAAGTTAAAAAGTTAAAATACTTAAACTTTAGTGTATTTATTTATCTCGTTACTTTTTTTCTAATTTTATATGAAAT
GTGAAAGGTCTTTATTTTGGTTTGGTTTACTTTGGGCTGCTAACCACCAGTGTTAGGAATTAATGTAGGGCACCCTCTTATTGGGAATGTCACTGTAATTGCCTACATTTTCTTTGCTGTAATATTAC
CTGCTTATAGGTTGTCAACCCATTTTATCTGAATTTGAAAATCTATCTAGGTTTCCAGATTAAATTTCTACCTTTCATATAGAGAGTTTAATTTTAATAAAATGTTTAATTAGAGCATCCTTCCCTTT
TATTCTACTTTGAACAAATAGTAATTTTACCCCAACTACTTTTCATGAAGAGTGCTTTGAAAATTAAAGGAATTTTTATTATTATGGTAACCTTATGAGTAAAAATAAGTTACTTTAATTGCTTTATT
TCGTTAGTTGTCATTTTATTTTGTACTATGCTGGTAAACTAATTGTGGTTTAGAATAGTTTTATGTTCACTCCTGATAACTGAGAAACAGAACTAAAGTTTTCCTTACATTGCTAAATGGATAAACCT
CATATTCAATAAACTAGTAAATGTAGCCACTTGACTGATTGCGTAAATCGTGTTAAAACATTCTAAAATGTTGTAACTAATTTAATGTGAATACTGTTAAACAGAAAATAATTGCTTATAAAAGTCTA
ACTTCACCCAGTTACCAAGTCTTGGCCAAATTTTATCTTCTGCCTATAGTTTTTACTAGCCTTTTTAAACTATAATAGTGAGTGATCATTACTTTATATTCTCGTAAGTTAGAAATACTTGAATGCCA
AATTAATTTTGTTTTAAGAAAGCTTATTTTTAACATAATTTTTTAGTGTGGAGGGTTTGTAAATAATGTAAAGTTTGTAAACCTGTATTTAAAATACCAAAGTTTTTCTTCTTTTATAACATTGTAAG
ATACTAGAAAAATGGGCTTCAAGTTTTTTAATAGCTTTCACAGTTTGTGTAGTTTTTTTTTTCTATTTGGTTAAGATGTGAGTTGGAAATGTATTATTTGAAACATTTAAACTAATTTTTGTATTTAA
CAGCAGTCTCAGACATTTGTCTTTTCAACTCAGTTGAGTTGTAGATATCAAATAGAAATGTCCAGTTTTGCCTCTTTTAAGTACTGTCCAGTTGAAACCTCCTGACTCATGTACTACTACACAAACTA
GAAAATGCCCATTTATTTTTGTTGATTCAACACTCCAGATACAGATTGATACATATATACTAATCATTTTATTTCATGTAAAAGTTTTACATCTAGGGTGCCTATTTATTTTTATAGATGCTTTCATC
CAGTTATAAGCTTATTATAACTTTGTAAATATTTCAGCCAACAGTTGTAATGTTTAAAATACTTACCTTCAGAATGTTATATTTTCATGTGAAATCAATTTCTTCTAATTCAAAAAAATTTTAAGATA
AACTGATTTTTAAGTTTA

hide sequence

RefSeq Acc Id:

NM_001389660 ⟹ NP_001376589

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	119,212,713 - 119,295,518 (+)	NCBI
T2T-CHM13v2.0	4	122,517,784 - 122,600,620 (+)	NCBI

Sequence:

show sequence

AGTTCCCGGTGAGCCTCGGTACTGTGGCAGCAGTCAGTGTGTCTGGCGGGTGTCGGCGTGAAGC
GGGGCTGGGCCAGCGGGAGGTAGCTCTGTGGGAGTGGAAGGCCTGTATTTCTCTACCTGGACCGCACGCTCCTCGCGCAAGGAGGGTAGAGCTCAAGATGCTTGGGATTTGCTTTACATTCTAAGTGG
ATTTGGAGAAGAGACAATAAAGAATAAGCAGTCAATTCTATAATATATTTAGAAGGAGAAAAGTGCCAAGGAGGAATGAAAAAGTAGAACAAGATTTGCTTTGAGGTCACATTGATATGAAATATGGA
GTCACCTTTTATAACTTCACCTGGGAAAGAGAGAGAAAACTTTCTTGTTAAAAAAACATAAGGAAAACAAACAACCAAAGGAATCATGCCAAATGCCAACTCTACATCTTTTTGTATTATTAACATAT
TTTATGCATCAAGACAAATGGCTTATGCATTAAAGGGGATGATTCGTTCATCAGTATTTTTAGCCATTAAAAAAAATCGTTTTCATATTAACCTTATACAGCTCCCATAAAATTTAACACATATAAAC
ATCTTTAACGCCTTGTTTAAAATAGCTTTCTTTTTTAGTGCTTAGAACTTCAATGTTTATGCACCCTATTGTTACTTGTCAGAGTCTTTAAGAGTTTATAACATCAGGAAAGATATGGACTTGGAAAC
TTACATTATTAAAATAGACTGCAGTGGATTTAATTGGACAATTCAAGACATCCATTTTATTGTCCAAAATATTACATAAAAGTGTACAGTTTTTAGCCTAAATGCAAACAAAGTTGCTTGAAAATGGC
ATGGGTAAAATTCTTACGGAAACCTGGTGGCAATCTTGGAAAAGTTTATCAGCCTGGAAGTATGCTATCACTAGCCCCTACCAAAGGCTTGTTAAATGAACCAGGACAAAACAGCTGCTTTCTTAATA
GCGCTGTACAGGTTTTATGGCAATTGGATATATTCCGACGAAGCTTGCGGGTTTTGACTGGACATGTTTGTCAGGGAGATGCCTGTATATTTTGTGCATTGAAGACGATATTTGCACAGTTCCAACAC
AGTCGAGAAAAAGCACTTCCCTCAGATAACATAAGGCATGCTCTTGCAGAAAGTTTCAAAGATGAGCAGCGATTTCAACTTGGCCTTATGGATGATGCTGCGGAGTGCTTTGAAAATATGTTGGAGAG
GATTCATTTTCACATAGTGCCAAGCAGAGATGCAGACATGTGTACCTCTAAATCTTGTATCACTCACCAGAAGTTTGCTATGACTCTGTATGAACAGTGTGTGTGTCGTAGCTGTGGAGCATCGTCAG
ATCCTCTACCTTTTACAGAATTTGTGCGGTACATTTCTACAACAGCCTTATGCAATGAGGTTGAAAGAATGTTGGAAAGGCATGAACGCTTTAAACCTGAAATGTTTGCAGAATTGCTACAAGCAGCA
AATACAACAGATGACTATAGGAAATGTCCTAGTAACTGTGGCCAAAAAATAAAAATTCGCCGTGTTTTAATGAATTGCCCAGAGATTGTTACAATTGGTTTAGTCTGGGACTCCGAGCATTCTGACTT
GACCGAAGCTGTTGTTCGGAATCTAGCAACACATCTTTATCTTCCTGGGATTGGAACTAGATGGAAAGATGTTGTCTCCAAATGCATTCGATGCCACTTTCAGCCACTACTTTTGTTTTATGCAAACC
CAGATGGCACAGCAGTTTCTACTGAGGATGCACTCAGGCAGGTCATCAGCTGGTCACATTACAAATCTGTTGCAGAAAATATGGGATGTGAAAAGCCTGTAATTCATAAGTCAGATAATTTAAAAGAA
AATGGATTTGGTGATCAGGCAAAGCAGAGAGAAAATCAGAAATTTCCAACTGATAATATTTCATCATCTAATCGGAGCCACAGTCACACAGGTGTAGGGAAAGGACCAGCTAAGTTAAGTCACATTGA
TCAAAGGGAAAAGATAAAAGACATTTCCAGAGAATGTGCTCTGAAAGCTATTGAACAGAAAAACTTACTTTCTTCACAAAGGAAAGATTTAGAGAAGGGACAAAGAAAAGATTTAGGACGACATAGAG
ATTTGGTTGATGAAGACCTTTCACATTTCCAATCTGGATCACCTCCTGCCCCAAATGGTTTTAAACAACATGGGAATCCACATCTATATCATAGTCAAGGAAAAGGATCATATAAACATGACCGAGTT
GTACCTCAGAGTCGAGCTTCTGCACAAATAATAAGTTCAAGTAAATCCCAGATTCTTGCTCCAGGAGAGAAAATAACTGGCAAAGTTAAGAGTGACAATGGCACTGGATATGACACAGACAGCAGCCA
AGATTCTAGGGATAGAGGAAACAGCTGTGATAGCAGCAGTAAAAGCCGGAACCGAGGTTGGAAACCTATGAGAGAAACATTAAATGTTGATAGTATTTTTAGTGAAAGTGAAAAAAGACAGCATAGTC
CAAGACATAAACCAAATATCAGTAATAAGCCTAAATCTAGCAAGGATCCGAGTTTTAGTAATTGGCCAAAAGAGAATCCAAAGCAAAAAGGTTTAATGACCATATATGAAGATGAAATGAAGCAGGAA
ATAGGAAGCAGAAGTTCCCTTGAATCTAATGGAAAAGGAGCAGAGAAAAATAAAGGCCTTGTAGAGGGTAAAGTGCATGGTGATAATTGGCAGATGCAAAGGACTGAGTCTGGATATGAAAGCAGTGA
TCACATCAGTAATGGTTCTACTAATTTGGACTCACCTGTTATCGATGGAAATGGTACAGTAATGGATATCAGTGGTGTTAAAGAAACAGTATGCTTCAGTGACCAGATTACGACAAGCAACCTAAATA
AAGAACGTGGGGACTGTACCTCCCTTCAGAGCCAACATCACTTAGAAGGCTTTAGAAAAGAACTCAGGAATTTGGAAGCAGGCTATAAATCTCATGAATTCCACCCAGAATCACATTTACAAATAAAA
AATCATTTGATAAAAAGATCACATGTACATGAAGACAATGGAAAGTTATTTCCTTCATCCAGTCTACAAATACCCAAGGACCATAATGCAAGAGAACATATCCACCAGTCAGATGAACAGAAACTTGA
AAAACCGAATGAATGCAAATTTTCTGAGTGGCTTAATATAGAAAATTCTGAGAGAACAGGTTTGCCTTTTCACGTTGATAACTCTGCTTCTGGGAAGAGAGTGAACAGTAATGAACCATCTTCATTAT
GGTCTTCACACCTAAGAACTGTTGGGTTAAAGCCAGAAACTGCTCCTCTCATCCAGCAACAAAATATCATGGATCAATGTTACTTTGAGAACTCTCTATCCACAGAATGTATAATTCGGTCAGCCAGC
AGATCTGATGGGTGTCAGATGCCAAAACTTTTTTGCCAGAATCTACCACCCCCTTTGCCACCAAAGAAATATGCTATAACCAGTGTGCCACAGTCAGAGAAAAGCGAATCTACACCTGATGTCAAACT
TACAGAGGTGTTTAAAGCTACCTCTCATCTTCCGAAGCACAGTTTAAGTACAGCTTCAGAACCAAGTTTAGAAGTGAGTACACATATGAATGATGAAAGACATAAAGAAACATTTCAAGTGAGAGAAT
GTTTTGGCAACACACCAAACTGTCCATCCAGCTCCTCAACTAACGATTTTCAGGCAAACTCAGGTGCCATTGATGCATTTTGCCAACCAGAACTAGACTCTATTTCTACCTGTCCAAATGAGACAGTT
TCATTAACTACCTATTTTTCAGTTGATAGCTGCATGACGGATACATATAGATTGAAATACCATCAGAGGCCCAAGCTCTCTTTTCCAGAGAGCAGTGGCTTTTGTAATAATTCACTATCTTAGAGTGA
AAAAGGACTAGACCTGTGTTACATAATAATCTTGGTTCAAGCTGCCCTTCTGAACAAAGATATAAACCTAGCATACATTGTAATAGATAACTGGTAAAACTGACCAACTTTTACTTCTCAGAGGCCAT
TTAAATATAATAGGAACCTACTGACCAAACCTAGTGATACATAAAATTAAAGCCTGTGGCATTTTTAAAGTTGTTAATCACTATACATATGTATGTGTATATGTGTATACACATATATAATTTTATGA
TCAATATCTTAGATATTTTAGAAATTCCCTTTGAATAGTCTTGGCGTGCCGTGAAAAATAGAAAATCAGGGAGATATAATAATTCATTTGTCATATGCTACAGTTGAATAAAAATTAAATTTGTCCCC
CTATTTTGTGGCCAGTAGACTGGGAAGTATTAAACTAACCAGTACTCATGTATGGAGATTATAAACTATGCTAATTGAAAAGTACCAGGTGATACATAGCCTGGTACTTTTTTGTCAAAGAATTGCTT
TATGAAGAAGCACTTTCTAATGGGTAACCAGAAAAGGGCTTCACCCATTTGTTTTTGACTTCTATGATAGTCACTGCATATGATCCCTTTAAGTGTCTTTAAAAAAAATGACTTATGAATTTGATAGC
ATTTGGGGAAAAAAAGCCTTATATGATTAACAATTTGTAAGTTTTCAAGATCGGATGGAATTTAATTTTGCTCCTAGAATTTTTGTCTTCAGAATATCTAGTTAAGATAAATTAGGCCTTTGACTATT
ATAGGTATTCATAAATGCTACTTTAGCCATGTAAGTTAAAAAGTTAAAATACTTAAACTTTAGTGTATTTATTTATCTCGTTACTTTTTTTCTAATTTTATATGAAATGTGAAAGGTCTTTATTTTGG
TTTGGTTTACTTTGGGCTGCTAACCACCAGTGTTAGGAATTAATGTAGGGCACCCTCTTATTGGGAATGTCACTGTAATTGCCTACATTTTCTTTGCTGTAATATTACCTGCTTATAGGTTGTCAACC
CATTTTATCTGAATTTGAAAATCTATCTAGGTTTCCAGATTAAATTTCTACCTTTCATATAGAGAGTTTAATTTTAATAAAATGTTTAATTAGAGCATCCTTCCCTTTTATTCTACTTTGAACAAATA
GTAATTTTACCCCAACTACTTTTCATGAAGAGTGCTTTGAAAATTAAAGGAATTTTTATTATTATGGTAACCTTATGAGTAAAAATAAGTTACTTTAATTGCTTTATTTCGTTAGTTGTCATTTTATT
TTGTACTATGCTGGTAAACTAATTGTGGTTTAGAATAGTTTTATGTTCACTCCTGATAACTGAGAAACAGAACTAAAGTTTTCCTTACATTGCTAAATGGATAAACCTCATATTCAATAAACTAGTAA
ATGTAGCCACTTGACTGATTGCGTAAATCGTGTTAAAACATTCTAAAATGTTGTAACTAATTTAATGTGAATACTGTTAAACAGAAAATAATTGCTTATAAAAGTCTAACTTCACCCAGTTACCAAGT
CTTGGCCAAATTTTATCTTCTGCCTATAGTTTTTACTAGCCTTTTTAAACTATAATAGTGAGTGATCATTACTTTATATTCTCGTAAGTTAGAAATACTTGAATGCCAAATTAATTTTGTTTTAAGAA
AGCTTATTTTTAACATAATTTTTTAGTGTGGAGGGTTTGTAAATAATGTAAAGTTTGTAAACCTGTATTTAAAATACCAAAGTTTTTCTTCTTTTATAACATTGTAAGATACTAGAAAAATGGGCTTC
AAGTTTTTTAATAGCTTTCACAGTTTGTGTAGTTTTTTTTTTCTATTTGGTTAAGATGTGAGTTGGAAATGTATTATTTGAAACATTTAAACTAATTTTTGTATTTAACAGCAGTCTCAGACATTTGT
CTTTTCAACTCAGTTGAGTTGTAGATATCAAATAGAAATGTCCAGTTTTGCCTCTTTTAAGTACTGTCCAGTTGAAACCTCCTGACTCATGTACTACTACACAAACTAGAAAATGCCCATTTATTTTT
GTTGATTCAACACTCCAGATACAGATTGATACATATATACTAATCATTTTATTTCATGTAAAAGTTTTACATCTAGGGTGCCTATTTATTTTTATAGATGCTTTCATCCAGTTATAAGCTTATTATAA
CTTTGTAAATATTTCAGCCAACAGTTGTAATGTTTAAAATACTTACCTTCAGAATGTTATATTTTCATGTGAAATCAATTTCTTCTAATTCAAAAAAATTTTAAGATAAACTGATTTTTAAGTTTA

hide sequence

RefSeq Acc Id:

NM_001389661 ⟹ NP_001376590

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	119,212,713 - 119,295,518 (+)	NCBI
T2T-CHM13v2.0	4	122,517,784 - 122,600,620 (+)	NCBI

Sequence:

show sequence

AGTTCCCGGTGAGCCTCGGTACTGTGGCAGCAGTCAGTGTGTCTGGCGGGTGTCGGCGTGAAGCGGGGCTGGGCCAGCGGGAGGTAGCTCTGTGGGAGTGGAAGGCCTGTATTTCTCTACCTGGACCG
CACGCTCCTCGCGCAAGGAGGGTAGAGCTCAAGTTCCGTGATGATGGTCTAAGCAAAGACCCTTCGTCCTGTTAAAGATAAATTAAAAAAAAAAAAAAAAAACCAAAGGGAACAAAACTTACTCTGCA
AAAGTAATATATGATTTACCTGCTGTTGTCATAAGAATTCCAAATAGACAAACTCGGTATGCTTGGGATTTGCTTTACATTCTAAGTGGATTTGGAGAAGAGACAATAAAGAATAAGCAGTCAATTCT
ATAATATATTTAGAAGGAGAAAAGTGCCAAGGAGGAATGAAAAAGTAGAACAAGATTTGCTTTGAGGTCACATTGATATGAAATATGGAGTCACCTTTTATAACTTCACCTGGGAAAGAGAGAGAAAA
CTTTCTTGTTAAAAAAACATAAGGAAAACAAACAACCAAAGGAATCATGCCAAATGCCAACTCTACATCTTTTTGTATTATTAACATATTTTATGCATCAAGACAAATGGCTTATGCATTAAAGGGGA
TGATTCGTTCATCAGTATTTTTAGCCATTAAAAAAAATCGTTTTCATATTAACCTTATACAGCTCCCATAAAATTTAACACATATAAACATCTTTAACGCCTTGTTTAAAATAGCTTTCTTTTTTAGT
GCTTAGAACTTCAATGTTTATGCACCCTATTGTTACTTGTCAGAGTCTTTAAGAGTTTATAACATCAGGAAAGATATGGACTTGGAAACTTACATTATTAAAATAGACTGCAGTGGATTTAATTGGAC
AATTCAAGACATCCATTTTATTGTCCAAAATATTACATAAAAGTGTACAGTTTTTAGCCTAAATGCAAACAAAGTTGCTTGAAAATGGCATGGGTAAAATTCTTACGGAAACCTGGTGGCAATCTTGG
AAAAGTTTATCAGCCTGGAAGTATGCTATCACTAGCCCCTACCAAAGGCTTGTTAAATGAACCAGGACAAAACAGCTGCTTTCTTAATAGCGCTGTACAGGTTTTATGGCAATTGGATATATTCCGAC
GAAGCTTGCGGGTTTTGACTGGACATGTTTGTCAGGGAGATGCCTGTATATTTTGTGCATTGAAGACGATATTTGCACAGTTCCAACACAGTCGAGAAAAAGCACTTCCCTCAGATAACATAAGGCAT
GCTCTTGCAGAAAGTTTCAAAGATGAGCAGCGATTTCAACTTGGCCTTATGGATGATGCTGCGGAGTGCTTTGAAAATATGTTGGAGAGGATTCATTTTCACATAGTGCCAAGCAGAGATGCAGACAT
GTGTACCTCTAAATCTTGTATCACTCACCAGAAGTTTGCTATGACTCTGTATGAACAGTGTGTGTGTCGTAGCTGTGGAGCATCGTCAGATCCTCTACCTTTTACAGAATTTGTGCGGTACATTTCTA
CAACAGCCTTATGCAATGAGGTTGAAAGAATGTTGGAAAGGCATGAACGCTTTAAACCTGAAATGTTTGCAGAATTGCTACAAGCAGCAAATACAACAGATGACTATAGGAAATGTCCTAGTAACTGT
GGCCAAAAAATAAAAATTCGCCGTGTTTTAATGAATTGCCCAGAGATTGTTACAATTGGTTTAGTCTGGGACTCCGAGCATTCTGACTTGACCGAAGCTGTTGTTCGGAATCTAGCAACACATCTTTA
TCTTCCTGGGCTTTTTTATAGAGTTACTGATGAAAATGCCAAAAATAGTGAACTTAACCTTGTTGGTATGATCTGCTACACCAGCCAACATTATTGTGCCTTTGCATTTCACACCAAAAGTTCCAAAT
GGGTATTTTTTGATGATGCAAATGTGAAAGAGATTGGAACTAGATGGAAAGATGTTGTCTCCAAATGCATTCGATGCCACTTTCAGCCACTACTTTTGTTTTATGCAAACCCAGATGGCACAGCAGTT
TCTACTGAGGATGCACTCAGGCAGGTCATCAGCTGGTCACATTACAAATCTGTTGCAGAAAATATGGCTAAGTTAAGTCACATTGATCAAAGGGAAAAGATAAAAGACATTTCCAGAGAATGTGCTCT
GAAAGCTATTGAACAGAAAAACTTACTTTCTTCACAAAGGAAAGATTTAGAGAAGGGACAAAGAAAAGATTTAGGACGACATAGAGATTTGGTTGATGAAGACCTTTCACATTTCCAATCTGGATCAC
CTCCTGCCCCAAATGGTTTTAAACAACATGGGAATCCACATCTATATCATAGTCAAGGAAAAGGATCATATAAACATGACCGAGTTGTACCTCAGAGTCGAGCTTCTGCACAAATAATAAGTTCAAGT
AAATCCCAGATTCTTGCTCCAGGAGAGAAAATAACTGGCAAAGTTAAGAGTGACAATGGCACTGGATATGACACAGACAGCAGCCAAGATTCTAGGGATAGAGGAAACAGCTGTGATAGCAGCAGTAA
AAGCCGGAACCGAGGTTGGAAACCTATGAGAGAAACATTAAATGTTGATAGTATTTTTAGTGAAAGTGAAAAAAGACAGCATAGTCCAAGACATAAACCAAATATCAGTAATAAGCCTAAATCTAGCA
AGGATCCGAGTTTTAGTAATTGGCCAAAAGAGAATCCAAAGCAAAAAGGTTTAATGACCATATATGAAGATGAAATGAAGCAGGAAATAGGAAGCAGAAGTTCCCTTGAATCTAATGGAAAAGGAGCA
GAGAAAAATAAAGGCCTTGTAGAGGGTAAAGTGCATGGTGATAATTGGCAGATGCAAAGGACTGAGTCTGGATATGAAAGCAGTGATCACATCAGTAATGGTTCTACTAATTTGGACTCACCTGTTAT
CGATGGAAATGGTACAGTAATGGATATCAGTGGTGTTAAAGAAACAGTATGCTTCAGTGACCAGATTACGACAAGCAACCTAAATAAAGAACGTGGGGACTGTACCTCCCTTCAGAGCCAACATCACT
TAGAAGGCTTTAGAAAAGAACTCAGGAATTTGGAAGCAGGCTATAAATCTCATGAATTCCACCCAGAATCACATTTACAAATAAAAAATCATTTGATAAAAAGATCACATGTACATGAAGACAATGGA
AAGTTATTTCCTTCATCCAGTCTACAAATACCCAAGGACCATAATGCAAGAGAACATATCCACCAGTCAGATGAACAGAAACTTGAAAAACCGAATGAATGCAAATTTTCTGAGTGGCTTAATATAGA
AAATTCTGAGAGAACAGGTTTGCCTTTTCACGTTGATAACTCTGCTTCTGGGAAGAGAGTGAACAGTAATGAACCATCTTCATTATGGTCTTCACACCTAAGAACTGTTGGGTTAAAGCCAGAAACTG
CTCCTCTCATCCAGCAACAAAATATCATGGATCAATGTTACTTTGAGAACTCTCTATCCACAGAATGTATAATTCGGTCAGCCAGCAGATCTGATGGGTGTCAGATGCCAAAACTTTTTTGCCAGAAT
CTACCACCCCCTTTGCCACCAAAGAAATATGCTATAACCAGTGTGCCACAGTCAGAGAAAAGCGAATCTACACCTGATGTCAAACTTACAGAGGTGTTTAAAGCTACCTCTCATCTTCCGAAGCACAG
TTTAAGTACAGCTTCAGAACCAAGTTTAGAAGTGAGTACACATATGAATGATGAAAGACATAAAGAAACATTTCAAGTGAGAGAATGTTTTGGCAACACACCAAACTGTCCATCCAGCTCCTCAACTA
ACGATTTTCAGGCAAACTCAGGTGCCATTGATGCATTTTGCCAACCAGAACTAGACTCTATTTCTACCTGTCCAAATGAGACAGTTTCATTAACTACCTATTTTTCAGTTGATAGCTGCATGACGGAT
ACATATAGATTGAAATACCATCAGAGGCCCAAGCTCTCTTTTCCAGAGAGCAGTGGCTTTTGTAATAATTCACTATCTTAGAGTGAAAAAGGACTAGACCTGTGTTACATAATAATCTTGGTTCAAGC
TGCCCTTCTGAACAAAGATATAAACCTAGCATACATTGTAATAGATAACTGGTAAAACTGACCAACTTTTACTTCTCAGAGGCCATTTAAATATAATAGGAACCTACTGACCAAACCTAGTGATACAT
AAAATTAAAGCCTGTGGCATTTTTAAAGTTGTTAATCACTATACATATGTATGTGTATATGTGTATACACATATATAATTTTATGATCAATATCTTAGATATTTTAGAAATTCCCTTTGAATAGTCTT
GGCGTGCCGTGAAAAATAGAAAATCAGGGAGATATAATAATTCATTTGTCATATGCTACAGTTGAATAAAAATTAAATTTGTCCCCCTATTTTGTGGCCAGTAGACTGGGAAGTATTAAACTAACCAG
TACTCATGTATGGAGATTATAAACTATGCTAATTGAAAAGTACCAGGTGATACATAGCCTGGTACTTTTTTGTCAAAGAATTGCTTTATGAAGAAGCACTTTCTAATGGGTAACCAGAAAAGGGCTTC
ACCCATTTGTTTTTGACTTCTATGATAGTCACTGCATATGATCCCTTTAAGTGTCTTTAAAAAAAATGACTTATGAATTTGATAGCATTTGGGGAAAAAAAGCCTTATATGATTAACAATTTGTAAGT
TTTCAAGATCGGATGGAATTTAATTTTGCTCCTAGAATTTTTGTCTTCAGAATATCTAGTTAAGATAAATTAGGCCTTTGACTATTATAGGTATTCATAAATGCTACTTTAGCCATGTAAGTTAAAAA
GTTAAAATACTTAAACTTTAGTGTATTTATTTATCTCGTTACTTTTTTTCTAATTTTATATGAAATGTGAAAGGTCTTTATTTTGGTTTGGTTTACTTTGGGCTGCTAACCACCAGTGTTAGGAATTA
ATGTAGGGCACCCTCTTATTGGGAATGTCACTGTAATTGCCTACATTTTCTTTGCTGTAATATTACCTGCTTATAGGTTGTCAACCCATTTTATCTGAATTTGAAAATCTATCTAGGTTTCCAGATTA
AATTTCTACCTTTCATATAGAGAGTTTAATTTTAATAAAATGTTTAATTAGAGCATCCTTCCCTTTTATTCTACTTTGAACAAATAGTAATTTTACCCCAACTACTTTTCATGAAGAGTGCTTTGAAA
ATTAAAGGAATTTTTATTATTATGGTAACCTTATGAGTAAAAATAAGTTACTTTAATTGCTTTATTTCGTTAGTTGTCATTTTATTTTGTACTATGCTGGTAAACTAATTGTGGTTTAGAATAGTTTT
ATGTTCACTCCTGATAACTGAGAAACAGAACTAAAGTTTTCCTTACATTGCTAAATGGATAAACCTCATATTCAATAAACTAGTAAATGTAGCCACTTGACTGATTGCGTAAATCGTGTTAAAACATT
CTAAAATGTTGTAACTAATTTAATGTGAATACTGTTAAACAGAAAATAATTGCTTATAAAAGTCTAACTTCACCCAGTTACCAAGTCTTGGCCAAATTTTATCTTCTGCCTATAGTTTTTACTAGCCT
TTTTAAACTATAATAGTGAGTGATCATTACTTTATATTCTCGTAAGTTAGAAATACTTGAATGCCAAATTAATTTTGTTTTAAGAAAGCTTATTTTTAACATAATTTTTTAGTGTGGAGGGTTTGTAA
ATAATGTAAAGTTTGTAAACCTGTATTTAAAATACCAAAGTTTTTCTTCTTTTATAACATTGTAAGATACTAGAAAAATGGGCTTCAAGTTTTTTAATAGCTTTCACAGTTTGTGTAGTTTTTTTTTT
CTATTTGGTTAAGATGTGAGTTGGAAATGTATTATTTGAAACATTTAAACTAATTTTTGTATTTAACAGCAGTCTCAGACATTTGTCTTTTCAACTCAGTTGAGTTGTAGATATCAAATAGAAATGTC
CAGTTTTGCCTCTTTTAAGTACTGTCCAGTTGAAACCTCCTGACTCATGTACTACTACACAAACTAGAAAATGCCCATTTATTTTTGTTGATTCAACACTCCAGATACAGATTGATACATATATACTA
ATCATTTTATTTCATGTAAAAGTTTTACATCTAGGGTGCCTATTTATTTTTATAGATGCTTTCATCCAGTTATAAGCTTATTATAACTTTGTAAATATTTCAGCCAACAGTTGTAATGTTTAAAATAC
TTACCTTCAGAATGTTATATTTTCATGTGAAATCAATTTCTTCTAATTCAAAAAAATTTTAAGATAAACTGATTTTTAAGTTTA

hide sequence

RefSeq Acc Id:

NM_001389662 ⟹ NP_001376591

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	119,212,713 - 119,295,518 (+)	NCBI
T2T-CHM13v2.0	4	122,517,784 - 122,600,620 (+)	NCBI

Sequence:

show sequence

AGTTCCCGGTGAGCCTCGGTACTGTGGCAGCAGTCAGTGTGTCTGGCGGGTGTCGGCGTGAAGCGGGGCTGGGCCAGCGGGAGGTAGCTCTGTGGGAGTGGAAGGCCTGTATTTCTCTACCTGGACCG
CACGCTCCTCGCGCAAGGAGGGTAGAGCTCAAGATGCTTGGGATTTGCTTTACATTCTAAGTGGATTTGGAGAAGAGACAATAAAGAATAAGCAGTCAATTCTATAATATATTTAGAAGGAGAAAAGT
GCCAAGGAGGAATGAAAAAGTAGAACAAGGTTTTATGGCAATTGGATATATTCCGACGAAGCTTGCGGGTTTTGACTGGACATGTTTGTCAGGGAGATGCCTGTATATTTTGTGCATTGAAGACGATA
TTTGCACAGTTCCAACACAGTCGAGAAAAAGCACTTCCCTCAGATAACATAAGGCATGCTCTTGCAGAAAGTTTCAAAGATGAGCAGCGATTTCAACTTGGCCTTATGGATGATGCTGCGGAGTGCTT
TGAAAATATGTTGGAGAGGATTCATTTTCACATAGTGCCAAGCAGAGATGCAGACATGTGTACCTCTAAATCTTGTATCACTCACCAGAAGTTTGCTATGACTCTGTATGAACAGTGTGTGTGTCGTA
GCTGTGGAGCATCGTCAGATCCTCTACCTTTTACAGAATTTGTGCGGTACATTTCTACAACAGCCTTATGCAATGAGGTTGAAAGAATGTTGGAAAGGCATGAACGCTTTAAACCTGAAATGTTTGCA
GAATTGCTACAAGCAGCAAATACAACAGATGACTATAGGAAATGTCCTAGTAACTGTGGCCAAAAAATAAAAATTCGCCGTGTTTTAATGAATTGCCCAGAGATTGTTACAATTGGTTTAGTCTGGGA
CTCCGAGCATTCTGACTTGACCGAAGCTGTTGTTCGGAATCTAGCAACACATCTTTATCTTCCTGGGCTTTTTTATAGAGTTACTGATGAAAATGCCAAAAATAGTGAACTTAACCTTGTTGGTATGA
TCTGCTACACCAGCCAACATTATTGTGCCTTTGCATTTCACACCAAAAGTTCCAAATGGGTATTTTTTGATGATGCAAATGTGAAAGAGATTGGAACTAGATGGAAAGATGTTGTCTCCAAATGCATT
CGATGCCACTTTCAGCCACTACTTTTGTTTTATGCAAACCCAGATGGCACAGCAGTTTCTACTGAGGATGCACTCAGGCAGGTCATCAGCTGGTCACATTACAAATCTGTTGCAGAAAATATGGGATG
TGAAAAGCCTGTAATTCATAAGTCAGATAATTTAAAAGAAAATGGATTTGGTGATCAGGCAAAGCAGAGAGAAAATCAGAAATTTCCAACTGATAATATTTCATCATCTAATCGGAGCCACAGTCACA
CAGGTGTAGGGAAAGGACCAGCTAAGTTAAGTCACATTGATCAAAGGGAAAAGATAAAAGACATTTCCAGAGAATGTGCTCTGAAAGCTATTGAACAGAAAAACTTACTTTCTTCACAAAGGAAAGAT
TTAGAGAAGGGACAAAGAAAAGATTTAGGACGACATAGAGATTTGGTTGATGAAGACCTTTCACATTTCCAATCTGGATCACCTCCTGCCCCAAATGGTTTTAAACAACATGGGAATCCACATCTATA
TCATAGTCAAGGAAAAGGATCATATAAACATGACCGAGTTGTACCTCAGAGTCGAGCTTCTGCACAAATAATAAGTTCAAGTAAATCCCAGATTCTTGCTCCAGGAGAGAAAATAACTGGCAAAGTTA
AGAGTGACAATGGCACTGGATATGACACAGACAGCAGCCAAGATTCTAGGGATAGAGGAAACAGCTGTGATAGCAGCAGTAAAAGCCGGAACCGAGGTTGGAAACCTATGAGAGAAACATTAAATGTT
GATAGTATTTTTAGTGAAAGTGAAAAAAGACAGCATAGTCCAAGACATAAACCAAATATCAGTAATAAGCCTAAATCTAGCAAGGATCCGAGTTTTAGTAATTGGCCAAAAGAGAATCCAAAGCAAAA
AGGTTTAATGACCATATATGAAGATGAAATGAAGCAGGAAATAGGAAGCAGAAGTTCCCTTGAATCTAATGGAAAAGGAGCAGAGAAAAATAAAGGCCTTGTAGAGGGTAAAGTGCATGGTGATAATT
GGCAGATGCAAAGGACTGAGTCTGGATATGAAAGCAGTGATCACATCAGTAATGGTTCTACTAATTTGGACTCACCTGTTATCGATGGAAATGGTACAGTAATGGATATCAGTGGTGTTAAAGAAACA
GTATGCTTCAGTGACCAGATTACGACAAGCAACCTAAATAAAGAACGTGGGGACTGTACCTCCCTTCAGAGCCAACATCACTTAGAAGGCTTTAGAAAAGAACTCAGGAATTTGGAAGCAGGCTATAA
ATCTCATGAATTCCACCCAGAATCACATTTACAAATAAAAAATCATTTGATAAAAAGATCACATGTACATGAAGACAATGGAAAGTTATTTCCTTCATCCAGTCTACAAATACCCAAGGACCATAATG
CAAGAGAACATATCCACCAGTCAGATGAACAGAAACTTGAAAAACCGAATGAATGCAAATTTTCTGAGTGGCTTAATATAGAAAATTCTGAGAGAACAGGTTTGCCTTTTCACGTTGATAACTCTGCT
TCTGGGAAGAGAGTGAACAGTAATGAACCATCTTCATTATGGTCTTCACACCTAAGAACTGTTGGGTTAAAGCCAGAAACTGCTCCTCTCATCCAGCAACAAAATATCATGGATCAATGTTACTTTGA
GAACTCTCTATCCACAGAATGTATAATTCGGTCAGCCAGCAGATCTGATGGGTGTCAGATGCCAAAACTTTTTTGCCAGAATCTACCACCCCCTTTGCCACCAAAGAAATATGCTATAACCAGTGTGC
CACAGTCAGAGAAAAGCGAATCTACACCTGATGTCAAACTTACAGAGGTGTTTAAAGCTACCTCTCATCTTCCGAAGCACAGTTTAAGTACAGCTTCAGAACCAAGTTTAGAAGTGAGTACACATATG
AATGATGAAAGACATAAAGAAACATTTCAAGTGAGAGAATGTTTTGGCAACACACCAAACTGTCCATCCAGCTCCTCAACTAACGATTTTCAGGCAAACTCAGGTGCCATTGATGCATTTTGCCAACC
AGAACTAGACTCTATTTCTACCTGTCCAAATGAGACAGTTTCATTAACTACCTATTTTTCAGTTGATAGCTGCATGACGGATACATATAGATTGAAATACCATCAGAGGCCCAAGCTCTCTTTTCCAG
AGAGCAGTGGCTTTTGTAATAATTCACTATCTTAGAGTGAAAAAGGACTAGACCTGTGTTACATAATAATCTTGGTTCAAGCTGCCCTTCTGAACAAAGATATAAACCTAGCATACATTGTAATAGAT
AACTGGTAAAACTGACCAACTTTTACTTCTCAGAGGCCATTTAAATATAATAGGAACCTACTGACCAAACCTAGTGATACATAAAATTAAAGCCTGTGGCATTTTTAAAGTTGTTAATCACTATACAT
ATGTATGTGTATATGTGTATACACATATATAATTTTATGATCAATATCTTAGATATTTTAGAAATTCCCTTTGAATAGTCTTGGCGTGCCGTGAAAAATAGAAAATCAGGGAGATATAATAATTCATT
TGTCATATGCTACAGTTGAATAAAAATTAAATTTGTCCCCCTATTTTGTGGCCAGTAGACTGGGAAGTATTAAACTAACCAGTACTCATGTATGGAGATTATAAACTATGCTAATTGAAAAGTACCAG
GTGATACATAGCCTGGTACTTTTTTGTCAAAGAATTGCTTTATGAAGAAGCACTTTCTAATGGGTAACCAGAAAAGGGCTTCACCCATTTGTTTTTGACTTCTATGATAGTCACTGCATATGATCCCT
TTAAGTGTCTTTAAAAAAAATGACTTATGAATTTGATAGCATTTGGGGAAAAAAAGCCTTATATGATTAACAATTTGTAAGTTTTCAAGATCGGATGGAATTTAATTTTGCTCCTAGAATTTTTGTCT
TCAGAATATCTAGTTAAGATAAATTAGGCCTTTGACTATTATAGGTATTCATAAATGCTACTTTAGCCATGTAAGTTAAAAAGTTAAAATACTTAAACTTTAGTGTATTTATTTATCTCGTTACTTTT
TTTCTAATTTTATATGAAATGTGAAAGGTCTTTATTTTGGTTTGGTTTACTTTGGGCTGCTAACCACCAGTGTTAGGAATTAATGTAGGGCACCCTCTTATTGGGAATGTCACTGTAATTGCCTACAT
TTTCTTTGCTGTAATATTACCTGCTTATAGGTTGTCAACCCATTTTATCTGAATTTGAAAATCTATCTAGGTTTCCAGATTAAATTTCTACCTTTCATATAGAGAGTTTAATTTTAATAAAATGTTTA
ATTAGAGCATCCTTCCCTTTTATTCTACTTTGAACAAATAGTAATTTTACCCCAACTACTTTTCATGAAGAGTGCTTTGAAAATTAAAGGAATTTTTATTATTATGGTAACCTTATGAGTAAAAATAA
GTTACTTTAATTGCTTTATTTCGTTAGTTGTCATTTTATTTTGTACTATGCTGGTAAACTAATTGTGGTTTAGAATAGTTTTATGTTCACTCCTGATAACTGAGAAACAGAACTAAAGTTTTCCTTAC
ATTGCTAAATGGATAAACCTCATATTCAATAAACTAGTAAATGTAGCCACTTGACTGATTGCGTAAATCGTGTTAAAACATTCTAAAATGTTGTAACTAATTTAATGTGAATACTGTTAAACAGAAAA
TAATTGCTTATAAAAGTCTAACTTCACCCAGTTACCAAGTCTTGGCCAAATTTTATCTTCTGCCTATAGTTTTTACTAGCCTTTTTAAACTATAATAGTGAGTGATCATTACTTTATATTCTCGTAAG
TTAGAAATACTTGAATGCCAAATTAATTTTGTTTTAAGAAAGCTTATTTTTAACATAATTTTTTAGTGTGGAGGGTTTGTAAATAATGTAAAGTTTGTAAACCTGTATTTAAAATACCAAAGTTTTTC
TTCTTTTATAACATTGTAAGATACTAGAAAAATGGGCTTCAAGTTTTTTAATAGCTTTCACAGTTTGTGTAGTTTTTTTTTTCTATTTGGTTAAGATGTGAGTTGGAAATGTATTATTTGAAACATTT
AAACTAATTTTTGTATTTAACAGCAGTCTCAGACATTTGTCTTTTCAACTCAGTTGAGTTGTAGATATCAAATAGAAATGTCCAGTTTTGCCTCTTTTAAGTACTGTCCAGTTGAAACCTCCTGACTC
ATGTACTACTACACAAACTAGAAAATGCCCATTTATTTTTGTTGATTCAACACTCCAGATACAGATTGATACATATATACTAATCATTTTATTTCATGTAAAAGTTTTACATCTAGGGTGCCTATTTA
TTTTTATAGATGCTTTCATCCAGTTATAAGCTTATTATAACTTTGTAAATATTTCAGCCAACAGTTGTAATGTTTAAAATACTTACCTTCAGAATGTTATATTTTCATGTGAAATCAATTTCTTCTAA
TTCAAAAAAATTTTAAGATAAACTGATTTTTAAGTTTA

hide sequence

RefSeq Acc Id:

NM_001389663 ⟹ NP_001376592

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	119,212,713 - 119,295,518 (+)	NCBI
T2T-CHM13v2.0	4	122,517,784 - 122,600,620 (+)	NCBI

Sequence:

show sequence

AGTTCCCGGTGAGCCTCGGTACTGTGGCAGCAGTCAGTGTGTCTGGCGGGTGTCGGCGTGAAGC
GGGGCTGGGCCAGCGGGAGGTAGCTCTGTGGGAGTGGAAGGCCTGTATTTCTCTACCTGGACCGCACGCTCCTCGCGCAAGGAGGGTAGAGCTCAAGTTCCGTGATGATGGTCTAAGCAAAGACCCTT
CGTCCTGTTAAAGATAAATTAAAAAAAAAAAAAAAAAACCAAAGGGAACAAAACTTACTCTGCAAAAGTAATATATGATTTACCTGCTGTTGTCATAAGAATTCCAAATAGACAAACTCGGTATGCTT
GGGATTTGCTTTACATTCTAAGTGGATTTGGAGAAGAGACAATAAAGAATAAGCAGTCAATTCTATAATATATTTAGAAGGAGAAAAGTGCCAAGGAGGAATGAAAAAGTAGAACAAGGTTTTATGGC
AATTGGATATATTCCGACGAAGCTTGCGGGTTTTGACTGGACATGTTTGTCAGGGAGATGCCTGTATATTTTGTGCATTGAAGACGATATTTGCACAGTTCCAACACAGTCGAGAAAAAGCACTTCCC
TCAGATAACATAAGGCATGCTCTTGCAGAAAGTTTCAAAGATGAGCAGCGATTTCAACTTGGCCTTATGGATGATGCTGCGGAGTGCTTTGAAAATATGTTGGAGAGGATTCATTTTCACATAGTGCC
AAGCAGAGATGCAGACATGTGTACCTCTAAATCTTGTATCACTCACCAGAAGTTTGCTATGACTCTGTATGAACAGTGTGTGTGTCGTAGCTGTGGAGCATCGTCAGATCCTCTACCTTTTACAGAAT
TTGTGCGGTACATTTCTACAACAGCCTTATGCAATGAGGTTGAAAGAATGTTGGAAAGGCATGAACGCTTTAAACCTGAAATGTTTGCAGAATTGCTACAAGCAGCAAATACAACAGATGACTATAGG
AAATGTCCTAGTAACTGTGGCCAAAAAATAAAAATTCGCCGTGTTTTAATGAATTGCCCAGAGATTGTTACAATTGGTTTAGTCTGGGACTCCGAGCATTCTGACTTGACCGAAGCTGTTGTTCGGAA
TCTAGCAACACATCTTTATCTTCCTGGGCTTTTTTATAGAGTTACTGATGAAAATGCCAAAAATAGTGAACTTAACCTTGTTGGTATGATCTGCTACACCAGCCAACATTATTGTGCCTTTGCATTTC
ACACCAAAAGTTCCAAATGGGTATTTTTTGATGATGCAAATGTGAAAGAGATTGGAACTAGATGGAAAGATGTTGTCTCCAAATGCATTCGATGCCACTTTCAGCCACTACTTTTGTTTTATGCAAAC
CCAGATGGCACAGCAGTTTCTACTGAGGATGCACTCAGGCAGGTCATCAGCTGGTCACATTACAAATCTGTTGCAGAAAATATGGGATGTGAAAAGCCTGTAATTCATAAGTCAGATAATTTAAAAGA
AAATGGATTTGGTGATCAGGCAAAGCAGAGAGAAAATCAGAAATTTCCAACTGATAATATTTCATCATCTAATCGGAGCCACAGTCACACAGGTGTAGGGAAAGGACCAGCTAAGTTAAGTCACATTG
ATCAAAGGGAAAAGATAAAAGACATTTCCAGAGAATGTGCTCTGAAAGCTATTGAACAGAAAAACTTACTTTCTTCACAAAGGAAAGATTTAGAGAAGGGACAAAGAAAAGATTTAGGACGACATAGA
GATTTGGTTGATGAAGACCTTTCACATTTCCAATCTGGATCACCTCCTGCCCCAAATGGTTTTAAACAACATGGGAATCCACATCTATATCATAGTCAAGGAAAAGGATCATATAAACATGACCGAGT
TGTACCTCAGAGTCGAGCTTCTGCACAAATAATAAGTTCAAGTAAATCCCAGATTCTTGCTCCAGGAGAGAAAATAACTGGCAAAGTTAAGAGTGACAATGGCACTGGATATGACACAGACAGCAGCC
AAGATTCTAGGGATAGAGGAAACAGCTGTGATAGCAGCAGTAAAAGCCGGAACCGAGGTTGGAAACCTATGAGAGAAACATTAAATGTTGATAGTATTTTTAGTGAAAGTGAAAAAAGACAGCATAGT
CCAAGACATAAACCAAATATCAGTAATAAGCCTAAATCTAGCAAGGATCCGAGTTTTAGTAATTGGCCAAAAGAGAATCCAAAGCAAAAAGGTTTAATGACCATATATGAAGATGAAATGAAGCAGGA
AATAGGAAGCAGAAGTTCCCTTGAATCTAATGGAAAAGGAGCAGAGAAAAATAAAGGCCTTGTAGAGGGTAAAGTGCATGGTGATAATTGGCAGATGCAAAGGACTGAGTCTGGATATGAAAGCAGTG
ATCACATCAGTAATGGTTCTACTAATTTGGACTCACCTGTTATCGATGGAAATGGTACAGTAATGGATATCAGTGGTGTTAAAGAAACAGTATGCTTCAGTGACCAGATTACGACAAGCAACCTAAAT
AAAGAACGTGGGGACTGTACCTCCCTTCAGAGCCAACATCACTTAGAAGGCTTTAGAAAAGAACTCAGGAATTTGGAAGCAGGCTATAAATCTCATGAATTCCACCCAGAATCACATTTACAAATAAA
AAATCATTTGATAAAAAGATCACATGTACATGAAGACAATGGAAAGTTATTTCCTTCATCCAGTCTACAAATACCCAAGGACCATAATGCAAGAGAACATATCCACCAGTCAGATGAACAGAAACTTG
AAAAACCGAATGAATGCAAATTTTCTGAGTGGCTTAATATAGAAAATTCTGAGAGAACAGGTTTGCCTTTTCACGTTGATAACTCTGCTTCTGGGAAGAGAGTGAACAGTAATGAACCATCTTCATTA
TGGTCTTCACACCTAAGAACTGTTGGGTTAAAGCCAGAAACTGCTCCTCTCATCCAGCAACAAAATATCATGGATCAATGTTACTTTGAGAACTCTCTATCCACAGAATGTATAATTCGGTCAGCCAG
CAGATCTGATGGGTGTCAGATGCCAAAACTTTTTTGCCAGAATCTACCACCCCCTTTGCCACCAAAGAAATATGCTATAACCAGTGTGCCACAGTCAGAGAAAAGCGAATCTACACCTGATGTCAAAC
TTACAGAGGTGTTTAAAGCTACCTCTCATCTTCCGAAGCACAGTTTAAGTACAGCTTCAGAACCAAGTTTAGAAGTGAGTACACATATGAATGATGAAAGACATAAAGAAACATTTCAAGTGAGAGAA
TGTTTTGGCAACACACCAAACTGTCCATCCAGCTCCTCAACTAACGATTTTCAGGCAAACTCAGGTGCCATTGATGCATTTTGCCAACCAGAACTAGACTCTATTTCTACCTGTCCAAATGAGACAGT
TTCATTAACTACCTATTTTTCAGTTGATAGCTGCATGACGGATACATATAGATTGAAATACCATCAGAGGCCCAAGCTCTCTTTTCCAGAGAGCAGTGGCTTTTGTAATAATTCACTATCTTAGAGTG
AAAAAGGACTAGACCTGTGTTACATAATAATCTTGGTTCAAGCTGCCCTTCTGAACAAAGATATAAACCTAGCATACATTGTAATAGATAACTGGTAAAACTGACCAACTTTTACTTCTCAGAGGCCA
TTTAAATATAATAGGAACCTACTGACCAAACCTAGTGATACATAAAATTAAAGCCTGTGGCATTTTTAAAGTTGTTAATCACTATACATATGTATGTGTATATGTGTATACACATATATAATTTTATG
ATCAATATCTTAGATATTTTAGAAATTCCCTTTGAATAGTCTTGGCGTGCCGTGAAAAATAGAAAATCAGGGAGATATAATAATTCATTTGTCATATGCTACAGTTGAATAAAAATTAAATTTGTCCC
CCTATTTTGTGGCCAGTAGACTGGGAAGTATTAAACTAACCAGTACTCATGTATGGAGATTATAAACTATGCTAATTGAAAAGTACCAGGTGATACATAGCCTGGTACTTTTTTGTCAAAGAATTGCT
TTATGAAGAAGCACTTTCTAATGGGTAACCAGAAAAGGGCTTCACCCATTTGTTTTTGACTTCTATGATAGTCACTGCATATGATCCCTTTAAGTGTCTTTAAAAAAAATGACTTATGAATTTGATAG
CATTTGGGGAAAAAAAGCCTTATATGATTAACAATTTGTAAGTTTTCAAGATCGGATGGAATTTAATTTTGCTCCTAGAATTTTTGTCTTCAGAATATCTAGTTAAGATAAATTAGGCCTTTGACTAT
TATAGGTATTCATAAATGCTACTTTAGCCATGTAAGTTAAAAAGTTAAAATACTTAAACTTTAGTGTATTTATTTATCTCGTTACTTTTTTTCTAATTTTATATGAAATGTGAAAGGTCTTTATTTTG
GTTTGGTTTACTTTGGGCTGCTAACCACCAGTGTTAGGAATTAATGTAGGGCACCCTCTTATTGGGAATGTCACTGTAATTGCCTACATTTTCTTTGCTGTAATATTACCTGCTTATAGGTTGTCAAC
CCATTTTATCTGAATTTGAAAATCTATCTAGGTTTCCAGATTAAATTTCTACCTTTCATATAGAGAGTTTAATTTTAATAAAATGTTTAATTAGAGCATCCTTCCCTTTTATTCTACTTTGAACAAAT
AGTAATTTTACCCCAACTACTTTTCATGAAGAGTGCTTTGAAAATTAAAGGAATTTTTATTATTATGGTAACCTTATGAGTAAAAATAAGTTACTTTAATTGCTTTATTTCGTTAGTTGTCATTTTAT
TTTGTACTATGCTGGTAAACTAATTGTGGTTTAGAATAGTTTTATGTTCACTCCTGATAACTGAGAAACAGAACTAAAGTTTTCCTTACATTGCTAAATGGATAAACCTCATATTCAATAAACTAGTA
AATGTAGCCACTTGACTGATTGCGTAAATCGTGTTAAAACATTCTAAAATGTTGTAACTAATTTAATGTGAATACTGTTAAACAGAAAATAATTGCTTATAAAAGTCTAACTTCACCCAGTTACCAAG
TCTTGGCCAAATTTTATCTTCTGCCTATAGTTTTTACTAGCCTTTTTAAACTATAATAGTGAGTGATCATTACTTTATATTCTCGTAAGTTAGAAATACTTGAATGCCAAATTAATTTTGTTTTAAGA
AAGCTTATTTTTAACATAATTTTTTAGTGTGGAGGGTTTGTAAATAATGTAAAGTTTGTAAACCTGTATTTAAAATACCAAAGTTTTTCTTCTTTTATAACATTGTAAGATACTAGAAAAATGGGCTT
CAAGTTTTTTAATAGCTTTCACAGTTTGTGTAGTTTTTTTTTTCTATTTGGTTAAGATGTGAGTTGGAAATGTATTATTTGAAACATTTAAACTAATTTTTGTATTTAACAGCAGTCTCAGACATTTG
TCTTTTCAACTCAGTTGAGTTGTAGATATCAAATAGAAATGTCCAGTTTTGCCTCTTTTAAGTACTGTCCAGTTGAAACCTCCTGACTCATGTACTACTACACAAACTAGAAAATGCCCATTTATTTT
TGTTGATTCAACACTCCAGATACAGATTGATACATATATACTAATCATTTTATTTCATGTAAAAGTTTTACATCTAGGGTGCCTATTTATTTTTATAGATGCTTTCATCCAGTTATAAGCTTATTATA
ACTTTGTAAATATTTCAGCCAACAGTTGTAATGTTTAAAATACTTACCTTCAGAATGTTATATTTTCATGTGAAATCAATTTCTTCTAATTCAAAAAAATTTTAAGATAAACTGATTTTTAAGTTTA

hide sequence

RefSeq Acc Id:

NM_001389664 ⟹ NP_001376593

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	119,212,713 - 119,295,518 (+)	NCBI
T2T-CHM13v2.0	4	122,517,784 - 122,600,620 (+)	NCBI

Sequence:

show sequence

AGTTCCCGGTGAGCCTCGGTACTGTGGCAGCAGTCAGTGTGTCTGGCGGGTGTCGGCGTGAAGCGGGGCTGGGCCAGCGGGAGGTAGCTCTGTGGGAGTGGAAGGCCTGTATTTCTCTACCTGGACCG
CACGCTCCTCGCGCAAGGAGGGTAGAGCTCAAGATGCTTGGGATTTGCTTTACATTCTAAGTGGATTTGGAGAAGAGACAATAAAGAATAAGCAGTCAATTCTATAATATATTTAGAAGGAGAAAAGT
GCCAAGGAGGAATGAAAAAGTAGAACAAGAGACAGCATCTTGCTGCCACCCAGGCTGGAGTGCAGTGGTGCAGTCTTAGCTTACTGCAGCCTCAAACTTCTGGGCTCAAGTAATCCTCCCGCCTCAGC
TTCCTGAGTAGCTGAGATTACAGGTTTTATGGCAATTGGATATATTCCGACGAAGCTTGCGGGTTTTGACTGGACATGTTTGTCAGGGAGATGCCTGTATATTTTGTGCATTGAAGACGATATTTGCA
CAGTTCCAACACAGTCGAGAAAAAGCACTTCCCTCAGATAACATAAGGCATGCTCTTGCAGAAAGTTTCAAAGATGAGCAGCGATTTCAACTTGGCCTTATGGATGATGCTGCGGAGTGCTTTGAAAA
TATGTTGGAGAGGATTCATTTTCACATAGTGCCAAGCAGAGATGCAGACATGTGTACCTCTAAATCTTGTATCACTCACCAGAAGTTTGCTATGACTCTGTATGAACAGTGTGTGTGTCGTAGCTGTG
GAGCATCGTCAGATCCTCTACCTTTTACAGAATTTGTGCGGTACATTTCTACAACAGCCTTATGCAATGAGGTTGAAAGAATGTTGGAAAGGCATGAACGCTTTAAACCTGAAATGTTTGCAGAATTG
CTACAAGCAGCAAATACAACAGATGACTATAGGAAATGTCCTAGTAACTGTGGCCAAAAAATAAAAATTCGCCGTGTTTTAATGAATTGCCCAGAGATTGTTACAATTGGTTTAGTCTGGGACTCCGA
GCATTCTGACTTGACCGAAGCTGTTGTTCGGAATCTAGCAACACATCTTTATCTTCCTGGGCTTTTTTATAGAGTTACTGATGAAAATGCCAAAAATAGTGAACTTAACCTTGTTGGTATGATCTGCT
ACACCAGCCAACATTATTGTGCCTTTGCATTTCACACCAAAAGTTCCAAATGGGTATTTTTTGATGATGCAAATGTGAAAGAGATTGGAACTAGATGGAAAGATGTTGTCTCCAAATGCATTCGATGC
CACTTTCAGCCACTACTTTTGTTTTATGCAAACCCAGATGGCACAGCAGTTTCTACTGAGGATGCACTCAGGCAGGTCATCAGCTGGTCACATTACAAATCTGTTGCAGAAAATATGGGATGTGAAAA
GCCTGTAATTCATAAGTCAGATAATTTAAAAGAAAATGGATTTGGTGATCAGGCAAAGCAGAGAGAAAATCAGAAATTTCCAACTGATAATATTTCATCATCTAATCGGAGCCACAGTCACACAGGTG
TAGGGAAAGGACCAGCTAAGTTAAGTCACATTGATCAAAGGGAAAAGATAAAAGACATTTCCAGAGAATGTGCTCTGAAAGCTATTGAACAGAAAAACTTACTTTCTTCACAAAGGAAAGATTTAGAG
AAGGGACAAAGAAAAGATTTAGGACGACATAGAGATTTGGTTGATGAAGACCTTTCACATTTCCAATCTGGATCACCTCCTGCCCCAAATGGTTTTAAACAACATGGGAATCCACATCTATATCATAG
TCAAGGAAAAGGATCATATAAACATGACCGAGTTGTACCTCAGAGTCGAGCTTCTGCACAAATAATAAGTTCAAGTAAATCCCAGATTCTTGCTCCAGGAGAGAAAATAACTGGCAAAGTTAAGAGTG
ACAATGGCACTGGATATGACACAGACAGCAGCCAAGATTCTAGGGATAGAGGAAACAGCTGTGATAGCAGCAGTAAAAGCCGGAACCGAGGTTGGAAACCTATGAGAGAAACATTAAATGTTGATAGT
ATTTTTAGTGAAAGTGAAAAAAGACAGCATAGTCCAAGACATAAACCAAATATCAGTAATAAGCCTAAATCTAGCAAGGATCCGAGTTTTAGTAATTGGCCAAAAGAGAATCCAAAGCAAAAAGGTTT
AATGACCATATATGAAGATGAAATGAAGCAGGAAATAGGAAGCAGAAGTTCCCTTGAATCTAATGGAAAAGGAGCAGAGAAAAATAAAGGCCTTGTAGAGGGTAAAGTGCATGGTGATAATTGGCAGA
TGCAAAGGACTGAGTCTGGATATGAAAGCAGTGATCACATCAGTAATGGTTCTACTAATTTGGACTCACCTGTTATCGATGGAAATGGTACAGTAATGGATATCAGTGGTGTTAAAGAAACAGTATGC
TTCAGTGACCAGATTACGACAAGCAACCTAAATAAAGAACGTGGGGACTGTACCTCCCTTCAGAGCCAACATCACTTAGAAGGCTTTAGAAAAGAACTCAGGAATTTGGAAGCAGGCTATAAATCTCA
TGAATTCCACCCAGAATCACATTTACAAATAAAAAATCATTTGATAAAAAGATCACATGTACATGAAGACAATGGAAAGTTATTTCCTTCATCCAGTCTACAAATACCCAAGGACCATAATGCAAGAG
AACATATCCACCAGTCAGATGAACAGAAACTTGAAAAACCGAATGAATGCAAATTTTCTGAGTGGCTTAATATAGAAAATTCTGAGAGAACAGGTTTGCCTTTTCACGTTGATAACTCTGCTTCTGGG
AAGAGAGTGAACAGTAATGAACCATCTTCATTATGGTCTTCACACCTAAGAACTGTTGGGTTAAAGCCAGAAACTGCTCCTCTCATCCAGCAACAAAATATCATGGATCAATGTTACTTTGAGAACTC
TCTATCCACAGAATGTATAATTCGGTCAGCCAGCAGATCTGATGGGTGTCAGATGCCAAAACTTTTTTGCCAGAATCTACCACCCCCTTTGCCACCAAAGAAATATGCTATAACCAGTGTGCCACAGT
CAGAGAAAAGCGAATCTACACCTGATGTCAAACTTACAGAGGTGTTTAAAGCTACCTCTCATCTTCCGAAGCACAGTTTAAGTACAGCTTCAGAACCAAGTTTAGAAGTGAGTACACATATGAATGAT
GAAAGACATAAAGAAACATTTCAAGTGAGAGAATGTTTTGGCAACACACCAAACTGTCCATCCAGCTCCTCAACTAACGATTTTCAGGCAAACTCAGGTGCCATTGATGCATTTTGCCAACCAGAACT
AGACTCTATTTCTACCTGTCCAAATGAGACAGTTTCATTAACTACCTATTTTTCAGTTGATAGCTGCATGACGGATACATATAGATTGAAATACCATCAGAGGCCCAAGCTCTCTTTTCCAGAGAGCA
GTGGCTTTTGTAATAATTCACTATCTTAGAGTGAAAAAGGACTAGACCTGTGTTACATAATAATCTTGGTTCAAGCTGCCCTTCTGAACAAAGATATAAACCTAGCATACATTGTAATAGATAACTGG
TAAAACTGACCAACTTTTACTTCTCAGAGGCCATTTAAATATAATAGGAACCTACTGACCAAACCTAGTGATACATAAAATTAAAGCCTGTGGCATTTTTAAAGTTGTTAATCACTATACATATGTAT
GTGTATATGTGTATACACATATATAATTTTATGATCAATATCTTAGATATTTTAGAAATTCCCTTTGAATAGTCTTGGCGTGCCGTGAAAAATAGAAAATCAGGGAGATATAATAATTCATTTGTCAT
ATGCTACAGTTGAATAAAAATTAAATTTGTCCCCCTATTTTGTGGCCAGTAGACTGGGAAGTATTAAACTAACCAGTACTCATGTATGGAGATTATAAACTATGCTAATTGAAAAGTACCAGGTGATA
CATAGCCTGGTACTTTTTTGTCAAAGAATTGCTTTATGAAGAAGCACTTTCTAATGGGTAACCAGAAAAGGGCTTCACCCATTTGTTTTTGACTTCTATGATAGTCACTGCATATGATCCCTTTAAGT
GTCTTTAAAAAAAATGACTTATGAATTTGATAGCATTTGGGGAAAAAAAGCCTTATATGATTAACAATTTGTAAGTTTTCAAGATCGGATGGAATTTAATTTTGCTCCTAGAATTTTTGTCTTCAGAA
TATCTAGTTAAGATAAATTAGGCCTTTGACTATTATAGGTATTCATAAATGCTACTTTAGCCATGTAAGTTAAAAAGTTAAAATACTTAAACTTTAGTGTATTTATTTATCTCGTTACTTTTTTTCTA
ATTTTATATGAAATGTGAAAGGTCTTTATTTTGGTTTGGTTTACTTTGGGCTGCTAACCACCAGTGTTAGGAATTAATGTAGGGCACCCTCTTATTGGGAATGTCACTGTAATTGCCTACATTTTCTT
TGCTGTAATATTACCTGCTTATAGGTTGTCAACCCATTTTATCTGAATTTGAAAATCTATCTAGGTTTCCAGATTAAATTTCTACCTTTCATATAGAGAGTTTAATTTTAATAAAATGTTTAATTAGA
GCATCCTTCCCTTTTATTCTACTTTGAACAAATAGTAATTTTACCCCAACTACTTTTCATGAAGAGTGCTTTGAAAATTAAAGGAATTTTTATTATTATGGTAACCTTATGAGTAAAAATAAGTTACT
TTAATTGCTTTATTTCGTTAGTTGTCATTTTATTTTGTACTATGCTGGTAAACTAATTGTGGTTTAGAATAGTTTTATGTTCACTCCTGATAACTGAGAAACAGAACTAAAGTTTTCCTTACATTGCT
AAATGGATAAACCTCATATTCAATAAACTAGTAAATGTAGCCACTTGACTGATTGCGTAAATCGTGTTAAAACATTCTAAAATGTTGTAACTAATTTAATGTGAATACTGTTAAACAGAAAATAATTG
CTTATAAAAGTCTAACTTCACCCAGTTACCAAGTCTTGGCCAAATTTTATCTTCTGCCTATAGTTTTTACTAGCCTTTTTAAACTATAATAGTGAGTGATCATTACTTTATATTCTCGTAAGTTAGAA
ATACTTGAATGCCAAATTAATTTTGTTTTAAGAAAGCTTATTTTTAACATAATTTTTTAGTGTGGAGGGTTTGTAAATAATGTAAAGTTTGTAAACCTGTATTTAAAATACCAAAGTTTTTCTTCTTT
TATAACATTGTAAGATACTAGAAAAATGGGCTTCAAGTTTTTTAATAGCTTTCACAGTTTGTGTAGTTTTTTTTTTCTATTTGGTTAAGATGTGAGTTGGAAATGTATTATTTGAAACATTTAAACTA
ATTTTTGTATTTAACAGCAGTCTCAGACATTTGTCTTTTCAACTCAGTTGAGTTGTAGATATCAAATAGAAATGTCCAGTTTTGCCTCTTTTAAGTACTGTCCAGTTGAAACCTCCTGACTCATGTAC
TACTACACAAACTAGAAAATGCCCATTTATTTTTGTTGATTCAACACTCCAGATACAGATTGATACATATATACTAATCATTTTATTTCATGTAAAAGTTTTACATCTAGGGTGCCTATTTATTTTTA
TAGATGCTTTCATCCAGTTATAAGCTTATTATAACTTTGTAAATATTTCAGCCAACAGTTGTAATGTTTAAAATACTTACCTTCAGAATGTTATATTTTCATGTGAAATCAATTTCTTCTAATTCAAA
AAAATTTTAAGATAAACTGATTTTTAAGTTTA

hide sequence

RefSeq Acc Id:

NM_001389665 ⟹ NP_001376594

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	119,212,713 - 119,295,518 (+)	NCBI
T2T-CHM13v2.0	4	122,517,784 - 122,600,620 (+)	NCBI

Sequence:

show sequence

AGTTCCCGGTGAGCCTCGGTACTGTGGCAGCAGTCAGTGTGTCTGGCGGGTGTCGGCGTGAAGC
GGGGCTGGGCCAGCGGGAGGTAGCTCTGTGGGAGTGGAAGGCCTGTATTTCTCTACCTGGACCGCACGCTCCTCGCGCAAGGAGGGTAGAGCTCAAGATGCTTGGGATTTGCTTTACATTCTAAGTGG
ATTTGGAGAAGAGACAATAAAGAATAAGCAGTCAATTCTATAATATATTTAGAAGGAGAAAAGTGCCAAGGAGGAATGAAAAAGTAGAACAAGGTTTTATGGCAATTGGATATATTCCGACGAAGCTT
GCGGGTTTTGACTGGACATGTTTGTCAGGGAGATGCCTGTATATTTTGTGCATTGAAGACGATATTTGCACAGTTCCAACACAGTCGAGAAAAAGCACTTCCCTCAGATAACATAAGGCATGCTCTTG
CAGAAAGTTTCAAAGATGAGCAGCGATTTCAACTTGGCCTTATGGATGATGCTGCGGAGTGCTTTGAAAATATGTTGGAGAGGATTCATTTTCACATAGTGCCAAGCAGAGATGCAGACATGTGTACC
TCTAAATCTTGTATCACTCACCAGAAGTTTGCTATGACTCTGTATGAACAGTGTGTGTGTCGTAGCTGTGGAGCATCGTCAGATCCTCTACCTTTTACAGAATTTGTGCGGTACATTTCTACAACAGC
CTTATGCAATGAGGTTGAAAGAATGTTGGAAAGGCATGAACGCTTTAAACCTGAAATGTTTGCAGAATTGCTACAAGCAGCAAATACAACAGATGACTATAGGAAATGTCCTAGTAACTGTGGCCAAA
AAATAAAAATTCGCCGTGTTTTAATGAATTGCCCAGAGATTGTTACAATTGGTTTAGTCTGGGACTCCGAGCATTCTGACTTGACCGAAGCTGTTGTTCGGAATCTAGCAACACATCTTTATCTTCCT
GGGCTTTTTTATAGAGTTACTGATGAAAATGCCAAAAATAGTGAACTTAACCTTGTTGGTATGATCTGCTACACCAGCCAACATTATTGTGCCTTTGCATTTCACACCAAAAGTTCCAAATGGGTATT
TTTTGATGATGCAAATGTGAAAGAGATTGGAACTAGATGGAAAGATGTTGTCTCCAAATGCATTCGATGCCACTTTCAGCCACTACTTTTGTTTTATGCAAACCCAGATGGCACAGCAGTTTCTACTG
AGGATGCACTCAGGCAGGTCATCAGCTGGTCACATTACAAATCTGTTGCAGAAAATATGGCTAAGTTAAGTCACATTGATCAAAGGGAAAAGATAAAAGACATTTCCAGAGAATGTGCTCTGAAAGCT
ATTGAACAGAAAAACTTACTTTCTTCACAAAGGAAAGATTTAGAGAAGGGACAAAGAAAAGATTTAGGACGACATAGAGATTTGGTTGATGAAGACCTTTCACATTTCCAATCTGGATCACCTCCTGC
CCCAAATGGTTTTAAACAACATGGGAATCCACATCTATATCATAGTCAAGGAAAAGGATCATATAAACATGACCGAGTTGTACCTCAGAGTCGAGCTTCTGCACAAATAATAAGTTCAAGTAAATCCC
AGATTCTTGCTCCAGGAGAGAAAATAACTGGCAAAGTTAAGAGTGACAATGGCACTGGATATGACACAGACAGCAGCCAAGATTCTAGGGATAGAGGAAACAGCTGTGATAGCAGCAGTAAAAGCCGG
AACCGAGGTTGGAAACCTATGAGAGAAACATTAAATGTTGATAGTATTTTTAGTGAAAGTGAAAAAAGACAGCATAGTCCAAGACATAAACCAAATATCAGTAATAAGCCTAAATCTAGCAAGGATCC
GAGTTTTAGTAATTGGCCAAAAGAGAATCCAAAGCAAAAAGGTTTAATGACCATATATGAAGATGAAATGAAGCAGGAAATAGGAAGCAGAAGTTCCCTTGAATCTAATGGAAAAGGAGCAGAGAAAA
ATAAAGGCCTTGTAGAGGGTAAAGTGCATGGTGATAATTGGCAGATGCAAAGGACTGAGTCTGGATATGAAAGCAGTGATCACATCAGTAATGGTTCTACTAATTTGGACTCACCTGTTATCGATGGA
AATGGTACAGTAATGGATATCAGTGGTGTTAAAGAAACAGTATGCTTCAGTGACCAGATTACGACAAGCAACCTAAATAAAGAACGTGGGGACTGTACCTCCCTTCAGAGCCAACATCACTTAGAAGG
CTTTAGAAAAGAACTCAGGAATTTGGAAGCAGGCTATAAATCTCATGAATTCCACCCAGAATCACATTTACAAATAAAAAATCATTTGATAAAAAGATCACATGTACATGAAGACAATGGAAAGTTAT
TTCCTTCATCCAGTCTACAAATACCCAAGGACCATAATGCAAGAGAACATATCCACCAGTCAGATGAACAGAAACTTGAAAAACCGAATGAATGCAAATTTTCTGAGTGGCTTAATATAGAAAATTCT
GAGAGAACAGGTTTGCCTTTTCACGTTGATAACTCTGCTTCTGGGAAGAGAGTGAACAGTAATGAACCATCTTCATTATGGTCTTCACACCTAAGAACTGTTGGGTTAAAGCCAGAAACTGCTCCTCT
CATCCAGCAACAAAATATCATGGATCAATGTTACTTTGAGAACTCTCTATCCACAGAATGTATAATTCGGTCAGCCAGCAGATCTGATGGGTGTCAGATGCCAAAACTTTTTTGCCAGAATCTACCAC
CCCCTTTGCCACCAAAGAAATATGCTATAACCAGTGTGCCACAGTCAGAGAAAAGCGAATCTACACCTGATGTCAAACTTACAGAGGTGTTTAAAGCTACCTCTCATCTTCCGAAGCACAGTTTAAGT
ACAGCTTCAGAACCAAGTTTAGAAGTGAGTACACATATGAATGATGAAAGACATAAAGAAACATTTCAAGTGAGAGAATGTTTTGGCAACACACCAAACTGTCCATCCAGCTCCTCAACTAACGATTT
TCAGGCAAACTCAGGTGCCATTGATGCATTTTGCCAACCAGAACTAGACTCTATTTCTACCTGTCCAAATGAGACAGTTTCATTAACTACCTATTTTTCAGTTGATAGCTGCATGACGGATACATATA
GATTGAAATACCATCAGAGGCCCAAGCTCTCTTTTCCAGAGAGCAGTGGCTTTTGTAATAATTCACTATCTTAGAGTGAAAAAGGACTAGACCTGTGTTACATAATAATCTTGGTTCAAGCTGCCCTT
CTGAACAAAGATATAAACCTAGCATACATTGTAATAGATAACTGGTAAAACTGACCAACTTTTACTTCTCAGAGGCCATTTAAATATAATAGGAACCTACTGACCAAACCTAGTGATACATAAAATTA
AAGCCTGTGGCATTTTTAAAGTTGTTAATCACTATACATATGTATGTGTATATGTGTATACACATATATAATTTTATGATCAATATCTTAGATATTTTAGAAATTCCCTTTGAATAGTCTTGGCGTGC
CGTGAAAAATAGAAAATCAGGGAGATATAATAATTCATTTGTCATATGCTACAGTTGAATAAAAATTAAATTTGTCCCCCTATTTTGTGGCCAGTAGACTGGGAAGTATTAAACTAACCAGTACTCAT
GTATGGAGATTATAAACTATGCTAATTGAAAAGTACCAGGTGATACATAGCCTGGTACTTTTTTGTCAAAGAATTGCTTTATGAAGAAGCACTTTCTAATGGGTAACCAGAAAAGGGCTTCACCCATT
TGTTTTTGACTTCTATGATAGTCACTGCATATGATCCCTTTAAGTGTCTTTAAAAAAAATGACTTATGAATTTGATAGCATTTGGGGAAAAAAAGCCTTATATGATTAACAATTTGTAAGTTTTCAAG
ATCGGATGGAATTTAATTTTGCTCCTAGAATTTTTGTCTTCAGAATATCTAGTTAAGATAAATTAGGCCTTTGACTATTATAGGTATTCATAAATGCTACTTTAGCCATGTAAGTTAAAAAGTTAAAA
TACTTAAACTTTAGTGTATTTATTTATCTCGTTACTTTTTTTCTAATTTTATATGAAATGTGAAAGGTCTTTATTTTGGTTTGGTTTACTTTGGGCTGCTAACCACCAGTGTTAGGAATTAATGTAGG
GCACCCTCTTATTGGGAATGTCACTGTAATTGCCTACATTTTCTTTGCTGTAATATTACCTGCTTATAGGTTGTCAACCCATTTTATCTGAATTTGAAAATCTATCTAGGTTTCCAGATTAAATTTCT
ACCTTTCATATAGAGAGTTTAATTTTAATAAAATGTTTAATTAGAGCATCCTTCCCTTTTATTCTACTTTGAACAAATAGTAATTTTACCCCAACTACTTTTCATGAAGAGTGCTTTGAAAATTAAAG
GAATTTTTATTATTATGGTAACCTTATGAGTAAAAATAAGTTACTTTAATTGCTTTATTTCGTTAGTTGTCATTTTATTTTGTACTATGCTGGTAAACTAATTGTGGTTTAGAATAGTTTTATGTTCA
CTCCTGATAACTGAGAAACAGAACTAAAGTTTTCCTTACATTGCTAAATGGATAAACCTCATATTCAATAAACTAGTAAATGTAGCCACTTGACTGATTGCGTAAATCGTGTTAAAACATTCTAAAAT
GTTGTAACTAATTTAATGTGAATACTGTTAAACAGAAAATAATTGCTTATAAAAGTCTAACTTCACCCAGTTACCAAGTCTTGGCCAAATTTTATCTTCTGCCTATAGTTTTTACTAGCCTTTTTAAA
CTATAATAGTGAGTGATCATTACTTTATATTCTCGTAAGTTAGAAATACTTGAATGCCAAATTAATTTTGTTTTAAGAAAGCTTATTTTTAACATAATTTTTTAGTGTGGAGGGTTTGTAAATAATGT
AAAGTTTGTAAACCTGTATTTAAAATACCAAAGTTTTTCTTCTTTTATAACATTGTAAGATACTAGAAAAATGGGCTTCAAGTTTTTTAATAGCTTTCACAGTTTGTGTAGTTTTTTTTTTCTATTTG
GTTAAGATGTGAGTTGGAAATGTATTATTTGAAACATTTAAACTAATTTTTGTATTTAACAGCAGTCTCAGACATTTGTCTTTTCAACTCAGTTGAGTTGTAGATATCAAATAGAAATGTCCAGTTTT
GCCTCTTTTAAGTACTGTCCAGTTGAAACCTCCTGACTCATGTACTACTACACAAACTAGAAAATGCCCATTTATTTTTGTTGATTCAACACTCCAGATACAGATTGATACATATATACTAATCATTT
TATTTCATGTAAAAGTTTTACATCTAGGGTGCCTATTTATTTTTATAGATGCTTTCATCCAGTTATAAGCTTATTATAACTTTGTAAATATTTCAGCCAACAGTTGTAATGTTTAAAATACTTACCTT
CAGAATGTTATATTTTCATGTGAAATCAATTTCTTCTAATTCAAAAAAATTTTAAGATAAACTGATTTTTAAGTTTA

hide sequence

RefSeq Acc Id:

NM_001389666 ⟹ NP_001376595

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	119,212,713 - 119,295,518 (+)	NCBI
T2T-CHM13v2.0	4	122,517,784 - 122,600,620 (+)	NCBI

Sequence:

show sequence

AGTTCCCGGTGAGCCTCGGTACTGTGGCAGCAGTCAGTGTGTCTGGCGGGTGTCGGCGTGAAGCGGGGCTGGGCCAGCGGGAGGTAGCTCTGTGGGAGTGGAAGGCCTGTATTTCTCTACCTGGACCG
CACGCTCCTCGCGCAAGGAGGGTAGAGCTCAAGATGCTTGGGATTTGCTTTACATTCTAAGTGGATTTGGAGAAGAGACAATAAAGAATAAGCAGTCAATTCTATAATATATTTAGAAGGAGAAAAGT
GCCAAGGAGGAATGAAAAAGTAGAACAAGGTTTTATGGCAATTGGATATATTCCGACGAAGCTTGCGGGTTTTGACTGGACATGTTTGTCAGGGAGATGCCTGTATATTTTGTGCATTGAAGACGATA
TTTGCACAGTTCCAACACAGTCGAGAAAAAGCACTTCCCTCAGATAACATAAGGCATGCTCTTGCAGAAAGTTTCAAAGATGAGCAGCGATTTCAACTTGGCCTTATGGATGATGCTGCGGAGTGCTT
TGAAAATATGTTGGAGAGGATTCATTTTCACATAGTGCCAAGCAGAGATGCAGACATGTGTACCTCTAAATCTTGTATCACTCACCAGAAGTTTGCTATGACTCTGTATGAACAGTGTGTGTGTCGTA
GCTGTGGAGCATCGTCAGATCCTCTACCTTTTACAGAATTTGTGCGGTACATTTCTACAACAGCCTTATGCAATGAGGTTGAAAGAATGTTGGAAAGGCATGAACGCTTTAAACCTGAAATGTTTGCA
GAATTGCTACAAGCAGCAAATACAACAGATGACTATAGGAAATGTCCTAGTAACTGTGGCCAAAAAATAAAAATTCGCCGTGTTTTAATGAATTGCCCAGAGATTGTTACAATTGGTTTAGTCTGGGA
CTCCGAGCATTCTGACTTGACCGAAGCTGTTGTTCGGAATCTAGCAACACATCTTTATCTTCCTGGGCTTTTTTATAGAGTTACTGATGAAAATGCCAAAAATAGTGAACTTAACCTTGTTGGTATGA
TCTGCTACACCAGCCAACATTATTGTGCCTTTGCATTTCACACCAAAAGTTCCAAATGGGTATTTTTTGATGATGCAAATGTGAAAGAGATTGGAACTAGATGGAAAGATGTTGTCTCCAAATGCATT
CGATGCCACTTTCAGCCACTACTTTTGTTTTATGCAAACCCAGATGGCACAGCAGTTTCTACTGAGGATGCACTCAGGCAGGTCATCAGCTGGTCACATTACAAATCTGTTGCAGAAAATATGGGATG
TGAAAAGCCTGTAATTCATAAGTCAGATAATTTAAAAGAAAATGGATTTGGTGATCAGGCAAAGCAGAGAGAAAATCAGAAATTTCCAACTGATAATATTTCATCATCTAATCGGAGCCACAGTCACA
CAGGTGTAGGGAAAGGACCAGCTAAGTTAAGTCACATTGATCAAAGGGAAAAGATAAAAGACATTTCCAGAGAATGTGCTCTGAAAGCTATTGAACAGAAAAACTTACTTTCTTCACAAAGGAAAGAT
TTAGAGAAGGGACAAAGAAAAGATTTAGGACGACATAGAGATTTGGTTGATGAAGACCTTTCACATTTCCAATCTGGATCACCTCCTGCCCCAAATGGTTTTAAACAACATGGGAATCCACATCTATA
TCATAGTCAAGGAAAAGGATCATATAAACATGACCGAGTTGTACCTCAGAGTCGAGCTTCTGCACAAATAATAAGTTCAAGTAAATCCCAGATTCTTGCTCCAGGAGAGAAAATAACTGGCAAAGTTA
AGAGTGACAATGGCACTGGATATGACACAGACAGCAGCCAAGATTCTAGGGATAGAGGAAACAGCTGTGATAGCAGCAGTAAAAGCCGGAACCGAGGTTGGAAACCTATGAGAGAAACATTAAATGTT
GATAGTATTTTTAGTGAAAGTGAAAAAAGACAGCATAGTCCAAGACATAAACCAAATATCAGTAATAAGCCTAAATCTAGCAAGGATCCGAGTTTTAGTAATTGGCCAAAAGAGAATCCAAAGCAAAA
AGGTTTAATGACCATATATGAAGATGAAATGAAGCAGGAAATAGGAAGCAGAAGTTCCCTTGAATCTAATGGAAAAGGAGCAGAGAAAAATAAAGGCCTTGTAGAGGGTAAAGTGCATGGTGATAATT
GGCAGATGCAAAGGACTGAGTCTGGATATGAAAGCAGTGATCACATCAGTAATGGTTCTACTAATTTGGACTCACCTGTTATCGATGGAAATGGTACAGTAATGGATATCAGTGGTGTTAAAGAAACA
GTATGCTTCAGTGACCAGATTACGACAAGCAACCTAAATAAAGAACGTGGGGACTGTACCTCCCTTCAGAGCCAACATCACTTAGAAGATCACATGTACATGAAGACAATGGAAAGTTATTTCCTTCA
TCCAGTCTACAAATACCCAAGGACCATAATGCAAGAGAACATATCCACCAGTCAGATGAACAGAAACTTGAAAAACCGAATGAATGCAAATTTTCTGAGTGGCTTAATATAGAAAATTCTGAGAGAAC
AGGTTTGCCTTTTCACGTTGATAACTCTGCTTCTGGGAAGAGAGTGAACAGTAATGAACCATCTTCATTATGGTCTTCACACCTAAGAACTGTTGGGTTAAAGCCAGAAACTGCTCCTCTCATCCAGC
AACAAAATATCATGGATCAATGTTACTTTGAGAACTCTCTATCCACAGAATGTATAATTCGGTCAGCCAGCAGATCTGATGGGTGTCAGATGCCAAAACTTTTTTGCCAGAATCTACCACCCCCTTTG
CCACCAAAGAAATATGCTATAACCAGTGTGCCACAGTCAGAGAAAAGCGAATCTACACCTGATGTCAAACTTACAGAGGTGTTTAAAGCTACCTCTCATCTTCCGAAGCACAGTTTAAGTACAGCTTC
AGAACCAAGTTTAGAAGTGAGTACACATATGAATGATGAAAGACATAAAGAAACATTTCAAGTGAGAGAATGTTTTGGCAACACACCAAACTGTCCATCCAGCTCCTCAACTAACGATTTTCAGGCAA
ACTCAGGTGCCATTGATGCATTTTGCCAACCAGAACTAGACTCTATTTCTACCTGTCCAAATGAGACAGTTTCATTAACTACCTATTTTTCAGTTGATAGCTGCATGACGGATACATATAGATTGAAA
TACCATCAGAGGCCCAAGCTCTCTTTTCCAGAGAGCAGTGGCTTTTGTAATAATTCACTATCTTAGAGTGAAAAAGGACTAGACCTGTGTTACATAATAATCTTGGTTCAAGCTGCCCTTCTGAACAA
AGATATAAACCTAGCATACATTGTAATAGATAACTGGTAAAACTGACCAACTTTTACTTCTCAGAGGCCATTTAAATATAATAGGAACCTACTGACCAAACCTAGTGATACATAAAATTAAAGCCTGT
GGCATTTTTAAAGTTGTTAATCACTATACATATGTATGTGTATATGTGTATACACATATATAATTTTATGATCAATATCTTAGATATTTTAGAAATTCCCTTTGAATAGTCTTGGCGTGCCGTGAAAA
ATAGAAAATCAGGGAGATATAATAATTCATTTGTCATATGCTACAGTTGAATAAAAATTAAATTTGTCCCCCTATTTTGTGGCCAGTAGACTGGGAAGTATTAAACTAACCAGTACTCATGTATGGAG
ATTATAAACTATGCTAATTGAAAAGTACCAGGTGATACATAGCCTGGTACTTTTTTGTCAAAGAATTGCTTTATGAAGAAGCACTTTCTAATGGGTAACCAGAAAAGGGCTTCACCCATTTGTTTTTG
ACTTCTATGATAGTCACTGCATATGATCCCTTTAAGTGTCTTTAAAAAAAATGACTTATGAATTTGATAGCATTTGGGGAAAAAAAGCCTTATATGATTAACAATTTGTAAGTTTTCAAGATCGGATG
GAATTTAATTTTGCTCCTAGAATTTTTGTCTTCAGAATATCTAGTTAAGATAAATTAGGCCTTTGACTATTATAGGTATTCATAAATGCTACTTTAGCCATGTAAGTTAAAAAGTTAAAATACTTAAA
CTTTAGTGTATTTATTTATCTCGTTACTTTTTTTCTAATTTTATATGAAATGTGAAAGGTCTTTATTTTGGTTTGGTTTACTTTGGGCTGCTAACCACCAGTGTTAGGAATTAATGTAGGGCACCCTC
TTATTGGGAATGTCACTGTAATTGCCTACATTTTCTTTGCTGTAATATTACCTGCTTATAGGTTGTCAACCCATTTTATCTGAATTTGAAAATCTATCTAGGTTTCCAGATTAAATTTCTACCTTTCA
TATAGAGAGTTTAATTTTAATAAAATGTTTAATTAGAGCATCCTTCCCTTTTATTCTACTTTGAACAAATAGTAATTTTACCCCAACTACTTTTCATGAAGAGTGCTTTGAAAATTAAAGGAATTTTT
ATTATTATGGTAACCTTATGAGTAAAAATAAGTTACTTTAATTGCTTTATTTCGTTAGTTGTCATTTTATTTTGTACTATGCTGGTAAACTAATTGTGGTTTAGAATAGTTTTATGTTCACTCCTGAT
AACTGAGAAACAGAACTAAAGTTTTCCTTACATTGCTAAATGGATAAACCTCATATTCAATAAACTAGTAAATGTAGCCACTTGACTGATTGCGTAAATCGTGTTAAAACATTCTAAAATGTTGTAAC
TAATTTAATGTGAATACTGTTAAACAGAAAATAATTGCTTATAAAAGTCTAACTTCACCCAGTTACCAAGTCTTGGCCAAATTTTATCTTCTGCCTATAGTTTTTACTAGCCTTTTTAAACTATAATA
GTGAGTGATCATTACTTTATATTCTCGTAAGTTAGAAATACTTGAATGCCAAATTAATTTTGTTTTAAGAAAGCTTATTTTTAACATAATTTTTTAGTGTGGAGGGTTTGTAAATAATGTAAAGTTTG
TAAACCTGTATTTAAAATACCAAAGTTTTTCTTCTTTTATAACATTGTAAGATACTAGAAAAATGGGCTTCAAGTTTTTTAATAGCTTTCACAGTTTGTGTAGTTTTTTTTTTCTATTTGGTTAAGAT
GTGAGTTGGAAATGTATTATTTGAAACATTTAAACTAATTTTTGTATTTAACAGCAGTCTCAGACATTTGTCTTTTCAACTCAGTTGAGTTGTAGATATCAAATAGAAATGTCCAGTTTTGCCTCTTT
TAAGTACTGTCCAGTTGAAACCTCCTGACTCATGTACTACTACACAAACTAGAAAATGCCCATTTATTTTTGTTGATTCAACACTCCAGATACAGATTGATACATATATACTAATCATTTTATTTCAT
GTAAAAGTTTTACATCTAGGGTGCCTATTTATTTTTATAGATGCTTTCATCCAGTTATAAGCTTATTATAACTTTGTAAATATTTCAGCCAACAGTTGTAATGTTTAAAATACTTACCTTCAGAATGT
TATATTTTCATGTGAAATCAATTTCTTCTAATTCAAAAAAATTTTAAGATAAACTGATTTTTAAGTTTA

hide sequence

RefSeq Acc Id:

NM_001389667 ⟹ NP_001376596

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	119,212,713 - 119,295,518 (+)	NCBI
T2T-CHM13v2.0	4	122,517,784 - 122,600,620 (+)	NCBI

Sequence:

show sequence

AGTTCCCGGTGAGCCTCGGTACTGTGGCAGCAGTCAGTGTGTCTGGCGGGTGTCGGCGTGAAGCGGGGCTGGGCCAGCGGGAGGTAGCTCTGTGGGAGTGGAAGGCCTGTATTTCTCTACCTGGACCG
CACGCTCCTCGCGCAAGGAGGGTAGAGCTCAAGTTCCGTGATGATGGTCTAAGCAAAGACCCTTCGTCCTGTTAAAGATAAATTAAAAAAAAAAAAAAAAAACCAAAGGGAACAAAACTTACTCTGCA
AAAGTAATATATGATTTACCTGCTGTTGTCATAAGAATTCCAAATAGACAAACTCGGTATGCTTGGGATTTGCTTTACATTCTAAGTGGATTTGGAGAAGAGACAATAAAGAATAAGCAGTCAATTCT
ATAATATATTTAGAAGGAGAAAAGTGCCAAGGAGGAATGAAAAAGTAGAACAAGGTTTTATGGCAATTGGATATATTCCGACGAAGCTTGCGGGTTTTGACTGGACATGTTTGTCAGGGAGATGCCTG
TATATTTTGTGCATTGAAGACGATATTTGCACAGTTCCAACACAGTCGAGAAAAAGCACTTCCCTCAGATAACATAAGGCATGCTCTTGCAGAAAGTTTCAAAGATGAGCAGCGATTTCAACTTGGCC
TTATGGATGATGCTGCGGAGTGCTTTGAAAATATGTTGGAGAGGATTCATTTTCACATAGTGCCAAGCAGAGATGCAGACATGTGTACCTCTAAATCTTGTATCACTCACCAGAAGTTTGCTATGACT
CTGTATGAACAGTGTGTGTGTCGTAGCTGTGGAGCATCGTCAGATCCTCTACCTTTTACAGAATTTGTGCGGTACATTTCTACAACAGCCTTATGCAATGAGGTTGAAAGAATGTTGGAAAGGCATGA
ACGCTTTAAACCTGAAATGTTTGCAGAATTGCTACAAGCAGCAAATACAACAGATGACTATAGGAAATGTCCTAGTAACTGTGGCCAAAAAATAAAAATTCGCCGTGTTTTAATGAATTGCCCAGAGA
TTGTTACAATTGGTTTAGTCTGGGACTCCGAGCATTCTGACTTGACCGAAGCTGTTGTTCGGAATCTAGCAACACATCTTTATCTTCCTGGGCTTTTTTATAGAGTTACTGATGAAAATGCCAAAAAT
AGTGAACTTAACCTTGTTGGTATGATCTGCTACACCAGCCAACATTATTGTGCCTTTGCATTTCACACCAAAAGTTCCAAATGGGTATTTTTTGATGATGCAAATGTGAAAGAGATTGGAACTAGATG
GAAAGATGTTGTCTCCAAATGCATTCGATGCCACTTTCAGCCACTACTTTTGTTTTATGCAAACCCAGATGGCACAGCAGTTTCTACTGAGGATGCACTCAGGCAGGTCATCAGCTGGTCACATTACA
AATCTGTTGCAGAAAATATGGCTAAGTTAAGTCACATTGATCAAAGGGAAAAGATAAAAGACATTTCCAGAGAATGTGCTCTGAAAGCTATTGAACAGAAAAACTTACTTTCTTCACAAAGGAAAGAT
TTAGAGAAGGGACAAAGAAAAGATTTAGGACGACATAGAGATTTGGTTGATGAAGACCTTTCACATTTCCAATCTGGATCACCTCCTGCCCCAAATGGTTTTAAACAACATGGGAATCCACATCTATA
TCATAGTCAAGGAAAAGGATCATATAAACATGACCGAGTTGTACCTCAGAGTCGAGCTTCTGCACAAATAATAAGTTCAAGTAAATCCCAGATTCTTGCTCCAGGAGAGAAAATAACTGGCAAAGTTA
AGAGTGACAATGGCACTGGATATGACACAGACAGCAGCCAAGATTCTAGGGATAGAGGAAACAGCTGTGATAGCAGCAGTAAAAGCCGGAACCGAGGTTGGAAACCTATGAGAGAAACATTAAATGTT
GATAGTATTTTTAGTGAAAGTGAAAAAAGACAGCATAGTCCAAGACATAAACCAAATATCAGTAATAAGCCTAAATCTAGCAAGGATCCGAGTTTTAGTAATTGGCCAAAAGAGAATCCAAAGCAAAA
AGGTTTAATGACCATATATGAAGATGAAATGAAGCAGGAAATAGGAAGCAGAAGTTCCCTTGAATCTAATGGAAAAGGAGCAGAGAAAAATAAAGGCCTTGTAGAGGGTAAAGTGCATGGTGATAATT
GGCAGATGCAAAGGACTGAGTCTGGATATGAAAGCAGTGATCACATCAGTAATGGTTCTACTAATTTGGACTCACCTGTTATCGATGGAAATGGTACAGTAATGGATATCAGTGGTGTTAAAGAAACA
GTATGCTTCAGTGACCAGATTACGACAAGCAACCTAAATAAAGAACGTGGGGACTGTACCTCCCTTCAGAGCCAACATCACTTAGAAGATCACATGTACATGAAGACAATGGAAAGTTATTTCCTTCA
TCCAGTCTACAAATACCCAAGGACCATAATGCAAGAGAACATATCCACCAGTCAGATGAACAGAAACTTGAAAAACCGAATGAATGCAAATTTTCTGAGTGGCTTAATATAGAAAATTCTGAGAGAAC
AGGTTTGCCTTTTCACGTTGATAACTCTGCTTCTGGGAAGAGAGTGAACAGTAATGAACCATCTTCATTATGGTCTTCACACCTAAGAACTGTTGGGTTAAAGCCAGAAACTGCTCCTCTCATCCAGC
AACAAAATATCATGGATCAATGTTACTTTGAGAACTCTCTATCCACAGAATGTATAATTCGGTCAGCCAGCAGATCTGATGGGTGTCAGATGCCAAAACTTTTTTGCCAGAATCTACCACCCCCTTTG
CCACCAAAGAAATATGCTATAACCAGTGTGCCACAGTCAGAGAAAAGCGAATCTACACCTGATGTCAAACTTACAGAGGTGTTTAAAGCTACCTCTCATCTTCCGAAGCACAGTTTAAGTACAGCTTC
AGAACCAAGTTTAGAAGTGAGTACACATATGAATGATGAAAGACATAAAGAAACATTTCAAGTGAGAGAATGTTTTGGCAACACACCAAACTGTCCATCCAGCTCCTCAACTAACGATTTTCAGGCAA
ACTCAGGTGCCATTGATGCATTTTGCCAACCAGAACTAGACTCTATTTCTACCTGTCCAAATGAGACAGTTTCATTAACTACCTATTTTTCAGTTGATAGCTGCATGACGGATACATATAGATTGAAA
TACCATCAGAGGCCCAAGCTCTCTTTTCCAGAGAGCAGTGGCTTTTGTAATAATTCACTATCTTAGAGTGAAAAAGGACTAGACCTGTGTTACATAATAATCTTGGTTCAAGCTGCCCTTCTGAACAA
AGATATAAACCTAGCATACATTGTAATAGATAACTGGTAAAACTGACCAACTTTTACTTCTCAGAGGCCATTTAAATATAATAGGAACCTACTGACCAAACCTAGTGATACATAAAATTAAAGCCTGT
GGCATTTTTAAAGTTGTTAATCACTATACATATGTATGTGTATATGTGTATACACATATATAATTTTATGATCAATATCTTAGATATTTTAGAAATTCCCTTTGAATAGTCTTGGCGTGCCGTGAAAA
ATAGAAAATCAGGGAGATATAATAATTCATTTGTCATATGCTACAGTTGAATAAAAATTAAATTTGTCCCCCTATTTTGTGGCCAGTAGACTGGGAAGTATTAAACTAACCAGTACTCATGTATGGAG
ATTATAAACTATGCTAATTGAAAAGTACCAGGTGATACATAGCCTGGTACTTTTTTGTCAAAGAATTGCTTTATGAAGAAGCACTTTCTAATGGGTAACCAGAAAAGGGCTTCACCCATTTGTTTTTG
ACTTCTATGATAGTCACTGCATATGATCCCTTTAAGTGTCTTTAAAAAAAATGACTTATGAATTTGATAGCATTTGGGGAAAAAAAGCCTTATATGATTAACAATTTGTAAGTTTTCAAGATCGGATG
GAATTTAATTTTGCTCCTAGAATTTTTGTCTTCAGAATATCTAGTTAAGATAAATTAGGCCTTTGACTATTATAGGTATTCATAAATGCTACTTTAGCCATGTAAGTTAAAAAGTTAAAATACTTAAA
CTTTAGTGTATTTATTTATCTCGTTACTTTTTTTCTAATTTTATATGAAATGTGAAAGGTCTTTATTTTGGTTTGGTTTACTTTGGGCTGCTAACCACCAGTGTTAGGAATTAATGTAGGGCACCCTC
TTATTGGGAATGTCACTGTAATTGCCTACATTTTCTTTGCTGTAATATTACCTGCTTATAGGTTGTCAACCCATTTTATCTGAATTTGAAAATCTATCTAGGTTTCCAGATTAAATTTCTACCTTTCA
TATAGAGAGTTTAATTTTAATAAAATGTTTAATTAGAGCATCCTTCCCTTTTATTCTACTTTGAACAAATAGTAATTTTACCCCAACTACTTTTCATGAAGAGTGCTTTGAAAATTAAAGGAATTTTT
ATTATTATGGTAACCTTATGAGTAAAAATAAGTTACTTTAATTGCTTTATTTCGTTAGTTGTCATTTTATTTTGTACTATGCTGGTAAACTAATTGTGGTTTAGAATAGTTTTATGTTCACTCCTGAT
AACTGAGAAACAGAACTAAAGTTTTCCTTACATTGCTAAATGGATAAACCTCATATTCAATAAACTAGTAAATGTAGCCACTTGACTGATTGCGTAAATCGTGTTAAAACATTCTAAAATGTTGTAAC
TAATTTAATGTGAATACTGTTAAACAGAAAATAATTGCTTATAAAAGTCTAACTTCACCCAGTTACCAAGTCTTGGCCAAATTTTATCTTCTGCCTATAGTTTTTACTAGCCTTTTTAAACTATAATA
GTGAGTGATCATTACTTTATATTCTCGTAAGTTAGAAATACTTGAATGCCAAATTAATTTTGTTTTAAGAAAGCTTATTTTTAACATAATTTTTTAGTGTGGAGGGTTTGTAAATAATGTAAAGTTTG
TAAACCTGTATTTAAAATACCAAAGTTTTTCTTCTTTTATAACATTGTAAGATACTAGAAAAATGGGCTTCAAGTTTTTTAATAGCTTTCACAGTTTGTGTAGTTTTTTTTTTCTATTTGGTTAAGAT
GTGAGTTGGAAATGTATTATTTGAAACATTTAAACTAATTTTTGTATTTAACAGCAGTCTCAGACATTTGTCTTTTCAACTCAGTTGAGTTGTAGATATCAAATAGAAATGTCCAGTTTTGCCTCTTT
TAAGTACTGTCCAGTTGAAACCTCCTGACTCATGTACTACTACACAAACTAGAAAATGCCCATTTATTTTTGTTGATTCAACACTCCAGATACAGATTGATACATATATACTAATCATTTTATTTCAT
GTAAAAGTTTTACATCTAGGGTGCCTATTTATTTTTATAGATGCTTTCATCCAGTTATAAGCTTATTATAACTTTGTAAATATTTCAGCCAACAGTTGTAATGTTTAAAATACTTACCTTCAGAATGT
TATATTTTCATGTGAAATCAATTTCTTCTAATTCAAAAAAATTTTAAGATAAACTGATTTTTAAGTTTA

hide sequence

RefSeq Acc Id:

NM_019050 ⟹ NP_061923

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	119,212,713 - 119,295,518 (+)	NCBI
GRCh37	4	120,133,775 - 120,216,673 (+)	NCBI
Build 36	4	120,353,230 - 120,436,121 (+)	NCBI Archive
Celera	4	117,495,374 - 117,578,263 (+)	RGD
HuRef	4	115,855,506 - 115,938,506 (+)	RGD
CHM1_1	4	120,110,269 - 120,193,235 (+)	NCBI
T2T-CHM13v2.0	4	122,517,784 - 122,600,620 (+)	NCBI

Sequence:

show sequence

AGTTCCCGGTGAGCCTCGGTACTGTGGCAGCAGTCAGTGTGTCTGGCGGGTGTCGGCGTGAAGCGGGGCTGGGCCAGCGGGAGGTAGCTCTGTGGGAGTGGAAGGCCTGTATTTCTCTACCTGGACCG
CACGCTCCTCGCGCAAGGAGGGTAGAGCTCAAGTTCCGTGATGATGGTCTAAGCAAAGACCCTTCGTCCTGTTAAAGATAAATTAAAAAAAAAAAAAAAAAACCAAAGGGAACAAAACTTACTCTGCA
AAAGTAATATATGATTTACCTGCTGTTGTCATAAGAATTCCAAATAGACAAACTCGGTATGCTTGGGATTTGCTTTACATTCTAAGTGGATTTGGAGAAGAGACAATAAAGAATAAGCAGTCAATTCT
ATAATATATTTAGAAGGAGAAAAGTGCCAAGGAGGAATGAAAAAGTAGAACAAGATTTGCTTTGAGGTCACATTGATATGAAATATGGAGTCACCTTTTATAACTTCACCTGGGAAAGAGAGAGAAAA
CTTTCTTGTTAAAAAAACATAAGGAAAACAAACAACCAAAGGAATCATGCCAAATGCCAACTCTACATCTTTTTGTATTATTAACATATTTTATGCATCAAGACAAATGGCTTATGCATTAAAGGGGA
TGATTCGTTCATCAGTATTTTTAGCCATTAAAAAAAATCGTTTTCATATTAACCTTATACAGCTCCCATAAAATTTAACACATATAAACATCTTTAACGCCTTGTTTAAAATAGCTTTCTTTTTTAGT
GCTTAGAACTTCAATGTTTATGCACCCTATTGTTACTTGTCAGAGTCTTTAAGAGTTTATAACATCAGGAAAGATATGGACTTGGAAACTTACATTATTAAAATAGACTGCAGTGGATTTAATTGGAC
AATTCAAGACATCCATTTTATTGTCCAAAATATTACATAAAAGTGTACAGTTTTTAGCCTAAATGCAAACAAAGTTGCTTGAAAATGGCATGGGTAAAATTCTTACGGAAACCTGGTGGCAATCTTGG
AAAAGTTTATCAGCCTGGAAGTATGCTATCACTAGCCCCTACCAAAGGCTTGTTAAATGAACCAGGACAAAACAGCTGCTTTCTTAATAGCGCTGTACAGGTTTTATGGCAATTGGATATATTCCGAC
GAAGCTTGCGGGTTTTGACTGGACATGTTTGTCAGGGAGATGCCTGTATATTTTGTGCATTGAAGACGATATTTGCACAGTTCCAACACAGTCGAGAAAAAGCACTTCCCTCAGATAACATAAGGCAT
GCTCTTGCAGAAAGTTTCAAAGATGAGCAGCGATTTCAACTTGGCCTTATGGATGATGCTGCGGAGTGCTTTGAAAATATGTTGGAGAGGATTCATTTTCACATAGTGCCAAGCAGAGATGCAGACAT
GTGTACCTCTAAATCTTGTATCACTCACCAGAAGTTTGCTATGACTCTGTATGAACAGTGTGTGTGTCGTAGCTGTGGAGCATCGTCAGATCCTCTACCTTTTACAGAATTTGTGCGGTACATTTCTA
CAACAGCCTTATGCAATGAGGTTGAAAGAATGTTGGAAAGGCATGAACGCTTTAAACCTGAAATGTTTGCAGAATTGCTACAAGCAGCAAATACAACAGATGACTATAGGAAATGTCCTAGTAACTGT
GGCCAAAAAATAAAAATTCGCCGTGTTTTAATGAATTGCCCAGAGATTGTTACAATTGGTTTAGTCTGGGACTCCGAGCATTCTGACTTGACCGAAGCTGTTGTTCGGAATCTAGCAACACATCTTTA
TCTTCCTGGGCTTTTTTATAGAGTTACTGATGAAAATGCCAAAAATAGTGAACTTAACCTTGTTGGTATGATCTGCTACACCAGCCAACATTATTGTGCCTTTGCATTTCACACCAAAAGTTCCAAAT
GGGTATTTTTTGATGATGCAAATGTGAAAGAGATTGGAACTAGATGGAAAGATGTTGTCTCCAAATGCATTCGATGCCACTTTCAGCCACTACTTTTGTTTTATGCAAACCCAGATGGCACAGCAGTT
TCTACTGAGGATGCACTCAGGCAGGTCATCAGCTGGTCACATTACAAATCTGTTGCAGAAAATATGGGATGTGAAAAGCCTGTAATTCATAAGTCAGATAATTTAAAAGAAAATGGATTTGGTGATCA
GGCAAAGCAGAGAGAAAATCAGAAATTTCCAACTGATAATATTTCATCATCTAATCGGAGCCACAGTCACACAGGTGTAGGGAAAGGACCAGCTAAGTTAAGTCACATTGATCAAAGGGAAAAGATAA
AAGACATTTCCAGAGAATGTGCTCTGAAAGCTATTGAACAGAAAAACTTACTTTCTTCACAAAGGAAAGATTTAGAGAAGGGACAAAGAAAAGATTTAGGACGACATAGAGATTTGGTTGATGAAGAC
CTTTCACATTTCCAATCTGGATCACCTCCTGCCCCAAATGGTTTTAAACAACATGGGAATCCACATCTATATCATAGTCAAGGAAAAGGATCATATAAACATGACCGAGTTGTACCTCAGAGTCGAGC
TTCTGCACAAATAATAAGTTCAAGTAAATCCCAGATTCTTGCTCCAGGAGAGAAAATAACTGGCAAAGTTAAGAGTGACAATGGCACTGGATATGACACAGACAGCAGCCAAGATTCTAGGGATAGAG
GAAACAGCTGTGATAGCAGCAGTAAAAGCCGGAACCGAGGTTGGAAACCTATGAGAGAAACATTAAATGTTGATAGTATTTTTAGTGAAAGTGAAAAAAGACAGCATAGTCCAAGACATAAACCAAAT
ATCAGTAATAAGCCTAAATCTAGCAAGGATCCGAGTTTTAGTAATTGGCCAAAAGAGAATCCAAAGCAAAAAGGTTTAATGACCATATATGAAGATGAAATGAAGCAGGAAATAGGAAGCAGAAGTTC
CCTTGAATCTAATGGAAAAGGAGCAGAGAAAAATAAAGGCCTTGTAGAGGGTAAAGTGCATGGTGATAATTGGCAGATGCAAAGGACTGAGTCTGGATATGAAAGCAGTGATCACATCAGTAATGGTT
CTACTAATTTGGACTCACCTGTTATCGATGGAAATGGTACAGTAATGGATATCAGTGGTGTTAAAGAAACAGTATGCTTCAGTGACCAGATTACGACAAGCAACCTAAATAAAGAACGTGGGGACTGT
ACCTCCCTTCAGAGCCAACATCACTTAGAAGGCTTTAGAAAAGAACTCAGGAATTTGGAAGCAGGCTATAAATCTCATGAATTCCACCCAGAATCACATTTACAAATAAAAAATCATTTGATAAAAAG
ATCACATGTACATGAAGACAATGGAAAGTTATTTCCTTCATCCAGTCTACAAATACCCAAGGACCATAATGCAAGAGAACATATCCACCAGTCAGATGAACAGAAACTTGAAAAACCGAATGAATGCA
AATTTTCTGAGTGGCTTAATATAGAAAATTCTGAGAGAACAGGTTTGCCTTTTCACGTTGATAACTCTGCTTCTGGGAAGAGAGTGAACAGTAATGAACCATCTTCATTATGGTCTTCACACCTAAGA
ACTGTTGGGTTAAAGCCAGAAACTGCTCCTCTCATCCAGCAACAAAATATCATGGATCAATGTTACTTTGAGAACTCTCTATCCACAGAATGTATAATTCGGTCAGCCAGCAGATCTGATGGGTGTCA
GATGCCAAAACTTTTTTGCCAGAATCTACCACCCCCTTTGCCACCAAAGAAATATGCTATAACCAGTGTGCCACAGTCAGAGAAAAGCGAATCTACACCTGATGTCAAACTTACAGAGGTGTTTAAAG
CTACCTCTCATCTTCCGAAGCACAGTTTAAGTACAGCTTCAGAACCAAGTTTAGAAGTGAGTACACATATGAATGATGAAAGACATAAAGAAACATTTCAAGTGAGAGAATGTTTTGGCAACACACCA
AACTGTCCATCCAGCTCCTCAACTAACGATTTTCAGGCAAACTCAGGTGCCATTGATGCATTTTGCCAACCAGAACTAGACTCTATTTCTACCTGTCCAAATGAGACAGTTTCATTAACTACCTATTT
TTCAGTTGATAGCTGCATGACGGATACATATAGATTGAAATACCATCAGAGGCCCAAGCTCTCTTTTCCAGAGAGCAGTGGCTTTTGTAATAATTCACTATCTTAGAGTGAAAAAGGACTAGACCTGT
GTTACATAATAATCTTGGTTCAAGCTGCCCTTCTGAACAAAGATATAAACCTAGCATACATTGTAATAGATAACTGGTAAAACTGACCAACTTTTACTTCTCAGAGGCCATTTAAATATAATAGGAAC
CTACTGACCAAACCTAGTGATACATAAAATTAAAGCCTGTGGCATTTTTAAAGTTGTTAATCACTATACATATGTATGTGTATATGTGTATACACATATATAATTTTATGATCAATATCTTAGATATT
TTAGAAATTCCCTTTGAATAGTCTTGGCGTGCCGTGAAAAATAGAAAATCAGGGAGATATAATAATTCATTTGTCATATGCTACAGTTGAATAAAAATTAAATTTGTCCCCCTATTTTGTGGCCAGTA
GACTGGGAAGTATTAAACTAACCAGTACTCATGTATGGAGATTATAAACTATGCTAATTGAAAAGTACCAGGTGATACATAGCCTGGTACTTTTTTGTCAAAGAATTGCTTTATGAAGAAGCACTTTC
TAATGGGTAACCAGAAAAGGGCTTCACCCATTTGTTTTTGACTTCTATGATAGTCACTGCATATGATCCCTTTAAGTGTCTTTAAAAAAAATGACTTATGAATTTGATAGCATTTGGGGAAAAAAAGC
CTTATATGATTAACAATTTGTAAGTTTTCAAGATCGGATGGAATTTAATTTTGCTCCTAGAATTTTTGTCTTCAGAATATCTAGTTAAGATAAATTAGGCCTTTGACTATTATAGGTATTCATAAATG
CTACTTTAGCCATGTAAGTTAAAAAGTTAAAATACTTAAACTTTAGTGTATTTATTTATCTCGTTACTTTTTTTCTAATTTTATATGAAATGTGAAAGGTCTTTATTTTGGTTTGGTTTACTTTGGGC
TGCTAACCACCAGTGTTAGGAATTAATGTAGGGCACCCTCTTATTGGGAATGTCACTGTAATTGCCTACATTTTCTTTGCTGTAATATTACCTGCTTATAGGTTGTCAACCCATTTTATCTGAATTTG
AAAATCTATCTAGGTTTCCAGATTAAATTTCTACCTTTCATATAGAGAGTTTAATTTTAATAAAATGTTTAATTAGAGCATCCTTCCCTTTTATTCTACTTTGAACAAATAGTAATTTTACCCCAACT
ACTTTTCATGAAGAGTGCTTTGAAAATTAAAGGAATTTTTATTATTATGGTAACCTTATGAGTAAAAATAAGTTACTTTAATTGCTTTATTTCGTTAGTTGTCATTTTATTTTGTACTATGCTGGTAA
ACTAATTGTGGTTTAGAATAGTTTTATGTTCACTCCTGATAACTGAGAAACAGAACTAAAGTTTTCCTTACATTGCTAAATGGATAAACCTCATATTCAATAAACTAGTAAATGTAGCCACTTGACTG
ATTGCGTAAATCGTGTTAAAACATTCTAAAATGTTGTAACTAATTTAATGTGAATACTGTTAAACAGAAAATAATTGCTTATAAAAGTCTAACTTCACCCAGTTACCAAGTCTTGGCCAAATTTTATC
TTCTGCCTATAGTTTTTACTAGCCTTTTTAAACTATAATAGTGAGTGATCATTACTTTATATTCTCGTAAGTTAGAAATACTTGAATGCCAAATTAATTTTGTTTTAAGAAAGCTTATTTTTAACATA
ATTTTTTAGTGTGGAGGGTTTGTAAATAATGTAAAGTTTGTAAACCTGTATTTAAAATACCAAAGTTTTTCTTCTTTTATAACATTGTAAGATACTAGAAAAATGGGCTTCAAGTTTTTTAATAGCTT
TCACAGTTTGTGTAGTTTTTTTTTTCTATTTGGTTAAGATGTGAGTTGGAAATGTATTATTTGAAACATTTAAACTAATTTTTGTATTTAACAGCAGTCTCAGACATTTGTCTTTTCAACTCAGTTGA
GTTGTAGATATCAAATAGAAATGTCCAGTTTTGCCTCTTTTAAGTACTGTCCAGTTGAAACCTCCTGACTCATGTACTACTACACAAACTAGAAAATGCCCATTTATTTTTGTTGATTCAACACTCCA
GATACAGATTGATACATATATACTAATCATTTTATTTCATGTAAAAGTTTTACATCTAGGGTGCCTATTTATTTTTATAGATGCTTTCATCCAGTTATAAGCTTATTATAACTTTGTAAATATTTCAG
CCAACAGTTGTAATGTTTAAAATACTTACCTTCAGAATGTTATATTTTCATGTGAAATCAATTTCTTCTAATTCAAAAAAATTTTAAGATAAACTGATTTTTAAGTTTA

hide sequence

RefSeq Acc Id:

XM_005263075 ⟹ XP_005263132

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	119,212,713 - 119,295,518 (+)	NCBI
GRCh37	4	120,133,775 - 120,216,673 (+)	NCBI

Sequence:

show sequence

GACTGGTCCCTGGGTATTGGGGCGTATGCGCATGCTCCGCTCACAGGGTCGGGCTCTGGGCGGCGGAGACCAGCCGCCTGTGCTCCAGTTCCCGGTGAGCCTCGGTACTGTGGCAGCAGTCAGTGTGT
CTGGCGGGTGTCGGCGTGAAGCGGGGCTGGGCCAGCGGGAGGTAGCTCTGTGGGAGTGGAAGGCCTGTATTTCTCTACCTGGACCGCACGCTCCTCGCGCAAGGAGGGTAGAGCTCAAGTTCCGTGAT
GATGGTCTAAGCAAAGACCCTTCGTCCTGTTAAAGATAAATTAAAAAAAAAAAAAAAAAACCAAAGGGAACAAAACTTACTCTGCAAAAGTAATATATGATTTACCTGCTGTTGTCATAAGAATTCCA
AATAGACAAACTCGGTATGCTTGGGATTTGCTTTACATTCTAAGTGGATTTGGAGAAGAGACAATAAAGAATAAGCAGTCAATTCTATAATATATTTAGAAGGAGAAAAGTGCCAAGGAGGAATGAAA
AAGTAGAACAAGATTTGCTTTGAGGTCACATTGATATGAAATATGGAGTCACCTTTTATAACTTCACCTGGGAAAGAGAGAGAAAACTTTCTTGTTAAAAAAACATAAGGAAAACAAACAACCAAAGG
AATCATGCCAAATGCCAACTCTACATCTTTTTGTATTATTAACATATTTTATGCATCAAGACAAATGGCTTATGCATTAAAGGGGATGATTCGTTCATCAGTATTTTTAGCCATTAAAAAAAATCGTT
TTCATATTAACCTTATACAGCTCCCATAAAATTTAACACATATAAACATCTTTAACGCCTTGTTTAAAATAGCTTTCTTTTTTAGTGCTTAGAACTTCAATGTTTATGCACCCTATTGTTACTTGTCA
GAGTCTTTAAGAGTTTATAACATCAGGAAAGATATGGACTTGGAAACTTACATTATTAAAATAGACTGCAGTGGATTTAATTGGACAATTCAAGACATCCATTTTATTGTCCAAAATATTACATAAAA
GTGTACAGTTTTTAGCCTAAATGCAAACAAAGTTGCTTGAAAATGGCATGGGTAAAATTCTTACGGAAACCTGGTGGCAATCTTGGAAAAGTTTATCAGCCTGGAAGTATGCTATCACTAGCCCCTAC
CAAAGGCTTGTTAAATGAACCAGGACAAAACAGCTGCTTTCTTAATAGCGCTGTACAGGTTTTATGGCAATTGGATATATTCCGACGAAGCTTGCGGGTTTTGACTGGACATGTTTGTCAGGGAGATG
CCTGTATATTTTGTGCATTGAAGACGATATTTGCACAGTTCCAACACAGTCGAGAAAAAGCACTTCCCTCAGATAACATAAGGCATGCTCTTGCAGAAAGTTTCAAAGATGAGCAGCGATTTCAACTT
GGCCTTATGGATGATGCTGCGGAGTGCTTTGAAAATATGTTGGAGAGGATTCATTTTCACATAGTGCCAAGCAGAGATGCAGACATGTGTACCTCTAAATCTTGTATCACTCACCAGAAGTTTGCTAT
GACTCTGTATGAACAGTGTGTGTGTCGTAGCTGTGGAGCATCGTCAGATCCTCTACCTTTTACAGAATTTGTGCGGTACATTTCTACAACAGCCTTATGCAATGAGGTTGAAAGAATGTTGGAAAGGC
ATGAACGCTTTAAACCTGAAATGTTTGCAGAATTGCTACAAGCAGCAAATACAACAGATGACTATAGGAAATGTCCTAGTAACTGTGGCCAAAAAATAAAAATTCGCCGTGTTTTAATGAATTGCCCA
GAGATTGTTACAATTGGTTTAGTCTGGGACTCCGAGCATTCTGACTTGACCGAAGCTGTTGTTCGGAATCTAGCAACACATCTTTATCTTCCTGGGATTGGAACTAGATGGAAAGATGTTGTCTCCAA
ATGCATTCGATGCCACTTTCAGCCACTACTTTTGTTTTATGCAAACCCAGATGGCACAGCAGTTTCTACTGAGGATGCACTCAGGCAGGTCATCAGCTGGTCACATTACAAATCTGTTGCAGAAAATA
TGGGATGTGAAAAGCCTGTAATTCATAAGTCAGATAATTTAAAAGAAAATGGATTTGGTGATCAGGCAAAGCAGAGAGAAAATCAGAAATTTCCAACTGATAATATTTCATCATCTAATCGGAGCCAC
AGTCACACAGGTGTAGGGAAAGGACCAGCTAAGTTAAGTCACATTGATCAAAGGGAAAAGATAAAAGACATTTCCAGAGAATGTGCTCTGAAAGCTATTGAACAGAAAAACTTACTTTCTTCACAAAG
GAAAGATTTAGAGAAGGGACAAAGAAAAGATTTAGGACGACATAGAGATTTGGTTGATGAAGACCTTTCACATTTCCAATCTGGATCACCTCCTGCCCCAAATGGTTTTAAACAACATGGGAATCCAC
ATCTATATCATAGTCAAGGAAAAGGATCATATAAACATGACCGAGTTGTACCTCAGAGTCGAGCTTCTGCACAAATAATAAGTTCAAGTAAATCCCAGATTCTTGCTCCAGGAGAGAAAATAACTGGC
AAAGTTAAGAGTGACAATGGCACTGGATATGACACAGACAGCAGCCAAGATTCTAGGGATAGAGGAAACAGCTGTGATAGCAGCAGTAAAAGCCGGAACCGAGGTTGGAAACCTATGAGAGAAACATT
AAATGTTGATAGTATTTTTAGTGAAAGTGAAAAAAGACAGCATAGTCCAAGACATAAACCAAATATCAGTAATAAGCCTAAATCTAGCAAGGATCCGAGTTTTAGTAATTGGCCAAAAGAGAATCCAA
AGCAAAAAGGTTTAATGACCATATATGAAGATGAAATGAAGCAGGAAATAGGAAGCAGAAGTTCCCTTGAATCTAATGGAAAAGGAGCAGAGAAAAATAAAGGCCTTGTAGAGGGTAAAGTGCATGGT
GATAATTGGCAGATGCAAAGGACTGAGTCTGGATATGAAAGCAGTGATCACATCAGTAATGGTTCTACTAATTTGGACTCACCTGTTATCGATGGAAATGGTACAGTAATGGATATCAGTGGTGTTAA
AGAAACAGTATGCTTCAGTGACCAGATTACGACAAGCAACCTAAATAAAGAACGTGGGGACTGTACCTCCCTTCAGAGCCAACATCACTTAGAAGGCTTTAGAAAAGAACTCAGGAATTTGGAAGCAG
GCTATAAATCTCATGAATTCCACCCAGAATCACATTTACAAATAAAAAATCATTTGATAAAAAGATCACATGTACATGAAGACAATGGAAAGTTATTTCCTTCATCCAGTCTACAAATACCCAAGGAC
CATAATGCAAGAGAACATATCCACCAGTCAGATGAACAGAAACTTGAAAAACCGAATGAATGCAAATTTTCTGAGTGGCTTAATATAGAAAATTCTGAGAGAACAGGTTTGCCTTTTCACGTTGATAA
CTCTGCTTCTGGGAAGAGAGTGAACAGTAATGAACCATCTTCATTATGGTCTTCACACCTAAGAACTGTTGGGTTAAAGCCAGAAACTGCTCCTCTCATCCAGCAACAAAATATCATGGATCAATGTT
ACTTTGAGAACTCTCTATCCACAGAATGTATAATTCGGTCAGCCAGCAGATCTGATGGGTGTCAGATGCCAAAACTTTTTTGCCAGAATCTACCACCCCCTTTGCCACCAAAGAAATATGCTATAACC
AGTGTGCCACAGTCAGAGAAAAGCGAATCTACACCTGATGTCAAACTTACAGAGGTGTTTAAAGCTACCTCTCATCTTCCGAAGCACAGTTTAAGTACAGCTTCAGAACCAAGTTTAGAAGTGAGTAC
ACATATGAATGATGAAAGACATAAAGAAACATTTCAAGTGAGAGAATGTTTTGGCAACACACCAAACTGTCCATCCAGCTCCTCAACTAACGATTTTCAGGCAAACTCAGGTGCCATTGATGCATTTT
GCCAACCAGAACTAGACTCTATTTCTACCTGTCCAAATGAGACAGTTTCATTAACTACCTATTTTTCAGTTGATAGCTGCATGACGGATACATATAGATTGAAATACCATCAGAGGCCCAAGCTCTCT
TTTCCAGAGAGCAGTGGCTTTTGTAATAATTCACTATCTTAGAGTGAAAAAGGACTAGACCTGTGTTACATAATAATCTTGGTTCAAGCTGCCCTTCTGAACAAAGATATAAACCTAGCATACATTGT
AATAGATAACTGGTAAAACTGACCAACTTTTACTTCTCAGAGGCCATTTAAATATAATAGGAACCTACTGACCAAACCTAGTGATACATAAAATTAAAGCCTGTGGCATTTTTAAAGTTGTTAATCAC
TATACATATGTATGTGTATATGTGTATACACATATATAATTTTATGATCAATATCTTAGATATTTTAGAAATTCCCTTTGAATAGTCTTGGCGTGCCGTGAAAAATAGAAAATCAGGGAGATATAATA
ATTCATTTGTCATATGCTACAGTTGAATAAAAATTAAATTTGTCCCCCTATTTTGTGGCCAGTAGACTGGGAAGTATTAAACTAACCAGTACTCATGTATGGAGATTATAAACTATGCTAATTGAAAA
GTACCAGGTGATACATAGCCTGGTACTTTTTTGTCAAAGAATTGCTTTATGAAGAAGCACTTTCTAATGGGTAACCAGAAAAGGGCTTCACCCATTTGTTTTTGACTTCTATGATAGTCACTGCATAT
GATCCCTTTAAGTGTCTTTAAAAAAAATGACTTATGAATTTGATAGCATTTGGGGAAAAAAAGCCTTATATGATTAACAATTTGTAAGTTTTCAAGATCGGATGGAATTTAATTTTGCTCCTAGAATT
TTTGTCTTCAGAATATCTAGTTAAGATAAATTAGGCCTTTGACTATTATAGGTATTCATAAATGCTACTTTAGCCATGTAAGTTAAAAAGTTAAAATACTTAAACTTTAGTGTATTTATTTATCTCGT
TACTTTTTTTCTAATTTTATATGAAATGTGAAAGGTCTTTATTTTGGTTTGGTTTACTTTGGGCTGCTAACCACCAGTGTTAGGAATTAATGTAGGGCACCCTCTTATTGGGAATGTCACTGTAATTG
CCTACATTTTCTTTGCTGTAATATTACCTGCTTATAGGTTGTCAACCCATTTTATCTGAATTTGAAAATCTATCTAGGTTTCCAGATTAAATTTCTACCTTTCATATAGAGAGTTTAATTTTAATAAA
ATGTTTAATTAGAGCATCCTTCCCTTTTATTCTACTTTGAACAAATAGTAATTTTACCCCAACTACTTTTCATGAAGAGTGCTTTGAAAATTAAAGGAATTTTTATTATTATGGTAACCTTATGAGTA
AAAATAAGTTACTTTAATTGCTTTATTTCGTTAGTTGTCATTTTATTTTGTACTATGCTGGTAAACTAATTGTGGTTTAGAATAGTTTTATGTTCACTCCTGATAACTGAGAAACAGAACTAAAGTTT
TCCTTACATTGCTAAATGGATAAACCTCATATTCAATAAACTAGTAAATGTAGCCACTTGACTGATTGCGTAAATCGTGTTAAAACATTCTAAAATGTTGTAACTAATTTAATGTGAATACTGTTAAA
CAGAAAATAATTGCTTATAAAAGTCTAACTTCACCCAGTTACCAAGTCTTGGCCAAATTTTATCTTCTGCCTATAGTTTTTACTAGCCTTTTTAAACTATAATAGTGAGTGATCATTACTTTATATTC
TCGTAAGTTAGAAATACTTGAATGCCAAATTAATTTTGTTTTAAGAAAGCTTATTTTTAACATAATTTTTTAGTGTGGAGGGTTTGTAAATAATGTAAAGTTTGTAAACCTGTATTTAAAATACCAAA
GTTTTTCTTCTTTTATAACATTGTAAGATACTAGAAAAATGGGCTTCAAGTTTTTTAATAGCTTTCACAGTTTGTGTAGTTTTTTTTTTCTATTTGGTTAAGATGTGAGTTGGAAATGTATTATTTGA
AACATTTAAACTAATTTTTGTATTTAACAGCAGTCTCAGACATTTGTCTTTTCAACTCAGTTGAGTTGTAGATATCAAATAGAAATGTCCAGTTTTGCCTCTTTTAAGTACTGTCCAGTTGAAACCTC
CTGACTCATGTACTACTACACAAACTAGAAAATGCCCATTTATTTTTGTTGATTCAACACTCCAGATACAGATTGATACATATATACTAATCATTTTATTTCATGTAAAAGTTTTACATCTAGGGTGC
CTATTTATTTTTATAGATGCTTTCATCCAGTTATAAGCTTATTATAACTTTGTAAATATTTCAGCCAACAGTTGTAATGTTTAAAATACTTACCTTCAGAATGTTATATTTTCATGTGAAATCAATTT
CTTCTAATTCAAAAAAATTTTAAGATAAACTGATTTTTAAGTTTA

hide sequence

RefSeq Acc Id:

XM_005263077 ⟹ XP_005263134

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	119,212,713 - 119,295,518 (+)	NCBI
GRCh37	4	120,133,775 - 120,216,673 (+)	NCBI

Sequence:

show sequence

GACTGGTCCCTGGGTATTGGGGCGTATGCGCATGCTCCGCTCACAGGGTCGGGCTCTGGGCGGC
GGAGACCAGCCGCCTGTGCTCCAGTTCCCGGTGAGCCTCGGTACTGTGGCAGCAGTCAGTGTGTCTGGCGGGTGTCGGCGTGAAGCGGGGCTGGGCCAGCGGGAGGTAGCTCTGTGGGAGTGGAAGGC
CTGTATTTCTCTACCTGGACCGCACGCTCCTCGCGCAAGGAGGGTAGAGCTCAAGTTCCGTGATGATGGTCTAAGCAAAGACCCTTCGTCCTGTTAAAGATAAATTAAAAAAAAAAAAAAAAAACCAA
AGGGAACAAAACTTACTCTGCAAAAGTAATATATGATTTACCTGCTGTTGTCATAAGAATTCCAAATAGACAAACTCGGTATGCTTGGGATTTGCTTTACATTCTAAGTGGATTTGGAGAAGAGACAA
TAAAGAATAAGCAGTCAATTCTATAATATATTTAGAAGGAGAAAAGTGCCAAGGAGGAATGAAAAAGTAGAACAAGATTTGCTTTGAGGTCACATTGATATGAAATATGGAGTCACCTTTTATAACTT
CACCTGGGAAAGAGAGAGAAAACTTTCTTGTTAAAAAAACATAAGGAAAACAAACAACCAAAGGAATCATGCCAAATGCCAACTCTACATCTTTTTGTATTATTAACATATTTTATGCATCAAGACAA
ATGGCTTATGCATTAAAGGGGATGATTCGTTCATCAGTATTTTTAGCCATTAAAAAAAATCGTTTTCATATTAACCTTATACAGCTCCCATAAAATTTAACACATATAAACATCTTTAACGCCTTGTT
TAAAATAGCTTTCTTTTTTAGTGCTTAGAACTTCAATGTTTATGCACCCTATTGTTACTTGTCAGAGTCTTTAAGAGTTTATAACATCAGGAAAGATATGGACTTGGAAACTTACATTATTAAAATAG
ACTGCAGTGGATTTAATTGGACAATTCAAGACATCCATTTTATTGTCCAAAATATTACATAAAAGTGTACAGTTTTTAGCCTAAATGCAAACAAAGTTGCTTGAAAATGGCATGGGTAAAATTCTTAC
GGAAACCTGGTGGCAATCTTGGAAAAGTTTATCAGCCTGGAAGTATGCTATCACTAGCCCCTACCAAAGGCTTGTTAAATGAACCAGGACAAAACAGCTGCTTTCTTAATAGCGCTGTACAGGTTTTA
TGGCAATTGGATATATTCCGACGAAGCTTGCGGGTTTTGACTGGACATGTTTGTCAGGGAGATGCCTGTATATTTTGTGCATTGAAGACGATATTTGCACAGTTCCAACACAGTCGAGAAAAAGCACT
TCCCTCAGATAACATAAGGCATGCTCTTGCAGAAAGTTTCAAAGATGAGCAGCGATTTCAACTTGGCCTTATGGATGATGCTGCGGAGTGCTTTGAAAATATGTTGGAGAGGATTCATTTTCACATAG
TGCCAAGCAGAGATGCAGACATGTGTACCTCTAAATCTTGTATCACTCACCAGAAGTTTGCTATGACTCTGTATGAACAGTGTGTGTGTCGTAGCTGTGGAGCATCGTCAGATCCTCTACCTTTTACA
GAATTTGTGCGGTACATTTCTACAACAGCCTTATGCAATGAGGTTGAAAGAATGTTGGAAAGGCATGAACGCTTTAAACCTGAAATGTTTGCAGAATTGCTACAAGCAGCAAATACAACAGATGACTA
TAGGAAATGTCCTAGTAACTGTGGCCAAAAAATAAAAATTCGCCGTGTTTTAATGAATTGCCCAGAGATTGTTACAATTGGTTTAGTCTGGGACTCCGAGCATTCTGACTTGACCGAAGCTGTTGTTC
GGAATCTAGCAACACATCTTTATCTTCCTGGGCTTTTTTATAGAGTTACTGATGAAAATGCCAAAAATAGTGAACTTAACCTTGTTGGTATGATCTGCTACACCAGCCAACATTATTGTGCCTTTGCA
TTTCACACCAAAAGTTCCAAATGGGTATTTTTTGATGATGCAAATGTGAAAGAGATTGGAACTAGATGGAAAGATGTTGTCTCCAAATGCATTCGATGCCACTTTCAGCCACTACTTTTGTTTTATGC
AAACCCAGATGGCACAGCAGTTTCTACTGAGGATGCACTCAGGCAGGTCATCAGCTGGTCACATTACAAATCTGTTGCAGAAAATATGGGATGTGAAAAGCCTGTAATTCATAAGTCAGATAATTTAA
AAGAAAATGGATTTGGTGATCAGGCAAAGCAGAGAGAAAATCAGAAATTTCCAACTGATAATATTTCATCATCTAATCGGAGCCACAGTCACACAGGTGTAGGGAAAGGACCAGCTAAGTTAAGTCAC
ATTGATCAAAGGGAAAAGATAAAAGACATTTCCAGAGAATGTGCTCTGAAAGCTATTGAACAGAAAAACTTACTTTCTTCACAAAGGAAAGATTTAGAGAAGGGACAAAGAAAAGATTTAGGACGACA
TAGAGATTTGGTTGATGAAGACCTTTCACATTTCCAATCTGGATCACCTCCTGCCCCAAATGGTTTTAAACAACATGGGAATCCACATCTATATCATAGTCAAGGAAAAGGATCATATAAACATGACC
GAGTTGTACCTCAGAGTCGAGCTTCTGCACAAATAATAAGTTCAAGTAAATCCCAGATTCTTGCTCCAGGAGAGAAAATAACTGGCAAAGTTAAGAGTGACAATGGCACTGGATATGACACAGACAGC
AGCCAAGATTCTAGGGATAGAGGAAACAGCTGTGATAGCAGCAGTAAAAGCCGGAACCGAGGTTGGAAACCTATGAGAGAAACATTAAATGTTGATAGTATTTTTAGTGAAAGTGAAAAAAGACAGCA
TAGTCCAAGACATAAACCAAATATCAGTAATAAGCCTAAATCTAGCAAGGATCCGAGTTTTAGTAATTGGCCAAAAGAGAATCCAAAGCAAAAAGGTTTAATGACCATATATGAAGATGAAATGAAGC
AGGAAATAGGAAGCAGAAGTTCCCTTGAATCTAATGGAAAAGGAGCAGAGAAAAATAAAGGCCTTGTAGAGGGTAAAGTGCATGGTGATAATTGGCAGATGCAAAGGACTGAGTCTGGATATGAAAGC
AGTGATCACATCAGTAATGGTTCTACTAATTTGGACTCACCTGTTATCGATGGAAATGGTACAGTAATGGATATCAGTGGTGTTAAAGAAACAGTATGCTTCAGTGACCAGATTACGACAAGCAACCT
AAATAAAGAACGTGGGGACTGTACCTCCCTTCAGAGCCAACATCACTTAGAAGATCACATGTACATGAAGACAATGGAAAGTTATTTCCTTCATCCAGTCTACAAATACCCAAGGACCATAATGCAAG
AGAACATATCCACCAGTCAGATGAACAGAAACTTGAAAAACCGAATGAATGCAAATTTTCTGAGTGGCTTAATATAGAAAATTCTGAGAGAACAGGTTTGCCTTTTCACGTTGATAACTCTGCTTCTG
GGAAGAGAGTGAACAGTAATGAACCATCTTCATTATGGTCTTCACACCTAAGAACTGTTGGGTTAAAGCCAGAAACTGCTCCTCTCATCCAGCAACAAAATATCATGGATCAATGTTACTTTGAGAAC
TCTCTATCCACAGAATGTATAATTCGGTCAGCCAGCAGATCTGATGGGTGTCAGATGCCAAAACTTTTTTGCCAGAATCTACCACCCCCTTTGCCACCAAAGAAATATGCTATAACCAGTGTGCCACA
GTCAGAGAAAAGCGAATCTACACCTGATGTCAAACTTACAGAGGTGTTTAAAGCTACCTCTCATCTTCCGAAGCACAGTTTAAGTACAGCTTCAGAACCAAGTTTAGAAGTGAGTACACATATGAATG
ATGAAAGACATAAAGAAACATTTCAAGTGAGAGAATGTTTTGGCAACACACCAAACTGTCCATCCAGCTCCTCAACTAACGATTTTCAGGCAAACTCAGGTGCCATTGATGCATTTTGCCAACCAGAA
CTAGACTCTATTTCTACCTGTCCAAATGAGACAGTTTCATTAACTACCTATTTTTCAGTTGATAGCTGCATGACGGATACATATAGATTGAAATACCATCAGAGGCCCAAGCTCTCTTTTCCAGAGAG
CAGTGGCTTTTGTAATAATTCACTATCTTAGAGTGAAAAAGGACTAGACCTGTGTTACATAATAATCTTGGTTCAAGCTGCCCTTCTGAACAAAGATATAAACCTAGCATACATTGTAATAGATAACT
GGTAAAACTGACCAACTTTTACTTCTCAGAGGCCATTTAAATATAATAGGAACCTACTGACCAAACCTAGTGATACATAAAATTAAAGCCTGTGGCATTTTTAAAGTTGTTAATCACTATACATATGT
ATGTGTATATGTGTATACACATATATAATTTTATGATCAATATCTTAGATATTTTAGAAATTCCCTTTGAATAGTCTTGGCGTGCCGTGAAAAATAGAAAATCAGGGAGATATAATAATTCATTTGTC
ATATGCTACAGTTGAATAAAAATTAAATTTGTCCCCCTATTTTGTGGCCAGTAGACTGGGAAGTATTAAACTAACCAGTACTCATGTATGGAGATTATAAACTATGCTAATTGAAAAGTACCAGGTGA
TACATAGCCTGGTACTTTTTTGTCAAAGAATTGCTTTATGAAGAAGCACTTTCTAATGGGTAACCAGAAAAGGGCTTCACCCATTTGTTTTTGACTTCTATGATAGTCACTGCATATGATCCCTTTAA
GTGTCTTTAAAAAAAATGACTTATGAATTTGATAGCATTTGGGGAAAAAAAGCCTTATATGATTAACAATTTGTAAGTTTTCAAGATCGGATGGAATTTAATTTTGCTCCTAGAATTTTTGTCTTCAG
AATATCTAGTTAAGATAAATTAGGCCTTTGACTATTATAGGTATTCATAAATGCTACTTTAGCCATGTAAGTTAAAAAGTTAAAATACTTAAACTTTAGTGTATTTATTTATCTCGTTACTTTTTTTC
TAATTTTATATGAAATGTGAAAGGTCTTTATTTTGGTTTGGTTTACTTTGGGCTGCTAACCACCAGTGTTAGGAATTAATGTAGGGCACCCTCTTATTGGGAATGTCACTGTAATTGCCTACATTTTC
TTTGCTGTAATATTACCTGCTTATAGGTTGTCAACCCATTTTATCTGAATTTGAAAATCTATCTAGGTTTCCAGATTAAATTTCTACCTTTCATATAGAGAGTTTAATTTTAATAAAATGTTTAATTA
GAGCATCCTTCCCTTTTATTCTACTTTGAACAAATAGTAATTTTACCCCAACTACTTTTCATGAAGAGTGCTTTGAAAATTAAAGGAATTTTTATTATTATGGTAACCTTATGAGTAAAAATAAGTTA
CTTTAATTGCTTTATTTCGTTAGTTGTCATTTTATTTTGTACTATGCTGGTAAACTAATTGTGGTTTAGAATAGTTTTATGTTCACTCCTGATAACTGAGAAACAGAACTAAAGTTTTCCTTACATTG
CTAAATGGATAAACCTCATATTCAATAAACTAGTAAATGTAGCCACTTGACTGATTGCGTAAATCGTGTTAAAACATTCTAAAATGTTGTAACTAATTTAATGTGAATACTGTTAAACAGAAAATAAT
TGCTTATAAAAGTCTAACTTCACCCAGTTACCAAGTCTTGGCCAAATTTTATCTTCTGCCTATAGTTTTTACTAGCCTTTTTAAACTATAATAGTGAGTGATCATTACTTTATATTCTCGTAAGTTAG
AAATACTTGAATGCCAAATTAATTTTGTTTTAAGAAAGCTTATTTTTAACATAATTTTTTAGTGTGGAGGGTTTGTAAATAATGTAAAGTTTGTAAACCTGTATTTAAAATACCAAAGTTTTTCTTCT
TTTATAACATTGTAAGATACTAGAAAAATGGGCTTCAAGTTTTTTAATAGCTTTCACAGTTTGTGTAGTTTTTTTTTTCTATTTGGTTAAGATGTGAGTTGGAAATGTATTATTTGAAACATTTAAAC
TAATTTTTGTATTTAACAGCAGTCTCAGACATTTGTCTTTTCAACTCAGTTGAGTTGTAGATATCAAATAGAAATGTCCAGTTTTGCCTCTTTTAAGTACTGTCCAGTTGAAACCTCCTGACTCATGT
ACTACTACACAAACTAGAAAATGCCCATTTATTTTTGTTGATTCAACACTCCAGATACAGATTGATACATATATACTAATCATTTTATTTCATGTAAAAGTTTTACATCTAGGGTGCCTATTTATTTT
TATAGATGCTTTCATCCAGTTATAAGCTTATTATAACTTTGTAAATATTTCAGCCAACAGTTGTAATGTTTAAAATACTTACCTTCAGAATGTTATATTTTCATGTGAAATCAATTTCTTCTAATTCA
AAAAAATTTTAAGATAAACTGATTTTTAAGTTTA

hide sequence

RefSeq Acc Id:

XM_011532037 ⟹ XP_011530339

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	119,213,234 - 119,295,518 (+)	NCBI

Sequence:

show sequence

TCCTGCCCCTGGCTGTCCAAGCCACATTGCCTCGCCTGAGCACACAGTTTTTTACTTAAAGGGG
TCCAGGATGGTTATGCTCCCTCCTTGGAGAAGAGAGATGACTGGACTCGTGAGATTCTTGGGGTGGTGGTTTCTCAGTGGTAGTGGTGATGTATATAAAGTTAATGTTTAGCTTCTAAAGGGCGGCTT
ACGGGGCATTTACCAAACTATTTTTAAACAGTGTTGGAGAACAGGAAGTACTTGCACAGGTGTAATAGGGAGGGTTTCTAAAACCTGCAATCTGAGGATGTTTTGAGTTCCGTGATGATGGTCTAAGC
AAAGACCCTTCGTCCTGTTAAAGATAAATTAAAAAAAAAAAAAAAAAACCAAAGGGAACAAAACTTACTCTGCAAAAGTAATATATGATTTACCTGCTGTTGTCATAAGAATTCCAAATAGACAAACT
CGGTATGCTTGGGATTTGCTTTACATTCTAAGTGGATTTGGAGAAGAGACAATAAAGAATAAGCAGTCAATTCTATAATATATTTAGAAGGAGAAAAGTGCCAAGGAGGAATGAAAAAGTAGAACAAG
ATTTGCTTTGAGGTCACATTGATATGAAATATGGAGTCACCTTTTATAACTTCACCTGGGAAAGAGAGAGAAAACTTTCTTGTTAAAAAAACATAAGGAAAACAAACAACCAAAGGAATCATGCCAAA
TGCCAACTCTACATCTTTTTGTATTATTAACATATTTTATGCATCAAGACAAATGGCTTATGCATTAAAGGGGATGATTCGTTCATCAGTATTTTTAGCCATTAAAAAAAATCGTTTTCATATTAACC
TTATACAGCTCCCATAAAATTTAACACATATAAACATCTTTAACGCCTTGTTTAAAATAGCTTTCTTTTTTAGTGCTTAGAACTTCAATGTTTATGCACCCTATTGTTACTTGTCAGAGTCTTTAAGA
GTTTATAACATCAGGAAAGATATGGACTTGGAAACTTACATTATTAAAATAGACTGCAGTGGATTTAATTGGACAATTCAAGACATCCATTTTATTGTCCAAAATATTACATAAAAGTGTACAGTTTT
TAGCCTAAATGCAAACAAAGTTGCTTGAAAATGGCATGGGTAAAATTCTTACGGAAACCTGGTGGCAATCTTGGAAAAGTTTATCAGCCTGGAAGTATGCTATCACTAGCCCCTACCAAAGGCTTGTT
AAATGAACCAGGACAAAACAGCTGCTTTCTTAATAGCGCTGTACAGGTTTTATGGCAATTGGATATATTCCGACGAAGCTTGCGGGTTTTGACTGGACATGTTTGTCAGGGAGATGCCTGTATATTTT
GTGCATTGAAGACGATATTTGCACAGTTCCAACACAGTCGAGAAAAAGCACTTCCCTCAGATAACATAAGGCATGCTCTTGCAGAAAGTTTCAAAGATGAGCAGCGATTTCAACTTGGCCTTATGGAT
GATGCTGCGGAGTGCTTTGAAAATATGTTGGAGAGGATTCATTTTCACATAGTGCCAAGCAGAGATGCAGACATGTGTACCTCTAAATCTTGTATCACTCACCAGAAGTTTGCTATGACTCTGTATGA
ACAGTGTGTGTGTCGTAGCTGTGGAGCATCGTCAGATCCTCTACCTTTTACAGAATTTGTGCGGTACATTTCTACAACAGCCTTATGCAATGAGGTTGAAAGAATGTTGGAAAGGCATGAACGCTTTA
AACCTGAAATGTTTGCAGAATTGCTACAAGCAGCAAATACAACAGATGACTATAGGAAATGTCCTAGTAACTGTGGCCAAAAAATAAAAATTCGCCGTGTTTTAATGAATTGCCCAGAGATTGTTACA
ATTGGTTTAGTCTGGGACTCCGAGCATTCTGACTTGACCGAAGCTGTTGTTCGGAATCTAGCAACACATCTTTATCTTCCTGGGCTTTTTTATAGAGTTACTGATGAAAATGCCAAAAATAGTGAACT
TAACCTTGTTGGTATGATCTGCTACACCAGCCAACATTATTGTGCCTTTGCATTTCACACCAAAAGTTCCAAATGGGTATTTTTTGATGATGCAAATGTGAAAGAGATTGGAACTAGATGGAAAGATG
TTGTCTCCAAATGCATTCGATGCCACTTTCAGCCACTACTTTTGTTTTATGCAAACCCAGATGGCACAGCAGTTTCTACTGAGGATGCACTCAGGCAGGTCATCAGCTGGTCACATTACAAATCTGTT
GCAGAAAATATGGGATGTGAAAAGCCTGTAATTCATAAGTCAGATAATTTAAAAGAAAATGGATTTGGTGATCAGGCAAAGCAGAGAGAAAATCAGAAATTTCCAACTGATAATATTTCATCATCTAA
TCGGAGCCACAGTCACACAGGTGTAGGGAAAGGACCAGCTAAGTTAAGTCACATTGATCAAAGGGAAAAGATAAAAGACATTTCCAGAGAATGTGCTCTGAAAGCTATTGAACAGAAAAACTTACTTT
CTTCACAAAGGAAAGATTTAGAGAAGGGACAAAGAAAAGATTTAGGACGACATAGAGATTTGGTTGATGAAGACCTTTCACATTTCCAATCTGGATCACCTCCTGCCCCAAATGGTTTTAAACAACAT
GGGAATCCACATCTATATCATAGTCAAGGAAAAGGATCATATAAACATGACCGAGTTGTACCTCAGAGTCGAGCTTCTGCACAAATAATAAGTTCAAGTAAATCCCAGATTCTTGCTCCAGGAGAGAA
AATAACTGGCAAAGTTAAGAGTGACAATGGCACTGGATATGACACAGACAGCAGCCAAGATTCTAGGGATAGAGGAAACAGCTGTGATAGCAGCAGTAAAAGCCGGAACCGAGGTTGGAAACCTATGA
GAGAAACATTAAATGTTGATAGTATTTTTAGTGAAAGTGAAAAAAGACAGCATAGTCCAAGACATAAACCAAATATCAGTAATAAGCCTAAATCTAGCAAGGATCCGAGTTTTAGTAATTGGCCAAAA
GAGAATCCAAAGCAAAAAGGTTTAATGACCATATATGAAGATGAAATGAAGCAGGAAATAGGAAGCAGAAGTTCCCTTGAATCTAATGGAAAAGGAGCAGAGAAAAATAAAGGCCTTGTAGAGGGTAA
AGTGCATGGTGATAATTGGCAGATGCAAAGGACTGAGTCTGGATATGAAAGCAGTGATCACATCAGTAATGGTTCTACTAATTTGGACTCACCTGTTATCGATGGAAATGGTACAGTAATGGATATCA
GTGGTGTTAAAGAAACAGTATGCTTCAGTGACCAGATTACGACAAGCAACCTAAATAAAGAACGTGGGGACTGTACCTCCCTTCAGAGCCAACATCACTTAGAAGGCTTTAGAAAAGAACTCAGGAAT
TTGGAAGCAGGCTATAAATCTCATGAATTCCACCCAGAATCACATTTACAAATAAAAAATCATTTGATAAAAAGATCACATGTACATGAAGACAATGGAAAGTTATTTCCTTCATCCAGTCTACAAAT
ACCCAAGGACCATAATGCAAGAGAACATATCCACCAGTCAGATGAACAGAAACTTGAAAAACCGAATGAATGCAAATTTTCTGAGTGGCTTAATATAGAAAATTCTGAGAGAACAGGTTTGCCTTTTC
ACGTTGATAACTCTGCTTCTGGGAAGAGAGTGAACAGTAATGAACCATCTTCATTATGGTCTTCACACCTAAGAACTGTTGGGTTAAAGCCAGAAACTGCTCCTCTCATCCAGCAACAAAATATCATG
GATCAATGTTACTTTGAGAACTCTCTATCCACAGAATGTATAATTCGGTCAGCCAGCAGATCTGATGGGTGTCAGATGCCAAAACTTTTTTGCCAGAATCTACCACCCCCTTTGCCACCAAAGAAATA
TGCTATAACCAGTGTGCCACAGTCAGAGAAAAGCGAATCTACACCTGATGTCAAACTTACAGAGGTGTTTAAAGCTACCTCTCATCTTCCGAAGCACAGTTTAAGTACAGCTTCAGAACCAAGTTTAG
AAGTGAGTACACATATGAATGATGAAAGACATAAAGAAACATTTCAAGTGAGAGAATGTTTTGGCAACACACCAAACTGTCCATCCAGCTCCTCAACTAACGATTTTCAGGCAAACTCAGGTGCCATT
GATGCATTTTGCCAACCAGAACTAGACTCTATTTCTACCTGTCCAAATGAGACAGTTTCATTAACTACCTATTTTTCAGTTGATAGCTGCATGACGGATACATATAGATTGAAATACCATCAGAGGCC
CAAGCTCTCTTTTCCAGAGAGCAGTGGCTTTTGTAATAATTCACTATCTTAGAGTGAAAAAGGACTAGACCTGTGTTACATAATAATCTTGGTTCAAGCTGCCCTTCTGAACAAAGATATAAACCTAG
CATACATTGTAATAGATAACTGGTAAAACTGACCAACTTTTACTTCTCAGAGGCCATTTAAATATAATAGGAACCTACTGACCAAACCTAGTGATACATAAAATTAAAGCCTGTGGCATTTTTAAAGT
TGTTAATCACTATACATATGTATGTGTATATGTGTATACACATATATAATTTTATGATCAATATCTTAGATATTTTAGAAATTCCCTTTGAATAGTCTTGGCGTGCCGTGAAAAATAGAAAATCAGGG
AGATATAATAATTCATTTGTCATATGCTACAGTTGAATAAAAATTAAATTTGTCCCCCTATTTTGTGGCCAGTAGACTGGGAAGTATTAAACTAACCAGTACTCATGTATGGAGATTATAAACTATGC
TAATTGAAAAGTACCAGGTGATACATAGCCTGGTACTTTTTTGTCAAAGAATTGCTTTATGAAGAAGCACTTTCTAATGGGTAACCAGAAAAGGGCTTCACCCATTTGTTTTTGACTTCTATGATAGT
CACTGCATATGATCCCTTTAAGTGTCTTTAAAAAAAATGACTTATGAATTTGATAGCATTTGGGGAAAAAAAGCCTTATATGATTAACAATTTGTAAGTTTTCAAGATCGGATGGAATTTAATTTTGC
TCCTAGAATTTTTGTCTTCAGAATATCTAGTTAAGATAAATTAGGCCTTTGACTATTATAGGTATTCATAAATGCTACTTTAGCCATGTAAGTTAAAAAGTTAAAATACTTAAACTTTAGTGTATTTA
TTTATCTCGTTACTTTTTTTCTAATTTTATATGAAATGTGAAAGGTCTTTATTTTGGTTTGGTTTACTTTGGGCTGCTAACCACCAGTGTTAGGAATTAATGTAGGGCACCCTCTTATTGGGAATGTC
ACTGTAATTGCCTACATTTTCTTTGCTGTAATATTACCTGCTTATAGGTTGTCAACCCATTTTATCTGAATTTGAAAATCTATCTAGGTTTCCAGATTAAATTTCTACCTTTCATATAGAGAGTTTAA
TTTTAATAAAATGTTTAATTAGAGCATCCTTCCCTTTTATTCTACTTTGAACAAATAGTAATTTTACCCCAACTACTTTTCATGAAGAGTGCTTTGAAAATTAAAGGAATTTTTATTATTATGGTAAC
CTTATGAGTAAAAATAAGTTACTTTAATTGCTTTATTTCGTTAGTTGTCATTTTATTTTGTACTATGCTGGTAAACTAATTGTGGTTTAGAATAGTTTTATGTTCACTCCTGATAACTGAGAAACAGA
ACTAAAGTTTTCCTTACATTGCTAAATGGATAAACCTCATATTCAATAAACTAGTAAATGTAGCCACTTGACTGATTGCGTAAATCGTGTTAAAACATTCTAAAATGTTGTAACTAATTTAATGTGAA
TACTGTTAAACAGAAAATAATTGCTTATAAAAGTCTAACTTCACCCAGTTACCAAGTCTTGGCCAAATTTTATCTTCTGCCTATAGTTTTTACTAGCCTTTTTAAACTATAATAGTGAGTGATCATTA
CTTTATATTCTCGTAAGTTAGAAATACTTGAATGCCAAATTAATTTTGTTTTAAGAAAGCTTATTTTTAACATAATTTTTTAGTGTGGAGGGTTTGTAAATAATGTAAAGTTTGTAAACCTGTATTTA
AAATACCAAAGTTTTTCTTCTTTTATAACATTGTAAGATACTAGAAAAATGGGCTTCAAGTTTTTTAATAGCTTTCACAGTTTGTGTAGTTTTTTTTTTCTATTTGGTTAAGATGTGAGTTGGAAATG
TATTATTTGAAACATTTAAACTAATTTTTGTATTTAACAGCAGTCTCAGACATTTGTCTTTTCAACTCAGTTGAGTTGTAGATATCAAATAGAAATGTCCAGTTTTGCCTCTTTTAAGTACTGTCCAG
TTGAAACCTCCTGACTCATGTACTACTACACAAACTAGAAAATGCCCATTTATTTTTGTTGATTCAACACTCCAGATACAGATTGATACATATATACTAATCATTTTATTTCATGTAAAAGTTTTACA
TCTAGGGTGCCTATTTATTTTTATAGATGCTTTCATCCAGTTATAAGCTTATTATAACTTTGTAAATATTTCAGCCAACAGTTGTAATGTTTAAAATACTTACCTTCAGAATGTTATATTTTCATGTG
AAATCAATTTCTTCTAATTCAAAAAAATTTTAAGATAAACTGATTTTTAAGTTTA

hide sequence

RefSeq Acc Id:

XM_017008313 ⟹ XP_016863802

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	119,212,601 - 119,295,518 (+)	NCBI

Sequence:

show sequence

GCCTGACTGGTCCCTGGGTATTGGGGCGTATGCGCATGCTCCGCTCACAGGGTCGGGCTCTGGG
CGGCGGAGACCAGCCGCCTGTGCTCCAGTTCCCGTTCCGTGATGATGGTCTAAGCAAAGACCCTTCGTCCTGTTAAAGATAAATTAAAAAAAAAAAAAAAAAACCAAAGGGAACAAAACTTACTCTGC
AAAAGTAATATATGATTTACCTGCTGTTGTCATAAGAATTCCAAATAGACAAACTCGGTATGCTTGGGATTTGCTTTACATTCTAAGTGGATTTGGAGAAGAGACAATAAAGAATAAGCAGTCAATTC
TATAATATATTTAGAAGGAGAAAAGTGCCAAGGAGGAATGAAAAAGTAGAACAAGATTTGCTTTGAGGTCACATTGATATGAAATATGGAGTCACCTTTTATAACTTCACCTGGGAAAGAGAGAGAAA
ACTTTCTTGTTAAAAAAACATAAGGAAAACAAACAACCAAAGGAATCATGCCAAATGCCAACTCTACATCTTTTTGTATTATTAACATATTTTATGCATCAAGACAAATGGCTTATGCATTAAAGGGG
ATGATTCGTTCATCAGTATTTTTAGCCATTAAAAAAAATCGTTTTCATATTAACCTTATACAGCTCCCATAAAATTTAACACATATAAACATCTTTAACGCCTTGTTTAAAATAGCTTTCTTTTTTAG
TGCTTAGAACTTCAATGTTTATGCACCCTATTGTTACTTGTCAGAGTCTTTAAGAGTTTATAACATCAGGAAAGATATGGACTTGGAAACTTACATTATTAAAATAGACTGCAGTGGATTTAATTGGA
CAATTCAAGACATCCATTTTATTGTCCAAAATATTACATAAAAGTGTACAGTTTTTAGCCTAAATGCAAACAAAGTTGCTTGAAAATGGCATGGGTAAAATTCTTACGGAAACCTGGTGGCAATCTTG
GAAAAGTTTATCAGCCTGGAAGTATGCTATCACTAGCCCCTACCAAAGGCTTGTTAAATGAACCAGGACAAAACAGCTGCTTTCTTAATAGCGCTGTACAGGTTTTATGGCAATTGGATATATTCCGA
CGAAGCTTGCGGGTTTTGACTGGACATGTTTGTCAGGGAGATGCCTGTATATTTTGTGCATTGAAGACGATATTTGCACAGTTCCAACACAGTCGAGAAAAAGCACTTCCCTCAGATAACATAAGGCA
TGCTCTTGCAGAAAGTTTCAAAGATGAGCAGCGATTTCAACTTGGCCTTATGGATGATGCTGCGGAGTGCTTTGAAAATATGTTGGAGAGGATTCATTTTCACATAGTGCCAAGCAGAGATGCAGACA
TGTGTACCTCTAAATCTTGTATCACTCACCAGAAGTTTGCTATGACTCTGTATGAACAGTGTGTGTGTCGTAGCTGTGGAGCATCGTCAGATCCTCTACCTTTTACAGAATTTGTGCGGTACATTTCT
ACAACAGCCTTATGCAATGAGGTTGAAAGAATGTTGGAAAGGCATGAACGCTTTAAACCTGAAATGTTTGCAGAATTGCTACAAGCAGCAAATACAACAGATGACTATAGGAAATGTCCTAGTAACTG
TGGCCAAAAAATAAAAATTCGCCGTGTTTTAATGAATTGCCCAGAGATTGTTACAATTGGTTTAGTCTGGGACTCCGAGCATTCTGACTTGACCGAAGCTGTTGTTCGGAATCTAGCAACACATCTTT
ATCTTCCTGGGCTTTTTTATAGAGTTACTGATGAAAATGCCAAAAATAGTGAACTTAACCTTGTTGGTATGATCTGCTACACCAGCCAACATTATTGTGCCTTTGCATTTCACACCAAAAGTTCCAAA
TGGGTATTTTTTGATGATGCAAATGTGAAAGAGATTGGAACTAGATGGAAAGATGTTGTCTCCAAATGCATTCGATGCCACTTTCAGCCACTACTTTTGTTTTATGCAAACCCAGATGGCACAGCAGT
TTCTACTGAGGATGCACTCAGGCAGGTCATCAGCTGGTCACATTACAAATCTGTTGCAGAAAATATGGGATGTGAAAAGCCTGTAATTCATAAGTCAGATAATTTAAAAGAAAATGGATTTGGTGATC
AGGCAAAGCAGAGAGAAAATCAGAAATTTCCAACTGATAATATTTCATCATCTAATCGGAGCCACAGTCACACAGGTGTAGGGAAAGGACCAGCTAAGTTAAGTCACATTGATCAAAGGGAAAAGATA
AAAGACATTTCCAGAGAATGTGCTCTGAAAGCTATTGAACAGAAAAACTTACTTTCTTCACAAAGGAAAGATTTAGAGAAGGGACAAAGAAAAGATTTAGGACGACATAGAGATTTGGTTGATGAAGA
CCTTTCACATTTCCAATCTGGATCACCTCCTGCCCCAAATGGTTTTAAACAACATGGGAATCCACATCTATATCATAGTCAAGGAAAAGGATCATATAAACATGACCGAGTTGTACCTCAGAGTCGAG
CTTCTGCACAAATAATAAGTTCAAGTAAATCCCAGATTCTTGCTCCAGGAGAGAAAATAACTGGCAAAGTTAAGAGTGACAATGGCACTGGATATGACACAGACAGCAGCCAAGATTCTAGGGATAGA
GGAAACAGCTGTGATAGCAGCAGTAAAAGCCGGAACCGAGGTTGGAAACCTATGAGAGAAACATTAAATGTTGATAGTATTTTTAGTGAAAGTGAAAAAAGACAGCATAGTCCAAGACATAAACCAAA
TATCAGTAATAAGCCTAAATCTAGCAAGGATCCGAGTTTTAGTAATTGGCCAAAAGAGAATCCAAAGCAAAAAGGTTTAATGACCATATATGAAGATGAAATGAAGCAGGAAATAGGAAGCAGAAGTT
CCCTTGAATCTAATGGAAAAGGAGCAGAGAAAAATAAAGGCCTTGTAGAGGGTAAAGTGCATGGTGATAATTGGCAGATGCAAAGGACTGAGTCTGGATATGAAAGCAGTGATCACATCAGTAATGGT
TCTACTAATTTGGACTCACCTGTTATCGATGGAAATGGTACAGTAATGGATATCAGTGGTGTTAAAGAAACAGTATGCTTCAGTGACCAGATTACGACAAGCAACCTAAATAAAGAACGTGGGGACTG
TACCTCCCTTCAGAGCCAACATCACTTAGAAGGCTTTAGAAAAGAACTCAGGAATTTGGAAGCAGGCTATAAATCTCATGAATTCCACCCAGAATCACATTTACAAATAAAAAATCATTTGATAAAAA
GATCACATGTACATGAAGACAATGGAAAGTTATTTCCTTCATCCAGTCTACAAATACCCAAGGACCATAATGCAAGAGAACATATCCACCAGTCAGATGAACAGAAACTTGAAAAACCGAATGAATGC
AAATTTTCTGAGTGGCTTAATATAGAAAATTCTGAGAGAACAGGTTTGCCTTTTCACGTTGATAACTCTGCTTCTGGGAAGAGAGTGAACAGTAATGAACCATCTTCATTATGGTCTTCACACCTAAG
AACTGTTGGGTTAAAGCCAGAAACTGCTCCTCTCATCCAGCAACAAAATATCATGGATCAATGTTACTTTGAGAACTCTCTATCCACAGAATGTATAATTCGGTCAGCCAGCAGATCTGATGGGTGTC
AGATGCCAAAACTTTTTTGCCAGAATCTACCACCCCCTTTGCCACCAAAGAAATATGCTATAACCAGTGTGCCACAGTCAGAGAAAAGCGAATCTACACCTGATGTCAAACTTACAGAGGTGTTTAAA
GCTACCTCTCATCTTCCGAAGCACAGTTTAAGTACAGCTTCAGAACCAAGTTTAGAAGTGAGTACACATATGAATGATGAAAGACATAAAGAAACATTTCAAGTGAGAGAATGTTTTGGCAACACACC
AAACTGTCCATCCAGCTCCTCAACTAACGATTTTCAGGCAAACTCAGGTGCCATTGATGCATTTTGCCAACCAGAACTAGACTCTATTTCTACCTGTCCAAATGAGACAGTTTCATTAACTACCTATT
TTTCAGTTGATAGCTGCATGACGGATACATATAGATTGAAATACCATCAGAGGCCCAAGCTCTCTTTTCCAGAGAGCAGTGGCTTTTGTAATAATTCACTATCTTAGAGTGAAAAAGGACTAGACCTG
TGTTACATAATAATCTTGGTTCAAGCTGCCCTTCTGAACAAAGATATAAACCTAGCATACATTGTAATAGATAACTGGTAAAACTGACCAACTTTTACTTCTCAGAGGCCATTTAAATATAATAGGAA
CCTACTGACCAAACCTAGTGATACATAAAATTAAAGCCTGTGGCATTTTTAAAGTTGTTAATCACTATACATATGTATGTGTATATGTGTATACACATATATAATTTTATGATCAATATCTTAGATAT
TTTAGAAATTCCCTTTGAATAGTCTTGGCGTGCCGTGAAAAATAGAAAATCAGGGAGATATAATAATTCATTTGTCATATGCTACAGTTGAATAAAAATTAAATTTGTCCCCCTATTTTGTGGCCAGT
AGACTGGGAAGTATTAAACTAACCAGTACTCATGTATGGAGATTATAAACTATGCTAATTGAAAAGTACCAGGTGATACATAGCCTGGTACTTTTTTGTCAAAGAATTGCTTTATGAAGAAGCACTTT
CTAATGGGTAACCAGAAAAGGGCTTCACCCATTTGTTTTTGACTTCTATGATAGTCACTGCATATGATCCCTTTAAGTGTCTTTAAAAAAAATGACTTATGAATTTGATAGCATTTGGGGAAAAAAAG
CCTTATATGATTAACAATTTGTAAGTTTTCAAGATCGGATGGAATTTAATTTTGCTCCTAGAATTTTTGTCTTCAGAATATCTAGTTAAGATAAATTAGGCCTTTGACTATTATAGGTATTCATAAAT
GCTACTTTAGCCATGTAAGTTAAAAAGTTAAAATACTTAAACTTTAGTGTATTTATTTATCTCGTTACTTTTTTTCTAATTTTATATGAAATGTGAAAGGTCTTTATTTTGGTTTGGTTTACTTTGGG
CTGCTAACCACCAGTGTTAGGAATTAATGTAGGGCACCCTCTTATTGGGAATGTCACTGTAATTGCCTACATTTTCTTTGCTGTAATATTACCTGCTTATAGGTTGTCAACCCATTTTATCTGAATTT
GAAAATCTATCTAGGTTTCCAGATTAAATTTCTACCTTTCATATAGAGAGTTTAATTTTAATAAAATGTTTAATTAGAGCATCCTTCCCTTTTATTCTACTTTGAACAAATAGTAATTTTACCCCAAC
TACTTTTCATGAAGAGTGCTTTGAAAATTAAAGGAATTTTTATTATTATGGTAACCTTATGAGTAAAAATAAGTTACTTTAATTGCTTTATTTCGTTAGTTGTCATTTTATTTTGTACTATGCTGGTA
AACTAATTGTGGTTTAGAATAGTTTTATGTTCACTCCTGATAACTGAGAAACAGAACTAAAGTTTTCCTTACATTGCTAAATGGATAAACCTCATATTCAATAAACTAGTAAATGTAGCCACTTGACT
GATTGCGTAAATCGTGTTAAAACATTCTAAAATGTTGTAACTAATTTAATGTGAATACTGTTAAACAGAAAATAATTGCTTATAAAAGTCTAACTTCACCCAGTTACCAAGTCTTGGCCAAATTTTAT
CTTCTGCCTATAGTTTTTACTAGCCTTTTTAAACTATAATAGTGAGTGATCATTACTTTATATTCTCGTAAGTTAGAAATACTTGAATGCCAAATTAATTTTGTTTTAAGAAAGCTTATTTTTAACAT
AATTTTTTAGTGTGGAGGGTTTGTAAATAATGTAAAGTTTGTAAACCTGTATTTAAAATACCAAAGTTTTTCTTCTTTTATAACATTGTAAGATACTAGAAAAATGGGCTTCAAGTTTTTTAATAGCT
TTCACAGTTTGTGTAGTTTTTTTTTTCTATTTGGTTAAGATGTGAGTTGGAAATGTATTATTTGAAACATTTAAACTAATTTTTGTATTTAACAGCAGTCTCAGACATTTGTCTTTTCAACTCAGTTG
AGTTGTAGATATCAAATAGAAATGTCCAGTTTTGCCTCTTTTAAGTACTGTCCAGTTGAAACCTCCTGACTCATGTACTACTACACAAACTAGAAAATGCCCATTTATTTTTGTTGATTCAACACTCC
AGATACAGATTGATACATATATACTAATCATTTTATTTCATGTAAAAGTTTTACATCTAGGGTGCCTATTTATTTTTATAGATGCTTTCATCCAGTTATAAGCTTATTATAACTTTGTAAATATTTCA
GCCAACAGTTGTAATGTTTAAAATACTTACCTTCAGAATGTTATATTTTCATGTGAAATCAATTTCTTCTAATTCAAAAAAATTTTAAGATAAACTGATTTTTAAGTTTA

hide sequence

RefSeq Acc Id:

XM_017008314 ⟹ XP_016863803

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	119,213,234 - 119,295,518 (+)	NCBI

Sequence:

show sequence

TCCAAGCCACATTGCCTCGCCTGAGCACACAGTTTTTTACTTAAAGGGGTCCAGGATGGTTATGCTCCCTCCTTGGAGAAGAGAGATGACTGGACTCTTCCGTGATGATGGTCTAAGCAAAGACCCTT
CGTCCTGTTAAAGATAAATTAAAAAAAAAAAAAAAAAACCAAAGGGAACAAAACTTACTCTGCAAAAGTAATATATGATTTACCTGCTGTTGTCATAAGAATTCCAAATAGACAAACTCGGTATGCTT
GGGATTTGCTTTACATTCTAAGTGGATTTGGAGAAGAGACAATAAAGAATAAGCAGTCAATTCTATAATATATTTAGAAGGAGAAAAGTGCCAAGGAGGAATGAAAAAGTAGAACAAGATTTGCTTTG
AGGTCACATTGATATGAAATATGGAGTCACCTTTTATAACTTCACCTGGGAAAGAGAGAGAAAACTTTCTTGTTAAAAAAACATAAGGAAAACAAACAACCAAAGGAATCATGCCAAATGCCAACTCT
ACATCTTTTTGTATTATTAACATATTTTATGCATCAAGACAAATGGCTTATGCATTAAAGGGGATGATTCGTTCATCAGTATTTTTAGCCATTAAAAAAAATCGTTTTCATATTAACCTTATACAGCT
CCCATAAAATTTAACACATATAAACATCTTTAACGCCTTGTTTAAAATAGCTTTCTTTTTTAGTGCTTAGAACTTCAATGTTTATGCACCCTATTGTTACTTGTCAGAGTCTTTAAGAGTTTATAACA
TCAGGAAAGATATGGACTTGGAAACTTACATTATTAAAATAGACTGCAGTGGATTTAATTGGACAATTCAAGACATCCATTTTATTGTCCAAAATATTACATAAAAGTGTACAGTTTTTAGCCTAAAT
GCAAACAAAGTTGCTTGAAAATGGCATGGGTAAAATTCTTACGGAAACCTGGTGGCAATCTTGGAAAAGTTTATCAGCCTGGAAGTATGCTATCACTAGCCCCTACCAAAGGCTTGTTAAATGAACCA
GGACAAAACAGCTGCTTTCTTAATAGCGCTGTACAGGTTTTATGGCAATTGGATATATTCCGACGAAGCTTGCGGGTTTTGACTGGACATGTTTGTCAGGGAGATGCCTGTATATTTTGTGCATTGAA
GACGATATTTGCACAGTTCCAACACAGTCGAGAAAAAGCACTTCCCTCAGATAACATAAGGCATGCTCTTGCAGAAAGTTTCAAAGATGAGCAGCGATTTCAACTTGGCCTTATGGATGATGCTGCGG
AGTGCTTTGAAAATATGTTGGAGAGGATTCATTTTCACATAGTGCCAAGCAGAGATGCAGACATGTGTACCTCTAAATCTTGTATCACTCACCAGAAGTTTGCTATGACTCTGTATGAACAGTGTGTG
TGTCGTAGCTGTGGAGCATCGTCAGATCCTCTACCTTTTACAGAATTTGTGCGGTACATTTCTACAACAGCCTTATGCAATGAGGTTGAAAGAATGTTGGAAAGGCATGAACGCTTTAAACCTGAAAT
GTTTGCAGAATTGCTACAAGCAGCAAATACAACAGATGACTATAGGAAATGTCCTAGTAACTGTGGCCAAAAAATAAAAATTCGCCGTGTTTTAATGAATTGCCCAGAGATTGTTACAATTGGTTTAG
TCTGGGACTCCGAGCATTCTGACTTGACCGAAGCTGTTGTTCGGAATCTAGCAACACATCTTTATCTTCCTGGGCTTTTTTATAGAGTTACTGATGAAAATGCCAAAAATAGTGAACTTAACCTTGTT
GGTATGATCTGCTACACCAGCCAACATTATTGTGCCTTTGCATTTCACACCAAAAGTTCCAAATGGGTATTTTTTGATGATGCAAATGTGAAAGAGATTGGAACTAGATGGAAAGATGTTGTCTCCAA
ATGCATTCGATGCCACTTTCAGCCACTACTTTTGTTTTATGCAAACCCAGATGGCACAGCAGTTTCTACTGAGGATGCACTCAGGCAGGTCATCAGCTGGTCACATTACAAATCTGTTGCAGAAAATA
TGGGATGTGAAAAGCCTGTAATTCATAAGTCAGATAATTTAAAAGAAAATGGATTTGGTGATCAGGCAAAGCAGAGAGAAAATCAGAAATTTCCAACTGATAATATTTCATCATCTAATCGGAGCCAC
AGTCACACAGGTGTAGGGAAAGGACCAGCTAAGTTAAGTCACATTGATCAAAGGGAAAAGATAAAAGACATTTCCAGAGAATGTGCTCTGAAAGCTATTGAACAGAAAAACTTACTTTCTTCACAAAG
GAAAGATTTAGAGAAGGGACAAAGAAAAGATTTAGGACGACATAGAGATTTGGTTGATGAAGACCTTTCACATTTCCAATCTGGATCACCTCCTGCCCCAAATGGTTTTAAACAACATGGGAATCCAC
ATCTATATCATAGTCAAGGAAAAGGATCATATAAACATGACCGAGTTGTACCTCAGAGTCGAGCTTCTGCACAAATAATAAGTTCAAGTAAATCCCAGATTCTTGCTCCAGGAGAGAAAATAACTGGC
AAAGTTAAGAGTGACAATGGCACTGGATATGACACAGACAGCAGCCAAGATTCTAGGGATAGAGGAAACAGCTGTGATAGCAGCAGTAAAAGCCGGAACCGAGGTTGGAAACCTATGAGAGAAACATT
AAATGTTGATAGTATTTTTAGTGAAAGTGAAAAAAGACAGCATAGTCCAAGACATAAACCAAATATCAGTAATAAGCCTAAATCTAGCAAGGATCCGAGTTTTAGTAATTGGCCAAAAGAGAATCCAA
AGCAAAAAGGTTTAATGACCATATATGAAGATGAAATGAAGCAGGAAATAGGAAGCAGAAGTTCCCTTGAATCTAATGGAAAAGGAGCAGAGAAAAATAAAGGCCTTGTAGAGGGTAAAGTGCATGGT
GATAATTGGCAGATGCAAAGGACTGAGTCTGGATATGAAAGCAGTGATCACATCAGTAATGGTTCTACTAATTTGGACTCACCTGTTATCGATGGAAATGGTACAGTAATGGATATCAGTGGTGTTAA
AGAAACAGTATGCTTCAGTGACCAGATTACGACAAGCAACCTAAATAAAGAACGTGGGGACTGTACCTCCCTTCAGAGCCAACATCACTTAGAAGGCTTTAGAAAAGAACTCAGGAATTTGGAAGCAG
GCTATAAATCTCATGAATTCCACCCAGAATCACATTTACAAATAAAAAATCATTTGATAAAAAGATCACATGTACATGAAGACAATGGAAAGTTATTTCCTTCATCCAGTCTACAAATACCCAAGGAC
CATAATGCAAGAGAACATATCCACCAGTCAGATGAACAGAAACTTGAAAAACCGAATGAATGCAAATTTTCTGAGTGGCTTAATATAGAAAATTCTGAGAGAACAGGTTTGCCTTTTCACGTTGATAA
CTCTGCTTCTGGGAAGAGAGTGAACAGTAATGAACCATCTTCATTATGGTCTTCACACCTAAGAACTGTTGGGTTAAAGCCAGAAACTGCTCCTCTCATCCAGCAACAAAATATCATGGATCAATGTT
ACTTTGAGAACTCTCTATCCACAGAATGTATAATTCGGTCAGCCAGCAGATCTGATGGGTGTCAGATGCCAAAACTTTTTTGCCAGAATCTACCACCCCCTTTGCCACCAAAGAAATATGCTATAACC
AGTGTGCCACAGTCAGAGAAAAGCGAATCTACACCTGATGTCAAACTTACAGAGGTGTTTAAAGCTACCTCTCATCTTCCGAAGCACAGTTTAAGTACAGCTTCAGAACCAAGTTTAGAAGTGAGTAC
ACATATGAATGATGAAAGACATAAAGAAACATTTCAAGTGAGAGAATGTTTTGGCAACACACCAAACTGTCCATCCAGCTCCTCAACTAACGATTTTCAGGCAAACTCAGGTGCCATTGATGCATTTT
GCCAACCAGAACTAGACTCTATTTCTACCTGTCCAAATGAGACAGTTTCATTAACTACCTATTTTTCAGTTGATAGCTGCATGACGGATACATATAGATTGAAATACCATCAGAGGCCCAAGCTCTCT
TTTCCAGAGAGCAGTGGCTTTTGTAATAATTCACTATCTTAGAGTGAAAAAGGACTAGACCTGTGTTACATAATAATCTTGGTTCAAGCTGCCCTTCTGAACAAAGATATAAACCTAGCATACATTGT
AATAGATAACTGGTAAAACTGACCAACTTTTACTTCTCAGAGGCCATTTAAATATAATAGGAACCTACTGACCAAACCTAGTGATACATAAAATTAAAGCCTGTGGCATTTTTAAAGTTGTTAATCAC
TATACATATGTATGTGTATATGTGTATACACATATATAATTTTATGATCAATATCTTAGATATTTTAGAAATTCCCTTTGAATAGTCTTGGCGTGCCGTGAAAAATAGAAAATCAGGGAGATATAATA
ATTCATTTGTCATATGCTACAGTTGAATAAAAATTAAATTTGTCCCCCTATTTTGTGGCCAGTAGACTGGGAAGTATTAAACTAACCAGTACTCATGTATGGAGATTATAAACTATGCTAATTGAAAA
GTACCAGGTGATACATAGCCTGGTACTTTTTTGTCAAAGAATTGCTTTATGAAGAAGCACTTTCTAATGGGTAACCAGAAAAGGGCTTCACCCATTTGTTTTTGACTTCTATGATAGTCACTGCATAT
GATCCCTTTAAGTGTCTTTAAAAAAAATGACTTATGAATTTGATAGCATTTGGGGAAAAAAAGCCTTATATGATTAACAATTTGTAAGTTTTCAAGATCGGATGGAATTTAATTTTGCTCCTAGAATT
TTTGTCTTCAGAATATCTAGTTAAGATAAATTAGGCCTTTGACTATTATAGGTATTCATAAATGCTACTTTAGCCATGTAAGTTAAAAAGTTAAAATACTTAAACTTTAGTGTATTTATTTATCTCGT
TACTTTTTTTCTAATTTTATATGAAATGTGAAAGGTCTTTATTTTGGTTTGGTTTACTTTGGGCTGCTAACCACCAGTGTTAGGAATTAATGTAGGGCACCCTCTTATTGGGAATGTCACTGTAATTG
CCTACATTTTCTTTGCTGTAATATTACCTGCTTATAGGTTGTCAACCCATTTTATCTGAATTTGAAAATCTATCTAGGTTTCCAGATTAAATTTCTACCTTTCATATAGAGAGTTTAATTTTAATAAA
ATGTTTAATTAGAGCATCCTTCCCTTTTATTCTACTTTGAACAAATAGTAATTTTACCCCAACTACTTTTCATGAAGAGTGCTTTGAAAATTAAAGGAATTTTTATTATTATGGTAACCTTATGAGTA
AAAATAAGTTACTTTAATTGCTTTATTTCGTTAGTTGTCATTTTATTTTGTACTATGCTGGTAAACTAATTGTGGTTTAGAATAGTTTTATGTTCACTCCTGATAACTGAGAAACAGAACTAAAGTTT
TCCTTACATTGCTAAATGGATAAACCTCATATTCAATAAACTAGTAAATGTAGCCACTTGACTGATTGCGTAAATCGTGTTAAAACATTCTAAAATGTTGTAACTAATTTAATGTGAATACTGTTAAA
CAGAAAATAATTGCTTATAAAAGTCTAACTTCACCCAGTTACCAAGTCTTGGCCAAATTTTATCTTCTGCCTATAGTTTTTACTAGCCTTTTTAAACTATAATAGTGAGTGATCATTACTTTATATTC
TCGTAAGTTAGAAATACTTGAATGCCAAATTAATTTTGTTTTAAGAAAGCTTATTTTTAACATAATTTTTTAGTGTGGAGGGTTTGTAAATAATGTAAAGTTTGTAAACCTGTATTTAAAATACCAAA
GTTTTTCTTCTTTTATAACATTGTAAGATACTAGAAAAATGGGCTTCAAGTTTTTTAATAGCTTTCACAGTTTGTGTAGTTTTTTTTTTCTATTTGGTTAAGATGTGAGTTGGAAATGTATTATTTGA
AACATTTAAACTAATTTTTGTATTTAACAGCAGTCTCAGACATTTGTCTTTTCAACTCAGTTGAGTTGTAGATATCAAATAGAAATGTCCAGTTTTGCCTCTTTTAAGTACTGTCCAGTTGAAACCTC
CTGACTCATGTACTACTACACAAACTAGAAAATGCCCATTTATTTTTGTTGATTCAACACTCCAGATACAGATTGATACATATATACTAATCATTTTATTTCATGTAAAAGTTTTACATCTAGGGTGC
CTATTTATTTTTATAGATGCTTTCATCCAGTTATAAGCTTATTATAACTTTGTAAATATTTCAGCCAACAGTTGTAATGTTTAAAATACTTACCTTCAGAATGTTATATTTTCATGTGAAATCAATTT
CTTCTAATTCAAAAAAATTTTAAGATAAACTGATTTTTAAGTTTA

hide sequence

RefSeq Acc Id:

XM_047415826 ⟹ XP_047271782

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	119,213,234 - 119,295,518 (+)	NCBI

RefSeq Acc Id:

XM_047415827 ⟹ XP_047271783

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	119,213,234 - 119,295,518 (+)	NCBI

RefSeq Acc Id:

XM_047415828 ⟹ XP_047271784

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	119,212,713 - 119,295,518 (+)	NCBI

RefSeq Acc Id:

XM_047415829 ⟹ XP_047271785

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	119,212,623 - 119,295,518 (+)	NCBI

RefSeq Acc Id:

XM_047415830 ⟹ XP_047271786

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	119,212,713 - 119,295,518 (+)	NCBI

RefSeq Acc Id:

XM_047415831 ⟹ XP_047271787

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	119,212,713 - 119,295,518 (+)	NCBI

RefSeq Acc Id:

XM_047415832 ⟹ XP_047271788

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	119,212,713 - 119,295,518 (+)	NCBI

RefSeq Acc Id:

XM_047415833 ⟹ XP_047271789

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	119,212,713 - 119,295,518 (+)	NCBI

RefSeq Acc Id:

XM_047415834 ⟹ XP_047271790

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	119,212,713 - 119,295,518 (+)	NCBI

RefSeq Acc Id:

XM_047415835 ⟹ XP_047271791

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	119,212,713 - 119,295,518 (+)	NCBI

RefSeq Acc Id:

XM_047415836 ⟹ XP_047271792

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	119,212,713 - 119,295,518 (+)	NCBI

RefSeq Acc Id:

XM_047415837 ⟹ XP_047271793

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	119,212,713 - 119,295,518 (+)	NCBI

RefSeq Acc Id:

XM_054350250 ⟹ XP_054206225

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	122,518,313 - 122,600,620 (+)	NCBI

RefSeq Acc Id:

XM_054350251 ⟹ XP_054206226

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	122,517,672 - 122,600,620 (+)	NCBI

RefSeq Acc Id:

XM_054350252 ⟹ XP_054206227

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	122,518,326 - 122,600,620 (+)	NCBI

RefSeq Acc Id:

XM_054350253 ⟹ XP_054206228

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	122,518,313 - 122,600,620 (+)	NCBI

RefSeq Acc Id:

XM_054350254 ⟹ XP_054206229

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	122,518,326 - 122,600,620 (+)	NCBI

RefSeq Acc Id:

XM_054350255 ⟹ XP_054206230

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	122,517,684 - 122,600,620 (+)	NCBI

RefSeq Acc Id:

XM_054350256 ⟹ XP_054206231

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	122,517,694 - 122,600,620 (+)	NCBI

RefSeq Acc Id:

XM_054350257 ⟹ XP_054206232

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	122,517,784 - 122,600,620 (+)	NCBI

RefSeq Acc Id:

XM_054350258 ⟹ XP_054206233

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	122,517,784 - 122,600,620 (+)	NCBI

RefSeq Acc Id:

XM_054350259 ⟹ XP_054206234

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	122,517,784 - 122,600,620 (+)	NCBI

RefSeq Acc Id:

XM_054350260 ⟹ XP_054206235

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	122,517,784 - 122,600,620 (+)	NCBI

RefSeq Acc Id:

XM_054350261 ⟹ XP_054206236

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	122,517,784 - 122,600,620 (+)	NCBI

RefSeq Acc Id:

XM_054350262 ⟹ XP_054206237

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	122,517,784 - 122,600,620 (+)	NCBI

RefSeq Acc Id:

XM_054350263 ⟹ XP_054206238

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	122,517,784 - 122,600,620 (+)	NCBI

RefSeq Acc Id:

XM_054350264 ⟹ XP_054206239

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	122,517,784 - 122,600,620 (+)	NCBI

RefSeq Acc Id:

XM_054350265 ⟹ XP_054206240

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	122,517,784 - 122,600,620 (+)	NCBI

RefSeq Acc Id:

XM_054350266 ⟹ XP_054206241

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	122,517,784 - 122,600,620 (+)	NCBI


Protein RefSeqs	NP_001358324	(Get FASTA)	NCBI Sequence Viewer
	NP_001358325	(Get FASTA)	NCBI Sequence Viewer
	NP_001358326	(Get FASTA)	NCBI Sequence Viewer
	NP_001358327	(Get FASTA)	NCBI Sequence Viewer
	NP_001358328	(Get FASTA)	NCBI Sequence Viewer
	NP_001376587	(Get FASTA)	NCBI Sequence Viewer
	NP_001376588	(Get FASTA)	NCBI Sequence Viewer
	NP_001376589	(Get FASTA)	NCBI Sequence Viewer
	NP_001376590	(Get FASTA)	NCBI Sequence Viewer
	NP_001376591	(Get FASTA)	NCBI Sequence Viewer
	NP_001376592	(Get FASTA)	NCBI Sequence Viewer
	NP_001376593	(Get FASTA)	NCBI Sequence Viewer
	NP_001376594	(Get FASTA)	NCBI Sequence Viewer
	NP_001376595	(Get FASTA)	NCBI Sequence Viewer
	NP_001376596	(Get FASTA)	NCBI Sequence Viewer
	NP_061923	(Get FASTA)	NCBI Sequence Viewer
	XP_005263132	(Get FASTA)	NCBI Sequence Viewer
	XP_005263134	(Get FASTA)	NCBI Sequence Viewer
	XP_011530339	(Get FASTA)	NCBI Sequence Viewer
	XP_016863802	(Get FASTA)	NCBI Sequence Viewer
	XP_016863803	(Get FASTA)	NCBI Sequence Viewer
	XP_047271782	(Get FASTA)	NCBI Sequence Viewer
	XP_047271783	(Get FASTA)	NCBI Sequence Viewer
	XP_047271784	(Get FASTA)	NCBI Sequence Viewer
	XP_047271785	(Get FASTA)	NCBI Sequence Viewer
	XP_047271786	(Get FASTA)	NCBI Sequence Viewer
	XP_047271787	(Get FASTA)	NCBI Sequence Viewer
	XP_047271788	(Get FASTA)	NCBI Sequence Viewer
	XP_047271789	(Get FASTA)	NCBI Sequence Viewer
	XP_047271790	(Get FASTA)	NCBI Sequence Viewer
	XP_047271791	(Get FASTA)	NCBI Sequence Viewer
	XP_047271792	(Get FASTA)	NCBI Sequence Viewer
	XP_047271793	(Get FASTA)	NCBI Sequence Viewer
	XP_054206225	(Get FASTA)	NCBI Sequence Viewer
	XP_054206226	(Get FASTA)	NCBI Sequence Viewer
	XP_054206227	(Get FASTA)	NCBI Sequence Viewer
	XP_054206228	(Get FASTA)	NCBI Sequence Viewer
	XP_054206229	(Get FASTA)	NCBI Sequence Viewer
	XP_054206230	(Get FASTA)	NCBI Sequence Viewer
	XP_054206231	(Get FASTA)	NCBI Sequence Viewer
	XP_054206232	(Get FASTA)	NCBI Sequence Viewer
	XP_054206233	(Get FASTA)	NCBI Sequence Viewer
	XP_054206234	(Get FASTA)	NCBI Sequence Viewer
	XP_054206235	(Get FASTA)	NCBI Sequence Viewer
	XP_054206236	(Get FASTA)	NCBI Sequence Viewer
	XP_054206237	(Get FASTA)	NCBI Sequence Viewer
	XP_054206238	(Get FASTA)	NCBI Sequence Viewer
	XP_054206239	(Get FASTA)	NCBI Sequence Viewer
	XP_054206240	(Get FASTA)	NCBI Sequence Viewer
	XP_054206241	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH17382	(Get FASTA)	NCBI Sequence Viewer
	BAA92588	(Get FASTA)	NCBI Sequence Viewer
	BAB14249	(Get FASTA)	NCBI Sequence Viewer
	CAE47751	(Get FASTA)	NCBI Sequence Viewer
	CAH18315	(Get FASTA)	NCBI Sequence Viewer
	CCQ43614	(Get FASTA)	NCBI Sequence Viewer
	EAW73664	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000274030
	ENSP00000409906
	ENSP00000409906.1
	ENSP00000509357
	ENSP00000509606
	ENSP00000509606.1
GenBank Protein	Q70EK8	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_061923 ⟸ NM_019050
- Peptide Label:	isoform 1
- UniProtKB:	Q8WVQ5 (UniProtKB/Swiss-Prot), Q68DA5 (UniProtKB/Swiss-Prot), Q9P2J7 (UniProtKB/Swiss-Prot), Q70EK8 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MAWVKFLRKPGGNLGKVYQPGSMLSLAPTKGLLNEPGQNSCFLNSAVQVLWQLDIFRRSLRVLTGHVCQGDACIFCALKTIFAQFQHSREKALPSDNIRHALAESFKDEQRFQLGLMDDAAECFENML ERIHFHIVPSRDADMCTSKSCITHQKFAMTLYEQCVCRSCGASSDPLPFTEFVRYISTTALCNEVERMLERHERFKPEMFAELLQAANTTDDYRKCPSNCGQKIKIRRVLMNCPEIVTIGLVWDSEHS DLTEAVVRNLATHLYLPGLFYRVTDENAKNSELNLVGMICYTSQHYCAFAFHTKSSKWVFFDDANVKEIGTRWKDVVSKCIRCHFQPLLLFYANPDGTAVSTEDALRQVISWSHYKSVAENMGCEKPV IHKSDNLKENGFGDQAKQRENQKFPTDNISSSNRSHSHTGVGKGPAKLSHIDQREKIKDISRECALKAIEQKNLLSSQRKDLEKGQRKDLGRHRDLVDEDLSHFQSGSPPAPNGFKQHGNPHLYHSQG KGSYKHDRVVPQSRASAQIISSSKSQILAPGEKITGKVKSDNGTGYDTDSSQDSRDRGNSCDSSSKSRNRGWKPMRETLNVDSIFSESEKRQHSPRHKPNISNKPKSSKDPSFSNWPKENPKQKGLMT IYEDEMKQEIGSRSSLESNGKGAEKNKGLVEGKVHGDNWQMQRTESGYESSDHISNGSTNLDSPVIDGNGTVMDISGVKETVCFSDQITTSNLNKERGDCTSLQSQHHLEGFRKELRNLEAGYKSHEF HPESHLQIKNHLIKRSHVHEDNGKLFPSSSLQIPKDHNAREHIHQSDEQKLEKPNECKFSEWLNIENSERTGLPFHVDNSASGKRVNSNEPSSLWSSHLRTVGLKPETAPLIQQQNIMDQCYFENSLS TECIIRSASRSDGCQMPKLFCQNLPPPLPPKKYAITSVPQSEKSESTPDVKLTEVFKATSHLPKHSLSTASEPSLEVSTHMNDERHKETFQVRECFGNTPNCPSSSSTNDFQANSGAIDAFCQPELDS ISTCPNETVSLTTYFSVDSCMTDTYRLKYHQRPKLSFPESSGFCNNSLS hide sequence

RefSeq Acc Id:

XP_005263132 ⟸ XM_005263075

- Peptide Label:

isoform X2

- Sequence:

show sequence

MAWVKFLRKPGGNLGKVYQPGSMLSLAPTKGLLNEPGQNSCFLNSAVQVLWQLDIFRRSLRVLT
GHVCQGDACIFCALKTIFAQFQHSREKALPSDNIRHALAESFKDEQRFQLGLMDDAAECFENMLERIHFHIVPSRDADMCTSKSCITHQKFAMTLYEQCVCRSCGASSDPLPFTEFVRYISTTALCNE
VERMLERHERFKPEMFAELLQAANTTDDYRKCPSNCGQKIKIRRVLMNCPEIVTIGLVWDSEHSDLTEAVVRNLATHLYLPGIGTRWKDVVSKCIRCHFQPLLLFYANPDGTAVSTEDALRQVISWSH
YKSVAENMGCEKPVIHKSDNLKENGFGDQAKQRENQKFPTDNISSSNRSHSHTGVGKGPAKLSHIDQREKIKDISRECALKAIEQKNLLSSQRKDLEKGQRKDLGRHRDLVDEDLSHFQSGSPPAPNG
FKQHGNPHLYHSQGKGSYKHDRVVPQSRASAQIISSSKSQILAPGEKITGKVKSDNGTGYDTDSSQDSRDRGNSCDSSSKSRNRGWKPMRETLNVDSIFSESEKRQHSPRHKPNISNKPKSSKDPSFS
NWPKENPKQKGLMTIYEDEMKQEIGSRSSLESNGKGAEKNKGLVEGKVHGDNWQMQRTESGYESSDHISNGSTNLDSPVIDGNGTVMDISGVKETVCFSDQITTSNLNKERGDCTSLQSQHHLEGFRK
ELRNLEAGYKSHEFHPESHLQIKNHLIKRSHVHEDNGKLFPSSSLQIPKDHNAREHIHQSDEQKLEKPNECKFSEWLNIENSERTGLPFHVDNSASGKRVNSNEPSSLWSSHLRTVGLKPETAPLIQQ
QNIMDQCYFENSLSTECIIRSASRSDGCQMPKLFCQNLPPPLPPKKYAITSVPQSEKSESTPDVKLTEVFKATSHLPKHSLSTASEPSLEVSTHMNDERHKETFQVRECFGNTPNCPSSSSTNDFQAN
SGAIDAFCQPELDSISTCPNETVSLTTYFSVDSCMTDTYRLKYHQRPKLSFPESSGFCNNSLS

hide sequence

RefSeq Acc Id:	XP_005263134 ⟸ XM_005263077
- Peptide Label:	isoform X5
- UniProtKB:	A0A8J9FKG6 (UniProtKB/TrEMBL), A0A8I5KT61 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAWVKFLRKPGGNLGKVYQPGSMLSLAPTKGLLNEPGQNSCFLNSAVQVLWQLDIFRRSLRVLT GHVCQGDACIFCALKTIFAQFQHSREKALPSDNIRHALAESFKDEQRFQLGLMDDAAECFENMLERIHFHIVPSRDADMCTSKSCITHQKFAMTLYEQCVCRSCGASSDPLPFTEFVRYISTTALCNE VERMLERHERFKPEMFAELLQAANTTDDYRKCPSNCGQKIKIRRVLMNCPEIVTIGLVWDSEHSDLTEAVVRNLATHLYLPGLFYRVTDENAKNSELNLVGMICYTSQHYCAFAFHTKSSKWVFFDDA NVKEIGTRWKDVVSKCIRCHFQPLLLFYANPDGTAVSTEDALRQVISWSHYKSVAENMGCEKPVIHKSDNLKENGFGDQAKQRENQKFPTDNISSSNRSHSHTGVGKGPAKLSHIDQREKIKDISREC ALKAIEQKNLLSSQRKDLEKGQRKDLGRHRDLVDEDLSHFQSGSPPAPNGFKQHGNPHLYHSQGKGSYKHDRVVPQSRASAQIISSSKSQILAPGEKITGKVKSDNGTGYDTDSSQDSRDRGNSCDSS SKSRNRGWKPMRETLNVDSIFSESEKRQHSPRHKPNISNKPKSSKDPSFSNWPKENPKQKGLMTIYEDEMKQEIGSRSSLESNGKGAEKNKGLVEGKVHGDNWQMQRTESGYESSDHISNGSTNLDSP VIDGNGTVMDISGVKETVCFSDQITTSNLNKERGDCTSLQSQHHLEDHMYMKTMESYFLHPVYKYPRTIMQENISTSQMNRNLKNRMNANFLSGLI hide sequence

RefSeq Acc Id:	XP_011530339 ⟸ XM_011532037
- Peptide Label:	isoform X1
- UniProtKB:	Q8WVQ5 (UniProtKB/Swiss-Prot), Q68DA5 (UniProtKB/Swiss-Prot), Q9P2J7 (UniProtKB/Swiss-Prot), Q70EK8 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MAWVKFLRKPGGNLGKVYQPGSMLSLAPTKGLLNEPGQNSCFLNSAVQVLWQLDIFRRSLRVLTGHVCQGDACIFCALKTIFAQFQHSREKALPSDNIRHALAESFKDEQRFQLGLMDDAAECFENML ERIHFHIVPSRDADMCTSKSCITHQKFAMTLYEQCVCRSCGASSDPLPFTEFVRYISTTALCNEVERMLERHERFKPEMFAELLQAANTTDDYRKCPSNCGQKIKIRRVLMNCPEIVTIGLVWDSEHS DLTEAVVRNLATHLYLPGLFYRVTDENAKNSELNLVGMICYTSQHYCAFAFHTKSSKWVFFDDANVKEIGTRWKDVVSKCIRCHFQPLLLFYANPDGTAVSTEDALRQVISWSHYKSVAENMGCEKPV IHKSDNLKENGFGDQAKQRENQKFPTDNISSSNRSHSHTGVGKGPAKLSHIDQREKIKDISRECALKAIEQKNLLSSQRKDLEKGQRKDLGRHRDLVDEDLSHFQSGSPPAPNGFKQHGNPHLYHSQG KGSYKHDRVVPQSRASAQIISSSKSQILAPGEKITGKVKSDNGTGYDTDSSQDSRDRGNSCDSSSKSRNRGWKPMRETLNVDSIFSESEKRQHSPRHKPNISNKPKSSKDPSFSNWPKENPKQKGLMT IYEDEMKQEIGSRSSLESNGKGAEKNKGLVEGKVHGDNWQMQRTESGYESSDHISNGSTNLDSPVIDGNGTVMDISGVKETVCFSDQITTSNLNKERGDCTSLQSQHHLEGFRKELRNLEAGYKSHEF HPESHLQIKNHLIKRSHVHEDNGKLFPSSSLQIPKDHNAREHIHQSDEQKLEKPNECKFSEWLNIENSERTGLPFHVDNSASGKRVNSNEPSSLWSSHLRTVGLKPETAPLIQQQNIMDQCYFENSLS TECIIRSASRSDGCQMPKLFCQNLPPPLPPKKYAITSVPQSEKSESTPDVKLTEVFKATSHLPKHSLSTASEPSLEVSTHMNDERHKETFQVRECFGNTPNCPSSSSTNDFQANSGAIDAFCQPELDS ISTCPNETVSLTTYFSVDSCMTDTYRLKYHQRPKLSFPESSGFCNNSLS hide sequence

RefSeq Acc Id:	XP_016863802 ⟸ XM_017008313
- Peptide Label:	isoform X1
- UniProtKB:	Q8WVQ5 (UniProtKB/Swiss-Prot), Q68DA5 (UniProtKB/Swiss-Prot), Q9P2J7 (UniProtKB/Swiss-Prot), Q70EK8 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MAWVKFLRKPGGNLGKVYQPGSMLSLAPTKGLLNEPGQNSCFLNSAVQVLWQLDIFRRSLRVLT GHVCQGDACIFCALKTIFAQFQHSREKALPSDNIRHALAESFKDEQRFQLGLMDDAAECFENMLERIHFHIVPSRDADMCTSKSCITHQKFAMTLYEQCVCRSCGASSDPLPFTEFVRYISTTALCNE VERMLERHERFKPEMFAELLQAANTTDDYRKCPSNCGQKIKIRRVLMNCPEIVTIGLVWDSEHSDLTEAVVRNLATHLYLPGLFYRVTDENAKNSELNLVGMICYTSQHYCAFAFHTKSSKWVFFDDA NVKEIGTRWKDVVSKCIRCHFQPLLLFYANPDGTAVSTEDALRQVISWSHYKSVAENMGCEKPVIHKSDNLKENGFGDQAKQRENQKFPTDNISSSNRSHSHTGVGKGPAKLSHIDQREKIKDISREC ALKAIEQKNLLSSQRKDLEKGQRKDLGRHRDLVDEDLSHFQSGSPPAPNGFKQHGNPHLYHSQGKGSYKHDRVVPQSRASAQIISSSKSQILAPGEKITGKVKSDNGTGYDTDSSQDSRDRGNSCDSS SKSRNRGWKPMRETLNVDSIFSESEKRQHSPRHKPNISNKPKSSKDPSFSNWPKENPKQKGLMTIYEDEMKQEIGSRSSLESNGKGAEKNKGLVEGKVHGDNWQMQRTESGYESSDHISNGSTNLDSP VIDGNGTVMDISGVKETVCFSDQITTSNLNKERGDCTSLQSQHHLEGFRKELRNLEAGYKSHEFHPESHLQIKNHLIKRSHVHEDNGKLFPSSSLQIPKDHNAREHIHQSDEQKLEKPNECKFSEWLN IENSERTGLPFHVDNSASGKRVNSNEPSSLWSSHLRTVGLKPETAPLIQQQNIMDQCYFENSLSTECIIRSASRSDGCQMPKLFCQNLPPPLPPKKYAITSVPQSEKSESTPDVKLTEVFKATSHLPK HSLSTASEPSLEVSTHMNDERHKETFQVRECFGNTPNCPSSSSTNDFQANSGAIDAFCQPELDSISTCPNETVSLTTYFSVDSCMTDTYRLKYHQRPKLSFPESSGFCNNSLS hide sequence

Protein Domains

USP

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q70EK8-F1-model_v2	AlphaFold	Q70EK8	1-1073	view protein structure

RGD ID:

6868360

Promoter ID:

EPDNEW_H7345

Type:

initiation region

Name:

USP53_1

Description:

ubiquitin specific peptidase 53

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H7346

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	119,212,713 - 119,212,773	EPDNEW

RGD ID:

6868362

Promoter ID:

EPDNEW_H7346

Type:

initiation region

Name:

USP53_2

Description:

ubiquitin specific peptidase 53

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H7345

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	119,217,810 - 119,217,870	EPDNEW

RGD ID:

6802757

Promoter ID:

HG_KWN:48993

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid

Transcripts:

NM_019050, UC003ICR.2

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	4	120,352,331 - 120,353,447 (+)	MPROMDB

Database	Acc Id	Source(s)
COSMIC	USP53	COSMIC
Ensembl Genes	ENSG00000145390	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000274030	ENTREZGENE
	ENST00000450251	ENTREZGENE
	ENST00000450251.6	UniProtKB/Swiss-Prot
	ENST00000688980	ENTREZGENE
	ENST00000692078	ENTREZGENE
	ENST00000692078.1	UniProtKB/Swiss-Prot
Gene3D-CATH	Cysteine proteinases	UniProtKB/Swiss-Prot
GTEx	ENSG00000145390	GTEx
HGNC ID	HGNC:29255	ENTREZGENE
Human Proteome Map	USP53	Human Proteome Map
InterPro	Inactive_ubiquitin_hydrolase	UniProtKB/Swiss-Prot
	Papain-like_cys_pep_sf	UniProtKB/Swiss-Prot
	Peptidase_C19_UCH	UniProtKB/Swiss-Prot
	USP_dom	UniProtKB/Swiss-Prot
KEGG Report	hsa:54532	UniProtKB/Swiss-Prot
NCBI Gene	54532	ENTREZGENE
OMIM	617431	OMIM
PANTHER	PTHR22975:SF6	UniProtKB/Swiss-Prot
	UBIQUITIN SPECIFIC PROTEINASE	UniProtKB/Swiss-Prot
Pfam	UCH	UniProtKB/Swiss-Prot
PharmGKB	PA134940368	PharmGKB
PROSITE	USP_3	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF54001	UniProtKB/Swiss-Prot
UniProt	A0A8I5KT61	ENTREZGENE, UniProtKB/TrEMBL
	A0A8J9FKG6	ENTREZGENE, UniProtKB/TrEMBL
	D6RF54_HUMAN	UniProtKB/TrEMBL
	H0Y8Q1_HUMAN	UniProtKB/TrEMBL
	L8E8X6_HUMAN	UniProtKB/TrEMBL
	Q68DA5	ENTREZGENE
	Q70EK8	ENTREZGENE
	Q8WVQ5	ENTREZGENE
	Q9H9I0_HUMAN	UniProtKB/TrEMBL
	Q9P2J7	ENTREZGENE
	UBP53_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	Q68DA5	UniProtKB/Swiss-Prot
	Q8WVQ5	UniProtKB/Swiss-Prot
	Q9P2J7	UniProtKB/Swiss-Prot

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

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Imported Human Phenotype Annotations - HPO

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