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Gene: PRXL2B (peroxiredoxin like 2B) Homo sapiens

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Symbol:

PRXL2B

Name:

peroxiredoxin like 2B

RGD ID:

1603910

HGNC Page

HGNC:28390

Description:

Predicted to enable prostaglandin F synthase activity and thioredoxin peroxidase activity. Predicted to be involved in prostaglandin biosynthetic process. Located in extracellular exosome and mitochondrion.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

C1orf93; DKFZp547M123; FAM213B; family with sequence similarity 213 member B; family with sequence similarity 213, member B; hypothetical protein LOC127281; MGC26818; prostamide/PG F synthase; prostamide/PGF synthase; prostamide/prostaglandin F synthase; RP3-395M20.10; thioredoxin-type PGF synthase

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):	Prxl2b (peroxiredoxin like 2B)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OrthoDB, OrthoMCL, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Prxl2b (peroxiredoxin like 2B)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OrthoDB, OrthoMCL, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Prxl2b (peroxiredoxin like 2B)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	PRXL2B (peroxiredoxin like 2B)	NCBI	Ortholog
Canis lupus familiaris (dog):	PRXL2B (peroxiredoxin like 2B)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Prxl2b (peroxiredoxin like 2B)	NCBI	Ortholog
Sus scrofa (pig):	PRXL2B (peroxiredoxin like 2B)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Treefam
Chlorocebus sabaeus (green monkey):	PRXL2B (peroxiredoxin like 2B)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Prxl2b (peroxiredoxin like 2B)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Prxl2b (peroxiredoxin like 2B)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Mus musculus (house mouse):	Prxl2b (peroxiredoxin like 2B)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Danio rerio (zebrafish):	prxl2b	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid\|ZFIN)
Xenopus tropicalis (tropical clawed frog):	prxl2b	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	prxl2b.L	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	1	2,586,523 - 2,591,468 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	2,586,491 - 2,591,469 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	2,517,962 - 2,522,907 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	2,508,109 - 2,512,762 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	1	63,098 - 67,751 (-)	NCBI		Celera
Cytogenetic Map	1	p36.32	NCBI
HuRef	1	1,797,135 - 1,802,144 (+)	NCBI		HuRef
CHM1_1	1	2,504,978 - 2,509,987 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	2,028,168 - 2,033,113 (+)	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)
PRXL2B	Human	chromosome 1p36 deletion syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome	ClinVar
PRXL2B	Human	dilated cardiomyopathy 1LL		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Left ventricular noncompaction 8	ClinVar	PMID:28492532
PRXL2B	Human	Ehlers-Danlos syndrome spondylodysplastic type 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ehlers-Danlos syndrome more ...	ClinVar	PMID:10862081 more ...
PRXL2B	Human	Goldberg-Shprintzen syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome	ClinVar	PMID:28492532
PRXL2B	Human	Goldberg-Shprintzen syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome	ClinVar	PMID:23892090 more ...
PRXL2B	Human	immunodeficiency 16		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency	ClinVar	PMID:10862081 more ...
PRXL2B	Human	immunodeficiency 38		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	ClinVar	PMID:10862081 more ...
PRXL2B	Human	Joubert syndrome 25		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Joubert syndrome 25	ClinVar	PMID:10862081 more ...
PRXL2B	Human	Neurodevelopmental Disorders		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Neurodevelopmental disorder	ClinVar	PMID:25741868
PRXL2B	Human	Peroxisome Biogenesis Disorder, Complementation Group 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Peroxisome biogenesis disorder and complementation group 7	ClinVar	PMID:10862081 more ...
PRXL2B	Human	Shprintzen-Goldberg Craniosynostosis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome	ClinVar	PMID:28492532
PRXL2B	Human	Shprintzen-Goldberg Craniosynostosis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome	ClinVar	PMID:23892090 more ...

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PRXL2B	Human	pneumoconiosis		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:35506645

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PRXL2B	Human	(1->4)-beta-D-glucan	multiple interactions	ISO	Prxl2b (Mus musculus)	6480464	[perfluorooctane sulfonic acid co-treated with Cellulose] results in increased expression of PRXL2B mRNA	CTD	PMID:36331819
PRXL2B	Human	1,1-dichloroethene	decreases expression	ISO	Prxl2b (Mus musculus)	6480464	vinylidene chloride results in decreased expression of PRXL2B mRNA	CTD	PMID:26682919
PRXL2B	Human	17beta-estradiol	increases expression	ISO	Prxl2b (Rattus norvegicus)	6480464	Estradiol results in increased expression of PRXL2B mRNA	CTD	PMID:32145629
PRXL2B	Human	2,2',4,4'-Tetrabromodiphenyl ether	affects expression	ISO	Prxl2b (Mus musculus)	6480464	2 more ...	CTD	PMID:30294300
PRXL2B	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	Prxl2b (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in decreased expression of PRXL2B mRNA	CTD	PMID:21215274
PRXL2B	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	Prxl2b (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in increased expression of PRXL2B mRNA	CTD	PMID:33387578
PRXL2B	Human	2,4-dibromophenyl 2,4,5-tribromophenyl ether	affects expression	ISO	Prxl2b (Mus musculus)	6480464	2 more ...	CTD	PMID:38648751
PRXL2B	Human	2-palmitoylglycerol	increases expression	EXP		6480464	2-palmitoylglycerol results in increased expression of PRXL2B mRNA	CTD	PMID:37199045
PRXL2B	Human	3-chloropropane-1,2-diol	increases expression	ISO	Prxl2b (Rattus norvegicus)	6480464	alpha-Chlorohydrin results in increased expression of PRXL2B mRNA	CTD	PMID:28522335
PRXL2B	Human	4,4'-sulfonyldiphenol	increases expression	ISO	Prxl2b (Mus musculus)	6480464	bisphenol S results in increased expression of PRXL2B mRNA	CTD	PMID:39298647
PRXL2B	Human	4-hydroxyphenyl retinamide	decreases expression	ISO	Prxl2b (Mus musculus)	6480464	Fenretinide results in decreased expression of PRXL2B mRNA	CTD	PMID:28973697
PRXL2B	Human	acetamide	decreases expression	ISO	Prxl2b (Rattus norvegicus)	6480464	acetamide results in decreased expression of PRXL2B mRNA	CTD	PMID:31881176
PRXL2B	Human	acrolein	multiple interactions	EXP		6480464	[Acrolein co-treated with methacrylaldehyde co-treated with alpha-pinene co-treated with Ozone] results in decreased expression of and results in increased oxidation of PRXL2B mRNA and [Air Pollutants results in increased abundance of [Acrolein co-treated with methacrylaldehyde co-treated with alpha-pinene co-treated with Ozone]] which results in decreased expression of and results in increased oxidation of PRXL2B mRNA	CTD	PMID:32699268
PRXL2B	Human	acrylamide	increases expression	ISO	Prxl2b (Rattus norvegicus)	6480464	Acrylamide results in increased expression of PRXL2B mRNA	CTD	PMID:28959563
PRXL2B	Human	aflatoxin B1	affects expression	EXP		6480464	Aflatoxin B1 affects the expression of PRXL2B protein	CTD	PMID:20106945
PRXL2B	Human	alpha-pinene	multiple interactions	EXP		6480464	[Acrolein co-treated with methacrylaldehyde co-treated with alpha-pinene co-treated with Ozone] results in decreased expression of and results in increased oxidation of PRXL2B mRNA and [Air Pollutants results in increased abundance of [Acrolein co-treated with methacrylaldehyde co-treated with alpha-pinene co-treated with Ozone]] which results in decreased expression of and results in increased oxidation of PRXL2B mRNA	CTD	PMID:32699268
PRXL2B	Human	alpha-Zearalanol	multiple interactions	ISO	Prxl2b (Rattus norvegicus)	6480464	[Zeranol co-treated with perfluorooctanoic acid] results in increased expression of PRXL2B mRNA	CTD	PMID:35163327
PRXL2B	Human	aristolochic acid A	decreases expression	ISO	Prxl2b (Rattus norvegicus)	6480464	aristolochic acid I results in decreased expression of PRXL2B mRNA	CTD	PMID:36863539
PRXL2B	Human	arsenous acid	decreases expression	EXP		6480464	Arsenic Trioxide results in decreased expression of PRXL2B mRNA	CTD	PMID:24356939
PRXL2B	Human	atrazine	decreases expression	EXP		6480464	Atrazine results in decreased expression of PRXL2B mRNA	CTD	PMID:22378314
PRXL2B	Human	Azoxymethane	multiple interactions	ISO	Prxl2b (Mus musculus)	6480464	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of PRXL2B mRNA	CTD	PMID:29950665
PRXL2B	Human	bisphenol A	decreases expression	ISO	Prxl2b (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of PRXL2B mRNA	CTD	PMID:25181051
PRXL2B	Human	bisphenol A	increases expression	ISO	Prxl2b (Mus musculus)	6480464	bisphenol A results in increased expression of PRXL2B mRNA	CTD	PMID:33221593
PRXL2B	Human	bisphenol A	decreases expression	ISO	Prxl2b (Mus musculus)	6480464	bisphenol A results in decreased expression of PRXL2B mRNA	CTD	PMID:34585602 and PMID:35598803
PRXL2B	Human	bisphenol A	increases expression	ISO	Prxl2b (Rattus norvegicus)	6480464	bisphenol A results in increased expression of PRXL2B mRNA	CTD	PMID:32145629
PRXL2B	Human	cadmium atom	multiple interactions	ISO	Prxl2b (Mus musculus)	6480464	[Tetradecanoylphorbol Acetate co-treated with [Cadmium Chloride results in increased abundance of Cadmium]] affects the expression of PRXL2B mRNA	CTD	PMID:31904401
PRXL2B	Human	cadmium atom	multiple interactions	EXP		6480464	[Cadmium Chloride results in increased abundance of Cadmium] which results in decreased expression of PRXL2B mRNA	CTD	PMID:35301059
PRXL2B	Human	cadmium dichloride	multiple interactions	ISO	Prxl2b (Mus musculus)	6480464	[Tetradecanoylphorbol Acetate co-treated with [Cadmium Chloride results in increased abundance of Cadmium]] affects the expression of PRXL2B mRNA	CTD	PMID:31904401
PRXL2B	Human	cadmium dichloride	multiple interactions	EXP		6480464	[Cadmium Chloride results in increased abundance of Cadmium] which results in decreased expression of PRXL2B mRNA	CTD	PMID:35301059
PRXL2B	Human	cannabidiol	decreases expression	EXP		6480464	Cannabidiol results in decreased expression of PRXL2B mRNA	CTD	PMID:33244087
PRXL2B	Human	cantharidin	decreases expression	ISO	Prxl2b (Mus musculus)	6480464	Cantharidin results in decreased expression of PRXL2B mRNA	CTD	PMID:36907384
PRXL2B	Human	carbon nanotube	decreases expression	ISO	Prxl2b (Mus musculus)	6480464	Nanotubes and Carbon results in decreased expression of PRXL2B mRNA	CTD	PMID:25620056
PRXL2B	Human	clothianidin	decreases expression	EXP		6480464	clothianidin results in decreased expression of PRXL2B mRNA	CTD	PMID:31626844
PRXL2B	Human	copper atom	multiple interactions	EXP		6480464	[NSC 689534 binds to Copper] which results in decreased expression of PRXL2B mRNA	CTD	PMID:20971185
PRXL2B	Human	copper(0)	multiple interactions	EXP		6480464	[NSC 689534 binds to Copper] which results in decreased expression of PRXL2B mRNA	CTD	PMID:20971185
PRXL2B	Human	cyclosporin A	decreases expression	EXP		6480464	Cyclosporine results in decreased expression of PRXL2B mRNA	CTD	PMID:20106945 more ...
PRXL2B	Human	cyclosporin A	decreases methylation	EXP		6480464	Cyclosporine results in decreased methylation of PRXL2B promoter	CTD	PMID:27989131
PRXL2B	Human	dextran sulfate	multiple interactions	ISO	Prxl2b (Mus musculus)	6480464	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of PRXL2B mRNA	CTD	PMID:29950665
PRXL2B	Human	diarsenic trioxide	decreases expression	EXP		6480464	Arsenic Trioxide results in decreased expression of PRXL2B mRNA	CTD	PMID:24356939
PRXL2B	Human	diazinon	decreases expression	EXP		6480464	Diazinon results in decreased expression of PRXL2B mRNA	CTD	PMID:24356939
PRXL2B	Human	Dibutyl phosphate	affects expression	EXP		6480464	di-n-butylphosphoric acid affects the expression of PRXL2B mRNA	CTD	PMID:37042841
PRXL2B	Human	diquat	increases expression	ISO	Prxl2b (Mus musculus)	6480464	Diquat results in increased expression of PRXL2B mRNA	CTD	PMID:36851058
PRXL2B	Human	doxorubicin	decreases expression	EXP		6480464	Doxorubicin results in decreased expression of PRXL2B mRNA	CTD	PMID:29803840
PRXL2B	Human	gamma-hexachlorocyclohexane	decreases expression	EXP		6480464	Hexachlorocyclohexane results in decreased expression of PRXL2B mRNA	CTD	PMID:24356939
PRXL2B	Human	gentamycin	decreases expression	ISO	Prxl2b (Rattus norvegicus)	6480464	Gentamicins results in decreased expression of PRXL2B mRNA	CTD	PMID:33387578
PRXL2B	Human	glafenine	increases expression	ISO	Prxl2b (Rattus norvegicus)	6480464	Glafenine results in increased expression of PRXL2B mRNA	CTD	PMID:24136188
PRXL2B	Human	inulin	multiple interactions	ISO	Prxl2b (Mus musculus)	6480464	[perfluorooctane sulfonic acid co-treated with Inulin] results in increased expression of PRXL2B mRNA	CTD	PMID:36331819
PRXL2B	Human	levofloxacin	increases expression	ISO	Prxl2b (Rattus norvegicus)	6480464	Levofloxacin results in increased expression of PRXL2B mRNA	CTD	PMID:24136188
PRXL2B	Human	nefazodone	decreases expression	ISO	Prxl2b (Rattus norvegicus)	6480464	nefazodone results in decreased expression of PRXL2B mRNA	CTD	PMID:24136188
PRXL2B	Human	nitrofen	increases expression	ISO	Prxl2b (Rattus norvegicus)	6480464	nitrofen results in increased expression of PRXL2B mRNA	CTD	PMID:26720608
PRXL2B	Human	ozone	multiple interactions	EXP		6480464	[Acrolein co-treated with methacrylaldehyde co-treated with alpha-pinene co-treated with Ozone] results in decreased expression of and results in increased oxidation of PRXL2B mRNA more ...	CTD	PMID:32699268
PRXL2B	Human	p-toluidine	increases expression	ISO	Prxl2b (Rattus norvegicus)	6480464	4-toluidine results in increased expression of PRXL2B mRNA	CTD	PMID:27638505
PRXL2B	Human	paracetamol	increases expression	ISO	Prxl2b (Rattus norvegicus)	6480464	Acetaminophen results in increased expression of PRXL2B mRNA	CTD	PMID:33387578
PRXL2B	Human	perfluorooctane-1-sulfonic acid	multiple interactions	ISO	Prxl2b (Mus musculus)	6480464	[perfluorooctane sulfonic acid co-treated with Cellulose] results in increased expression of PRXL2B mRNA and [perfluorooctane sulfonic acid co-treated with Inulin] results in increased expression of PRXL2B mRNA	CTD	PMID:36331819
PRXL2B	Human	perfluorooctanoic acid	multiple interactions	ISO	Prxl2b (Rattus norvegicus)	6480464	[Zeranol co-treated with perfluorooctanoic acid] results in increased expression of PRXL2B mRNA	CTD	PMID:35163327
PRXL2B	Human	phorbol 13-acetate 12-myristate	multiple interactions	ISO	Prxl2b (Mus musculus)	6480464	[Tetradecanoylphorbol Acetate co-treated with [Cadmium Chloride results in increased abundance of Cadmium]] affects the expression of PRXL2B mRNA	CTD	PMID:31904401
PRXL2B	Human	pioglitazone	decreases expression	EXP		6480464	Pioglitazone results in decreased expression of PRXL2B mRNA	CTD	PMID:30031879
PRXL2B	Human	resveratrol	multiple interactions	EXP		6480464	[Plant Extracts co-treated with Resveratrol] results in decreased expression of PRXL2B mRNA	CTD	PMID:23557933
PRXL2B	Human	silicon dioxide	increases expression	ISO	Prxl2b (Rattus norvegicus)	6480464	Silicon Dioxide results in increased expression of PRXL2B mRNA	CTD	PMID:32721576
PRXL2B	Human	sodium arsenite	decreases expression	EXP		6480464	sodium arsenite results in decreased expression of PRXL2B mRNA	CTD	PMID:38568856
PRXL2B	Human	sodium arsenite	increases expression	EXP		6480464	sodium arsenite results in increased expression of PRXL2B mRNA	CTD	PMID:34032870
PRXL2B	Human	sodium fluoride	decreases expression	ISO	Prxl2b (Mus musculus)	6480464	Sodium Fluoride results in decreased expression of PRXL2B mRNA	CTD	PMID:27862939
PRXL2B	Human	sunitinib	decreases expression	EXP		6480464	Sunitinib results in decreased expression of PRXL2B mRNA	CTD	PMID:31533062
PRXL2B	Human	tetrachloromethane	decreases expression	ISO	Prxl2b (Rattus norvegicus)	6480464	Carbon Tetrachloride results in decreased expression of PRXL2B mRNA	CTD	PMID:31150632
PRXL2B	Human	tetrachloromethane	decreases expression	ISO	Prxl2b (Mus musculus)	6480464	Carbon Tetrachloride results in decreased expression of PRXL2B mRNA	CTD	PMID:31919559
PRXL2B	Human	thioacetamide	decreases expression	ISO	Prxl2b (Rattus norvegicus)	6480464	Thioacetamide results in decreased expression of PRXL2B mRNA	CTD	PMID:23411599 and PMID:34492290
PRXL2B	Human	thiram	decreases expression	EXP		6480464	Thiram results in decreased expression of PRXL2B mRNA	CTD	PMID:38568856
PRXL2B	Human	titanium dioxide	multiple interactions	ISO	Prxl2b (Mus musculus)	6480464	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of PRXL2B mRNA	CTD	PMID:29950665
PRXL2B	Human	toluene	decreases expression	ISO	Prxl2b (Rattus norvegicus)	6480464	Toluene results in decreased expression of PRXL2B mRNA	CTD	PMID:22967744
PRXL2B	Human	trichloroethene	increases expression	ISO	Prxl2b (Rattus norvegicus)	6480464	Trichloroethylene results in increased expression of PRXL2B mRNA	CTD	PMID:33387578
PRXL2B	Human	valproic acid	decreases expression	EXP		6480464	Valproic Acid results in decreased expression of PRXL2B mRNA	CTD	PMID:29154799
PRXL2B	Human	valproic acid	increases methylation	EXP		6480464	Valproic Acid results in increased methylation of PRXL2B gene	CTD	PMID:29154799
PRXL2B	Human	zoledronic acid	increases expression	EXP		6480464	zoledronic acid results in increased expression of PRXL2B mRNA	CTD	PMID:24714768

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)
PRXL2B	Human	fatty acid biosynthetic process	involved_in	IEA	UniProtKB-KW:KW-0275	150520179		UniProt	GO_REF:0000043
PRXL2B	Human	fatty acid metabolic process	involved_in	IEA	UniProtKB-KW:KW-0276	150520179		UniProt	GO_REF:0000043
PRXL2B	Human	lipid metabolic process	involved_in	IEA	UniProtKB-KW:KW-0443	150520179		UniProt	GO_REF:0000043
PRXL2B	Human	prostaglandin biosynthetic process	involved_in	IEA	UniProtKB-KW:KW-0643	150520179		UniProt	GO_REF:0000043
PRXL2B	Human	prostaglandin biosynthetic process	involved_in	IBA	MGI:1913719 more ...	150520179		GO_Central	GO_REF:0000033
PRXL2B	Human	prostaglandin biosynthetic process	involved_in	IEA	UniProtKB:Q9DB60 and ensembl:ENSMUSP00000030935	150520179		Ensembl	GO_REF:0000107
PRXL2B	Human	prostaglandin biosynthetic process	involved_in	ISS	UniProtKB:Q9DB60	150520179	PMID:18006499	UniProt	GO_REF:0000024 and PMID:18006499
PRXL2B	Human	prostaglandin metabolic process	involved_in	IEA	UniProtKB-KW:KW-0644	150520179		UniProt	GO_REF:0000043

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)
PRXL2B	Human	cytoplasm	located_in	IEA	UniProtKB-KW:KW-0963	150520179		UniProt	GO_REF:0000043
PRXL2B	Human	cytoplasm	NOT\|located_in	ISO	Prxl2b (Mus musculus)	9068941	PMID:20950588	UniProt	PMID:20950588
PRXL2B	Human	cytoplasm	is_active_in	IBA	MGI:1913719 more ...	150520179		GO_Central	GO_REF:0000033
PRXL2B	Human	cytoplasm	located_in	IEA	UniProtKB:Q9DB60 and ensembl:ENSMUSP00000030935	150520179		Ensembl	GO_REF:0000107
PRXL2B	Human	cytoplasm	located_in	ISS	UniProtKB:Q9DB60	150520179	PMID:18006499	CAFA	PMID:18006499
PRXL2B	Human	cytosol	located_in	IEA	UniProtKB-SubCell:SL-0091	150520179		UniProt	GO_REF:0000044
PRXL2B	Human	cytosol	located_in	IEA	UniProtKB:Q9DB60 and ensembl:ENSMUSP00000030935	150520179		Ensembl	GO_REF:0000107
PRXL2B	Human	endoplasmic reticulum	located_in	IEA	UniProtKB:Q9DB60 and ensembl:ENSMUSP00000030935	150520179		Ensembl	GO_REF:0000107
PRXL2B	Human	endoplasmic reticulum	located_in	ISS	UniProtKB:Q9DB60	150520179	PMID:18006499	CAFA	PMID:18006499
PRXL2B	Human	extracellular exosome	located_in	HDA		150520179	PMID:19056867	UniProt	PMID:19056867
PRXL2B	Human	mitochondrion	located_in	HTP		150520179	PMID:34800366	FlyBase	PMID:34800366
PRXL2B	Human	myelin sheath	located_in	ISS	UniProtKB:Q9DB60	150520179	PMID:18006499	CAFA	PMID:18006499
PRXL2B	Human	myelin sheath	located_in	IEA	UniProtKB:Q9DB60 and ensembl:ENSMUSP00000030935	150520179		Ensembl	GO_REF:0000107

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)
PRXL2B	Human	oxidoreductase activity	enables	IEA	UniProtKB-KW:KW-0560	150520179		UniProt	GO_REF:0000043
PRXL2B	Human	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	enables	IEA	UniProtKB:Q9DB60 and ensembl:ENSMUSP00000030935	150520179		Ensembl	GO_REF:0000107
PRXL2B	Human	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	enables	ISS	UniProtKB:Q9DB60	150520179	PMID:18006499	UniProt	GO_REF:0000024 and PMID:18006499
PRXL2B	Human	prostaglandin F synthase activity	enables	ISS	UniProtKB:Q9DB60	150520179	PMID:18006499	CAFA	PMID:18006499
PRXL2B	Human	prostaglandin F synthase activity	enables	IBA	MGI:1913719 more ...	150520179		GO_Central	GO_REF:0000033
PRXL2B	Human	prostaglandin F synthase activity	enables	IEA	UniProtKB:Q9DB60 and ensembl:ENSMUSP00000030935	150520179		Ensembl	GO_REF:0000107
PRXL2B	Human	protein binding	enables	IPI	UniProtKB:Q9NUJ3 and UniProtKB:Q9UNS2	150520179	PMID:32296183	IntAct	PMID:32296183
PRXL2B	Human	thioredoxin peroxidase activity	enables	ISO	Prxl2b (Mus musculus)	9068941	PMID:18006499 and PMID:20950588	Reactome	PMID:18006499 and PMID:20950588

RGD Manual Annotations

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PRXL2B	Human	prostaglandin biosynthetic pathway		ISO	Prxl2b (Mus musculus)	8552775		RGD

Imported Annotations - SMPDB

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PRXL2B	Human	acetylsalicylic acid pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00083
PRXL2B	Human	antipyrine drug pathway		EXP		10402751		SMPDB	SMP:00692
PRXL2B	Human	arachidonic acid metabolic pathway		EXP		10402751		SMPDB	SMP:00075
PRXL2B	Human	celecoxib pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00096
PRXL2B	Human	diclofenac pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00093
PRXL2B	Human	diflunisal pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00289
PRXL2B	Human	etodolac pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00084
PRXL2B	Human	fenoprofen pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00696
PRXL2B	Human	flurbiprofen pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00697
PRXL2B	Human	ibuprofen pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00086
PRXL2B	Human	indometacin pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00104
PRXL2B	Human	indometacin pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00104
PRXL2B	Human	ketoprofen pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00085
PRXL2B	Human	ketorolac pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00098
PRXL2B	Human	leukotriene C4 synthase deficiency pathway		EXP		10402751		SMPDB	SMP:00353
PRXL2B	Human	lornoxicam pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00700
PRXL2B	Human	magnesium salicylate pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00698
PRXL2B	Human	mefenamic acid pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00109
PRXL2B	Human	meloxicam pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00106
PRXL2B	Human	nabumetone pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00114
PRXL2B	Human	naproxen pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00120
PRXL2B	Human	paracetamol drug pathway		EXP		10402751		SMPDB	SMP:00710
PRXL2B	Human	piroxicam pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00077
PRXL2B	Human	salicylic acid pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00709
PRXL2B	Human	sodium salicylate pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00708
PRXL2B	Human	sulindac pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00094
PRXL2B	Human	tenoxicam pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00706
PRXL2B	Human	tiaprofenic acid pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00705
PRXL2B	Human	tolmetin pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00704
PRXL2B	Human	valdecoxib pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00116

#	Reference Title	Reference Citation
1.	Molecular characterization of a novel type of prostamide/prostaglandin F synthase, belonging to the thioredoxin-like superfamily.	Moriuchi H, etal., J Biol Chem. 2008 Jan 11;283(2):792-801. Epub 2007 Nov 15.
2.	SMPDB Annotation Import Pipeline	Pipeline to import SMPDB annotations from SMPDB into RGD
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:8889548	PMID:12477932	PMID:14702039	PMID:14710190	PMID:16344560	PMID:18029348	PMID:19056867	PMID:20950588	PMID:21297633	PMID:21873635	PMID:21900206	PMID:23376485
PMID:26186194	PMID:28514442	PMID:31586073	PMID:32296183	PMID:33001583	PMID:33961781	PMID:34800366	PMID:35831314

PRXL2B
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	2,586,523 - 2,591,468 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	2,586,491 - 2,591,469 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	2,517,962 - 2,522,907 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	2,508,109 - 2,512,762 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	1	63,098 - 67,751 (-)	NCBI		Celera
Cytogenetic Map	1	p36.32	NCBI
HuRef	1	1,797,135 - 1,802,144 (+)	NCBI		HuRef
CHM1_1	1	2,504,978 - 2,509,987 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	2,028,168 - 2,033,113 (+)	NCBI		T2T-CHM13v2.0

Prxl2b
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	154,980,884 - 154,983,522 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	4	154,979,961 - 154,983,592 (-)	Ensembl		GRCm39 Ensembl
GRCm38	4	154,896,430 - 154,899,043 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	154,895,504 - 154,899,135 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	154,270,539 - 154,273,152 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	4	153,740,230 - 153,742,843 (-)	NCBI		MGSCv36	mm8
Celera	4	157,167,936 - 157,170,549 (-)	NCBI		Celera
Cytogenetic Map	4	E2	NCBI
cM Map	4	85.67	NCBI

Prxl2b
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	5	170,744,953 - 170,747,556 (-)	NCBI		GRCr8
mRatBN7.2	5	165,462,610 - 165,465,213 (-)	NCBI	mRatBN7.2	mRatBN7.2
UTH_Rnor_SHR_Utx	5	168,167,749 - 168,170,352 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	5	169,989,159 - 169,991,762 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	5	169,951,697 - 169,954,300 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	5	172,304,799 - 172,307,402 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	5	172,304,758 - 172,307,431 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	5	175,760,762 - 175,763,365 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	171,704,247 - 171,706,850 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	5	171,714,741 - 171,717,325 (-)	NCBI
Celera	5	163,669,128 - 163,671,731 (-)	NCBI		Celera
Cytogenetic Map	5	q36	NCBI

Prxl2b
(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_004955486	8,663,595 - 8,666,469 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955486	8,663,708 - 8,666,369 (-)	NCBI	ChiLan1.0	ChiLan1.0

PRXL2B
(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	1	225,656,040 - 225,660,727 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	224,316,576 - 224,321,263 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	1,319,718 - 1,324,409 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	2,457,130 - 2,463,858 (+)	NCBI	panpan1.1	PanPan1.1	panPan2

PRXL2B
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	5	57,429,973 - 57,434,371 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	5	57,429,212 - 57,434,210 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	5	57,443,767 - 57,448,116 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	5	57,634,086 - 57,638,435 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	5	57,633,826 - 57,638,507 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	5	57,625,412 - 57,629,761 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	5	57,517,700 - 57,522,050 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	5	57,907,472 - 57,911,821 (+)	NCBI		UU_Cfam_GSD_1.0

Prxl2b
(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_024405058	28,465,190 - 28,467,637 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936737	998,186 - 1,000,764 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936737	998,313 - 1,000,757 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PRXL2B
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	64,432,148 - 64,435,320 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	64,432,187 - 64,435,328 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	58,856,668 - 58,859,809 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PRXL2B
(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	20	128,964,750 - 128,969,469 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	20	128,964,987 - 128,967,620 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666054	33,307,985 - 33,311,032 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Prxl2b
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624818	7,483,001 - 7,485,431 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624818	7,478,680 - 7,485,431 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in PRXL2B
33 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh37/hg19 1q21.2(chr1:149041013-149699420)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050339]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050339]\|See cases [RCV000050339]	Chr1:149041013..149699420 [GRCh37] Chr1:1q21.2	benign
GRCh38/hg38 1p36.33-36.32(chr1:844347-3006252)x1	copy number loss	See cases [RCV000050857]	Chr1:844347..3006252 [GRCh38] Chr1:779727..2922816 [GRCh37] Chr1:769590..2912676 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-3712147)x1	copy number loss	See cases [RCV000050882]	Chr1:844347..3712147 [GRCh38] Chr1:779727..3628711 [GRCh37] Chr1:769590..3618571 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5682587)x1	copy number loss	See cases [RCV000050642]	Chr1:844347..5682587 [GRCh38] Chr1:779727..5742647 [GRCh37] Chr1:769590..5665234 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-3319395)x1	copy number loss	See cases [RCV000050647]	Chr1:844347..3319395 [GRCh38] Chr1:779727..3235959 [GRCh37] Chr1:769590..3225819 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1	copy number loss	See cases [RCV000050752]	Chr1:844347..2627474 [GRCh38] Chr1:779727..2558913 [GRCh37] Chr1:769590..2548773 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1	copy number loss	See cases [RCV000051143]	Chr1:844347..6477436 [GRCh38] Chr1:779727..6537496 [GRCh37] Chr1:769590..6460083 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3	copy number gain	See cases [RCV000051779]	Chr1:792758..5006311 [GRCh38] Chr1:728138..5066371 [GRCh37] Chr1:718001..4966231 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:826553-4719105)x3	copy number gain	See cases [RCV000051780]	Chr1:826553..4719105 [GRCh38] Chr1:761933..4779165 [GRCh37] Chr1:751796..4679025 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6231924)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051782]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051782]\|See cases [RCV000051782]	Chr1:844347..6231924 [GRCh38] Chr1:779727..6291984 [GRCh37] Chr1:769590..6214571 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	copy number loss	See cases [RCV000052045]	Chr1:859215..8747647 [GRCh38] Chr1:794595..8807706 [GRCh37] Chr1:784458..8730293 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:870177-4426613)x1	copy number loss	See cases [RCV000052063]	Chr1:870177..4426613 [GRCh38] Chr1:805557..4486673 [GRCh37] Chr1:795420..4386533 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-3054463)x1	copy number loss	See cases [RCV000052065]	Chr1:872305..3054463 [GRCh38] Chr1:807685..2971027 [GRCh37] Chr1:797548..2960887 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-4133409)x1	copy number loss	See cases [RCV000052066]	Chr1:872305..4133409 [GRCh38] Chr1:807685..4193469 [GRCh37] Chr1:797548..4093329 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x3	copy number gain	See cases [RCV000052067]	Chr1:872305..2642603 [GRCh38] Chr1:807685..2574042 [GRCh37] Chr1:797548..2563902 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	copy number loss	See cases [RCV000051993]	Chr1:629025..8537745 [GRCh38] Chr1:564405..8597804 [GRCh37] Chr1:554268..8520391 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x1	copy number loss	See cases [RCV000052068]	Chr1:872305..2642603 [GRCh38] Chr1:807685..2574042 [GRCh37] Chr1:797548..2563902 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1084373-3367776)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052069]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052069]\|See cases [RCV000052069]	Chr1:1084373..3367776 [GRCh38] Chr1:1019753..3284340 [GRCh37] Chr1:1009616..3274200 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:629044-3346226)x1	copy number loss	See cases [RCV000051994]	Chr1:629044..3346226 [GRCh38] Chr1:564424..3262790 [GRCh37] Chr1:554287..3252650 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	copy number loss	See cases [RCV000051995]	Chr1:629044..7008678 [GRCh38] Chr1:564424..7068738 [GRCh37] Chr1:554287..6991325 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:1181847-5507243)x1	copy number loss	See cases [RCV000052070]	Chr1:1181847..5507243 [GRCh38] Chr1:1117227..5567303 [GRCh37] Chr1:1107090..5489890 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1482278-3152536)x1	copy number loss	See cases [RCV000052071]	Chr1:1482278..3152536 [GRCh38] Chr1:1417658..3069100 [GRCh37] Chr1:1407521..3058960 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-4155674)x1	copy number loss	See cases [RCV000051996]	Chr1:821713..4155674 [GRCh38] Chr1:757093..4215734 [GRCh37] Chr1:746956..4115594 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844147-5970026)x1	copy number loss	See cases [RCV000052014]	Chr1:844147..5970026 [GRCh38] Chr1:779527..6030086 [GRCh37] Chr1:769390..5952673 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844147-5827203)x1	copy number loss	See cases [RCV000052015]	Chr1:844147..5827203 [GRCh38] Chr1:779527..5887263 [GRCh37] Chr1:769390..5809850 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844147-2963530)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052016]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052016]\|See cases [RCV000052016]	Chr1:844147..2963530 [GRCh38] Chr1:779527..2880095 [GRCh37] Chr1:769390..2869955 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844147-4598532)x1	copy number loss	See cases [RCV000052017]	Chr1:844147..4598532 [GRCh38] Chr1:779527..4658592 [GRCh37] Chr1:769390..4558452 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844147-5020772)x1	copy number loss	See cases [RCV000052018]	Chr1:844147..5020772 [GRCh38] Chr1:779527..5080832 [GRCh37] Chr1:769390..4980692 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5363885)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052037]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052037]\|See cases [RCV000052037]	Chr1:844347..5363885 [GRCh38] Chr1:779727..5423945 [GRCh37] Chr1:769590..5323805 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-10809098)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]\|See cases [RCV000052038]	Chr1:844347..10809098 [GRCh38] Chr1:779727..10869155 [GRCh37] Chr1:769590..10791742 [NCBI36] Chr1:1p36.33-36.22	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5431639)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052039]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052039]\|See cases [RCV000052039]	Chr1:844347..5431639 [GRCh38] Chr1:779727..5491699 [GRCh37] Chr1:769590..5414286 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-4665295)x1	copy number loss	See cases [RCV000052040]	Chr1:844347..4665295 [GRCh38] Chr1:779727..4725355 [GRCh37] Chr1:769590..4625215 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:844347-7151129)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052042]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052042]\|See cases [RCV000052042]	Chr1:844347..7151129 [GRCh38] Chr1:779727..7211189 [GRCh37] Chr1:769590..7133776 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1q21.1(chr1:145601946-146009630)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053582]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053582]\|See cases [RCV000053582]	Chr1:145601946..146009630 [GRCh38] Chr1:145425395..145987215 [GRCh37] Chr1:1q21.1	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:911300-3614487)x3	copy number gain	See cases [RCV000133658]	Chr1:911300..3614487 [GRCh38] Chr1:846680..3531051 [GRCh37] Chr1:836543..3520911 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.32(chr1:2563698-2689265)x3	copy number gain	See cases [RCV000134197]	Chr1:2563698..2689265 [GRCh38] Chr1:2495137..2620704 [GRCh37] Chr1:2488932..2610564 [NCBI36] Chr1:1p36.32	benign
GRCh38/hg38 1p36.33-36.32(chr1:1118636-4179080)x1	copy number loss	See cases [RCV000134211]	Chr1:1118636..4179080 [GRCh38] Chr1:1054016..4239140 [GRCh37] Chr1:1043879..4139000 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844353-3487877)x1	copy number loss	See cases [RCV000134747]	Chr1:844353..3487877 [GRCh38] Chr1:779733..3404441 [GRCh37] Chr1:769596..3394301 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844353-5827192)x3	copy number gain	See cases [RCV000134750]	Chr1:844353..5827192 [GRCh38] Chr1:779733..5887252 [GRCh37] Chr1:769596..5809839 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1	copy number loss	See cases [RCV000133943]	Chr1:844347..6916587 [GRCh38] Chr1:779727..6976647 [GRCh37] Chr1:769590..6899234 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-4398122)x1	copy number loss	See cases [RCV000134137]	Chr1:844347..4398122 [GRCh38] Chr1:779727..4458182 [GRCh37] Chr1:769590..4358042 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	copy number loss	See cases [RCV000136554]	Chr1:844347..8171914 [GRCh38] Chr1:779727..8231974 [GRCh37] Chr1:769590..8154561 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:874379-4973261)x1	copy number loss	See cases [RCV000136715]	Chr1:874379..4973261 [GRCh38] Chr1:809759..5033321 [GRCh37] Chr1:799622..4933181 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	copy number loss	See cases [RCV000136695]	Chr1:844347..12470133 [GRCh38] Chr1:779727..12530188 [GRCh37] Chr1:769590..12452775 [NCBI36] Chr1:1p36.33-36.22	pathogenic\|likely pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1022094-4665295)x1	copy number loss	See cases [RCV000137380]	Chr1:1022094..4665295 [GRCh38] Chr1:957474..4725355 [GRCh37] Chr1:947337..4625215 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-3569891)x1	copy number loss	See cases [RCV000138225]	Chr1:821713..3569891 [GRCh38] Chr1:757093..3486455 [GRCh37] Chr1:746956..3476315 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-3928354)x3	copy number gain	See cases [RCV000138165]	Chr1:821713..3928354 [GRCh38] Chr1:757093..3823583 [GRCh37] Chr1:746956..3834778 [NCBI36] Chr1:1p36.33-36.32	likely pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-5239643)x1	copy number loss	See cases [RCV000137978]	Chr1:821713..5239643 [GRCh38] Chr1:757093..5299703 [GRCh37] Chr1:746956..5199563 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844353-3153909)x1	copy number loss	See cases [RCV000138704]	Chr1:844353..3153909 [GRCh38] Chr1:779733..3070473 [GRCh37] Chr1:769596..3060333 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1072906-2806838)x1	copy number loss	See cases [RCV000138883]	Chr1:1072906..2806838 [GRCh38] Chr1:1008286..2723403 [GRCh37] Chr1:998149..2713263 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1	copy number loss	See cases [RCV000139404]	Chr1:844353..6477474 [GRCh38] Chr1:779733..6537534 [GRCh37] Chr1:769596..6460121 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1756301-3649513)x4	copy number gain	See cases [RCV000138951]	Chr1:1756301..3649513 [GRCh38] Chr1:1687740..3566077 [GRCh37] Chr1:1677600..3555937 [NCBI36] Chr1:1p36.33-36.32	uncertain significance
GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	copy number loss	See cases [RCV000138896]	Chr1:821713..7000838 [GRCh38] Chr1:757093..7060898 [GRCh37] Chr1:746956..6983485 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:778698-4898439)x1	copy number loss	See cases [RCV000140164]	Chr1:778698..4898439 [GRCh38] Chr1:714078..4958499 [GRCh37] Chr1:703941..4858359 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-3438208)x1	copy number loss	See cases [RCV000139780]	Chr1:821713..3438208 [GRCh38] Chr1:757093..3354772 [GRCh37] Chr1:746956..3344632 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1330915-3743546)x3	copy number gain	See cases [RCV000139659]	Chr1:1330915..3743546 [GRCh38] Chr1:1266295..3660110 [GRCh37] Chr1:1256158..3649970 [NCBI36] Chr1:1p36.33-36.32	uncertain significance
GRCh38/hg38 1p36.33-36.32(chr1:821713-2636393)x1	copy number loss	See cases [RCV000141208]	Chr1:821713..2636393 [GRCh38] Chr1:757093..2567832 [GRCh37] Chr1:746956..2557692 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-5099990)x1	copy number loss	See cases [RCV000141318]	Chr1:821713..5099990 [GRCh38] Chr1:757093..5160050 [GRCh37] Chr1:746956..5059910 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-2976123)x1	copy number loss	See cases [RCV000141227]	Chr1:821713..2976123 [GRCh38] Chr1:757093..2892687 [GRCh37] Chr1:746956..2882547 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-4225085)x1	copy number loss	See cases [RCV000141356]	Chr1:821713..4225085 [GRCh38] Chr1:757093..4285145 [GRCh37] Chr1:746956..4185005 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:821713-5480263)x1	copy number loss	See cases [RCV000140709]	Chr1:821713..5480263 [GRCh38] Chr1:757093..5540323 [GRCh37] Chr1:746956..5462910 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:914086-3305463)x1	copy number loss	See cases [RCV000140894]	Chr1:914086..3305463 [GRCh38] Chr1:849466..3222027 [GRCh37] Chr1:839329..3211887 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	copy number loss	See cases [RCV000141970]	Chr1:914086..9567122 [GRCh38] Chr1:849466..9627180 [GRCh37] Chr1:839329..9549767 [NCBI36] Chr1:1p36.33-36.22	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	copy number loss	See cases [RCV000141577]	Chr1:902111..9556305 [GRCh38] Chr1:837491..9616363 [GRCh37] Chr1:827354..9538950 [NCBI36] Chr1:1p36.33-36.22	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:914086-3587042)x1	copy number loss	See cases [RCV000141668]	Chr1:914086..3587042 [GRCh38] Chr1:849466..3503606 [GRCh37] Chr1:839329..3493466 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:911300-2963389)x1	copy number loss	See cases [RCV000142754]	Chr1:911300..2963389 [GRCh38] Chr1:846680..2879954 [GRCh37] Chr1:836543..2869814 [NCBI36] Chr1:1p36.33-36.32	pathogenic\|likely pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1	copy number loss	See cases [RCV000142651]	Chr1:898721..7811306 [GRCh38] Chr1:834101..7871366 [GRCh37] Chr1:823964..7793953 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	copy number loss	See cases [RCV000142615]	Chr1:911300..9329925 [GRCh38] Chr1:846680..9389984 [GRCh37] Chr1:836543..9312571 [NCBI36] Chr1:1p36.33-36.22	pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	copy number loss	See cases [RCV000142709]	Chr1:844347..7870545 [GRCh38] Chr1:779727..7930605 [GRCh37] Chr1:769590..7853192 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1	copy number loss	See cases [RCV000148161]	Chr1:844347..2627474 [GRCh38] Chr1:779727..2558913 [GRCh37] Chr1:769590..2548773 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:874455-2577794)x1	copy number loss	See cases [RCV000240189]	Chr1:874455..2577794 [GRCh37] Chr1:1p36.33-36.32	pathogenic
Single allele	complex	Breast ductal adenocarcinoma [RCV000207058]	Chr1:909238..24706269 [GRCh37] Chr1:1p36.33-36.11	uncertain significance
chr1:909238-16736132 complex variant	complex	Breast ductal adenocarcinoma [RCV000207094]	Chr1:909238..16736132 [GRCh37] Chr1:1p36.33-36.13	uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1	copy number loss	See cases [RCV000239416]	Chr1:82154..12699337 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	copy number loss	See cases [RCV000240403]	Chr1:746608..15077159 [GRCh37] Chr1:1p36.33-36.21	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:874455-3177921)x1	copy number loss	See cases [RCV000240333]	Chr1:874455..3177921 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:852863-4203509)x3	copy number gain	Distal trisomy 1p36 [RCV000519759]	Chr1:852863..4203509 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-3396845)x3	copy number gain	See cases [RCV000449132]	Chr1:849466..3396845 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6566086)x1	copy number loss	See cases [RCV000449148]	Chr1:849466..6566086 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-5318552)x1	copy number loss	See cases [RCV000449322]	Chr1:849466..5318552 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849466-9683808)x1	copy number loss	See cases [RCV000446331]	Chr1:849466..9683808 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:19225-4401691)x3	copy number gain	See cases [RCV000447000]	Chr1:19225..4401691 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4099471)x1	copy number loss	See cases [RCV000446544]	Chr1:849466..4099471 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:564424-3582058)x1	copy number loss	See cases [RCV000447515]	Chr1:564424..3582058 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-5707515)x1	copy number loss	See cases [RCV000448903]	Chr1:849466..5707515 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7300178)x1	copy number loss	See cases [RCV000448061]	Chr1:849466..7300178 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6374209)x1	copy number loss	See cases [RCV000512052]	Chr1:849466..6374209 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4048535)x1	copy number loss	See cases [RCV000510640]	Chr1:849466..4048535 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	copy number gain	See cases [RCV000510383]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6505278)x1	copy number loss	See cases [RCV000510494]	Chr1:849466..6505278 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2607016)x1	copy number loss	See cases [RCV000511408]	Chr1:849466..2607016 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7637060)x1	copy number loss	See cases [RCV000511381]	Chr1:849466..7637060 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2748837)x1	copy number loss	See cases [RCV000511834]	Chr1:849466..2748837 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:1415800-5007235)x1	copy number loss	See cases [RCV000511946]	Chr1:1415800..5007235 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2554275)x1	copy number loss	See cases [RCV000510858]	Chr1:849466..2554275 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	copy number gain	See cases [RCV000510926]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
NM_152371.5(PRXL2B):c.-86G>T	single nucleotide variant	not specified [RCV004327761]	Chr1:2586800 [GRCh38] Chr1:2518239 [GRCh37] Chr1:1p36.32	uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:536777-6012896)x1	copy number loss	not provided [RCV003312163]	Chr1:536777..6012896 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-8901938)x1	copy number loss	See cases [RCV000512568]	Chr1:849466..8901938 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-5352492)x1	copy number loss	See cases [RCV000512243]	Chr1:849466..5352492 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:834101-6076140)	copy number loss	Primary dilated cardiomyopathy [RCV000626523]	Chr1:834101..6076140 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4262915)x1	copy number loss	not provided [RCV000684533]	Chr1:849466..4262915 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7305595)x1	copy number loss	not provided [RCV000684534]	Chr1:849466..7305595 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:2190850-3503606)x1	copy number loss	not provided [RCV000684537]	Chr1:2190850..3503606 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.32(chr1:2397432-2812958)x1	copy number loss	not provided [RCV000684538]	Chr1:2397432..2812958 [GRCh37] Chr1:1p36.32	uncertain significance
GRCh37/hg19 1p36.32(chr1:2419098-3222541)x3	copy number gain	not provided [RCV000684539]	Chr1:2419098..3222541 [GRCh37] Chr1:1p36.32	uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3	copy number gain	not provided [RCV000736295]	Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3	copy number gain	not provided [RCV000736305]	Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:47851-6659872)x1	copy number loss	not provided [RCV000736294]	Chr1:47851..6659872 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:82154-3340855)x1	copy number loss	not provided [RCV000736303]	Chr1:82154..3340855 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:82154-7936272)x1	copy number loss	not provided [RCV000736304]	Chr1:82154..7936272 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:977062-5179574)x1	copy number loss	not provided [RCV000748814]	Chr1:977062..5179574 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:2280661-2551900)x1	copy number loss	not provided [RCV000748849]	Chr1:2280661..2551900 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:82154-7637060)x1	copy number loss	See cases [RCV000790584]	Chr1:82154..7637060 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:82154-3349513)x3	copy number gain	See cases [RCV001007411]	Chr1:82154..3349513 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:823964-6828363)	copy number loss	Chromosome 1p36 deletion syndrome [RCV000767774]	Chr1:823964..6828363 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:1471075-5831645)	copy number gain	not provided [RCV000767773]	Chr1:1471075..5831645 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:568708-3662949)	copy number loss	Chromosome 1p36 deletion syndrome [RCV000767775]	Chr1:568708..3662949 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:568708-2567832)	copy number loss	Chromosome 1p36 deletion syndrome [RCV000767776]	Chr1:568708..2567832 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1	copy number loss	See cases [RCV000790592]	Chr1:82154..11784118 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:1723651-3444846)x1	copy number loss	Chromosome 1p36 deletion syndrome [RCV000856630]	Chr1:1723651..3444846 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NC_000001.10:g.(?_955543)_(2957600_?)del	deletion	Shprintzen-Goldberg syndrome [RCV000816642]	Chr1:955543..2957600 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:2261222-5304873)x1	copy number loss	See cases [RCV000790598]	Chr1:2261222..5304873 [GRCh37] Chr1:1p36.33-36.32	pathogenic
Single allele	deletion	Neurodevelopmental disorder [RCV000787413]	Chr1:554375..9779842 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.32(chr1:2469637-2628158)x3	copy number gain	not provided [RCV000847773]	Chr1:2469637..2628158 [GRCh37] Chr1:1p36.32	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849466-4829059)x1	copy number loss	not provided [RCV001005060]	Chr1:849466..4829059 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6002955)x1	copy number loss	not provided [RCV001005058]	Chr1:849466..6002955 [GRCh37] Chr1:1p36.33-36.31	pathogenic
NM_152371.5(PRXL2B):c.509A>G (p.Tyr170Cys)	single nucleotide variant	not specified [RCV004298258]	Chr1:2588970 [GRCh38] Chr1:2520409 [GRCh37] Chr1:1p36.32	uncertain significance
GRCh37/hg19 1p36.33-36.23(chr1:849466-7786545)x1	copy number loss	not provided [RCV001005057]	Chr1:849466..7786545 [GRCh37] Chr1:1p36.33-36.23	pathogenic
NC_000001.10:g.(?_955543)_(3350385_?)del	deletion	Left ventricular noncompaction 8 [RCV001033604]	Chr1:955543..3350385 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:2194087-4738355)x3	copy number gain	not provided [RCV002473692]	Chr1:2194087..4738355 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566)x1	copy number loss	not provided [RCV001005059]	Chr1:849466..5625566 [GRCh37] Chr1:1p36.33-36.31	pathogenic
Single allele	deletion	Chromosome 1p36 deletion syndrome [RCV001250754]	Chr1:1670720..3816863 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686)	copy number loss	Harel-Yoon syndrome [RCV001254115]	Chr1:762080..7309686 [GRCh37] Chr1:1p36.33-36.23	likely pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:1-5592835)x1	copy number loss	not provided [RCV001260116]	Chr1:1..5592835 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.32-36.23(chr1:2420003-8155935)x1	copy number loss	Chromosome 1p36 deletion syndrome [RCV001535693]	Chr1:2420003..8155935 [GRCh37] Chr1:1p36.32-36.23	not provided
GRCh37/hg19 1p36.33-36.32(chr1:849466-2518608)x1	copy number loss	See cases [RCV002285055]	Chr1:849466..2518608 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:753552-4034574)x1	copy number loss	not provided [RCV001795535]	Chr1:753552..4034574 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4183006)	copy number loss	Chromosome 1p36 deletion syndrome [RCV002280716]	Chr1:849466..4183006 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NC_000001.10:g.(?_989123)_(3160711_?)del	deletion	Left ventricular noncompaction 8 [RCV002004579]	Chr1:989123..3160711 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	copy number loss	not provided [RCV001832902]	Chr1:849466..17525065 [GRCh37] Chr1:1p36.33-36.13	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2621542)x1	copy number loss	not provided [RCV001829223]	Chr1:849466..2621542 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NC_000001.10:g.(?_955553)_(3350375_?)del	deletion	Left ventricular noncompaction 8 [RCV001955735]	Chr1:955553..3350375 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
NC_000001.10:g.(?_861322)_(3768971_?)del	deletion	Combined immunodeficiency due to OX40 deficiency [RCV001919158]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001923367]\|Joubert syndrome 25 [RCV001923368]\|Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency [RCV001919159]\|Peroxisome biogenesis disorder, complementation group 7 [RCV001919157]\|not provided [RCV001943250]	Chr1:861322..3768971 [GRCh37] Chr1:1p36.33-36.32	pathogenic\|uncertain significance\|no classifications from unflagged records
GRCh37/hg19 1p36.33-36.23(chr1:834101-7930605)x1	copy number loss	Chromosome 1p36 deletion syndrome [RCV002279763]	Chr1:834101..7930605 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566)	copy number loss	Chromosome 1p36 deletion syndrome [RCV002280715]	Chr1:849466..5625566 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)	copy number loss	Chromosome 1p36 deletion syndrome, proximal [RCV002280717]	Chr1:849466..10258804 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:2173570-5023430)x1	copy number loss	not provided [RCV002474579]	Chr1:2173570..5023430 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	copy number loss	not provided [RCV002473951]	Chr1:849467..12448956 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849467-2972435)x1	copy number loss	not provided [RCV002472529]	Chr1:849467..2972435 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NM_033467.4(MMEL1):c.2311C>T (p.His771Tyr)	single nucleotide variant	not specified [RCV004091813]	Chr1:2591019 [GRCh38] Chr1:2522458 [GRCh37] Chr1:1p36.32	uncertain significance
NM_033467.4(MMEL1):c.2296C>T (p.Arg766Trp)	single nucleotide variant	not specified [RCV004199847]	Chr1:2591034 [GRCh38] Chr1:2522473 [GRCh37] Chr1:1p36.32	uncertain significance
NM_033467.4(MMEL1):c.2275G>A (p.Ala759Thr)	single nucleotide variant	not specified [RCV004243787]	Chr1:2591055 [GRCh38] Chr1:2522494 [GRCh37] Chr1:1p36.32	uncertain significance
NM_033467.4(MMEL1):c.2288A>G (p.His763Arg)	single nucleotide variant	not specified [RCV004155661]	Chr1:2591042 [GRCh38] Chr1:2522481 [GRCh37] Chr1:1p36.32	uncertain significance
NM_152371.5(PRXL2B):c.-86G>A	single nucleotide variant	not specified [RCV004252786]	Chr1:2586800 [GRCh38] Chr1:2518239 [GRCh37] Chr1:1p36.32	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:1-2580976)x1	copy number loss	Chromosome 1p36 deletion syndrome [RCV003226604]	Chr1:1..2580976 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.32(chr1:2518272-4413203)	copy number gain	Anomalous pulmonary venous return [RCV003223566]	Chr1:2518272..4413203 [GRCh38] Chr1:1p36.32	uncertain significance
NM_152371.5(PRXL2B):c.186C>G (p.Asp62Glu)	single nucleotide variant	not specified [RCV004272146]	Chr1:2587213 [GRCh38] Chr1:2518652 [GRCh37] Chr1:1p36.32	uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:1957148-6553454)	copy number loss	Chromosome 1p36 deletion syndrome [RCV003319574]	Chr1:1957148..6553454 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	copy number gain	Trisomy 12p [RCV003447845]	Chr1:99125..34026935 [GRCh38] Chr1:1p36.33-35.1	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:1129319-3615916)x3	copy number gain	not provided [RCV003484001]	Chr1:1129319..3615916 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:1687675-3638712)x3	copy number gain	not provided [RCV003484004]	Chr1:1687675..3638712 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849467-3500877)x1	copy number loss	not provided [RCV003482983]	Chr1:849467..3500877 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:1089596-2607016)x3	copy number gain	not provided [RCV003483999]	Chr1:1089596..2607016 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	copy number loss	not provided [RCV003482961]	Chr1:849467..9627901 [GRCh37] Chr1:1p36.33-36.22	pathogenic
NM_033467.4(MMEL1):c.2286C>A (p.Phe762Leu)	single nucleotide variant	not specified [RCV004510503]	Chr1:2591044 [GRCh38] Chr1:2522483 [GRCh37] Chr1:1p36.32	uncertain significance
NM_033467.4(MMEL1):c.2303C>A (p.Thr768Asn)	single nucleotide variant	not specified [RCV004510599]	Chr1:2591027 [GRCh38] Chr1:2522466 [GRCh37] Chr1:1p36.32	uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:1959612-5471235)x1	copy number loss	not specified [RCV003986795]	Chr1:1959612..5471235 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	copy number loss	not specified [RCV003986962]	Chr1:849466..8966102 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4529103)x3	copy number gain	not specified [RCV003986984]	Chr1:849466..4529103 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NM_152371.5(PRXL2B):c.20C>T (p.Ala7Val)	single nucleotide variant	not specified [RCV004512996]	Chr1:2586905 [GRCh38] Chr1:2518344 [GRCh37] Chr1:1p36.32	uncertain significance
NM_152371.5(PRXL2B):c.52G>C (p.Val18Leu)	single nucleotide variant	not specified [RCV004512997]	Chr1:2586937 [GRCh38] Chr1:2518376 [GRCh37] Chr1:1p36.32	uncertain significance
NM_152371.5(PRXL2B):c.-72T>G	single nucleotide variant	not specified [RCV004512998]	Chr1:2586814 [GRCh38] Chr1:2518253 [GRCh37] Chr1:1p36.32	uncertain significance
NM_152371.5(PRXL2B):c.-51G>T	single nucleotide variant	not specified [RCV004513000]	Chr1:2586835 [GRCh38] Chr1:2518274 [GRCh37] Chr1:1p36.32	uncertain significance
NM_152371.5(PRXL2B):c.321-25G>A	single nucleotide variant	not specified [RCV004513001]	Chr1:2588365 [GRCh38] Chr1:2519804 [GRCh37] Chr1:1p36.32	uncertain significance
NM_152371.5(PRXL2B):c.568G>A (p.Asp190Asn)	single nucleotide variant	not specified [RCV004513007]	Chr1:2589029 [GRCh38] Chr1:2520468 [GRCh37] Chr1:1p36.32	likely benign
NM_152371.5(PRXL2B):c.-62A>C	single nucleotide variant	not specified [RCV004512999]	Chr1:2586824 [GRCh38] Chr1:2518263 [GRCh37] Chr1:1p36.32	uncertain significance
NM_152371.5(PRXL2B):c.511G>A (p.Val171Ile)	single nucleotide variant	not specified [RCV004513005]	Chr1:2588972 [GRCh38] Chr1:2520411 [GRCh37] Chr1:1p36.32	uncertain significance
NM_152371.5(PRXL2B):c.385G>T (p.Ala129Ser)	single nucleotide variant	not specified [RCV004513002]	Chr1:2588550 [GRCh38] Chr1:2519989 [GRCh37] Chr1:1p36.32	uncertain significance
NM_152371.5(PRXL2B):c.544A>G (p.Ile182Val)	single nucleotide variant	not specified [RCV004513006]	Chr1:2589005 [GRCh38] Chr1:2520444 [GRCh37] Chr1:1p36.32	uncertain significance
NC_000001.10:g.(?_1470739)_(3768971_?)dup	duplication	not provided [RCV004579073]	Chr1:1470739..3768971 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
NM_033467.4(MMEL1):c.2332G>A (p.Val778Met)	single nucleotide variant	not specified [RCV004641062]	Chr1:2590998 [GRCh38] Chr1:2522437 [GRCh37] Chr1:1p36.32	uncertain significance
NM_152371.5(PRXL2B):c.573G>A (p.Pro191=)	single nucleotide variant	not specified [RCV004657606]	Chr1:2589034 [GRCh38] Chr1:2520473 [GRCh37] Chr1:1p36.32	likely benign
NM_152371.5(PRXL2B):c.122G>C (p.Arg41Pro)	single nucleotide variant	not specified [RCV004657607]	Chr1:2587149 [GRCh38] Chr1:2518588 [GRCh37] Chr1:1p36.32	uncertain significance
NM_152371.5(PRXL2B):c.525C>T (p.His175=)	single nucleotide variant	not specified [RCV004657608]	Chr1:2588986 [GRCh38] Chr1:2520425 [GRCh37] Chr1:1p36.32	likely benign
NC_000001.10:g.(?_1146935)_(3768971_?)del	deletion	Shprintzen-Goldberg syndrome [RCV004584004]	Chr1:1146935..3768971 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849467-3153423)x3	copy number gain	not provided [RCV004819296]	Chr1:849467..3153423 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.32-36.23(chr1:2454930-8142590)x1	copy number loss	not provided [RCV004819326]	Chr1:2454930..8142590 [GRCh37] Chr1:1p36.32-36.23	pathogenic
NM_152371.5(PRXL2B):c.505G>A (p.Asp169Asn)	single nucleotide variant	not specified [RCV004851560]	Chr1:2588966 [GRCh38] Chr1:2520405 [GRCh37] Chr1:1p36.32	uncertain significance
NM_152371.5(PRXL2B):c.261C>G (p.Phe87Leu)	single nucleotide variant	not specified [RCV004851561]	Chr1:2587288 [GRCh38] Chr1:2518727 [GRCh37] Chr1:1p36.32	uncertain significance
NM_152371.5(PRXL2B):c.321-38T>G	single nucleotide variant	not specified [RCV004851562]	Chr1:2588352 [GRCh38] Chr1:2519791 [GRCh37] Chr1:1p36.32	uncertain significance
NM_152371.5(PRXL2B):c.421G>A (p.Asp141Asn)	single nucleotide variant	not specified [RCV004851563]	Chr1:2588586 [GRCh38] Chr1:2520025 [GRCh37] Chr1:1p36.32	uncertain significance
NM_152371.5(PRXL2B):c.387C>T (p.Ala129=)	single nucleotide variant	not specified [RCV004851556]	Chr1:2588552 [GRCh38] Chr1:2519991 [GRCh37] Chr1:1p36.32	likely benign
NM_152371.5(PRXL2B):c.217C>T (p.Pro73Ser)	single nucleotide variant	not specified [RCV004851557]	Chr1:2587244 [GRCh38] Chr1:2518683 [GRCh37] Chr1:1p36.32	uncertain significance
NM_152371.5(PRXL2B):c.436G>A (p.Gly146Arg)	single nucleotide variant	not specified [RCV004851558]	Chr1:2588601 [GRCh38] Chr1:2520040 [GRCh37] Chr1:1p36.32	uncertain significance
NM_152371.5(PRXL2B):c.547T>C (p.Ser183Pro)	single nucleotide variant	not specified [RCV004851559]	Chr1:2589008 [GRCh38] Chr1:2520447 [GRCh37] Chr1:1p36.32	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	9257
Count of miRNA genes:	1041
Interacting mature miRNAs:	1328
Transcripts:	ENST00000378424, ENST00000378425, ENST00000378427, ENST00000419916, ENST00000444521, ENST00000464043, ENST00000465233, ENST00000474659, ENST00000476686, ENST00000477045, ENST00000481683, ENST00000484099, ENST00000493183, ENST00000498083, ENST00000537325
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
1298451	OSTEAR17_H	Osteoarthritis QTL 17 (human)	2.4	0.0004	Joint/bone inflammation	osteoarthritis	11	1	25188105	Human
597054565	GWAS1150639_H	multiple sclerosis QTL GWAS1150639 (human)		2e-36	multiple sclerosis		1	2589088	2589089	Human
597424685	GWAS1520759_H	insulin measurement QTL GWAS1520759 (human)		0.000005	insulin measurement	pancreatic islet insulin release measurement (CMO:0001216)	1	2588863	2588864	Human
1298463	BP9_H	Blood pressure QTL 9 (human)	3.9		Blood pressure	hypertension susceptibility	1	1	25188105	Human

G20652

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	2,522,629 - 2,522,840	UniSTS	GRCh37
Build 36	1	2,512,489 - 2,512,700	RGD	NCBI36
Celera	1	63,160 - 63,371	RGD
Cytogenetic Map	1	p36.32	UniSTS
Cytogenetic Map	1	p36	UniSTS
HuRef	1	1,801,865 - 1,802,076	UniSTS

A006A26

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	2,522,629 - 2,522,840	UniSTS	GRCh37
Build 36	1	2,512,489 - 2,512,700	RGD	NCBI36
Celera	1	63,160 - 63,371	RGD
Cytogenetic Map	1	p36.32	UniSTS
Cytogenetic Map	1	p36	UniSTS
HuRef	1	1,801,865 - 1,802,076	UniSTS
GeneMap99-GB4 RH Map	1	15.89	UniSTS

D1S3693

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	16	q24.3	UniSTS
Cytogenetic Map	22	q13.1	UniSTS
Cytogenetic Map	3	p22	UniSTS
Cytogenetic Map	22	q12.1	UniSTS
Cytogenetic Map	20	q11.21	UniSTS
Cytogenetic Map	21	q22.3	UniSTS
Cytogenetic Map	17	q25.3	UniSTS
Cytogenetic Map	13	q34	UniSTS
Cytogenetic Map	1	q22-q23	UniSTS
Cytogenetic Map	1	p36.21	UniSTS
Cytogenetic Map	19	p13	UniSTS
Cytogenetic Map	8	p21.3	UniSTS
Cytogenetic Map	20	q13.33	UniSTS
Cytogenetic Map	11	q13.2	UniSTS
Cytogenetic Map	12	p13.3	UniSTS
Cytogenetic Map	15	q14	UniSTS
Cytogenetic Map	6	p25.2	UniSTS
Cytogenetic Map	X	p22.33	UniSTS
Cytogenetic Map	Y	p11.32	UniSTS
Cytogenetic Map	10	p15.3-p15.2	UniSTS
Cytogenetic Map	13	q14.13	UniSTS
Cytogenetic Map	17	p13.3	UniSTS
Cytogenetic Map	3	p22.3	UniSTS
Cytogenetic Map	2	q13	UniSTS
Cytogenetic Map	1	q32.3-q41	UniSTS
Cytogenetic Map	1	p13.3	UniSTS
Cytogenetic Map	11	q13.5	UniSTS
Cytogenetic Map	9	q34.11	UniSTS
Cytogenetic Map	1	p36.32	UniSTS
Cytogenetic Map	19	q13.42	UniSTS
Cytogenetic Map	11	q13	UniSTS
Cytogenetic Map	1	q32.1	UniSTS
Cytogenetic Map	22	q13.2	UniSTS
Cytogenetic Map	19	p13.3	UniSTS
Cytogenetic Map	17	q12	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	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2252	4972	1726	2351	5	623	1951	465	2269	7304	6470	53	3734	852	1744	1617	175	1


RefSeq Transcripts	NM_001195736	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001195737	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001195738	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001195740	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001195741	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_152371	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_036637	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_036638	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_006710354	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011540665	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047445405	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047445406	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054328601	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054328602	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054328603	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054328604	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054334333	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054334334	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054334335	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054334336	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF425266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK057027	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK075273	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK094901	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK291908	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK298926	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK303504	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK308034	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK316243	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL139246	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL359575	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC022547	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI908668	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM976058	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ709693	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471183	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR749706	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA292832	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA495138	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC351872	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC407959	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000378424 ⟹ ENSP00000367681

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	2,586,780 - 2,591,467 (+)	Ensembl

Ensembl Acc Id:

ENST00000378425 ⟹ ENSP00000367682

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	2,586,750 - 2,591,467 (+)	Ensembl

Ensembl Acc Id:

ENST00000378427 ⟹ ENSP00000367684

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	2,586,798 - 2,591,463 (+)	Ensembl

Ensembl Acc Id:

ENST00000419916 ⟹ ENSP00000394405

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	2,586,777 - 2,591,468 (+)	Ensembl

Ensembl Acc Id:

ENST00000444521 ⟹ ENSP00000413218

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	2,586,750 - 2,591,467 (+)	Ensembl

Ensembl Acc Id:

ENST00000464043

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	2,586,817 - 2,589,805 (+)	Ensembl

Ensembl Acc Id:

ENST00000465233 ⟹ ENSP00000462185

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	2,586,833 - 2,588,977 (+)	Ensembl

Ensembl Acc Id:

ENST00000474659

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	2,586,540 - 2,589,658 (+)	Ensembl

Ensembl Acc Id:

ENST00000476686

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	2,588,594 - 2,591,468 (+)	Ensembl

Ensembl Acc Id:

ENST00000477045

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	2,587,085 - 2,588,745 (+)	Ensembl

Ensembl Acc Id:

ENST00000481683

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	2,587,042 - 2,589,513 (+)	Ensembl

Ensembl Acc Id:

ENST00000484099

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	2,587,078 - 2,591,469 (+)	Ensembl

Ensembl Acc Id:

ENST00000493183

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	2,586,491 - 2,589,632 (+)	Ensembl

Ensembl Acc Id:

ENST00000498083 ⟹ ENSP00000463127

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	2,586,877 - 2,588,992 (+)	Ensembl

Ensembl Acc Id:

ENST00000537325 ⟹ ENSP00000443605

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	2,586,796 - 2,589,947 (+)	Ensembl

RefSeq Acc Id:

NM_001195736 ⟹ NP_001182665

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	2,586,777 - 2,591,468 (+)	NCBI
GRCh37	1	2,517,899 - 2,522,908 (+)	ENTREZGENE
HuRef	1	1,797,135 - 1,802,144 (+)	ENTREZGENE
CHM1_1	1	2,505,268 - 2,509,987 (+)	NCBI
T2T-CHM13v2.0	1	2,028,422 - 2,033,113 (+)	NCBI

Sequence:

show sequence

GGGGCTTGGGGCTGGATCTATGAGCCGGGAGCGGGGATCCAGGAGCGAGGAGCCGGGAGCGGGGAACAGGGAGTCGGGGAGCCGGGAACCAGGGCTGGCAGCGGCCGCCATGAGCACGGTGGACCTTG
CTCGCGTGGGCGCGTGCATCCTGAAGCATGCGGTGACCGGGGAGGCCGTGGAGCTGCGGAGCCTGTGGCGGGAGCACGCGTGCGTGGTGGCCGGGCTGCGGCGCTTCGGGTGCGTGGTGTGCCGCTGG
ATCGCCCAGGACCTCAGCAGCCTTGCTGGGCTCCTGGACCAACACGGCGTGCGCCTGGTGGGCGTAGGGCCCGAGGCCCTGGGTCTGCAGGAGTTCCTGGACGGCGACTACTTCGCGGGAGAGCTCTA
CCTGGATGAGAGCAAGCAGCTTTACAAGGAGCTAGGCTTCAAGCGGCTCTGGACCCAGGCTTCTCCGGAGTTTGGCCAAGCGACCTGGTGTCTTCGCAGGTACAACAGCCTGAGCATCCTCCCAGCAG
CTCTGGGGAAGCCCGTGCGTGATGTGGCTGCCAAGGCCAAGGCTGTTGGCATCCAGGGGAACTTGTCTGGGGACCTGCTGCAGAGCGGAGGGCTGCTGGTGGTCAGCAAAGGTGGTGATAAAGTGCTC
CTGCATTTCGTCCAGAAGTCCCCAGGCGACTACGTCCCCAAGGAGCACATCCTGCAGGTCCTGGGCATCTCTGCGGAGGTCTGTGCCAGCGACCCGCCTCAGTGTGACAGAGAGGTGTGAGGGAGGCG
AAGGCCCTGGCCTCCGAGGATCTGGGTGGCGTCTGCTGCCCTAGGTGTGCTGGAAGTCCACTTGGAAGAACTGTTCCGGAGGCGCTGGGTCGGGATGCCGAACCTCTCCTGATCCGCCGGCAGCAACG
AGCCATTAAAACTGCAGTTCCTGACCACGCACTGCTTCGCAGGCTCCGAGCCCTGCATCCTCCACAGCCCCCGCCTTGCTCACTGTTGGGCCCTCAGGGCGGGCAGGGTGGCTGTGAGTCCCAGGTGT
CATCTTCCTGCTCTGCGACTTTCTCTGGAGACCTTGGGCCTTTGGCCTGTGGGGCACTGGGGATGGTAACCTCACTGCCCCGTCACTCCCTTCAAAGGCGACAGACCCAAGCCCACGTCAGGAGAGGA
GCGTGGGGTCAGCTCCAGCAGGGTCGGGGTCAGTGCCTGTGTCTGGTGGGGGCCACTCAGGAGAGTTGGGTTTTCAGGGCAGAGATGGGCTTGATTCCACCTGGTGGGGTGGGTGGACCCTGGAGACT
CTCAGGTGATGGGCCAGCCTGCCCCAAGGCTCTTTACTGATGTCAGAATCATTGTTTGCACCTGCTGGGTATGGCCTTTGGGGCGGCCGGCCCGGGAGGGTCTTAGTCTAATTAGGTGTGTCCAGCTT
CTTGGCCACCTTTCCCTGGGGACCCTAACAGGCCCAGAGCAGAGCCCCTTACCTCCCAGGTCAGACTACCTGCTCAGGCCCTCCCCTCCCATGCAGGCCGATGACAACTGCAGCCCTCTCTGCACTCC
CTAGTCCAGACCTGGGGACCACTGTGGGTTCCTGTGGGTCTCCCGGCTCCCTTCCTGCCCCCAATGCCACCCTTGCAGTGGCCATTTAAAAATGCATAGCAGGTGACCCACTGCGTCCCTTTGCGTTC
AGCCCCTCCTCTGGCTTTCAGTTACACCAAGCTAAAATTTCAGGTTCCCAGCTGCAGCTCTCTGGGTCCCCCGGTGCCCCAGTGGGGCTCCCCGCATCTGAATGTGTGGTCCCTGGGGGTGGGCACTT
GGGGGCATCCTGGTCACTGCTGGCCCTAGCATTGGACCCTAGGAGACCTGACTGGAACTGGCTCCCTCCCCATCAGCTCCCAGCTGTCACTCTCTCCCACCCCCGGGCAGCTGTTTTGCCCAAGACCA
CTGCTACCTGTTTACCCACCCTGGTCCCTCCCAGACAAGCAAGGCCTCTGATTTCTTTGAAGCATTTACTTAGCTCAAGTCTGAAGCTGTAGATACTGGAAGACAATGCACCTTGGAGGGTGGGCAGG
ACACAGTTGATTGTCTCTACAGAGCTGTGACGGGGGCACTGAGCCCCGCGGGTGTCTGTGGAGGGGGCTCCGGTCCAGGTACTGCACTGGACACTGCTCATCCCTGGGTGTCAGGCAGGTGGCTGCAC
CCTAGGCCAGGCGCAGAGGCCTGGCAGGCAGGCTTGGCATGGTTGGCCGGGGCGGGACGTACACTGGGTCGCCGCTAGCTGCACCTTCGCACAGATGCCTCCGAGCAGCGGGTGGGCGTGGGCCGCAC
AGCGCGGCAGGGCCTTGGCTACCACACGCGGCATCGCTCCTTGGGGTGCATGGGGGTGCCCCGGGCACAGTGGAACGTGTCTGCGAAGGCGGCCAGGTTCTGCAGCGACCCCAGTACCCTGTGGGTGG
GTGGGTGTGACAGCAGGAGCATTGCCATCTTGGACAAACATGGCCATTTTAAGTTCTCCGTGATTAAAAACCAGCCCAAAACATCAGCCTAATGGCTCATGTCAGTATGAGCAGAAACATTTCAACCA
TGAGATAAACCCCCATCTGACCAGAAACATGCCAATCCTGAGAATAACCTCCCCTCCAGCCAGAGATATTCCAACTCTGCAATAAAACTCTCCTTCACACAGAAACATTCGCAGCCTGCGGTAGGCTC
CCCCTTCCTAAACCCTTAAATGCCCTTAGTCTGTAAGAGAATGTCCCTGACCGAAATCGGCCAGAAGCCCCTCTCAGGTTTATTCCCAAAATAAACCTGTCTCTGTTGAGCCA

hide sequence

RefSeq Acc Id:

NM_001195737 ⟹ NP_001182666

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	2,586,777 - 2,591,468 (+)	NCBI
GRCh37	1	2,517,899 - 2,522,908 (+)	ENTREZGENE
HuRef	1	1,797,135 - 1,802,144 (+)	ENTREZGENE
CHM1_1	1	2,505,268 - 2,509,987 (+)	NCBI
T2T-CHM13v2.0	1	2,028,422 - 2,033,113 (+)	NCBI

Sequence:

show sequence

GGGGCTTGGGGCTGGATCTATGAGCCGGGAGCGGGGATCCAGGAGCGAGGAGCCGGGAGCGGGGAACAGGGAGTCGGGGAGCCGGGAACCAGGGCTGGCAGCGGCCGCCATGAGCACGGTGGACCTTG
CTCGCGTGGGCGCGTGCATCCTGAAGCATGCGGTGACCGGGGAGGCCGTGGAGCTGCGGAGCCTGTGGCGGGAGCACGCGTGCGTGGTGGCCGGGCTGCGGCGCTTCGGGTGCGTGGTGTGCCGCTGG
ATCGCCCAGGACCTCAGCAGCCTTGCTGGGCTCCTGGACCAACACGGCGTGCGCCTGGTGGGCGTAGGGCCCGAGGCCCTGGGTCTGCAGGAGTTCCTGGACGGCGACTACTTCGCGGGAGAGCTCTA
CCTGGATGAGAGCAAGCAGCTTTACAAGGAGCTAGGCTTCAAGCGGTACAACAGCCTGAGCATCCTCCCAGCAGCTCTGGGGAAGCCCGTGCGTGATGTGGCTGCCAAGGCTGTACCCACTCCTGACA
GGCCAAGGCTGTTGGCATCCAGGGGAACTTGTCTGGGGACCTGCTGCAGAGCGGAGGGCTGCTGGTGGTCAGCAAAGAAGTCCCCAGGCGACTACGTCCCCAAGGAGCACATCCTGCAGGTCCTGGGC
ATCTCTGCGGAGGTCTGTGCCAGCGACCCGCCTCAGTGTGACAGAGAGGTGTGAGGGAGGCGAAGGCCCTGGCCTCCGAGGATCTGGGTGGCGTCTGCTGCCCTAGGTGTGCTGGAAGTCCACTTGGA
AGAACTGTTCCGGAGGCGCTGGGTCGGGATGCCGAACCTCTCCTGATCCGCCGGCAGCAACGAGCCATTAAAACTGCAGTTCCTGACCACGCACTGCTTCGCAGGCTCCGAGCCCTGCATCCTCCACA
GCCCCCGCCTTGCTCACTGTTGGGCCCTCAGGGCGGGCAGGGTGGCTGTGAGTCCCAGGTGTCATCTTCCTGCTCTGCGACTTTCTCTGGAGACCTTGGGCCTTTGGCCTGTGGGGCACTGGGGATGG
TAACCTCACTGCCCCGTCACTCCCTTCAAAGGCGACAGACCCAAGCCCACGTCAGGAGAGGAGCGTGGGGTCAGCTCCAGCAGGGTCGGGGTCAGTGCCTGTGTCTGGTGGGGGCCACTCAGGAGAGT
TGGGTTTTCAGGGCAGAGATGGGCTTGATTCCACCTGGTGGGGTGGGTGGACCCTGGAGACTCTCAGGTGATGGGCCAGCCTGCCCCAAGGCTCTTTACTGATGTCAGAATCATTGTTTGCACCTGCT
GGGTATGGCCTTTGGGGCGGCCGGCCCGGGAGGGTCTTAGTCTAATTAGGTGTGTCCAGCTTCTTGGCCACCTTTCCCTGGGGACCCTAACAGGCCCAGAGCAGAGCCCCTTACCTCCCAGGTCAGAC
TACCTGCTCAGGCCCTCCCCTCCCATGCAGGCCGATGACAACTGCAGCCCTCTCTGCACTCCCTAGTCCAGACCTGGGGACCACTGTGGGTTCCTGTGGGTCTCCCGGCTCCCTTCCTGCCCCCAATG
CCACCCTTGCAGTGGCCATTTAAAAATGCATAGCAGGTGACCCACTGCGTCCCTTTGCGTTCAGCCCCTCCTCTGGCTTTCAGTTACACCAAGCTAAAATTTCAGGTTCCCAGCTGCAGCTCTCTGGG
TCCCCCGGTGCCCCAGTGGGGCTCCCCGCATCTGAATGTGTGGTCCCTGGGGGTGGGCACTTGGGGGCATCCTGGTCACTGCTGGCCCTAGCATTGGACCCTAGGAGACCTGACTGGAACTGGCTCCC
TCCCCATCAGCTCCCAGCTGTCACTCTCTCCCACCCCCGGGCAGCTGTTTTGCCCAAGACCACTGCTACCTGTTTACCCACCCTGGTCCCTCCCAGACAAGCAAGGCCTCTGATTTCTTTGAAGCATT
TACTTAGCTCAAGTCTGAAGCTGTAGATACTGGAAGACAATGCACCTTGGAGGGTGGGCAGGACACAGTTGATTGTCTCTACAGAGCTGTGACGGGGGCACTGAGCCCCGCGGGTGTCTGTGGAGGGG
GCTCCGGTCCAGGTACTGCACTGGACACTGCTCATCCCTGGGTGTCAGGCAGGTGGCTGCACCCTAGGCCAGGCGCAGAGGCCTGGCAGGCAGGCTTGGCATGGTTGGCCGGGGCGGGACGTACACTG
GGTCGCCGCTAGCTGCACCTTCGCACAGATGCCTCCGAGCAGCGGGTGGGCGTGGGCCGCACAGCGCGGCAGGGCCTTGGCTACCACACGCGGCATCGCTCCTTGGGGTGCATGGGGGTGCCCCGGGC
ACAGTGGAACGTGTCTGCGAAGGCGGCCAGGTTCTGCAGCGACCCCAGTACCCTGTGGGTGGGTGGGTGTGACAGCAGGAGCATTGCCATCTTGGACAAACATGGCCATTTTAAGTTCTCCGTGATTA
AAAACCAGCCCAAAACATCAGCCTAATGGCTCATGTCAGTATGAGCAGAAACATTTCAACCATGAGATAAACCCCCATCTGACCAGAAACATGCCAATCCTGAGAATAACCTCCCCTCCAGCCAGAGA
TATTCCAACTCTGCAATAAAACTCTCCTTCACACAGAAACATTCGCAGCCTGCGGTAGGCTCCCCCTTCCTAAACCCTTAAATGCCCTTAGTCTGTAAGAGAATGTCCCTGACCGAAATCGGCCAGAA
GCCCCTCTCAGGTTTATTCCCAAAATAAACCTGTCTCTGTTGAGCCA

hide sequence

RefSeq Acc Id:

NM_001195738 ⟹ NP_001182667

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	2,586,777 - 2,591,468 (+)	NCBI
GRCh37	1	2,517,899 - 2,522,908 (+)	ENTREZGENE
HuRef	1	1,797,135 - 1,802,144 (+)	ENTREZGENE
CHM1_1	1	2,505,268 - 2,509,987 (+)	NCBI
T2T-CHM13v2.0	1	2,028,422 - 2,033,113 (+)	NCBI

Sequence:

show sequence

GGGGCTTGGGGCTGGATCTATGAGCCGGGAGCGGGGATCCAGGAGCGAGGAGCCGGGAGCGGGG
AACAGGGAGTCGGGGAGCCGGGAACCAGGGCTGGCAGCGGCCGCCATGAGCACGGTGGACCTTGCTCGCGTGGGCGCGTGCATCCTGAAGCATGCGGTGACCGGGGAGGCCGTGGAGCTGCGGAGCCT
GTGGCGGGAGCACGCGTGCGTGGTGGCCGGGCTGCGGCGCTTCGGGTGCGTGGTGTGCCGCTGGATCGCCCAGGACCTCAGCAGCCTTGCTGGGCTCCTGGACCAACACGGCGTGCGCCTGGTGGGCG
TAGGGCCCGAGGCCCTGGGTCTGCAGGAGTTCCTGGACGGCGACTACTTCGCGGGAGAGCTCTACCTGGATGAGAGCAAGCAGCTTTACAAGGAGCTAGGCTTCAAGCGGTACAACAGCCTGAGCATC
CTCCCAGCAGCTCTGGGGAAGCCCGTGCGTGATGTGGCTGCCAAGGCCAAGGCTGTTGGCATCCAGGGGAACTTGTCTGGGGACCTGCTGCAGAGCGGAGGGCTGCTGGTGGTCAGCAAAGAAGTCCC
CAGGCGACTACGTCCCCAAGGAGCACATCCTGCAGGTCCTGGGCATCTCTGCGGAGGTCTGTGCCAGCGACCCGCCTCAGTGTGACAGAGAGGTGTGAGGGAGGCGAAGGCCCTGGCCTCCGAGGATC
TGGGTGGCGTCTGCTGCCCTAGGTGTGCTGGAAGTCCACTTGGAAGAACTGTTCCGGAGGCGCTGGGTCGGGATGCCGAACCTCTCCTGATCCGCCGGCAGCAACGAGCCATTAAAACTGCAGTTCCT
GACCACGCACTGCTTCGCAGGCTCCGAGCCCTGCATCCTCCACAGCCCCCGCCTTGCTCACTGTTGGGCCCTCAGGGCGGGCAGGGTGGCTGTGAGTCCCAGGTGTCATCTTCCTGCTCTGCGACTTT
CTCTGGAGACCTTGGGCCTTTGGCCTGTGGGGCACTGGGGATGGTAACCTCACTGCCCCGTCACTCCCTTCAAAGGCGACAGACCCAAGCCCACGTCAGGAGAGGAGCGTGGGGTCAGCTCCAGCAGG
GTCGGGGTCAGTGCCTGTGTCTGGTGGGGGCCACTCAGGAGAGTTGGGTTTTCAGGGCAGAGATGGGCTTGATTCCACCTGGTGGGGTGGGTGGACCCTGGAGACTCTCAGGTGATGGGCCAGCCTGC
CCCAAGGCTCTTTACTGATGTCAGAATCATTGTTTGCACCTGCTGGGTATGGCCTTTGGGGCGGCCGGCCCGGGAGGGTCTTAGTCTAATTAGGTGTGTCCAGCTTCTTGGCCACCTTTCCCTGGGGA
CCCTAACAGGCCCAGAGCAGAGCCCCTTACCTCCCAGGTCAGACTACCTGCTCAGGCCCTCCCCTCCCATGCAGGCCGATGACAACTGCAGCCCTCTCTGCACTCCCTAGTCCAGACCTGGGGACCAC
TGTGGGTTCCTGTGGGTCTCCCGGCTCCCTTCCTGCCCCCAATGCCACCCTTGCAGTGGCCATTTAAAAATGCATAGCAGGTGACCCACTGCGTCCCTTTGCGTTCAGCCCCTCCTCTGGCTTTCAGT
TACACCAAGCTAAAATTTCAGGTTCCCAGCTGCAGCTCTCTGGGTCCCCCGGTGCCCCAGTGGGGCTCCCCGCATCTGAATGTGTGGTCCCTGGGGGTGGGCACTTGGGGGCATCCTGGTCACTGCTG
GCCCTAGCATTGGACCCTAGGAGACCTGACTGGAACTGGCTCCCTCCCCATCAGCTCCCAGCTGTCACTCTCTCCCACCCCCGGGCAGCTGTTTTGCCCAAGACCACTGCTACCTGTTTACCCACCCT
GGTCCCTCCCAGACAAGCAAGGCCTCTGATTTCTTTGAAGCATTTACTTAGCTCAAGTCTGAAGCTGTAGATACTGGAAGACAATGCACCTTGGAGGGTGGGCAGGACACAGTTGATTGTCTCTACAG
AGCTGTGACGGGGGCACTGAGCCCCGCGGGTGTCTGTGGAGGGGGCTCCGGTCCAGGTACTGCACTGGACACTGCTCATCCCTGGGTGTCAGGCAGGTGGCTGCACCCTAGGCCAGGCGCAGAGGCCT
GGCAGGCAGGCTTGGCATGGTTGGCCGGGGCGGGACGTACACTGGGTCGCCGCTAGCTGCACCTTCGCACAGATGCCTCCGAGCAGCGGGTGGGCGTGGGCCGCACAGCGCGGCAGGGCCTTGGCTAC
CACACGCGGCATCGCTCCTTGGGGTGCATGGGGGTGCCCCGGGCACAGTGGAACGTGTCTGCGAAGGCGGCCAGGTTCTGCAGCGACCCCAGTACCCTGTGGGTGGGTGGGTGTGACAGCAGGAGCAT
TGCCATCTTGGACAAACATGGCCATTTTAAGTTCTCCGTGATTAAAAACCAGCCCAAAACATCAGCCTAATGGCTCATGTCAGTATGAGCAGAAACATTTCAACCATGAGATAAACCCCCATCTGACC
AGAAACATGCCAATCCTGAGAATAACCTCCCCTCCAGCCAGAGATATTCCAACTCTGCAATAAAACTCTCCTTCACACAGAAACATTCGCAGCCTGCGGTAGGCTCCCCCTTCCTAAACCCTTAAATG
CCCTTAGTCTGTAAGAGAATGTCCCTGACCGAAATCGGCCAGAAGCCCCTCTCAGGTTTATTCCCAAAATAAACCTGTCTCTGTTGAGCCA

hide sequence

RefSeq Acc Id:

NM_001195740 ⟹ NP_001182669

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	2,586,777 - 2,591,468 (+)	NCBI
GRCh37	1	2,517,899 - 2,522,908 (+)	ENTREZGENE
HuRef	1	1,797,135 - 1,802,144 (+)	ENTREZGENE
CHM1_1	1	2,505,268 - 2,509,987 (+)	NCBI
T2T-CHM13v2.0	1	2,028,422 - 2,033,113 (+)	NCBI

Sequence:

show sequence

GGGGCTTGGGGCTGGATCTATGAGCCGGGAGCGGGGATCCAGGAGCGAGGAGCCGGGAGCGGGGAACAGGGAGTCGGGGAGCCGGGAACCAGGGCTGGCAGCGGCCGCCATGAGCACGGTGGACCTTG
CTCGCGTGGGCGCGTGCATCCTGAAGCATGCGGTGACCGGGGAGGCCGTGGAGCTGCGGAGCCTGTGGCGGGAGCACGCGTGCGTGGTGGCCGGGCTGCGGCGCTTCGGGTGCGTGGTGTGCCGCTGG
ATCGCCCAGGACCTCAGCAGCCTTGCTGGGCTCCTGGACCAACACGGCGTGCGCCTGGTGGGCGTAGGGCCCGAGGCCCTGGGTCTGCAGGAGTTCCTGGACGGCGACTACTTCGCGGGAGAGCTCTA
CCTGGATGAGAGCAAGCAGCTTTACAAGGAGCTAGGCTTCAAGCGGTACAACAGCCTGAGCATCCTCCCAGCAGCTCTGGGGAAGCCCGTGCGTGATGTGGCTGCCAAGAAGTCCCCAGGCGACTACG
TCCCCAAGGAGCACATCCTGCAGGTCCTGGGCATCTCTGCGGAGGTCTGTGCCAGCGACCCGCCTCAGTGTGACAGAGAGGTGTGAGGGAGGCGAAGGCCCTGGCCTCCGAGGATCTGGGTGGCGTCT
GCTGCCCTAGGTGTGCTGGAAGTCCACTTGGAAGAACTGTTCCGGAGGCGCTGGGTCGGGATGCCGAACCTCTCCTGATCCGCCGGCAGCAACGAGCCATTAAAACTGCAGTTCCTGACCACGCACTG
CTTCGCAGGCTCCGAGCCCTGCATCCTCCACAGCCCCCGCCTTGCTCACTGTTGGGCCCTCAGGGCGGGCAGGGTGGCTGTGAGTCCCAGGTGTCATCTTCCTGCTCTGCGACTTTCTCTGGAGACCT
TGGGCCTTTGGCCTGTGGGGCACTGGGGATGGTAACCTCACTGCCCCGTCACTCCCTTCAAAGGCGACAGACCCAAGCCCACGTCAGGAGAGGAGCGTGGGGTCAGCTCCAGCAGGGTCGGGGTCAGT
GCCTGTGTCTGGTGGGGGCCACTCAGGAGAGTTGGGTTTTCAGGGCAGAGATGGGCTTGATTCCACCTGGTGGGGTGGGTGGACCCTGGAGACTCTCAGGTGATGGGCCAGCCTGCCCCAAGGCTCTT
TACTGATGTCAGAATCATTGTTTGCACCTGCTGGGTATGGCCTTTGGGGCGGCCGGCCCGGGAGGGTCTTAGTCTAATTAGGTGTGTCCAGCTTCTTGGCCACCTTTCCCTGGGGACCCTAACAGGCC
CAGAGCAGAGCCCCTTACCTCCCAGGTCAGACTACCTGCTCAGGCCCTCCCCTCCCATGCAGGCCGATGACAACTGCAGCCCTCTCTGCACTCCCTAGTCCAGACCTGGGGACCACTGTGGGTTCCTG
TGGGTCTCCCGGCTCCCTTCCTGCCCCCAATGCCACCCTTGCAGTGGCCATTTAAAAATGCATAGCAGGTGACCCACTGCGTCCCTTTGCGTTCAGCCCCTCCTCTGGCTTTCAGTTACACCAAGCTA
AAATTTCAGGTTCCCAGCTGCAGCTCTCTGGGTCCCCCGGTGCCCCAGTGGGGCTCCCCGCATCTGAATGTGTGGTCCCTGGGGGTGGGCACTTGGGGGCATCCTGGTCACTGCTGGCCCTAGCATTG
GACCCTAGGAGACCTGACTGGAACTGGCTCCCTCCCCATCAGCTCCCAGCTGTCACTCTCTCCCACCCCCGGGCAGCTGTTTTGCCCAAGACCACTGCTACCTGTTTACCCACCCTGGTCCCTCCCAG
ACAAGCAAGGCCTCTGATTTCTTTGAAGCATTTACTTAGCTCAAGTCTGAAGCTGTAGATACTGGAAGACAATGCACCTTGGAGGGTGGGCAGGACACAGTTGATTGTCTCTACAGAGCTGTGACGGG
GGCACTGAGCCCCGCGGGTGTCTGTGGAGGGGGCTCCGGTCCAGGTACTGCACTGGACACTGCTCATCCCTGGGTGTCAGGCAGGTGGCTGCACCCTAGGCCAGGCGCAGAGGCCTGGCAGGCAGGCT
TGGCATGGTTGGCCGGGGCGGGACGTACACTGGGTCGCCGCTAGCTGCACCTTCGCACAGATGCCTCCGAGCAGCGGGTGGGCGTGGGCCGCACAGCGCGGCAGGGCCTTGGCTACCACACGCGGCAT
CGCTCCTTGGGGTGCATGGGGGTGCCCCGGGCACAGTGGAACGTGTCTGCGAAGGCGGCCAGGTTCTGCAGCGACCCCAGTACCCTGTGGGTGGGTGGGTGTGACAGCAGGAGCATTGCCATCTTGGA
CAAACATGGCCATTTTAAGTTCTCCGTGATTAAAAACCAGCCCAAAACATCAGCCTAATGGCTCATGTCAGTATGAGCAGAAACATTTCAACCATGAGATAAACCCCCATCTGACCAGAAACATGCCA
ATCCTGAGAATAACCTCCCCTCCAGCCAGAGATATTCCAACTCTGCAATAAAACTCTCCTTCACACAGAAACATTCGCAGCCTGCGGTAGGCTCCCCCTTCCTAAACCCTTAAATGCCCTTAGTCTGT
AAGAGAATGTCCCTGACCGAAATCGGCCAGAAGCCCCTCTCAGGTTTATTCCCAAAATAAACCTGTCTCTGTTGAGCCA

hide sequence

RefSeq Acc Id:

NM_001195741 ⟹ NP_001182670

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	2,586,777 - 2,591,468 (+)	NCBI
GRCh37	1	2,517,899 - 2,522,908 (+)	ENTREZGENE
HuRef	1	1,797,135 - 1,802,144 (+)	ENTREZGENE
CHM1_1	1	2,505,268 - 2,509,987 (+)	NCBI
T2T-CHM13v2.0	1	2,028,422 - 2,033,113 (+)	NCBI

Sequence:

show sequence

GGGGCTTGGGGCTGGATCTATGAGCCGGGAGCGGGGATCCAGGAGCGAGGAGCCGGGAGCGGGGAACAGGGAGTCGGGGAGCCGGGAACCAGGGCTGGCAGCGGCCGCCATGAGCACGGTGGACCTTG
CTCGCGTGGGCGCGTGCATCCTGAAGCATGCGGTGACCGGGGAGGCCGTGGAGCTGCGGAGCCTGTGGCGGGAGCACGCGTGCGTGGTGGCCGGGCTGCGGCGCTTCGGGTGCGTGGTGTGCCGCTGG
ATCGCCCAGGACCTCAGCAGCCTTGCTGGGCTCCTGGACCAACACGGCGTGCGCCTGGTGGGCGTAGGGCCCGAGGCCCTGGGTCTGCAGGAGTTCCTGGACGGCGACTACTTCGCGGGAGAGCTCTA
CCTGGATGAGAGCAAGCAGCTTTACAAGGAGCTAGGCTTCAAGCGGTACAACAGCCTGAGCATCCTCCCAGCAGCTCTGGGGAAGCCCGTGCGTGATGTGGCTGCCAAGTCCCCAGGCGACTACGTCC
CCAAGGAGCACATCCTGCAGGTCCTGGGCATCTCTGCGGAGGTCTGTGCCAGCGACCCGCCTCAGTGTGACAGAGAGGTGTGAGGGAGGCGAAGGCCCTGGCCTCCGAGGATCTGGGTGGCGTCTGCT
GCCCTAGGTGTGCTGGAAGTCCACTTGGAAGAACTGTTCCGGAGGCGCTGGGTCGGGATGCCGAACCTCTCCTGATCCGCCGGCAGCAACGAGCCATTAAAACTGCAGTTCCTGACCACGCACTGCTT
CGCAGGCTCCGAGCCCTGCATCCTCCACAGCCCCCGCCTTGCTCACTGTTGGGCCCTCAGGGCGGGCAGGGTGGCTGTGAGTCCCAGGTGTCATCTTCCTGCTCTGCGACTTTCTCTGGAGACCTTGG
GCCTTTGGCCTGTGGGGCACTGGGGATGGTAACCTCACTGCCCCGTCACTCCCTTCAAAGGCGACAGACCCAAGCCCACGTCAGGAGAGGAGCGTGGGGTCAGCTCCAGCAGGGTCGGGGTCAGTGCC
TGTGTCTGGTGGGGGCCACTCAGGAGAGTTGGGTTTTCAGGGCAGAGATGGGCTTGATTCCACCTGGTGGGGTGGGTGGACCCTGGAGACTCTCAGGTGATGGGCCAGCCTGCCCCAAGGCTCTTTAC
TGATGTCAGAATCATTGTTTGCACCTGCTGGGTATGGCCTTTGGGGCGGCCGGCCCGGGAGGGTCTTAGTCTAATTAGGTGTGTCCAGCTTCTTGGCCACCTTTCCCTGGGGACCCTAACAGGCCCAG
AGCAGAGCCCCTTACCTCCCAGGTCAGACTACCTGCTCAGGCCCTCCCCTCCCATGCAGGCCGATGACAACTGCAGCCCTCTCTGCACTCCCTAGTCCAGACCTGGGGACCACTGTGGGTTCCTGTGG
GTCTCCCGGCTCCCTTCCTGCCCCCAATGCCACCCTTGCAGTGGCCATTTAAAAATGCATAGCAGGTGACCCACTGCGTCCCTTTGCGTTCAGCCCCTCCTCTGGCTTTCAGTTACACCAAGCTAAAA
TTTCAGGTTCCCAGCTGCAGCTCTCTGGGTCCCCCGGTGCCCCAGTGGGGCTCCCCGCATCTGAATGTGTGGTCCCTGGGGGTGGGCACTTGGGGGCATCCTGGTCACTGCTGGCCCTAGCATTGGAC
CCTAGGAGACCTGACTGGAACTGGCTCCCTCCCCATCAGCTCCCAGCTGTCACTCTCTCCCACCCCCGGGCAGCTGTTTTGCCCAAGACCACTGCTACCTGTTTACCCACCCTGGTCCCTCCCAGACA
AGCAAGGCCTCTGATTTCTTTGAAGCATTTACTTAGCTCAAGTCTGAAGCTGTAGATACTGGAAGACAATGCACCTTGGAGGGTGGGCAGGACACAGTTGATTGTCTCTACAGAGCTGTGACGGGGGC
ACTGAGCCCCGCGGGTGTCTGTGGAGGGGGCTCCGGTCCAGGTACTGCACTGGACACTGCTCATCCCTGGGTGTCAGGCAGGTGGCTGCACCCTAGGCCAGGCGCAGAGGCCTGGCAGGCAGGCTTGG
CATGGTTGGCCGGGGCGGGACGTACACTGGGTCGCCGCTAGCTGCACCTTCGCACAGATGCCTCCGAGCAGCGGGTGGGCGTGGGCCGCACAGCGCGGCAGGGCCTTGGCTACCACACGCGGCATCGC
TCCTTGGGGTGCATGGGGGTGCCCCGGGCACAGTGGAACGTGTCTGCGAAGGCGGCCAGGTTCTGCAGCGACCCCAGTACCCTGTGGGTGGGTGGGTGTGACAGCAGGAGCATTGCCATCTTGGACAA
ACATGGCCATTTTAAGTTCTCCGTGATTAAAAACCAGCCCAAAACATCAGCCTAATGGCTCATGTCAGTATGAGCAGAAACATTTCAACCATGAGATAAACCCCCATCTGACCAGAAACATGCCAATC
CTGAGAATAACCTCCCCTCCAGCCAGAGATATTCCAACTCTGCAATAAAACTCTCCTTCACACAGAAACATTCGCAGCCTGCGGTAGGCTCCCCCTTCCTAAACCCTTAAATGCCCTTAGTCTGTAAG
AGAATGTCCCTGACCGAAATCGGCCAGAAGCCCCTCTCAGGTTTATTCCCAAAATAAACCTGTCTCTGTTGAGCCA

hide sequence

RefSeq Acc Id:

NM_152371 ⟹ NP_689584

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	2,586,777 - 2,591,468 (+)	NCBI
GRCh37	1	2,517,899 - 2,522,908 (+)	ENTREZGENE
Build 36	1	2,508,109 - 2,512,762 (+)	NCBI Archive
Celera	1	63,098 - 67,751 (-)	RGD
HuRef	1	1,797,135 - 1,802,144 (+)	ENTREZGENE
CHM1_1	1	2,505,268 - 2,509,987 (+)	NCBI
T2T-CHM13v2.0	1	2,028,422 - 2,033,113 (+)	NCBI

Sequence:

show sequence

GGGGCTTGGGGCTGGATCTATGAGCCGGGAGCGGGGATCCAGGAGCGAGGAGCCGGGAGCGGGGAACAGGGAGTCGGGGAGCCGGGAACCAGGGCTGGCAGCGGCCGCCATGAGCACGGTGGACCTTG
CTCGCGTGGGCGCGTGCATCCTGAAGCATGCGGTGACCGGGGAGGCCGTGGAGCTGCGGAGCCTGTGGCGGGAGCACGCGTGCGTGGTGGCCGGGCTGCGGCGCTTCGGGTGCGTGGTGTGCCGCTGG
ATCGCCCAGGACCTCAGCAGCCTTGCTGGGCTCCTGGACCAACACGGCGTGCGCCTGGTGGGCGTAGGGCCCGAGGCCCTGGGTCTGCAGGAGTTCCTGGACGGCGACTACTTCGCGGGAGAGCTCTA
CCTGGATGAGAGCAAGCAGCTTTACAAGGAGCTAGGCTTCAAGCGGTACAACAGCCTGAGCATCCTCCCAGCAGCTCTGGGGAAGCCCGTGCGTGATGTGGCTGCCAAGGCCAAGGCTGTTGGCATCC
AGGGGAACTTGTCTGGGGACCTGCTGCAGAGCGGAGGGCTGCTGGTGGTCAGCAAAGGTGGTGATAAAGTGCTCCTGCATTTCGTCCAGAAGTCCCCAGGCGACTACGTCCCCAAGGAGCACATCCTG
CAGGTCCTGGGCATCTCTGCGGAGGTCTGTGCCAGCGACCCGCCTCAGTGTGACAGAGAGGTGTGAGGGAGGCGAAGGCCCTGGCCTCCGAGGATCTGGGTGGCGTCTGCTGCCCTAGGTGTGCTGGA
AGTCCACTTGGAAGAACTGTTCCGGAGGCGCTGGGTCGGGATGCCGAACCTCTCCTGATCCGCCGGCAGCAACGAGCCATTAAAACTGCAGTTCCTGACCACGCACTGCTTCGCAGGCTCCGAGCCCT
GCATCCTCCACAGCCCCCGCCTTGCTCACTGTTGGGCCCTCAGGGCGGGCAGGGTGGCTGTGAGTCCCAGGTGTCATCTTCCTGCTCTGCGACTTTCTCTGGAGACCTTGGGCCTTTGGCCTGTGGGG
CACTGGGGATGGTAACCTCACTGCCCCGTCACTCCCTTCAAAGGCGACAGACCCAAGCCCACGTCAGGAGAGGAGCGTGGGGTCAGCTCCAGCAGGGTCGGGGTCAGTGCCTGTGTCTGGTGGGGGCC
ACTCAGGAGAGTTGGGTTTTCAGGGCAGAGATGGGCTTGATTCCACCTGGTGGGGTGGGTGGACCCTGGAGACTCTCAGGTGATGGGCCAGCCTGCCCCAAGGCTCTTTACTGATGTCAGAATCATTG
TTTGCACCTGCTGGGTATGGCCTTTGGGGCGGCCGGCCCGGGAGGGTCTTAGTCTAATTAGGTGTGTCCAGCTTCTTGGCCACCTTTCCCTGGGGACCCTAACAGGCCCAGAGCAGAGCCCCTTACCT
CCCAGGTCAGACTACCTGCTCAGGCCCTCCCCTCCCATGCAGGCCGATGACAACTGCAGCCCTCTCTGCACTCCCTAGTCCAGACCTGGGGACCACTGTGGGTTCCTGTGGGTCTCCCGGCTCCCTTC
CTGCCCCCAATGCCACCCTTGCAGTGGCCATTTAAAAATGCATAGCAGGTGACCCACTGCGTCCCTTTGCGTTCAGCCCCTCCTCTGGCTTTCAGTTACACCAAGCTAAAATTTCAGGTTCCCAGCTG
CAGCTCTCTGGGTCCCCCGGTGCCCCAGTGGGGCTCCCCGCATCTGAATGTGTGGTCCCTGGGGGTGGGCACTTGGGGGCATCCTGGTCACTGCTGGCCCTAGCATTGGACCCTAGGAGACCTGACTG
GAACTGGCTCCCTCCCCATCAGCTCCCAGCTGTCACTCTCTCCCACCCCCGGGCAGCTGTTTTGCCCAAGACCACTGCTACCTGTTTACCCACCCTGGTCCCTCCCAGACAAGCAAGGCCTCTGATTT
CTTTGAAGCATTTACTTAGCTCAAGTCTGAAGCTGTAGATACTGGAAGACAATGCACCTTGGAGGGTGGGCAGGACACAGTTGATTGTCTCTACAGAGCTGTGACGGGGGCACTGAGCCCCGCGGGTG
TCTGTGGAGGGGGCTCCGGTCCAGGTACTGCACTGGACACTGCTCATCCCTGGGTGTCAGGCAGGTGGCTGCACCCTAGGCCAGGCGCAGAGGCCTGGCAGGCAGGCTTGGCATGGTTGGCCGGGGCG
GGACGTACACTGGGTCGCCGCTAGCTGCACCTTCGCACAGATGCCTCCGAGCAGCGGGTGGGCGTGGGCCGCACAGCGCGGCAGGGCCTTGGCTACCACACGCGGCATCGCTCCTTGGGGTGCATGGG
GGTGCCCCGGGCACAGTGGAACGTGTCTGCGAAGGCGGCCAGGTTCTGCAGCGACCCCAGTACCCTGTGGGTGGGTGGGTGTGACAGCAGGAGCATTGCCATCTTGGACAAACATGGCCATTTTAAGT
TCTCCGTGATTAAAAACCAGCCCAAAACATCAGCCTAATGGCTCATGTCAGTATGAGCAGAAACATTTCAACCATGAGATAAACCCCCATCTGACCAGAAACATGCCAATCCTGAGAATAACCTCCCC
TCCAGCCAGAGATATTCCAACTCTGCAATAAAACTCTCCTTCACACAGAAACATTCGCAGCCTGCGGTAGGCTCCCCCTTCCTAAACCCTTAAATGCCCTTAGTCTGTAAGAGAATGTCCCTGACCGA
AATCGGCCAGAAGCCCCTCTCAGGTTTATTCCCAAAATAAACCTGTCTCTGTTGAGCCA

hide sequence

RefSeq Acc Id:

NR_036637

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	2,586,523 - 2,591,468 (+)	NCBI
GRCh37	1	2,517,899 - 2,522,908 (+)	ENTREZGENE
HuRef	1	1,797,135 - 1,802,144 (+)	ENTREZGENE
CHM1_1	1	2,504,978 - 2,509,987 (+)	NCBI
T2T-CHM13v2.0	1	2,028,168 - 2,033,113 (+)	NCBI

Sequence:

show sequence

GAGGAGGCGGGAGGGACCGAAGCAGGCGGACCCAGGATTTGGCGCCGCGATCTCGAGGCTTGGC
CTGGAGCCGTGGAGCTGCGGAGCCTGTGGCGGGAGCACGCGTGCGTGGTGGCCGGGCTGCGGCGCTTCGGGTGCGTGGTGTGCCGCTGGATCGCCCAGGACCTCAGCAGCCTTGCTGGGCTCCTGGAC
CAACACGGCGTGCGCCTGGTGGGCGTAGGGCCCGAGGCCCTGGGTCTGCAGGAGTTCCTGGACGGCGACTACTTCGCGGGAGAGCTCTACCTGGATGAGAGCAAGCAGCTTTACAAGGAGCTAGGCTT
CAAGCGGTACAACAGCCTGAGCATCCTCCCAGCAGCTCTGGGGAAGCCCGTGCGTGATGTGGCTGCCAAGGCCAAGGCTGTTGGCATCCAGGGGAACTTGTCTGGGGACCTGCTGCAGAGCGGAGGGC
TGCTGGTGGTCAGCAAAGGTGGTGATAAAGTGCTCCTGCATTTCGTCCAGAAGTCCCCAGGCGACTACGTCCCCAAGGAGCACATCCTGCAGGTCCTGGGCATCTCTGCGGAGGTCTGTGCCAGCGAC
CCGCCTCAGTGTGACAGAGAGGTGTGAGGGAGGCGAAGGCCCTGGCCTCCGAGGATCTGGGTGGCGTCTGCTGCCCTAGGTGTGCTGGAAGTCCACTTGGAAGAACTGTTCCGGAGGCGCTGGGTCGG
GATGCCGAACCTCTCCTGATCCGCCGGCAGCAACGAGCCATTAAAACTGCAGTTCCTGACCACGCACTGCTTCGCAGGCTCCGAGCCCTGCATCCTCCACAGCCCCCGCCTTGCTCACTGTTGGGCCC
TCAGGGCGGGCAGGGTGGCTGTGAGTCCCAGGTGTCATCTTCCTGCTCTGCGACTTTCTCTGGAGACCTTGGGCCTTTGGCCTGTGGGGCACTGGGGATGGTAACCTCACTGCCCCGTCACTCCCTTC
AAAGGCGACAGACCCAAGCCCACGTCAGGAGAGGAGCGTGGGGTCAGCTCCAGCAGGGTCGGGGTCAGTGCCTGTGTCTGGTGGGGGCCACTCAGGAGAGTTGGGTTTTCAGGGCAGAGATGGGCTTG
ATTCCACCTGGTGGGGTGGGTGGACCCTGGAGACTCTCAGGTGATGGGCCAGCCTGCCCCAAGGCTCTTTACTGATGTCAGAATCATTGTTTGCACCTGCTGGGTATGGCCTTTGGGGCGGCCGGCCC
GGGAGGGTCTTAGTCTAATTAGGTGTGTCCAGCTTCTTGGCCACCTTTCCCTGGGGACCCTAACAGGCCCAGAGCAGAGCCCCTTACCTCCCAGGTCAGACTACCTGCTCAGGCCCTCCCCTCCCATG
CAGGCCGATGACAACTGCAGCCCTCTCTGCACTCCCTAGTCCAGACCTGGGGACCACTGTGGGTTCCTGTGGGTCTCCCGGCTCCCTTCCTGCCCCCAATGCCACCCTTGCAGTGGCCATTTAAAAAT
GCATAGCAGGTGACCCACTGCGTCCCTTTGCGTTCAGCCCCTCCTCTGGCTTTCAGTTACACCAAGCTAAAATTTCAGGTTCCCAGCTGCAGCTCTCTGGGTCCCCCGGTGCCCCAGTGGGGCTCCCC
GCATCTGAATGTGTGGTCCCTGGGGGTGGGCACTTGGGGGCATCCTGGTCACTGCTGGCCCTAGCATTGGACCCTAGGAGACCTGACTGGAACTGGCTCCCTCCCCATCAGCTCCCAGCTGTCACTCT
CTCCCACCCCCGGGCAGCTGTTTTGCCCAAGACCACTGCTACCTGTTTACCCACCCTGGTCCCTCCCAGACAAGCAAGGCCTCTGATTTCTTTGAAGCATTTACTTAGCTCAAGTCTGAAGCTGTAGA
TACTGGAAGACAATGCACCTTGGAGGGTGGGCAGGACACAGTTGATTGTCTCTACAGAGCTGTGACGGGGGCACTGAGCCCCGCGGGTGTCTGTGGAGGGGGCTCCGGTCCAGGTACTGCACTGGACA
CTGCTCATCCCTGGGTGTCAGGCAGGTGGCTGCACCCTAGGCCAGGCGCAGAGGCCTGGCAGGCAGGCTTGGCATGGTTGGCCGGGGCGGGACGTACACTGGGTCGCCGCTAGCTGCACCTTCGCACA
GATGCCTCCGAGCAGCGGGTGGGCGTGGGCCGCACAGCGCGGCAGGGCCTTGGCTACCACACGCGGCATCGCTCCTTGGGGTGCATGGGGGTGCCCCGGGCACAGTGGAACGTGTCTGCGAAGGCGGC
CAGGTTCTGCAGCGACCCCAGTACCCTGTGGGTGGGTGGGTGTGACAGCAGGAGCATTGCCATCTTGGACAAACATGGCCATTTTAAGTTCTCCGTGATTAAAAACCAGCCCAAAACATCAGCCTAAT
GGCTCATGTCAGTATGAGCAGAAACATTTCAACCATGAGATAAACCCCCATCTGACCAGAAACATGCCAATCCTGAGAATAACCTCCCCTCCAGCCAGAGATATTCCAACTCTGCAATAAAACTCTCC
TTCACACAGAAACATTCGCAGCCTGCGGTAGGCTCCCCCTTCCTAAACCCTTAAATGCCCTTAGTCTGTAAGAGAATGTCCCTGACCGAAATCGGCCAGAAGCCCCTCTCAGGTTTATTCCCAAAATA
AACCTGTCTCTGTTGAGCCA

hide sequence

RefSeq Acc Id:

NR_036638

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	2,586,523 - 2,591,468 (+)	NCBI
GRCh37	1	2,517,899 - 2,522,908 (+)	ENTREZGENE
HuRef	1	1,797,135 - 1,802,144 (+)	ENTREZGENE
CHM1_1	1	2,504,978 - 2,509,987 (+)	NCBI
T2T-CHM13v2.0	1	2,028,168 - 2,033,113 (+)	NCBI

Sequence:

show sequence

GAGGAGGCGGGAGGGACCGAAGCAGGCGGACCCAGGATTTGGCGCCGCGATCTCGAGGCTTGGC
CTGGAGCCGTGGAGCTGCGGAGCCTGTGGCGGGAGCACGCGTGCGTGGTGGCCGGGCTGCGGCGCTTCGGGTGCGTGGTGTGCCGCTGGATCGCCCAGGACCTCAGCAGCCTTGCTGGGCTCCTGGAC
CAACACGGCGTGCGCCTGGTGGGCGTAGGGCCCGAGGCCCTGGGTCTGCAGGAGTTCCTGGACGGCGACTACTTCGCGGGAGAGCTCTACCTGGATGAGAGCAAGCAGCTTTACAAGGAGCTAGGCTT
CAAGCGGTACAACAGCCTGAGCATCCTCCCAGCAGCTCTGGGGAAGCCCGTGCGTGATGTGGCTGCCAAGGCCAAGGCTGTTGGCATCCAGGGGAACTTGTCTGGGGACCTGCTGCAGAGCGGAGGGC
TGCTGGTGGTCAGCAAAGAAGTCCCCAGGCGACTACGTCCCCAAGGAGCACATCCTGCAGGTCCTGGGCATCTCTGCGGAGGTCTGTGCCAGCGACCCGCCTCAGTGTGACAGAGAGGTGTGAGGGAG
GCGAAGGCCCTGGCCTCCGAGGATCTGGGTGGCGTCTGCTGCCCTAGGTGTGCTGGAAGTCCACTTGGAAGAACTGTTCCGGAGGCGCTGGGTCGGGATGCCGAACCTCTCCTGATCCGCCGGCAGCA
ACGAGCCATTAAAACTGCAGTTCCTGACCACGCACTGCTTCGCAGGCTCCGAGCCCTGCATCCTCCACAGCCCCCGCCTTGCTCACTGTTGGGCCCTCAGGGCGGGCAGGGTGGCTGTGAGTCCCAGG
TGTCATCTTCCTGCTCTGCGACTTTCTCTGGAGACCTTGGGCCTTTGGCCTGTGGGGCACTGGGGATGGTAACCTCACTGCCCCGTCACTCCCTTCAAAGGCGACAGACCCAAGCCCACGTCAGGAGA
GGAGCGTGGGGTCAGCTCCAGCAGGGTCGGGGTCAGTGCCTGTGTCTGGTGGGGGCCACTCAGGAGAGTTGGGTTTTCAGGGCAGAGATGGGCTTGATTCCACCTGGTGGGGTGGGTGGACCCTGGAG
ACTCTCAGGTGATGGGCCAGCCTGCCCCAAGGCTCTTTACTGATGTCAGAATCATTGTTTGCACCTGCTGGGTATGGCCTTTGGGGCGGCCGGCCCGGGAGGGTCTTAGTCTAATTAGGTGTGTCCAG
CTTCTTGGCCACCTTTCCCTGGGGACCCTAACAGGCCCAGAGCAGAGCCCCTTACCTCCCAGGTCAGACTACCTGCTCAGGCCCTCCCCTCCCATGCAGGCCGATGACAACTGCAGCCCTCTCTGCAC
TCCCTAGTCCAGACCTGGGGACCACTGTGGGTTCCTGTGGGTCTCCCGGCTCCCTTCCTGCCCCCAATGCCACCCTTGCAGTGGCCATTTAAAAATGCATAGCAGGTGACCCACTGCGTCCCTTTGCG
TTCAGCCCCTCCTCTGGCTTTCAGTTACACCAAGCTAAAATTTCAGGTTCCCAGCTGCAGCTCTCTGGGTCCCCCGGTGCCCCAGTGGGGCTCCCCGCATCTGAATGTGTGGTCCCTGGGGGTGGGCA
CTTGGGGGCATCCTGGTCACTGCTGGCCCTAGCATTGGACCCTAGGAGACCTGACTGGAACTGGCTCCCTCCCCATCAGCTCCCAGCTGTCACTCTCTCCCACCCCCGGGCAGCTGTTTTGCCCAAGA
CCACTGCTACCTGTTTACCCACCCTGGTCCCTCCCAGACAAGCAAGGCCTCTGATTTCTTTGAAGCATTTACTTAGCTCAAGTCTGAAGCTGTAGATACTGGAAGACAATGCACCTTGGAGGGTGGGC
AGGACACAGTTGATTGTCTCTACAGAGCTGTGACGGGGGCACTGAGCCCCGCGGGTGTCTGTGGAGGGGGCTCCGGTCCAGGTACTGCACTGGACACTGCTCATCCCTGGGTGTCAGGCAGGTGGCTG
CACCCTAGGCCAGGCGCAGAGGCCTGGCAGGCAGGCTTGGCATGGTTGGCCGGGGCGGGACGTACACTGGGTCGCCGCTAGCTGCACCTTCGCACAGATGCCTCCGAGCAGCGGGTGGGCGTGGGCCG
CACAGCGCGGCAGGGCCTTGGCTACCACACGCGGCATCGCTCCTTGGGGTGCATGGGGGTGCCCCGGGCACAGTGGAACGTGTCTGCGAAGGCGGCCAGGTTCTGCAGCGACCCCAGTACCCTGTGGG
TGGGTGGGTGTGACAGCAGGAGCATTGCCATCTTGGACAAACATGGCCATTTTAAGTTCTCCGTGATTAAAAACCAGCCCAAAACATCAGCCTAATGGCTCATGTCAGTATGAGCAGAAACATTTCAA
CCATGAGATAAACCCCCATCTGACCAGAAACATGCCAATCCTGAGAATAACCTCCCCTCCAGCCAGAGATATTCCAACTCTGCAATAAAACTCTCCTTCACACAGAAACATTCGCAGCCTGCGGTAGG
CTCCCCCTTCCTAAACCCTTAAATGCCCTTAGTCTGTAAGAGAATGTCCCTGACCGAAATCGGCCAGAAGCCCCTCTCAGGTTTATTCCCAAAATAAACCTGTCTCTGTTGAGCCA

hide sequence

RefSeq Acc Id:

XM_006710354 ⟹ XP_006710417

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	2,586,777 - 2,591,468 (+)	NCBI

Sequence:

show sequence

TTGGGGCTGGATCTATGAGCCGGGAGCGGGGATCCAGGAGCGAGGAGCCGGGAGCGGGGAACAGGGAGTCGGGGAGCCGGGAACCAGGGCTGGCAGCGGCCGCCATGAGCACGGTGGACCTTGCTCGC
GTGGGCGCGTGCATCCTGAAGCATGCGGTGACCGGGGAGGCCGTGGAGCTGCGGAGCCTGTGGCGGGAGCACGCGTGCGTGGTGGCCGGGCTGCGGCGCTTCGGGTGCGTGGTGTGCCGCTGGATCGC
CCAGGACCTCAGCAGCCTTGCTGGGCTCCTGGACCAACACGGCGTGCGCCTGGTGGGCGTAGGGCCCGAGGCCCTGGGTCTGCAGGAGTTCCTGGACGGCGACTACTTCGCGGGAGAGCTCTACCTGG
ATGAGAGCAAGCAGCTTTACAAGGAGCTAGGCTTCAAGCGGTACAACAGCCTGAGCATCCTCCCAGCAGCTCTGGGGAAGCCCGTGCGTGATGTGGCTGCCAAGGCTGTACCCACTCCTGACAGGCCA
AGGCTGTTGGCATCCAGGGGAACTTGTCTGGGGACCTGCTGCAGAGCGGAGGGCTGCTGGTGGTCAGCAAAGGTGGTGATAAAGTGCTCCTGCATTTCGTCCAGAAGTCCCCAGGCGACTACGTCCCC
AAGGAGCACATCCTGCAGGTCCTGGGCATCTCTGCGGAGGTCTGTGCCAGCGACCCGCCTCAGTGTGACAGAGAGGTGTGAGGGAGGCGAAGGCCCTGGCCTCCGAGGATCTGGGTGGCGTCTGCTGC
CCTAGGTGTGCTGGAAGTCCACTTGGAAGAACTGTTCCGGAGGCGCTGGGTCGGGATGCCGAACCTCTCCTGATCCGCCGGCAGCAACGAGCCATTAAAACTGCAGTTCCTGACCACGCACTGCTTCG
CAGGCTCCGAGCCCTGCATCCTCCACAGCCCCCGCCTTGCTCACTGTTGGGCCCTCAGGGCGGGCAGGGTGGCTGTGAGTCCCAGGTGTCATCTTCCTGCTCTGCGACTTTCTCTGGAGACCTTGGGC
CTTTGGCCTGTGGGGCACTGGGGATGGTAACCTCACTGCCCCGTCACTCCCTTCAAAGGCGACAGACCCAAGCCCACGTCAGGAGAGGAGCGTGGGGTCAGCTCCAGCAGGGTCGGGGTCAGTGCCTG
TGTCTGGTGGGGGCCACTCAGGAGAGTTGGGTTTTCAGGGCAGAGATGGGCTTGATTCCACCTGGTGGGGTGGGTGGACCCTGGAGACTCTCAGGTGATGGGCCAGCCTGCCCCAAGGCTCTTTACTG
ATGTCAGAATCATTGTTTGCACCTGCTGGGTATGGCCTTTGGGGCGGCCGGCCCGGGAGGGTCTTAGTCTAATTAGGTGTGTCCAGCTTCTTGGCCACCTTTCCCTGGGGACCCTAACAGGCCCAGAG
CAGAGCCCCTTACCTCCCAGGTCAGACTACCTGCTCAGGCCCTCCCCTCCCATGCAGGCCGATGACAACTGCAGCCCTCTCTGCACTCCCTAGTCCAGACCTGGGGACCACTGTGGGTTCCTGTGGGT
CTCCCGGCTCCCTTCCTGCCCCCAATGCCACCCTTGCAGTGGCCATTTAAAAATGCATAGCAGGTGACCCACTGCGTCCCTTTGCGTTCAGCCCCTCCTCTGGCTTTCAGTTACACCAAGCTAAAATT
TCAGGTTCCCAGCTGCAGCTCTCTGGGTCCCCCGGTGCCCCAGTGGGGCTCCCCGCATCTGAATGTGTGGTCCCTGGGGGTGGGCACTTGGGGGCATCCTGGTCACTGCTGGCCCTAGCATTGGACCC
TAGGAGACCTGACTGGAACTGGCTCCCTCCCCATCAGCTCCCAGCTGTCACTCTCTCCCACCCCCGGGCAGCTGTTTTGCCCAAGACCACTGCTACCTGTTTACCCACCCTGGTCCCTCCCAGACAAG
CAAGGCCTCTGATTTCTTTGAAGCATTTACTTAGCTCAAGTCTGAAGCTGTAGATACTGGAAGACAATGCACCTTGGAGGGTGGGCAGGACACAGTTGATTGTCTCTACAGAGCTGTGACGGGGGCAC
TGAGCCCCGCGGGTGTCTGTGGAGGGGGCTCCGGTCCAGGTACTGCACTGGACACTGCTCATCCCTGGGTGTCAGGCAGGTGGCTGCACCCTAGGCCAGGCGCAGAGGCCTGGCAGGCAGGCTTGGCA
TGGTTGGCCGGGGCGGGACGTACACTGGGTCGCCGCTAGCTGCACCTTCGCACAGATGCCTCCGAGCAGCGGGTGGGCGTGGGCCGCACAGCGCGGCAGGGCCTTGGCTACCACACGCGGCATCGCTC
CTTGGGGTGCATGGGGGTGCCCCGGGCACAGTGGAACGTGTCTGCGAAGGCGGCCAGGTTCTGCAGCGACCCCAGTACCCTGTGGGTGGGTGGGTGTGACAGCAGGAGCATTGCCATCTTGGACAAAC
ATGGCCATTTTAAGTTCTCCGTGATTAAAAACCAGCCCAAAACATCAGCCTAATGGCTCATGTCAGTATGAGCAGAAACATTTCAACCATGAGATAAACCCCCATCTGACCAGAAACATGCCAATCCT
GAGAATAACCTCCCCTCCAGCCAGAGATATTCCAACTCTGCAATAAAACTCTCCTTCACACAGAAACATTCGCAGCCTGCGGTAGGCTCCCCCTTCCTAAACCCTTAAATGCCCTTAGTCTGTAAGAG
AATGTCCCTGACCGAAATCGGCCAGAAGCCCCTCTCAGGTTTATTCCCAAAATAAACCTGTCTCTGTTGAGCCAC

hide sequence

RefSeq Acc Id:

XM_011540665 ⟹ XP_011538967

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	2,586,777 - 2,591,468 (+)	NCBI

Sequence:

show sequence

GCTTGGGGCTGGATCTATGAGCCGGGAGCGGGGATCCAGGAGCGAGGAGCCGGGAGCGGGGAACAGGGAGTCGGGGAGCCGGGAACCAGGGCTGGCAGCGGCCGCCATGAGCACGGTGGACCTTGCTC
GCGTGGGCGCGTGCATCCTGAAGCATGCGGTGACCGGGGAGGCCGTGGAGCTGCGGAGCCTGTGGCGGGAGCACGCGTGCGTGGTGGCCGGGCTGCGGCGCTTCGGGTGCGTGGTGTGCCGCTGGATC
GCCCAGGACCTCAGCAGCCTTGCTGGGCTCCTGGACCAACACGGCGTGCGCCTGGTGGGCGTAGGGCCCGAGGCCCTGGGTCTGCAGGAGTTCCTGGACGGCGACTACTTCGCGGGAGAGCTCTACCT
GGATGAGAGCAAGCAGCTTTACAAGGAGCTAGGCTTCAAGCGGCTCTGGACCCAGGCTTCTCCGGAGTTTGGCCAAGCGACCTGGTGTCTTCGCAGGTACAACAGCCTGAGCATCCTCCCAGCAGCTC
TGGGGAAGCCCGTGCGTGATGTGGCTGCCAAGGCTGTACCCACTCCTGACAGGCCAAGGCTGTTGGCATCCAGGGGAACTTGTCTGGGGACCTGCTGCAGAGCGGAGGGCTGCTGGTGGTCAGCAAAG
AAGTCCCCAGGCGACTACGTCCCCAAGGAGCACATCCTGCAGGTCCTGGGCATCTCTGCGGAGGTCTGTGCCAGCGACCCGCCTCAGTGTGACAGAGAGGTGTGAGGGAGGCGAAGGCCCTGGCCTCC
GAGGATCTGGGTGGCGTCTGCTGCCCTAGGTGTGCTGGAAGTCCACTTGGAAGAACTGTTCCGGAGGCGCTGGGTCGGGATGCCGAACCTCTCCTGATCCGCCGGCAGCAACGAGCCATTAAAACTGC
AGTTCCTGACCACGCACTGCTTCGCAGGCTCCGAGCCCTGCATCCTCCACAGCCCCCGCCTTGCTCACTGTTGGGCCCTCAGGGCGGGCAGGGTGGCTGTGAGTCCCAGGTGTCATCTTCCTGCTCTG
CGACTTTCTCTGGAGACCTTGGGCCTTTGGCCTGTGGGGCACTGGGGATGGTAACCTCACTGCCCCGTCACTCCCTTCAAAGGCGACAGACCCAAGCCCACGTCAGGAGAGGAGCGTGGGGTCAGCTC
CAGCAGGGTCGGGGTCAGTGCCTGTGTCTGGTGGGGGCCACTCAGGAGAGTTGGGTTTTCAGGGCAGAGATGGGCTTGATTCCACCTGGTGGGGTGGGTGGACCCTGGAGACTCTCAGGTGATGGGCC
AGCCTGCCCCAAGGCTCTTTACTGATGTCAGAATCATTGTTTGCACCTGCTGGGTATGGCCTTTGGGGCGGCCGGCCCGGGAGGGTCTTAGTCTAATTAGGTGTGTCCAGCTTCTTGGCCACCTTTCC
CTGGGGACCCTAACAGGCCCAGAGCAGAGCCCCTTACCTCCCAGGTCAGACTACCTGCTCAGGCCCTCCCCTCCCATGCAGGCCGATGACAACTGCAGCCCTCTCTGCACTCCCTAGTCCAGACCTGG
GGACCACTGTGGGTTCCTGTGGGTCTCCCGGCTCCCTTCCTGCCCCCAATGCCACCCTTGCAGTGGCCATTTAAAAATGCATAGCAGGTGACCCACTGCGTCCCTTTGCGTTCAGCCCCTCCTCTGGC
TTTCAGTTACACCAAGCTAAAATTTCAGGTTCCCAGCTGCAGCTCTCTGGGTCCCCCGGTGCCCCAGTGGGGCTCCCCGCATCTGAATGTGTGGTCCCTGGGGGTGGGCACTTGGGGGCATCCTGGTC
ACTGCTGGCCCTAGCATTGGACCCTAGGAGACCTGACTGGAACTGGCTCCCTCCCCATCAGCTCCCAGCTGTCACTCTCTCCCACCCCCGGGCAGCTGTTTTGCCCAAGACCACTGCTACCTGTTTAC
CCACCCTGGTCCCTCCCAGACAAGCAAGGCCTCTGATTTCTTTGAAGCATTTACTTAGCTCAAGTCTGAAGCTGTAGATACTGGAAGACAATGCACCTTGGAGGGTGGGCAGGACACAGTTGATTGTC
TCTACAGAGCTGTGACGGGGGCACTGAGCCCCGCGGGTGTCTGTGGAGGGGGCTCCGGTCCAGGTACTGCACTGGACACTGCTCATCCCTGGGTGTCAGGCAGGTGGCTGCACCCTAGGCCAGGCGCA
GAGGCCTGGCAGGCAGGCTTGGCATGGTTGGCCGGGGCGGGACGTACACTGGGTCGCCGCTAGCTGCACCTTCGCACAGATGCCTCCGAGCAGCGGGTGGGCGTGGGCCGCACAGCGCGGCAGGGCCT
TGGCTACCACACGCGGCATCGCTCCTTGGGGTGCATGGGGGTGCCCCGGGCACAGTGGAACGTGTCTGCGAAGGCGGCCAGGTTCTGCAGCGACCCCAGTACCCTGTGGGTGGGTGGGTGTGACAGCA
GGAGCATTGCCATCTTGGACAAACATGGCCATTTTAAGTTCTCCGTGATTAAAAACCAGCCCAAAACATCAGCCTAATGGCTCATGTCAGTATGAGCAGAAACATTTCAACCATGAGATAAACCCCCA
TCTGACCAGAAACATGCCAATCCTGAGAATAACCTCCCCTCCAGCCAGAGATATTCCAACTCTGCAATAAAACTCTCCTTCACACAGAAACATTCGCAGCCTGCGGTAGGCTCCCCCTTCCTAAACCC
TTAAATGCCCTTAGTCTGTAAGAGAATGTCCCTGACCGAAATCGGCCAGAAGCCCCTCTCAGGTTTATTCCCAAAATAAACCTGTCTCTGTTGAGCCAC

hide sequence

RefSeq Acc Id:

XM_047445405 ⟹ XP_047301361

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	2,586,777 - 2,591,468 (+)	NCBI

RefSeq Acc Id:

XM_047445406 ⟹ XP_047301362

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	2,586,777 - 2,591,468 (+)	NCBI

RefSeq Acc Id:

XM_054334333 ⟹ XP_054190308

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	2,028,422 - 2,033,113 (+)	NCBI

RefSeq Acc Id:

XM_054334334 ⟹ XP_054190309

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	2,028,422 - 2,033,113 (+)	NCBI

RefSeq Acc Id:

XM_054334335 ⟹ XP_054190310

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	2,028,422 - 2,033,113 (+)	NCBI

RefSeq Acc Id:

XM_054334336 ⟹ XP_054190311

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	2,028,422 - 2,033,113 (+)	NCBI


Protein RefSeqs	NP_001182665	(Get FASTA)	NCBI Sequence Viewer
	NP_001182666	(Get FASTA)	NCBI Sequence Viewer
	NP_001182667	(Get FASTA)	NCBI Sequence Viewer
	NP_001182669	(Get FASTA)	NCBI Sequence Viewer
	NP_001182670	(Get FASTA)	NCBI Sequence Viewer
	NP_689584	(Get FASTA)	NCBI Sequence Viewer
	XP_006710417	(Get FASTA)	NCBI Sequence Viewer
	XP_011538967	(Get FASTA)	NCBI Sequence Viewer
	XP_047301361	(Get FASTA)	NCBI Sequence Viewer
	XP_047301362	(Get FASTA)	NCBI Sequence Viewer
	XP_054184576	(Get FASTA)	NCBI Sequence Viewer
	XP_054184577	(Get FASTA)	NCBI Sequence Viewer
	XP_054184578	(Get FASTA)	NCBI Sequence Viewer
	XP_054184579	(Get FASTA)	NCBI Sequence Viewer
	XP_054190308	(Get FASTA)	NCBI Sequence Viewer
	XP_054190309	(Get FASTA)	NCBI Sequence Viewer
	XP_054190310	(Get FASTA)	NCBI Sequence Viewer
	XP_054190311	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH22547	(Get FASTA)	NCBI Sequence Viewer
	AAP97295	(Get FASTA)	NCBI Sequence Viewer
	BAC11511	(Get FASTA)	NCBI Sequence Viewer
	BAF84597	(Get FASTA)	NCBI Sequence Viewer
	BAG51845	(Get FASTA)	NCBI Sequence Viewer
	BAG61031	(Get FASTA)	NCBI Sequence Viewer
	BAG64537	(Get FASTA)	NCBI Sequence Viewer
	BAH14614	(Get FASTA)	NCBI Sequence Viewer
	EAW56083	(Get FASTA)	NCBI Sequence Viewer
	EAW56084	(Get FASTA)	NCBI Sequence Viewer
	EAW56085	(Get FASTA)	NCBI Sequence Viewer
	EAW56086	(Get FASTA)	NCBI Sequence Viewer
	EAW56087	(Get FASTA)	NCBI Sequence Viewer
	EAW56088	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000367681
	ENSP00000367681.5
	ENSP00000367682
	ENSP00000367684
	ENSP00000367684.2
	ENSP00000394405
	ENSP00000394405.4
	ENSP00000413218
	ENSP00000443605
GenBank Protein	Q8TBF2	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_689584 ⟸ NM_152371
- Peptide Label:	isoform b
- UniProtKB:	Q8TBF2 (UniProtKB/Swiss-Prot), J3KQD0 (UniProtKB/Swiss-Prot), B9DI92 (UniProtKB/Swiss-Prot), B9DI90 (UniProtKB/Swiss-Prot), B7ZAC8 (UniProtKB/Swiss-Prot), B4E0S5 (UniProtKB/Swiss-Prot), B4DQR9 (UniProtKB/Swiss-Prot), B3KPY3 (UniProtKB/Swiss-Prot), A8K793 (UniProtKB/Swiss-Prot), Q8N2H0 (UniProtKB/Swiss-Prot), A0A2P0CTB1 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSTVDLARVGACILKHAVTGEAVELRSLWREHACVVAGLRRFGCVVCRWIAQDLSSLAGLLDQHGVRLVGVGPEALGLQEFLDGDYFAGELYLDESKQLYKELGFKRYNSLSILPAALGKPVRDVAAK AKAVGIQGNLSGDLLQSGGLLVVSKGGDKVLLHFVQKSPGDYVPKEHILQVLGISAEVCASDPPQCDREV hide sequence

RefSeq Acc Id:	NP_001182665 ⟸ NM_001195736
- Peptide Label:	isoform a
- UniProtKB:	A0A0A0MT35 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSTVDLARVGACILKHAVTGEAVELRSLWREHACVVAGLRRFGCVVCRWIAQDLSSLAGLLDQHGVRLVGVGPEALGLQEFLDGDYFAGELYLDESKQLYKELGFKRLWTQASPEFGQATWCLRRYNS LSILPAALGKPVRDVAAKAKAVGIQGNLSGDLLQSGGLLVVSKGGDKVLLHFVQKSPGDYVPKEHILQVLGISAEVCASDPPQCDREV hide sequence

RefSeq Acc Id:	NP_001182666 ⟸ NM_001195737
- Peptide Label:	isoform c
- UniProtKB:	J3KRV9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSTVDLARVGACILKHAVTGEAVELRSLWREHACVVAGLRRFGCVVCRWIAQDLSSLAGLLDQHGVRLVGVGPEALGLQEFLDGDYFAGELYLDESKQLYKELGFKRYNSLSILPAALGKPVRDVAAK AVPTPDRPRLLASRGTCLGTCCRAEGCWWSAKKSPGDYVPKEHILQVLGISAEVCASDPPQCDREV hide sequence

RefSeq Acc Id:	NP_001182667 ⟸ NM_001195738
- Peptide Label:	isoform d
- UniProtKB:	J3KPF6 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSTVDLARVGACILKHAVTGEAVELRSLWREHACVVAGLRRFGCVVCRWIAQDLSSLAGLLDQHGVRLVGVGPEALGLQEFLDGDYFAGELYLDESKQLYKELGFKRYNSLSILPAALGKPVRDVAAK AKAVGIQGNLSGDLLQSGGLLVVSKEVPRRLRPQGAHPAGPGHLCGGLCQRPASV hide sequence

RefSeq Acc Id:	NP_001182669 ⟸ NM_001195740
- Peptide Label:	isoform e
- UniProtKB:	A0A0A0MRV4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSTVDLARVGACILKHAVTGEAVELRSLWREHACVVAGLRRFGCVVCRWIAQDLSSLAGLLDQH GVRLVGVGPEALGLQEFLDGDYFAGELYLDESKQLYKELGFKRYNSLSILPAALGKPVRDVAAKKSPGDYVPKEHILQVLGISAEVCASDPPQCDREV hide sequence

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8TBF2-F1-model_v2	AlphaFold	Q8TBF2	1-198	view protein structure

RGD ID:

6784832

Promoter ID:

HG_KWN:305

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, NB4

Transcripts:

ENST00000378427, OTTHUMT00000002401, OTTHUMT00000002402, OTTHUMT00000002404, OTTHUMT00000002406, OTTHUMT00000002407, OTTHUMT00000002408, OTTHUMT00000002409, OTTHUMT00000002410, OTTHUMT00000002411, OTTHUMT00000002412, OTTHUMT00000002413, UC001AJV.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	2,506,931 - 2,508,457 (+)	MPROMDB

RGD ID:

6853834

Promoter ID:

EPDNEW_H82

Type:

initiation region

Name:

FAM213B_2

Description:

family with sequence similarity 213 member B

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H83

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	2,586,523 - 2,586,583	EPDNEW

RGD ID:

6853836

Promoter ID:

EPDNEW_H83

Type:

initiation region

Name:

FAM213B_1

Description:

family with sequence similarity 213 member B

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H82

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	2,586,798 - 2,586,858	EPDNEW

Database	Acc Id	Source(s)
COSMIC	PRXL2B	COSMIC
Ensembl Genes	ENSG00000157870	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000378424	ENTREZGENE
	ENST00000378424.9	UniProtKB/Swiss-Prot
	ENST00000378425	ENTREZGENE
	ENST00000378427	ENTREZGENE
	ENST00000378427.6	UniProtKB/Swiss-Prot
	ENST00000419916	ENTREZGENE
	ENST00000419916.8	UniProtKB/Swiss-Prot
	ENST00000444521	ENTREZGENE
	ENST00000484099	ENTREZGENE
	ENST00000537325	ENTREZGENE
GTEx	ENSG00000157870	GTEx
HGNC ID	HGNC:28390	ENTREZGENE
Human Proteome Map	PRXL2B	Human Proteome Map
InterPro	PXL2A/B/C	UniProtKB/Swiss-Prot
	Thioredoxin-like_sf	UniProtKB/Swiss-Prot
KEGG Report	hsa:127281	UniProtKB/Swiss-Prot
NCBI Gene	127281	ENTREZGENE
PANTHER	PROSTAMIDE/PROSTAGLANDIN F SYNTHASE	UniProtKB/Swiss-Prot
	PTHR28630	UniProtKB/Swiss-Prot
Pfam	AhpC-TSA_2	UniProtKB/Swiss-Prot
PharmGKB	PA142672477	PharmGKB
RNAcentral	URS0002617B31	RNACentral
	URS0002617B99	RNACentral
	URS0002617DE3	RNACentral
	URS0002617E77	RNACentral
	URS0002618463	RNACentral
Superfamily-SCOP	SSF52833	UniProtKB/Swiss-Prot
UniProt	A0A0A0MRV4	ENTREZGENE, UniProtKB/TrEMBL
	A0A0A0MT35	ENTREZGENE, UniProtKB/TrEMBL
	A0A0G2JRR6_HUMAN	UniProtKB/TrEMBL
	A0A0G2JSF1_HUMAN	UniProtKB/TrEMBL
	A0A2P0CTB1	ENTREZGENE, UniProtKB/TrEMBL
	A0A2P0CTH9	ENTREZGENE, UniProtKB/TrEMBL
	A0A2P0CU24	ENTREZGENE, UniProtKB/TrEMBL
	A8K793	ENTREZGENE
	B3KPY3	ENTREZGENE
	B4DQR9	ENTREZGENE
	B4E0S5	ENTREZGENE
	B7ZAC8	ENTREZGENE
	B9DI90	ENTREZGENE
	B9DI92	ENTREZGENE
	J3KPF5	ENTREZGENE, UniProtKB/TrEMBL
	J3KPF6	ENTREZGENE, UniProtKB/TrEMBL
	J3KQD0	ENTREZGENE
	J3KRV9	ENTREZGENE, UniProtKB/TrEMBL
	J3QKK8_HUMAN	UniProtKB/TrEMBL
	PXL2B_HUMAN	UniProtKB/Swiss-Prot
	Q8N2H0	ENTREZGENE
	Q8TBF2	ENTREZGENE
UniProt Secondary	A8K793	UniProtKB/Swiss-Prot
	B3KPY3	UniProtKB/Swiss-Prot
	B4DQR9	UniProtKB/Swiss-Prot
	B4E0S5	UniProtKB/Swiss-Prot
	B7ZAC8	UniProtKB/Swiss-Prot
	B9DI90	UniProtKB/Swiss-Prot
	B9DI92	UniProtKB/Swiss-Prot
	J3KQD0	UniProtKB/Swiss-Prot
	Q8N2H0	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2018-07-24	PRXL2B	peroxiredoxin like 2B	FAM213B	family with sequence similarity 213 member B	Symbol and/or name change	5135510	APPROVED
2015-11-24	FAM213B	family with sequence similarity 213 member B		family with sequence similarity 213, member B	Symbol and/or name change	5135510	APPROVED
2011-11-29	FAM213B	family with sequence similarity 213, member B	C1orf93	chromosome 1 open reading frame 93	Symbol and/or name change	5135510	APPROVED

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 Disease Annotations - CTD

RGD Manual Annotations

Imported Annotations - SMPDB

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Imported Disease Annotations - CTD

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Imported Annotations - SMPDB