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Gene: RBPJ (recombination signal binding protein for immunoglobulin kappa J region) Homo sapiens

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Symbol:

RBPJ

Name:

recombination signal binding protein for immunoglobulin kappa J region

RGD ID:

1321529

HGNC Page

HGNC:5724

Description:

Enables DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in heart development; regulation of generation of precursor metabolites and energy; and regulation of transcription by RNA polymerase II. Located in cytoplasm; nucleolus; and nucleoplasm. Part of MAML1-RBP-Jkappa- ICN1 complex and transcription repressor complex. Implicated in Adams-Oliver syndrome and dilated cardiomyopathy.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

AOS3; CBF-1; CBF1; csl; CSL family DNA binding factor 1; H-2K binding factor-2; IGKJRB; IGKJRB1; immunoglobulin kappa J region recombination signal binding protein 1; j kappa-recombination signal-binding protein; KBF2; MGC61669; RBP-J; RBP-J kappa; RBP-JK; RBPJK; RBPSUH; recombining binding protein suppressor of hairless; recombining binding protein suppressor of hairless (drosophila); renal carcinoma antigen NY-REN-30; SUH; suppressor of hairless homolog

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Related Pseudogenes:

RBPJP1 RBPJP2 RBPJP3 RBPJP4 RBPJP5 RBPJP6 RBPJP7

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	4	26,105,449 - 26,435,131 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	4	26,163,455 - 26,435,131 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	4	26,165,080 - 26,436,753 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	4	25,930,430 - 26,042,376 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	4	26,771,681 - 26,884,040 (+)	NCBI		Celera
Cytogenetic Map	4	p15.2	NCBI
HuRef	4	25,659,979 - 25,775,063 (+)	NCBI		HuRef
CHM1_1	4	26,322,549 - 26,437,875 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	4	26,087,631 - 26,420,111 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
RBPJ	Human	dilated cardiomyopathy		IAGP		1581297		RGD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
RBPJ	Human	Adams-Oliver Syndrome 3		IAGP	RGD:151663438\|RGD:156106216\|RGD:405271578	8554872	ClinVar Annotator: match by term: Adams-Oliver syndrome 3 \| ClinVar Annotator: match by term: RBPJ-related more ...	ClinVar	PMID:28492532
RBPJ	Human	Adams-Oliver Syndrome 3		IAGP	RGD:8569904\|RGD:8569905	8554872	ClinVar Annotator: match by term: Adams-Oliver syndrome 3	ClinVar	PMID:22883147
RBPJ	Human	Adams-Oliver Syndrome 3		IAGP	RGD:13704921\|RGD:13704922\|RGD:13704923	8554872	ClinVar Annotator: match by term: Adams-Oliver syndrome 3	ClinVar	PMID:29924900
RBPJ	Human	Adams-Oliver Syndrome 3		IAGP	RGD:155798752\|RGD:155799618\|RGD:243056147	8554872	ClinVar Annotator: match by term: Adams-Oliver syndrome 3 \| ClinVar Annotator: match by term: RBPJ-related more ...	ClinVar	PMID:25741868
RBPJ	Human	Adams-Oliver Syndrome 3		IAGP	RGD:15149388\|RGD:15195019	8554872	ClinVar Annotator: match by term: RBPJ-related condition	ClinVar	PMID:25741868\|PMID:28492532
RBPJ	Human	Adams-Oliver Syndrome 3		IAGP	RGD:153301031	8554872	ClinVar Annotator: match by term: Adams-Oliver syndrome 3	ClinVar
RBPJ	Human	genetic disease		IAGP	RGD:13531520\|RGD:155962842\|RGD:156048165\|RGD:156089162\|RGD:329352456\|RGD:329374394\|RGD:405682021\|RGD:597698916	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
RBPJ	Human	genetic disease		IAGP	RGD:151754189\|RGD:155954856\|RGD:156228188\|RGD:405682013	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532
RBPJ	Human	maturity-onset diabetes of the young type 1		IAGP	RGD:13704921	8554872	ClinVar Annotator: match by term: Type 2 diabetes mellitus	ClinVar	PMID:29924900
RBPJ	Human	maturity-onset diabetes of the young type 1		IAGP	RGD:13607342\|RGD:13607345\|RGD:13607346\|RGD:13607347\|RGD:13607350\|RGD:13607351\|RGD:13607353\|RGD:13607354\|RGD:13607355\|RGD:13607357\|RGD:13607358\|RGD:13607361\|RGD:13607362\|RGD:13607365\|RGD:13607367\|RGD:13607457\|RGD:21071305\|RGD:21071306\|RGD:21071308\|RGD:21071309\|RGD:21071311\|RGD:21071312	8554872	ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 1 \| ClinVar Annotator: more ...	ClinVar
RBPJ	Human	maturity-onset diabetes of the young type 1		IAGP	RGD:13607368	8554872	ClinVar Annotator: match by term: Type 2 diabetes mellitus	ClinVar	PMID:25741868
RBPJ	Human	schizophrenia		IAGP	RGD:155794695	8554872	ClinVar Annotator: match by term: Schizophrenia	ClinVar
RBPJ	Human	type 2 diabetes mellitus		IAGP	RGD:13704921	8554872	ClinVar Annotator: match by term: Type 2 diabetes mellitus	ClinVar	PMID:29924900
RBPJ	Human	type 2 diabetes mellitus		IAGP	RGD:13607368	8554872	ClinVar Annotator: match by term: Type 2 diabetes mellitus	ClinVar	PMID:25741868
RBPJ	Human	type 2 diabetes mellitus		IAGP	RGD:13607342\|RGD:13607345\|RGD:13607346\|RGD:13607347\|RGD:13607350\|RGD:13607351\|RGD:13607353\|RGD:13607354\|RGD:13607355\|RGD:13607357\|RGD:13607358\|RGD:13607361\|RGD:13607362\|RGD:13607365\|RGD:13607367\|RGD:13607457\|RGD:21071305\|RGD:21071306\|RGD:21071308\|RGD:21071309\|RGD:21071311\|RGD:21071312	8554872	ClinVar Annotator: match by term: Type 2 diabetes mellitus	ClinVar

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
RBPJ	Human	Adams-Oliver syndrome		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD
RBPJ	Human	endometriosis		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:22138541
RBPJ	Human	multiple sclerosis		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:25853421
RBPJ	Human	rheumatoid arthritis		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:20453842\|PMID:23143596

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
RBPJ	Human	aortic valve disease		ISS	RGD:1321530	13592920		MouseDO

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
RBPJ	Human	Adams-Oliver Syndrome 3		IAGP		7240710		OMIM

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
RBPJ	Human	(-)-alpha-phellandrene	increases expression	EXP		6480464	alpha phellandrene results in increased expression of RBPJ mRNA	CTD	PMID:25075043
RBPJ	Human	1,2-dimethylhydrazine	multiple interactions	ISO	RGD:1321530	6480464	[1,2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of RBPJ mRNA	CTD	PMID:22206623
RBPJ	Human	1-chloro-2,4-dinitrobenzene	decreases expression	EXP		6480464	Dinitrochlorobenzene results in decreased expression of RBPJ mRNA	CTD	PMID:17374397
RBPJ	Human	17alpha-ethynylestradiol	multiple interactions	ISO	RGD:1321530	6480464	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of RBPJ mRNA	CTD	PMID:17942748
RBPJ	Human	17beta-estradiol	multiple interactions	ISO	RGD:1321530	6480464	Estradiol inhibits the reaction [[Galactose co-treated with Aluminum Chloride] results in increased expression of RBPJ more ...	CTD	PMID:35537655
RBPJ	Human	2,3',4,4',5-Pentachlorobiphenyl	increases expression	ISO	RGD:1321530	6480464	2,3',4,4',5-pentachlorobiphenyl results in increased expression of RBPJ mRNA	CTD	PMID:31388691
RBPJ	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	RGD:1321530	6480464	Tetrachlorodibenzodioxin results in increased expression of RBPJ mRNA	CTD	PMID:19770486
RBPJ	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	RGD:1593096	6480464	Tetrachlorodibenzodioxin results in decreased expression of RBPJ mRNA	CTD	PMID:33387578
RBPJ	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	RGD:1593096	6480464	Tetrachlorodibenzodioxin affects the expression of RBPJ mRNA	CTD	PMID:34747641
RBPJ	Human	2,3,7,8-tetrachlorodibenzodioxine	multiple interactions	ISO	RGD:1321530	6480464	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of RBPJ mRNA	CTD	PMID:17942748
RBPJ	Human	2,4-diaminotoluene	increases expression	ISO	RGD:1321530	6480464	2,4-diaminotoluene results in increased expression of RBPJ mRNA	CTD	PMID:20713471
RBPJ	Human	3-methylcholanthrene	increases expression	ISO	RGD:1321530	6480464	Methylcholanthrene results in increased expression of RBPJ mRNA	CTD	PMID:20713471
RBPJ	Human	3-methylfuran	increases expression	ISO	RGD:1593096	6480464	3-methylfuran results in increased expression of RBPJ mRNA	CTD	PMID:38160780
RBPJ	Human	4,4'-diaminodiphenylmethane	affects expression	ISO	RGD:1321530	6480464	4,4'-diaminodiphenylmethane affects the expression of RBPJ mRNA	CTD	PMID:18648102
RBPJ	Human	4-(ethoxymethylene)-2-phenyloxazol-5-one	decreases expression	EXP		6480464	Oxazolone results in decreased expression of RBPJ mRNA	CTD	PMID:17374397
RBPJ	Human	5-aza-2'-deoxycytidine	affects expression	EXP		6480464	Decitabine affects the expression of RBPJ mRNA	CTD	PMID:23300844
RBPJ	Human	5-fluorouracil	multiple interactions	EXP		6480464	[Fluorouracil co-treated with irinotecan] results in decreased expression of RBPJ mRNA	CTD	PMID:16391804
RBPJ	Human	6-propyl-2-thiouracil	decreases expression	ISO	RGD:1593096	6480464	Propylthiouracil results in decreased expression of RBPJ mRNA	CTD	PMID:30047161
RBPJ	Human	acetylleucyl-leucyl-norleucinal	increases expression	EXP		6480464	acetylleucyl-leucyl-norleucinal results in increased expression of RBPJ protein	CTD	PMID:22302987
RBPJ	Human	acrylamide	affects expression	ISO	RGD:1593096	6480464	Acrylamide affects the expression of RBPJ mRNA	CTD	PMID:28959563
RBPJ	Human	all-trans-retinoic acid	increases expression	EXP		6480464	Tretinoin results in increased expression of RBPJ mRNA	CTD	PMID:33167477
RBPJ	Human	alpha-D-galactose	multiple interactions	ISO	RGD:1321530	6480464	[Galactose co-treated with Aluminum Chloride] results in increased expression of RBPJ protein; astragalin inhibits the more ...	CTD	PMID:35537655
RBPJ	Human	alpha-phellandrene	increases expression	EXP		6480464	alpha phellandrene results in increased expression of RBPJ mRNA	CTD	PMID:25075043
RBPJ	Human	amitrole	decreases expression	ISO	RGD:1593096	6480464	Amitrole results in decreased expression of RBPJ mRNA	CTD	PMID:30047161
RBPJ	Human	ammonium chloride	increases expression	ISO	RGD:1321530	6480464	Ammonium Chloride results in increased expression of RBPJ protein	CTD	PMID:22302987
RBPJ	Human	ammonium chloride	multiple interactions	EXP		6480464	[PSEN1 protein affects the susceptibility to Ammonium Chloride] affects the reaction [Cycloheximide results in decreased more ...	CTD	PMID:22302987
RBPJ	Human	ammonium chloride	increases expression	EXP		6480464	Ammonium Chloride results in increased expression of RBPJ protein	CTD	PMID:22302987
RBPJ	Human	antirheumatic drug	decreases expression	EXP		6480464	Antirheumatic Agents results in decreased expression of RBPJ mRNA	CTD	PMID:24449571
RBPJ	Human	aristolochic acid A	decreases expression	EXP		6480464	aristolochic acid I results in decreased expression of RBPJ mRNA	CTD	PMID:33212167
RBPJ	Human	arsane	increases methylation	EXP		6480464	Arsenic results in increased methylation of RBPJ promoter	CTD	PMID:21291286
RBPJ	Human	arsane	affects methylation	EXP		6480464	Arsenic affects the methylation of RBPJ gene	CTD	PMID:25304211
RBPJ	Human	arsenic atom	increases methylation	EXP		6480464	Arsenic results in increased methylation of RBPJ promoter	CTD	PMID:21291286
RBPJ	Human	arsenic atom	affects methylation	EXP		6480464	Arsenic affects the methylation of RBPJ gene	CTD	PMID:25304211
RBPJ	Human	arsenite(3-)	increases methylation	EXP		6480464	arsenite results in increased methylation of RBPJ promoter	CTD	PMID:23974009
RBPJ	Human	benzene	increases expression	EXP		6480464	Benzene results in increased expression of RBPJ mRNA	CTD	PMID:19162166
RBPJ	Human	benzo[a]pyrene	increases methylation	EXP		6480464	Benzo(a)pyrene results in increased methylation of RBPJ 3' UTR	CTD	PMID:27901495
RBPJ	Human	benzo[a]pyrene	multiple interactions	ISO	RGD:1593096	6480464	Benzo(a)pyrene promotes the reaction [Dibutyl Phthalate results in increased expression of RBPJ mRNA]; Benzo(a)pyrene promotes more ...	CTD	PMID:35378083
RBPJ	Human	benzo[a]pyrene	increases expression	ISO	RGD:1593096	6480464	Benzo(a)pyrene results in increased expression of RBPJ mRNA; Benzo(a)pyrene results in increased expression of RBPJ more ...	CTD	PMID:35378083
RBPJ	Human	benzo[a]pyrene diol epoxide I	decreases expression	EXP		6480464	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of RBPJ mRNA	CTD	PMID:19150397
RBPJ	Human	bis(2-ethylhexyl) phthalate	decreases expression	ISO	RGD:1321530	6480464	Diethylhexyl Phthalate results in decreased expression of RBPJ mRNA	CTD	PMID:33754040
RBPJ	Human	bisphenol A	increases expression	ISO	RGD:1593096	6480464	bisphenol A results in increased expression of RBPJ mRNA	CTD	PMID:25181051\|PMID:30816183
RBPJ	Human	bisphenol A	affects methylation	ISO	RGD:1321530	6480464	bisphenol A affects the methylation of RBPJ promoter	CTD	PMID:27334623
RBPJ	Human	bisphenol A	increases methylation	ISO	RGD:1593096	6480464	bisphenol A results in increased methylation of RBPJ gene	CTD	PMID:28505145
RBPJ	Human	butanal	decreases expression	EXP		6480464	butyraldehyde results in decreased expression of RBPJ mRNA	CTD	PMID:26079696
RBPJ	Human	cadmium dichloride	increases methylation	ISO	RGD:1593096	6480464	Cadmium Chloride results in increased methylation of RBPJ promoter	CTD	PMID:22457795
RBPJ	Human	cadmium dichloride	decreases expression	EXP		6480464	Cadmium Chloride results in decreased expression of RBPJ mRNA	CTD	PMID:38568856
RBPJ	Human	CGP 52608	multiple interactions	EXP		6480464	CGP 52608 promotes the reaction [RORA protein binds to RBPJ gene]	CTD	PMID:28238834
RBPJ	Human	chloroquine	increases expression	EXP		6480464	Chloroquine results in increased expression of RBPJ protein	CTD	PMID:22302987
RBPJ	Human	cisplatin	affects expression	EXP		6480464	Cisplatin affects the expression of RBPJ mRNA	CTD	PMID:23300844
RBPJ	Human	cobalt dichloride	multiple interactions	EXP		6480464	zinc chloride inhibits the reaction [cobaltous chloride results in increased expression of RBPJ mRNA]	CTD	PMID:22202117
RBPJ	Human	cobalt dichloride	increases expression	EXP		6480464	cobaltous chloride results in increased expression of RBPJ mRNA	CTD	PMID:19376846\|PMID:22202117
RBPJ	Human	cycloheximide	decreases expression	EXP		6480464	Cycloheximide results in decreased expression of RBPJ protein	CTD	PMID:22302987
RBPJ	Human	cycloheximide	multiple interactions	EXP		6480464	[PSEN1 protein affects the susceptibility to Ammonium Chloride] affects the reaction [Cycloheximide results in decreased more ...	CTD	PMID:22302987
RBPJ	Human	DAPT	multiple interactions	ISO	RGD:1593096	6480464	N-(N-(3,5-difluorophenacetyl)alanyl)phenylglycine tert-butyl ester inhibits the reaction [Oxygen deficiency results in increased expression of RBPJ mRNA]	CTD	PMID:24223152
RBPJ	Human	DAPT	multiple interactions	EXP		6480464	N-(N-(3,5-difluorophenacetyl)alanyl)phenylglycine tert-butyl ester inhibits the reaction [Cycloheximide results in decreased expression of RBPJ protein]	CTD	PMID:22302987
RBPJ	Human	DAPT	increases expression	EXP		6480464	N-(N-(3,5-difluorophenacetyl)alanyl)phenylglycine tert-butyl ester results in increased expression of RBPJ protein	CTD	PMID:22302987
RBPJ	Human	decabromodiphenyl ether	decreases expression	ISO	RGD:1593096	6480464	decabromobiphenyl ether results in decreased expression of RBPJ mRNA	CTD	PMID:23640034
RBPJ	Human	Dibutyl phosphate	affects expression	EXP		6480464	di-n-butylphosphoric acid affects the expression of RBPJ mRNA	CTD	PMID:37042841
RBPJ	Human	dibutyl phthalate	multiple interactions	ISO	RGD:1593096	6480464	Benzo(a)pyrene promotes the reaction [Dibutyl Phthalate results in increased expression of RBPJ mRNA]; Benzo(a)pyrene promotes more ...	CTD	PMID:35378083
RBPJ	Human	dibutyl phthalate	increases expression	ISO	RGD:1593096	6480464	Dibutyl Phthalate results in increased expression of RBPJ mRNA; Dibutyl Phthalate results in increased expression more ...	CTD	PMID:35378083
RBPJ	Human	dicrotophos	decreases expression	EXP		6480464	dicrotophos results in decreased expression of RBPJ mRNA	CTD	PMID:28302478
RBPJ	Human	dioxygen	increases expression	ISO	RGD:1321530	6480464	Oxygen deficiency results in increased expression of RBPJ protein	CTD	PMID:24223152
RBPJ	Human	dioxygen	multiple interactions	ISO	RGD:1593096	6480464	N-(N-(3,5-difluorophenacetyl)alanyl)phenylglycine tert-butyl ester inhibits the reaction [Oxygen deficiency results in increased expression of RBPJ mRNA]	CTD	PMID:24223152
RBPJ	Human	dioxygen	increases expression	ISO	RGD:1593096	6480464	Oxygen deficiency results in increased expression of RBPJ mRNA	CTD	PMID:24223152
RBPJ	Human	disodium selenite	increases expression	EXP		6480464	Sodium Selenite results in increased expression of RBPJ mRNA	CTD	PMID:18175754
RBPJ	Human	enzalutamide	affects expression	EXP		6480464	enzalutamide affects the expression of RBPJ mRNA	CTD	PMID:30940724
RBPJ	Human	enzyme inhibitor	multiple interactions	EXP		6480464	[Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation more ...	CTD	PMID:23301498
RBPJ	Human	ethanol	affects expression	ISO	RGD:1321530	6480464	Ethanol affects the expression of RBPJ mRNA	CTD	PMID:30319688
RBPJ	Human	fenvalerate	increases expression	ISO	RGD:1593096	6480464	fenvalerate results in increased expression of RBPJ mRNA	CTD	PMID:30307764
RBPJ	Human	folic acid	multiple interactions	ISO	RGD:1321530	6480464	[1,2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of RBPJ mRNA	CTD	PMID:22206623
RBPJ	Human	folic acid	increases expression	ISO	RGD:1321530	6480464	Folic Acid results in increased expression of RBPJ mRNA	CTD	PMID:25629700
RBPJ	Human	fulvestrant	increases methylation	EXP		6480464	Fulvestrant results in increased methylation of RBPJ gene	CTD	PMID:31601247
RBPJ	Human	galactose	multiple interactions	ISO	RGD:1321530	6480464	[Galactose co-treated with Aluminum Chloride] results in increased expression of RBPJ protein; astragalin inhibits the more ...	CTD	PMID:35537655
RBPJ	Human	glyphosate	decreases expression	EXP		6480464	Glyphosate results in decreased expression of RBPJ mRNA	CTD	PMID:31295307
RBPJ	Human	GSK-J4	increases expression	EXP		6480464	GSK-J4 results in increased expression of RBPJ mRNA	CTD	PMID:29301935
RBPJ	Human	HT-2 toxin	increases expression	EXP		6480464	HT-2 toxin results in increased expression of RBPJ mRNA	CTD	PMID:38734200
RBPJ	Human	hydrogen peroxide	affects expression	EXP		6480464	Hydrogen Peroxide affects the expression of RBPJ mRNA	CTD	PMID:20044591\|PMID:21179406
RBPJ	Human	ionomycin	multiple interactions	EXP		6480464	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased activity of RBPJ protein	CTD	PMID:23134680
RBPJ	Human	irinotecan	decreases expression	EXP		6480464	Irinotecan analog results in decreased expression of RBPJ mRNA	CTD	PMID:18927307
RBPJ	Human	irinotecan	multiple interactions	EXP		6480464	[Fluorouracil co-treated with Irinotecan] results in decreased expression of RBPJ mRNA	CTD	PMID:16391804
RBPJ	Human	kaempferol 3-O-beta-D-glucoside	multiple interactions	ISO	RGD:1321530	6480464	astragalin inhibits the reaction [[Galactose co-treated with Aluminum Chloride] results in increased expression of RBPJ more ...	CTD	PMID:35537655
RBPJ	Human	lactacystin	increases expression	EXP		6480464	lactacystin results in increased expression of RBPJ protein	CTD	PMID:22302987
RBPJ	Human	lead diacetate	increases methylation	ISO	RGD:1593096	6480464	lead acetate results in increased methylation of RBPJ gene	CTD	PMID:29571894
RBPJ	Human	menadione	decreases expression	ISO	RGD:1321530	6480464	Vitamin K 3 results in decreased expression of RBPJ mRNA	CTD	PMID:25270620
RBPJ	Human	methimazole	decreases expression	ISO	RGD:1593096	6480464	Methimazole results in decreased expression of RBPJ mRNA	CTD	PMID:30047161
RBPJ	Human	N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal	increases expression	ISO	RGD:1321530	6480464	benzyloxycarbonylleucyl-leucyl-leucine aldehyde results in increased expression of RBPJ protein	CTD	PMID:22302987
RBPJ	Human	N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal	multiple interactions	EXP		6480464	[PSEN1 protein affects the susceptibility to benzyloxycarbonylleucyl-leucyl-leucine aldehyde] affects the reaction [Cycloheximide results in decreased more ...	CTD	PMID:22302987
RBPJ	Human	N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal	increases expression	EXP		6480464	benzyloxycarbonylleucyl-leucyl-leucine aldehyde results in increased expression of RBPJ protein	CTD	PMID:22302987
RBPJ	Human	nickel sulfate	decreases expression	EXP		6480464	nickel sulfate results in decreased expression of RBPJ mRNA	CTD	PMID:17374397\|PMID:22714537
RBPJ	Human	oxaliplatin	multiple interactions	ISO	RGD:1593096	6480464	[oxaliplatin co-treated with Topotecan] results in decreased expression of RBPJ mRNA	CTD	PMID:25729387
RBPJ	Human	phorbol 13-acetate 12-myristate	multiple interactions	EXP		6480464	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased activity of RBPJ protein	CTD	PMID:23134680
RBPJ	Human	pregnenolone 16alpha-carbonitrile	decreases expression	ISO	RGD:1593096	6480464	Pregnenolone Carbonitrile results in decreased expression of RBPJ mRNA	CTD	PMID:30047161
RBPJ	Human	quercetin	increases expression	ISO	RGD:1593096	6480464	Quercetin results in increased expression of RBPJ mRNA	CTD	PMID:23117658
RBPJ	Human	rimonabant	multiple interactions	ISO	RGD:1321530	6480464	Rimonabant inhibits the reaction [Dietary Fats results in increased expression of RBPJ mRNA]	CTD	PMID:19030233
RBPJ	Human	SB 203580	multiple interactions	EXP		6480464	[PSEN1 protein affects the susceptibility to SB 203580] affects the reaction [Cycloheximide results in decreased more ...	CTD	PMID:22302987
RBPJ	Human	silicon dioxide	increases expression	ISO	RGD:1593096	6480464	Silicon Dioxide results in increased expression of RBPJ mRNA	CTD	PMID:18685790
RBPJ	Human	sodium arsenite	affects expression	EXP		6480464	sodium arsenite affects the expression of RBPJ mRNA	CTD	PMID:29319823
RBPJ	Human	Soman	increases expression	ISO	RGD:1593096	6480464	Soman results in increased expression of RBPJ mRNA	CTD	PMID:19281266
RBPJ	Human	sulfadimethoxine	decreases expression	ISO	RGD:1593096	6480464	Sulfadimethoxine results in decreased expression of RBPJ mRNA	CTD	PMID:30047161
RBPJ	Human	sunitinib	increases expression	EXP		6480464	Sunitinib results in increased expression of RBPJ mRNA	CTD	PMID:31533062
RBPJ	Human	thimerosal	decreases expression	ISO	RGD:1321530	6480464	Thimerosal results in decreased expression of RBPJ mRNA	CTD	PMID:24675092
RBPJ	Human	thioacetamide	increases expression	ISO	RGD:1593096	6480464	Thioacetamide results in increased expression of RBPJ mRNA	CTD	PMID:34492290
RBPJ	Human	titanium dioxide	decreases methylation	ISO	RGD:1321530	6480464	titanium dioxide results in decreased methylation of RBPJ promoter	CTD	PMID:35295148
RBPJ	Human	titanium dioxide	increases methylation	ISO	RGD:1321530	6480464	titanium dioxide results in increased methylation of RBPJ gene	CTD	PMID:35295148
RBPJ	Human	titanium dioxide	increases expression	ISO	RGD:1321530	6480464	titanium dioxide results in increased expression of RBPJ mRNA	CTD	PMID:35295148
RBPJ	Human	topotecan	multiple interactions	ISO	RGD:1593096	6480464	[oxaliplatin co-treated with Topotecan] results in decreased expression of RBPJ mRNA	CTD	PMID:25729387
RBPJ	Human	triclosan	decreases expression	ISO	RGD:1321530	6480464	Triclosan results in decreased expression of RBPJ mRNA; Triclosan results in decreased expression of RBPJ more ...	CTD	PMID:36243240
RBPJ	Human	triphenyl phosphate	affects expression	EXP		6480464	triphenyl phosphate affects the expression of RBPJ mRNA	CTD	PMID:37042841
RBPJ	Human	triptonide	decreases expression	EXP		6480464	triptonide results in decreased expression of RBPJ protein	CTD	PMID:31866380
RBPJ	Human	triticonazole	decreases expression	ISO	RGD:1593096	6480464	triticonazole results in decreased expression of RBPJ mRNA	CTD	PMID:36084822
RBPJ	Human	troglitazone	decreases expression	ISO	RGD:1321530	6480464	troglitazone results in decreased expression of RBPJ mRNA	CTD	PMID:28973697
RBPJ	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of RBPJ mRNA	CTD	PMID:25979313
RBPJ	Human	valproic acid	decreases expression	EXP		6480464	Valproic Acid results in decreased expression of RBPJ mRNA	CTD	PMID:23179753\|PMID:24383497\|PMID:27188386
RBPJ	Human	zinc dichloride	multiple interactions	EXP		6480464	zinc chloride inhibits the reaction [cobaltous chloride results in increased expression of RBPJ mRNA]	CTD	PMID:22202117

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)
RBPJ	Human	angiogenesis	involved_in	ISS	UniProtKB:P31266	150520179		BHF-UCL	GO_REF:0000024
RBPJ	Human	angiogenesis	acts_upstream_of_or_within	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	aortic valve development	involved_in	ISS	UniProtKB:P31266	150520179		ARUK-UCL	GO_REF:0000024
RBPJ	Human	aortic valve development	involved_in	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	arterial endothelial cell fate commitment	involved_in	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	artery morphogenesis	acts_upstream_of_or_within	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	atrioventricular canal development	involved_in	ISS	UniProtKB:P31266	150520179		BHF-UCL	GO_REF:0000024
RBPJ	Human	atrioventricular canal development	involved_in	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	auditory receptor cell fate commitment	acts_upstream_of_or_within	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	B cell differentiation	acts_upstream_of_or_within	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	blood vessel endothelial cell fate specification	involved_in	ISS	UniProtKB:P31266	150520179		BHF-UCL	GO_REF:0000024
RBPJ	Human	blood vessel endothelial cell fate specification	involved_in	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	blood vessel lumenization	involved_in	ISS	UniProtKB:P31266	150520179		BHF-UCL	GO_REF:0000024
RBPJ	Human	blood vessel lumenization	involved_in	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	blood vessel remodeling	involved_in	ISS	UniProtKB:P31266	150520179		ARUK-UCL	GO_REF:0000024
RBPJ	Human	blood vessel remodeling	involved_in	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	cardiac left ventricle morphogenesis	involved_in	ISS	UniProtKB:P31266	150520179		BHF-UCL	GO_REF:0000024
RBPJ	Human	cardiac left ventricle morphogenesis	involved_in	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	cardiac muscle cell fate commitment	acts_upstream_of_or_within	ISO	MGI:3583755	9068941	PMID:22711842	MGI	PMID:22711842
RBPJ	Human	cardiac muscle cell myoblast differentiation	involved_in	ISS	UniProtKB:P31266	150520179		BHF-UCL	GO_REF:0000024
RBPJ	Human	cardiac muscle cell myoblast differentiation	involved_in	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	cell differentiation	acts_upstream_of	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	cell fate commitment	acts_upstream_of_or_within	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	cell population proliferation	acts_upstream_of	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	club cell differentiation	acts_upstream_of_or_within	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	defense response to bacterium	acts_upstream_of_or_within	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	dorsal aorta morphogenesis	involved_in	ISS	UniProtKB:P31266	150520179		BHF-UCL	GO_REF:0000024
RBPJ	Human	dorsal aorta morphogenesis	involved_in	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	endocardium development	involved_in	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	endocardium morphogenesis	involved_in	ISS	UniProtKB:P31266	150520179		BHF-UCL	GO_REF:0000024
RBPJ	Human	endocardium morphogenesis	involved_in	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	epidermal cell fate specification	acts_upstream_of_or_within	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	epithelial cell proliferation	acts_upstream_of	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	epithelial to mesenchymal transition	involved_in	ISS	UniProtKB:P31266	150520179		BHF-UCL	GO_REF:0000024
RBPJ	Human	epithelial to mesenchymal transition	acts_upstream_of_or_within	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	epithelial to mesenchymal transition involved in endocardial cushion formation	involved_in	ISS	UniProtKB:P31266	150520179		BHF-UCL	GO_REF:0000024
RBPJ	Human	epithelial to mesenchymal transition involved in endocardial cushion formation	involved_in	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	hair follicle maturation	acts_upstream_of_or_within	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	heart development	involved_in	IMP		150520179	PMID:21311046	ARUK-UCL	PMID:21311046
RBPJ	Human	heart development	acts_upstream_of_or_within	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	hemopoiesis	acts_upstream_of_or_within	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	humoral immune response	acts_upstream_of_or_within	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	inflammatory response to antigenic stimulus	acts_upstream_of_or_within	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	keratinocyte differentiation	acts_upstream_of_or_within	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	labyrinthine layer blood vessel development	involved_in	ISS	UniProtKB:P31266	150520179		BHF-UCL	GO_REF:0000024
RBPJ	Human	labyrinthine layer blood vessel development	involved_in	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	myeloid dendritic cell differentiation	acts_upstream_of_or_within	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	negative regulation of cell differentiation	acts_upstream_of_or_within	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	negative regulation of cold-induced thermogenesis	involved_in	ISS	UniProtKB:P31266	150520179	PMID:25038826	YuBioLab	PMID:25038826
RBPJ	Human	negative regulation of cold-induced thermogenesis	involved_in	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	negative regulation of DNA-templated transcription	involved_in	IDA		150520179	PMID:10713164	UniProt	PMID:10713164
RBPJ	Human	negative regulation of DNA-templated transcription	acts_upstream_of_or_within	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	negative regulation of neuron projection development		ISO	RGD:1593096	9068941		RGD	PMID:12145413\|REF_RGD_ID:2306424
RBPJ	Human	negative regulation of ossification	involved_in	ISS	UniProtKB:P31266	150520179		BHF-UCL	GO_REF:0000024
RBPJ	Human	negative regulation of ossification	involved_in	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	negative regulation of smooth muscle cell apoptotic process		ISO	RGD:1593096	9068941		RGD	PMID:15247148\|REF_RGD_ID:2306423
RBPJ	Human	negative regulation of smooth muscle cell migration		ISO	RGD:1593096	9068941		RGD	PMID:15247148\|REF_RGD_ID:2306423
RBPJ	Human	negative regulation of stem cell proliferation	acts_upstream_of_or_within	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	negative regulation of transcription by RNA polymerase II	involved_in	ISS	UniProtKB:P31266	150520179		BHF-UCL	GO_REF:0000024
RBPJ	Human	negative regulation of transcription by RNA polymerase II	involved_in	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	negative regulation of transcription by RNA polymerase II	involved_in	IMP		150520179	PMID:18663143	BHF-UCL	PMID:18663143
RBPJ	Human	neuron differentiation	acts_upstream_of_or_within	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	Notch signaling pathway	involved_in	IBA	MGI:96522\|PANTHER:PTN002580211\|UniProtKB:Q06330\|ZFIN:ZDB-GENE-031117-1	150520179		GO_Central	GO_REF:0000033
RBPJ	Human	Notch signaling pathway	acts_upstream_of_or_within	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	Notch signaling pathway	involved_in	IEA	UniProtKB-KW:KW-0914	150520179		UniProt	GO_REF:0000043
RBPJ	Human	Notch signaling pathway	involved_in	IMP		150520179	PMID:18663143, PMID:21311046	BHF-UCL	PMID:18663143\|PMID:21311046
RBPJ	Human	outflow tract morphogenesis	involved_in	ISS	UniProtKB:P31266	150520179		BHF-UCL	GO_REF:0000024
RBPJ	Human	outflow tract morphogenesis	involved_in	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	pituitary gland development	acts_upstream_of_or_within	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	positive regulation of BMP signaling pathway	involved_in	ISS	UniProtKB:P31266	150520179		BHF-UCL	GO_REF:0000024
RBPJ	Human	positive regulation of BMP signaling pathway	involved_in	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	positive regulation of canonical Wnt signaling pathway	acts_upstream_of_or_within	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	positive regulation of cardiac muscle cell proliferation	involved_in	ISS	UniProtKB:P31266	150520179		BHF-UCL	GO_REF:0000024
RBPJ	Human	positive regulation of cardiac muscle cell proliferation	involved_in	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	positive regulation of cell proliferation involved in heart morphogenesis	involved_in	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	positive regulation of cell proliferation involved in heart morphogenesis	involved_in	ISS	UniProtKB:P31266	150520179		BHF-UCL	GO_REF:0000024
RBPJ	Human	positive regulation of DNA-templated transcription		ISO	RGD:1593096	9068941		RGD	PMID:9790494\|REF_RGD_ID:2306427
RBPJ	Human	positive regulation of ephrin receptor signaling pathway	involved_in	ISS	UniProtKB:P31266	150520179		BHF-UCL	GO_REF:0000024
RBPJ	Human	positive regulation of ephrin receptor signaling pathway	involved_in	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	positive regulation of epithelial cell proliferation	acts_upstream_of_or_within	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	positive regulation of ERBB signaling pathway	involved_in	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	positive regulation of ERBB signaling pathway	involved_in	ISS	UniProtKB:P31266	150520179		BHF-UCL	GO_REF:0000024
RBPJ	Human	positive regulation of gene expression	acts_upstream_of_or_within	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	positive regulation of smooth muscle cell proliferation		ISO	RGD:1593096	9068941		RGD	PMID:15247148\|REF_RGD_ID:2306423
RBPJ	Human	positive regulation of transcription by RNA polymerase II	involved_in	IDA		150520179	PMID:23303788	UniProt	PMID:23303788
RBPJ	Human	positive regulation of transcription by RNA polymerase II	involved_in	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	positive regulation of transcription by RNA polymerase II	involved_in	IMP		150520179	PMID:18663143, PMID:20890042	BHF-UCL	PMID:18663143\|PMID:20890042
RBPJ	Human	positive regulation of transcription by RNA polymerase II	involved_in	IEA	GO:0001228	150520179		GOC	GO_REF:0000108
RBPJ	Human	positive regulation of transcription by RNA polymerase II	involved_in	ISS	UniProtKB:P31266	150520179		BHF-UCL	GO_REF:0000024
RBPJ	Human	positive regulation of transcription of Notch receptor target	involved_in	IDA		150520179	PMID:21102556	UniProt	PMID:21102556
RBPJ	Human	positive regulation of transcription of Notch receptor target	acts_upstream_of_or_within	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	pulmonary valve development	involved_in	ISS	UniProtKB:P31266	150520179		ARUK-UCL	GO_REF:0000024
RBPJ	Human	pulmonary valve development	involved_in	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	regulation of cell adhesion involved in heart morphogenesis	involved_in	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	regulation of DNA-templated transcription	involved_in	IEA	ARBA:ARBA00028138	150520179		UniProt	GO_REF:0000117
RBPJ	Human	regulation of DNA-templated transcription	involved_in	IEA	InterPro:IPR008967\|InterPro:IPR015351\|InterPro:IPR037095\|InterPro:IPR038007	150520179		InterPro	GO_REF:0000002
RBPJ	Human	regulation of epithelial cell proliferation	acts_upstream_of_or_within	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	regulation of gene expression	acts_upstream_of_or_within	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	regulation of generation of precursor metabolites and energy	involved_in	IDA		150520179	PMID:23303788	UniProt	PMID:23303788
RBPJ	Human	regulation of timing of cell differentiation	acts_upstream_of_or_within	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	regulation of transcription by RNA polymerase II	involved_in	IEA	InterPro:IPR015350\|InterPro:IPR040159	150520179		InterPro	GO_REF:0000002
RBPJ	Human	regulation of transcription by RNA polymerase II	involved_in	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	regulation of transcription by RNA polymerase II	involved_in	ISS	UniProtKB:P31266	150520179		BHF-UCL	GO_REF:0000024
RBPJ	Human	regulation of transcription by RNA polymerase II	acts_upstream_of_or_within	ISO	MGI:97363	9068941	PMID:15689374	MGI	PMID:15689374
RBPJ	Human	sebaceous gland development	acts_upstream_of_or_within	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	secondary heart field specification	acts_upstream_of_or_within	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	somatic stem cell population maintenance	acts_upstream_of_or_within	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	somitogenesis	acts_upstream_of_or_within	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	stem cell proliferation	acts_upstream_of	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	ventricular septum morphogenesis	involved_in	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	ventricular trabecula myocardium morphogenesis	involved_in	ISS	UniProtKB:P31266	150520179		BHF-UCL	GO_REF:0000024
RBPJ	Human	ventricular trabecula myocardium morphogenesis	involved_in	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107

Cellular Component

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
RBPJ	Human	chromatin	located_in	ISA	tfclass:6.1.4	150520179		NTNU_SB	GO_REF:0000113
RBPJ	Human	cytoplasm	located_in	IEA	UniProtKB-KW:KW-0963	150520179		UniProt	GO_REF:0000043
RBPJ	Human	cytoplasm	located_in	IDA		150520179	PMID:21102556	UniProt	PMID:21102556
RBPJ	Human	cytoplasm	located_in	IEA	UniProtKB-SubCell:SL-0086	150520179		UniProt	GO_REF:0000044
RBPJ	Human	MAML1-RBP-Jkappa- ICN1 complex	part_of	IDA		150520179	PMID:16510869	UniProt	PMID:16510869
RBPJ	Human	MAML1-RBP-Jkappa- ICN1 complex	part_of	IBA	PANTHER:PTN002580211\|UniProtKB:Q06330	150520179		GO_Central	GO_REF:0000033
RBPJ	Human	nucleolus	located_in	IDA		150520179	PMID:9874765	UniProt	PMID:9874765
RBPJ	Human	nucleoplasm	located_in	TAS		150520179		Reactome	Reactome:R-HSA-1912394\|Reactome:R-HSA-212356\|Reactome:R-HSA-2197588\|Reactome:R-HSA-2220957\|Reactome:R-HSA-2220964\|Reactome:R-HSA-2220971\|Reactome:R-HSA-2220982\|Reactome:R-HSA-2976742\|Reactome:R-HSA-350058\|Reactome:R-HSA-4396371\|Reactome:R-HSA-4396379\|Reactome:R-HSA-4396392\|Reactome:R-HSA-4396393\|Reactome:R-HSA-4396401\|Reactome:R-HSA-4396402\|Reactome:R-HSA-8878220\|Reactome:R-HSA-8878237\|Reactome:R-HSA-9017835\|Reactome:R-HSA-9018542\|Reactome:R-HSA-9021406\|Reactome:R-HSA-9021451\|Reactome:R-HSA-9021480\|Reactome:R-NUL-2064264\|Reactome:R-NUL-2064916\|Reactome:R-NUL-2065178\|Reactome:R-NUL-4396363\|Reactome:R-NUL-9013647\|Reactome:R-NUL-9013660\|Reactome:R-NUL-9013699\|Reactome:R-NUL-9604511
RBPJ	Human	nucleoplasm	located_in	IDA		150520179		HPA	GO_REF:0000052
RBPJ	Human	nucleus	located_in	IEA	UniProtKB-KW:KW-0539	150520179		UniProt	GO_REF:0000043
RBPJ	Human	nucleus	located_in	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	nucleus	located_in	IDA		150520179	PMID:21102556, PMID:9874765	UniProt	PMID:21102556\|PMID:9874765
RBPJ	Human	nucleus	located_in	IEA	UniProtKB-SubCell:SL-0191	150520179		UniProt	GO_REF:0000044
RBPJ	Human	nucleus	located_in	IEA	InterPro:IPR015351\|InterPro:IPR037095	150520179		InterPro	GO_REF:0000002
RBPJ	Human	protein-containing complex		ISO	RGD:1593096	9068941		RGD	PMID:11997524\|REF_RGD_ID:2306425
RBPJ	Human	protein-DNA complex		ISO	RGD:1593096	9068941		RGD	PMID:10773077\|REF_RGD_ID:2306426
RBPJ	Human	transcription regulator complex	part_of	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	transcription repressor complex	part_of	IDA		150520179	PMID:16691198	CAFA	PMID:16691198

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)
RBPJ	Human	chromatin binding	enables	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	DNA binding	enables	TAS		150520179	PMID:9874765	UniProt	PMID:9874765
RBPJ	Human	DNA binding	enables	IEA	InterPro:IPR015351\|InterPro:IPR037095\|InterPro:IPR038007	150520179		InterPro	GO_REF:0000002
RBPJ	Human	DNA binding	enables	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	DNA binding	enables	IEA	UniProtKB-KW:KW-0238	150520179		UniProt	GO_REF:0000043
RBPJ	Human	DNA-binding transcription activator activity, RNA polymerase II-specific	enables	IEA	InterPro:IPR040159	150520179		InterPro	GO_REF:0000002
RBPJ	Human	DNA-binding transcription activator activity, RNA polymerase II-specific	enables	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	DNA-binding transcription activator activity, RNA polymerase II-specific	enables	IDA		150520179	PMID:18663143	MGI	PMID:18663143
RBPJ	Human	DNA-binding transcription factor activity	enables	TAS		150520179	PMID:9874765	UniProt	PMID:9874765
RBPJ	Human	DNA-binding transcription factor activity	enables	IEA	InterPro:IPR008967\|InterPro:IPR015351\|InterPro:IPR037095	150520179		InterPro	GO_REF:0000002
RBPJ	Human	DNA-binding transcription factor activity, RNA polymerase II-specific	enables	ISA	tfclass:6.1.4	150520179		NTNU_SB	GO_REF:0000113
RBPJ	Human	DNA-binding transcription factor activity, RNA polymerase II-specific	enables	IBA	FB:FBgn0004837\|MGI:1196616\|MGI:96522\|PANTHER:PTN000071433\|PomBase:SPCC1223.13\|PomBase:SPCC736.08\|UniProtKB:Q06330	150520179		GO_Central	GO_REF:0000033
RBPJ	Human	DNA-binding transcription factor binding	enables	IPI	UniProtKB:Q8N3Y7	150520179	PMID:16691198	CAFA	PMID:16691198
RBPJ	Human	DNA-binding transcription factor binding	enables	IDA		150520179	PMID:23303788	UniProt	PMID:23303788
RBPJ	Human	protein binding	enables	IPI	UniProtKB:P03203\|UniProtKB:P03204\|UniProtKB:P12977\|UniProtKB:P12978	150520179	PMID:8627785	IntAct	PMID:8627785
RBPJ	Human	protein binding	enables	IPI	UniProtKB:Q96JM7	150520179	PMID:29030483	UniProt	PMID:29030483
RBPJ	Human	protein binding	enables	IPI	UniProtKB:P46531\|UniProtKB:Q13573\|UniProtKB:Q9Y618	150520179	PMID:10713164	IntAct	PMID:10713164
RBPJ	Human	protein binding	enables	IPI	UniProtKB:O60341\|UniProtKB:P46531\|UniProtKB:P51532\|UniProtKB:Q9UPP1	150520179	PMID:23022380	IntAct	PMID:23022380
RBPJ	Human	protein binding	enables	IPI	UniProtKB:O60341\|UniProtKB:P46531\|UniProtKB:Q6P3S6\|UniProtKB:Q96K30\|UniProtKB:Q96T58	150520179	PMID:25609649	IntAct	PMID:25609649
RBPJ	Human	protein binding	enables	IPI	UniProtKB:P12977	150520179	PMID:22810586	IntAct	PMID:22810586
RBPJ	Human	protein binding	enables	IPI	UniProtKB:Q13573	150520179	PMID:10713164	UniProt	PMID:10713164
RBPJ	Human	protein binding	enables	IPI	UniProtKB:P0C7T5\|UniProtKB:P46531\|UniProtKB:P54253\|UniProtKB:Q9Y618	150520179	PMID:21475249	IntAct	PMID:21475249
RBPJ	Human	protein binding	enables	IPI	UniProtKB:Q92585	150520179	PMID:16530044	UniProt	PMID:16530044
RBPJ	Human	protein binding	enables	IPI	UniProtKB:P46531	150520179	PMID:16510869, PMID:17284587, PMID:19907488, PMID:22325781, PMID:26496610	IntAct	PMID:16510869\|PMID:17284587\|PMID:19907488\|PMID:22325781\|PMID:26496610
RBPJ	Human	protein binding	enables	IPI	UniProtKB:P0CJ62\|UniProtKB:Q01705\|UniProtKB:Q96K30\|UniProtKB:Q96T58	150520179	PMID:21102556	IntAct	PMID:21102556
RBPJ	Human	protein binding	enables	IPI	UniProtKB:Q96K30	150520179	PMID:21102556	UniProt	PMID:21102556
RBPJ	Human	protein binding	enables	IPI	UniProtKB:P04637	150520179	PMID:26302407	IntAct	PMID:26302407
RBPJ	Human	protein binding	enables	IPI	UniProtKB:Q86X95	150520179	PMID:9874765	UniProt	PMID:9874765
RBPJ	Human	protein binding	enables	IPI	UniProtKB:P46531\|UniProtKB:Q6P3S6\|UniProtKB:Q96T58	150520179	PMID:33961781	IntAct	PMID:33961781
RBPJ	Human	protein-containing complex binding		ISO	RGD:1593096	9068941		RGD	PMID:11997524\|REF_RGD_ID:2306425
RBPJ	Human	RNA polymerase II cis-regulatory region sequence-specific DNA binding	enables	IDA		150520179	PMID:16691198	CAFA	PMID:16691198
RBPJ	Human	RNA polymerase II cis-regulatory region sequence-specific DNA binding	enables	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	RNA polymerase II cis-regulatory region sequence-specific DNA binding	enables	IBA	FB:FBgn0004837\|MGI:96522\|PANTHER:PTN000071433\|PomBase:SPCC1223.13\|PomBase:SPCC736.08\|UniProtKB:Q06330\|WB:WBGene00002245	150520179		GO_Central	GO_REF:0000033
RBPJ	Human	RNA polymerase II cis-regulatory region sequence-specific DNA binding	enables	IEA	InterPro:IPR015350	150520179		InterPro	GO_REF:0000002
RBPJ	Human	RNA polymerase II-specific DNA-binding transcription factor binding	enables	IPI	UniProtKB:Q96T58	150520179	PMID:16287852	BHF-UCL	PMID:16287852
RBPJ	Human	sequence-specific DNA binding	enables	IEA	UniProtKB:P31266\|ensembl:ENSMUSP00000109496	150520179		Ensembl	GO_REF:0000107
RBPJ	Human	sequence-specific DNA binding	enables	IDA		150520179	PMID:23303788	UniProt	PMID:23303788

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)
RBPJ	Human	Notch signaling pathway		TAS		2302204		RGD
RBPJ	Human	Notch signaling pathway		ISO	RGD:1593096	2306423		RGD

Imported Annotations - KEGG (archival)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
RBPJ	Human	Notch signaling pathway		IEA		6907045		KEGG	hsa:04330

Imported Annotations - PID (archival)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
RBPJ	Human	Notch signaling pathway		EXP		6484113		PID	PID:200015

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
RBPJ	Human	2-3 toe syndactyly		IAGP		8699517		HPO	MIM:614814\|PMID:22883147
RBPJ	Human	Abnormal metacarpal morphology		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Abnormal pulmonary valve morphology		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Abnormality of the lower limb		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Abnormality of the upper limb		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Absent fingernail		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Absent hand		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Absent toe		IAGP		8699517		HPO	MIM:614814\|PMID:22883147\|ORPHA:974
RBPJ	Human	Alopecia		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Aplasia cutis congenita		IAGP		8699517		HPO	MIM:614814\|PMID:22883147\|ORPHA:974
RBPJ	Human	Aplasia/Hypoplasia of the skin		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Aplastic/hypoplastic toenail		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Arteriovenous malformation		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Ascites		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Autosomal dominant inheritance		IAGP		8699517		HPO	MIM:614814\|PMID:22883147
RBPJ	Human	Brachydactyly		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Calvarial skull defect		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Cataract		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Cirrhosis		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Congenital hepatic fibrosis		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Congenital onset		IAGP		8699517		HPO	MIM:614814\|PMID:22883147
RBPJ	Human	Cutis marmorata		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Delayed gross motor development		IAGP		8699517		HPO	MIM:614814\|PMID:22883147
RBPJ	Human	EEG abnormality		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Encephalocele		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Esophageal varix		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Failure to thrive		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Finger syndactyly		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Gastrointestinal hemorrhage		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Hemiparesis		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Hydrocephalus		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Hypertonia		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Hypoplastic fifth fingernail		IAGP		8699517		HPO	MIM:614814\|PMID:22883147
RBPJ	Human	Hypoplastic fingernail		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Intellectual disability		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Intellectual disability, mild		IAGP		8699517		HPO	MIM:614814\|PMID:22883147
RBPJ	Human	Leukopenia		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Microcephaly		IAGP		8699517		HPO	MIM:614814\|PMID:22883147
RBPJ	Human	Microphthalmia		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Periventricular leukomalacia		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Porencephalic cyst		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Portal hypertension		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Premature birth		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Pulmonary arterial hypertension		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Pulmonary artery atresia		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Seizure		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Short 5th toe		IAGP		8699517		HPO	MIM:614814\|PMID:22883147
RBPJ	Human	Short distal phalanx of finger		IAGP		8699517		HPO	MIM:614814\|PMID:22883147\|ORPHA:974
RBPJ	Human	Short metatarsal		IAGP		8699517		HPO	MIM:614814\|PMID:22883147
RBPJ	Human	Short palm		IAGP		8699517		HPO	MIM:614814\|PMID:22883147
RBPJ	Human	Short palpebral fissure		IAGP		8699517		HPO	MIM:614814\|PMID:22883147
RBPJ	Human	Sparse hair		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Split hand		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Strabismus		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Talipes		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Tetralogy of Fallot		IAGP		8699517		HPO	ORPHA:974
RBPJ	Human	Thrombocytopenia		IAGP		8699517		HPO	ORPHA:974

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
RBPJ	Human	Schizophrenia		IAGP	RGD:155794695	8554872	ClinVar Annotator: match by term: Schizophrenia	ClinVar
RBPJ	Human	Type II diabetes mellitus		IAGP	RGD:13607368	8554872	ClinVar Annotator: match by term: Type 2 diabetes mellitus	ClinVar	PMID:25741868
RBPJ	Human	Type II diabetes mellitus		IAGP	RGD:13607354	8554872	ClinVar Annotator: match by term: Type 2 diabetes mellitus	ClinVar
RBPJ	Human	Type II diabetes mellitus		IAGP	RGD:13607345	8554872	ClinVar Annotator: match by term: Type 2 diabetes mellitus	ClinVar
RBPJ	Human	Type II diabetes mellitus		IAGP	RGD:13607457	8554872	ClinVar Annotator: match by term: Type 2 diabetes mellitus	ClinVar
RBPJ	Human	Type II diabetes mellitus		IAGP	RGD:13607358	8554872	ClinVar Annotator: match by term: Type 2 diabetes mellitus	ClinVar
RBPJ	Human	Type II diabetes mellitus		IAGP	RGD:13607350	8554872	ClinVar Annotator: match by term: Type 2 diabetes mellitus	ClinVar
RBPJ	Human	Type II diabetes mellitus		IAGP	RGD:13607361	8554872	ClinVar Annotator: match by term: Type 2 diabetes mellitus	ClinVar
RBPJ	Human	Type II diabetes mellitus		IAGP	RGD:13607342	8554872	ClinVar Annotator: match by term: Type 2 diabetes mellitus	ClinVar
RBPJ	Human	Type II diabetes mellitus		IAGP	RGD:13607357	8554872	ClinVar Annotator: match by term: Type 2 diabetes mellitus	ClinVar
RBPJ	Human	Type II diabetes mellitus		IAGP	RGD:21071305	8554872	ClinVar Annotator: match by term: Type 2 diabetes mellitus	ClinVar
RBPJ	Human	Type II diabetes mellitus		IAGP	RGD:13607365	8554872	ClinVar Annotator: match by term: Type 2 diabetes mellitus	ClinVar
RBPJ	Human	Type II diabetes mellitus		IAGP	RGD:13607353	8554872	ClinVar Annotator: match by term: Type 2 diabetes mellitus	ClinVar
RBPJ	Human	Type II diabetes mellitus		IAGP	RGD:13607347	8554872	ClinVar Annotator: match by term: Type 2 diabetes mellitus	ClinVar
RBPJ	Human	Type II diabetes mellitus		IAGP	RGD:13607351	8554872	ClinVar Annotator: match by term: Type 2 diabetes mellitus	ClinVar
RBPJ	Human	Type II diabetes mellitus		IAGP	RGD:13607367	8554872	ClinVar Annotator: match by term: Type 2 diabetes mellitus	ClinVar
RBPJ	Human	Type II diabetes mellitus		IAGP	RGD:13607355	8554872	ClinVar Annotator: match by term: Type 2 diabetes mellitus	ClinVar
RBPJ	Human	Type II diabetes mellitus		IAGP	RGD:21071306	8554872	ClinVar Annotator: match by term: Type 2 diabetes mellitus	ClinVar
RBPJ	Human	Type II diabetes mellitus		IAGP	RGD:21071312	8554872	ClinVar Annotator: match by term: Type 2 diabetes mellitus	ClinVar
RBPJ	Human	Type II diabetes mellitus		IAGP	RGD:21071311	8554872	ClinVar Annotator: match by term: Type 2 diabetes mellitus	ClinVar
RBPJ	Human	Type II diabetes mellitus		IAGP	RGD:21071309	8554872	ClinVar Annotator: match by term: Type 2 diabetes mellitus	ClinVar
RBPJ	Human	Type II diabetes mellitus		IAGP	RGD:13607346	8554872	ClinVar Annotator: match by term: Type 2 diabetes mellitus	ClinVar
RBPJ	Human	Type II diabetes mellitus		IAGP	RGD:21071308	8554872	ClinVar Annotator: match by term: Type 2 diabetes mellitus	ClinVar
RBPJ	Human	Type II diabetes mellitus		IAGP	RGD:13704921	8554872	ClinVar Annotator: match by term: Type 2 diabetes mellitus	ClinVar	PMID:29924900
RBPJ	Human	Type II diabetes mellitus		IAGP	RGD:13607362	8554872	ClinVar Annotator: match by term: Type 2 diabetes mellitus	ClinVar

#	Reference Title	Reference Citation
1.	Cell and molecular biology of Notch.	Fiuza UM and Arias AM, J Endocrinol. 2007 Sep;194(3):459-74.
2.	Enhanced expression and autoimmunity of recombination signal binding protein-jkappa in human dilated cardiomyopathy.	Nickenig G, etal., Biochem Biophys Res Commun. 1999 Dec 20;266(2):432-6.
3.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
4.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
5.	PID Annotation Import Pipeline	Pipeline to import Pathway Interaction Database annotations from NCI into RGD
6.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
8.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
9.	Notch 1 and 3 receptor signaling modulates vascular smooth muscle cell growth, apoptosis, and migration via a CBF-1/RBP-Jk dependent pathway.	Sweeney C, etal., FASEB J. 2004 Sep;18(12):1421-3. Epub 2004 Jul 9.

PMID:2556644	PMID:7625272	PMID:7651391	PMID:8406481	PMID:8627785	PMID:8676443	PMID:8749394	PMID:8889548	PMID:8895530	PMID:9032325	PMID:9111040	PMID:9290259
PMID:9694793	PMID:9874765	PMID:10508479	PMID:10637481	PMID:10644367	PMID:10708423	PMID:10713164	PMID:10747963	PMID:11390662	PMID:11404076	PMID:11509665	PMID:11511084
PMID:11518718	PMID:11748221	PMID:11997524	PMID:12370315	PMID:12374742	PMID:12477932	PMID:12644465	PMID:12832621	PMID:14570916	PMID:14611647	PMID:14645224	PMID:14701863
PMID:14702039	PMID:14999091	PMID:15187023	PMID:15194757	PMID:15489334	PMID:15546612	PMID:15710417	PMID:15767449	PMID:15987768	PMID:16287852	PMID:16354684	PMID:16378632
PMID:16399505	PMID:16439682	PMID:16510869	PMID:16530044	PMID:16682003	PMID:16691198	PMID:16763620	PMID:16873269	PMID:17055026	PMID:17070841	PMID:17245125	PMID:17284587
PMID:17434929	PMID:17513037	PMID:17513780	PMID:17526737	PMID:17573339	PMID:17636029	PMID:18155729	PMID:18239137	PMID:18332109	PMID:18663143	PMID:19147558	PMID:19237563
PMID:19240061	PMID:19247952	PMID:19274049	PMID:19321451	PMID:19322201	PMID:19487031	PMID:19503073	PMID:19776126	PMID:19800882	PMID:19838210	PMID:19866488	PMID:19907488
PMID:19939918	PMID:19969318	PMID:20006367	PMID:20028974	PMID:20118921	PMID:20231316	PMID:20346360	PMID:20379614	PMID:20453842	PMID:20511547	PMID:20890042	PMID:21102556
PMID:21150319	PMID:21311046	PMID:21440926	PMID:21475249	PMID:21507979	PMID:21518914	PMID:21558417	PMID:21737748	PMID:21820430	PMID:21832049	PMID:21873635	PMID:21880753
PMID:21900206	PMID:21988832	PMID:21991380	PMID:22100894	PMID:22143792	PMID:22253595	PMID:22279058	PMID:22279105	PMID:22302987	PMID:22325781	PMID:22366521	PMID:22379092
PMID:22792167	PMID:22810586	PMID:22883147	PMID:22888005	PMID:22915591	PMID:23022380	PMID:23103515	PMID:23303788	PMID:23365452	PMID:23696732	PMID:23775085	PMID:24068939
PMID:24449572	PMID:24549417	PMID:24684754	PMID:24696491	PMID:24952875	PMID:25014791	PMID:25038826	PMID:25277244	PMID:25281560	PMID:25324571	PMID:25355311	PMID:25356737
PMID:25445601	PMID:25512468	PMID:25589461	PMID:25609649	PMID:26033182	PMID:26108681	PMID:26186194	PMID:26202358	PMID:26302407	PMID:26496610	PMID:26496776	PMID:26522984
PMID:26604133	PMID:26655998	PMID:26673895	PMID:26719268	PMID:26735629	PMID:26760575	PMID:27066863	PMID:27077170	PMID:27163456	PMID:27322055	PMID:27466498	PMID:27489358
PMID:27634302	PMID:27794430	PMID:27926858	PMID:28174252	PMID:28240601	PMID:28487372	PMID:28514442	PMID:28571041	PMID:28805822	PMID:28877478	PMID:29030483	PMID:29242273
PMID:29509190	PMID:29757189	PMID:29844126	PMID:29931229	PMID:29971915	PMID:30013183	PMID:30030832	PMID:30061220	PMID:30075508	PMID:30157580	PMID:30213224	PMID:30231994
PMID:30254149	PMID:30419336	PMID:30642633	PMID:30804502	PMID:30856484	PMID:30948266	PMID:30967258	PMID:30975888	PMID:31467287	PMID:31871319	PMID:32130980	PMID:32271392
PMID:32460013	PMID:32567455	PMID:32961937	PMID:33010171	PMID:33034023	PMID:33311552	PMID:33387451	PMID:33389283	PMID:33640491	PMID:33961781	PMID:34079125	PMID:34597346
PMID:34655278	PMID:35016035	PMID:35140242	PMID:35182466	PMID:35509820	PMID:35563538	PMID:35701858	PMID:35821235	PMID:35831314	PMID:35844785	PMID:35944360	PMID:36089195
PMID:36129980	PMID:36208372	PMID:36215168	PMID:36477367	PMID:37051908	PMID:37756541	PMID:37827155	PMID:38580884	PMID:39002703	PMID:39617063

RBPJ
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	4	26,105,449 - 26,435,131 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	4	26,163,455 - 26,435,131 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	4	26,165,080 - 26,436,753 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	4	25,930,430 - 26,042,376 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	4	26,771,681 - 26,884,040 (+)	NCBI		Celera
Cytogenetic Map	4	p15.2	NCBI
HuRef	4	25,659,979 - 25,775,063 (+)	NCBI		HuRef
CHM1_1	4	26,322,549 - 26,437,875 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	4	26,087,631 - 26,420,111 (+)	NCBI		T2T-CHM13v2.0

Rbpj
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	5	53,713,121 - 53,814,787 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	5	53,623,494 - 53,814,704 (+)	Ensembl		GRCm39 Ensembl
GRCm38	5	53,555,779 - 53,657,445 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	5	53,466,152 - 53,657,362 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	5	53,947,018 - 54,048,684 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	5	53,878,593 - 53,944,281 (+)	NCBI		MGSCv36	mm8
Celera	5	50,938,216 - 51,041,035 (+)	NCBI		Celera
Cytogenetic Map	5	C1	NCBI
cM Map	5	29.37	NCBI

Rbpj
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	14	61,551,366 - 61,736,220 (-)	NCBI		GRCr8
mRatBN7.2	14	57,338,493 - 57,523,330 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	14	57,338,507 - 57,523,353 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	14	61,746,363 - 61,809,045 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	14	63,048,700 - 63,111,484 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	14	59,445,481 - 59,508,257 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	14	59,657,738 - 59,865,427 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	14	59,658,935 - 59,735,450 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	14	59,785,053 - 59,859,229 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Celera	14	56,447,546 - 56,510,235 (-)	NCBI		Celera
Cytogenetic Map	14	q11	NCBI

Rbpj
(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_004955443	18,783,061 - 18,910,228 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955443	18,783,061 - 19,029,441 (-)	NCBI	ChiLan1.0	ChiLan1.0

RBPJ
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	3	26,573,771 - 26,689,708 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	4	26,766,523 - 26,881,531 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	4	20,719,548 - 20,835,439 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	4	25,996,223 - 26,107,683 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	4	25,995,263 - 26,107,683 (+)	Ensembl	panpan1.1		panPan2

RBPJ
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	3	84,060,417 - 84,286,008 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	3	84,064,440 - 84,286,360 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	3	86,572,469 - 86,797,897 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	3	85,030,006 - 85,255,529 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	3	85,034,041 - 85,255,924 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	3	84,151,949 - 84,377,265 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	3	84,271,690 - 84,496,976 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	3	84,656,440 - 84,881,337 (-)	NCBI		UU_Cfam_GSD_1.0

Rbpj
(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_024405285	49,648,938 - 49,859,262 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936477	3,349,627 - 3,461,797 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936477	3,354,336 - 3,445,248 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

RBPJ
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	8	19,922,779 - 20,166,754 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	8	19,933,035 - 20,166,746 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	8	20,306,820 - 20,540,623 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

RBPJ
(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	27	23,911,084 - 24,023,856 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666047	70,424,032 - 70,537,613 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Rbpj
(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_004624755	6,176,497 - 6,298,225 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624755	6,176,497 - 6,298,034 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in RBPJ
187 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_015874.6(RBPJ):c.149A>G (p.Glu50Gly)	single nucleotide variant	Adams-Oliver syndrome 3 [RCV000030707]	Chr4:26406264 [GRCh38] Chr4:26407886 [GRCh37] Chr4:4p15.2	pathogenic
NM_015874.6(RBPJ):c.466A>G (p.Lys156Glu)	single nucleotide variant	Adams-Oliver syndrome 3 [RCV000030708]	Chr4:26420695 [GRCh38] Chr4:26422317 [GRCh37] Chr4:4p15.2	pathogenic
NM_015874.6(RBPJ):c.21-26407G>A	single nucleotide variant	Type 2 diabetes mellitus [RCV000626365]	Chr4:26359946 [GRCh38] Chr4:26361568 [GRCh37] Chr4:4p15.2	benign
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	copy number loss	See cases [RCV000051642]	Chr4:72555..28066309 [GRCh38] Chr4:72447..28067931 [GRCh37] Chr4:62447..27677029 [NCBI36] Chr4:4p16.3-15.1	pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]\|See cases [RCV000051752]	Chr4:51519..26519788 [GRCh38] Chr4:51413..26521410 [GRCh37] Chr4:41413..26130508 [NCBI36] Chr4:4p16.3-15.2	pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	copy number gain	See cases [RCV000051753]	Chr4:72555..33130620 [GRCh38] Chr4:72447..33132242 [GRCh37] Chr4:62447..32808637 [NCBI36] Chr4:4p16.3-15.1	pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	copy number gain	See cases [RCV000051757]	Chr4:85149..38700366 [GRCh38] Chr4:85040..38701987 [GRCh37] Chr4:75040..38378382 [NCBI36] Chr4:4p16.3-14	pathogenic
GRCh38/hg38 4p15.31-15.2(chr4:21056309-26732162)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053263]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053263]\|See cases [RCV000053263]	Chr4:21056309..26732162 [GRCh38] Chr4:21057932..26733784 [GRCh37] Chr4:20667030..26342882 [NCBI36] Chr4:4p15.31-15.2	pathogenic
NM_015874.6(RBPJ):c.154A>G (p.Arg52Gly)	single nucleotide variant	Adams-Oliver syndrome 3 [RCV000662238]\|Type 2 diabetes mellitus [RCV000987431]	Chr4:26406269 [GRCh38] Chr4:26407891 [GRCh37] Chr4:4p15.2	likely pathogenic
NM_015874.6(RBPJ):c.157T>G (p.Phe53Val)	single nucleotide variant	Adams-Oliver syndrome 3 [RCV000662239]	Chr4:26415476 [GRCh38] Chr4:26417098 [GRCh37] Chr4:4p15.2	likely pathogenic
NM_015874.6(RBPJ):c.957C>A (p.Ser319Arg)	single nucleotide variant	Adams-Oliver syndrome 3 [RCV000662240]	Chr4:26429966 [GRCh38] Chr4:26431588 [GRCh37] Chr4:4p15.2	likely pathogenic
NC_000004.12:g.26210411T>C	single nucleotide variant	Lung cancer [RCV000094596]	Chr4:26210411 [GRCh38] Chr4:26212033 [GRCh37] Chr4:4p15.2	uncertain significance
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	copy number gain	See cases [RCV000133677]	Chr4:72555..39477144 [GRCh38] Chr4:72447..39478764 [GRCh37] Chr4:62447..39155159 [NCBI36] Chr4:4p16.3-14	pathogenic
GRCh38/hg38 4p15.2(chr4:23862000-27685546)x1	copy number loss	See cases [RCV000135404]	Chr4:23862000..27685546 [GRCh38] Chr4:23863623..27687168 [GRCh37] Chr4:23472721..27296266 [NCBI36] Chr4:4p15.2	pathogenic
GRCh38/hg38 4p15.32-15.1(chr4:16925022-32113076)x1	copy number loss	See cases [RCV000135806]	Chr4:16925022..32113076 [GRCh38] Chr4:16926645..32114698 [GRCh37] Chr4:16535743..31758596 [NCBI36] Chr4:4p15.32-15.1	pathogenic\|likely pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	copy number gain	See cases [RCV000137261]	Chr4:36424..47491595 [GRCh38] Chr4:36424..47493612 [GRCh37] Chr4:26424..47188369 [NCBI36] Chr4:4p16.3-12	pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1	copy number loss	See cases [RCV000240003]	Chr4:71552..29006745 [GRCh37] Chr4:4p16.3-15.1	pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	copy number gain	not specified [RCV003986479]	Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	copy number gain	See cases [RCV000240562]	Chr4:12440..49064044 [GRCh37] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p15.2-15.1(chr4:23458442-29252060)x1	copy number loss	See cases [RCV000240221]	Chr4:23458442..29252060 [GRCh37] Chr4:4p15.2-15.1	pathogenic
NM_015874.6(RBPJ):c.59+2331A>C	single nucleotide variant	Type 2 diabetes mellitus [RCV000626357]	Chr4:26388722 [GRCh38] Chr4:26390344 [GRCh37] Chr4:4p15.2	benign
NM_015874.6(RBPJ):c.60-5130C>T	single nucleotide variant	Type 2 diabetes mellitus [RCV000626369]	Chr4:26401045 [GRCh38] Chr4:26402667 [GRCh37] Chr4:4p15.2	benign
NC_000004.12:g.26320917G>A	single nucleotide variant	Type 2 diabetes mellitus [RCV000626373]\|not provided [RCV004716515]	Chr4:26320917 [GRCh38] Chr4:26322539 [GRCh37] Chr4:4p15.2	benign
NC_000004.12:g.26318442G>A	single nucleotide variant	Type 2 diabetes mellitus [RCV000626358]	Chr4:26318442 [GRCh38] Chr4:26320064 [GRCh37] Chr4:4p15.2	benign
NM_015874.6(RBPJ):c.321+406G>A	single nucleotide variant	Type 2 diabetes mellitus [RCV000626368]	Chr4:26416046 [GRCh38] Chr4:26417668 [GRCh37] Chr4:4p15.2	benign
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3	copy number gain	See cases [RCV000446451]	Chr4:68345..49093788 [GRCh37] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	copy number gain	See cases [RCV000446653]	Chr4:12440..190904441 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p15.2-15.1(chr4:23790131-32302608)x1	copy number loss	See cases [RCV000445756]	Chr4:23790131..32302608 [GRCh37] Chr4:4p15.2-15.1	likely pathogenic
NM_015874.6(RBPJ):c.635-9_638del	deletion	not provided [RCV000486407]	Chr4:26424622..26424634 [GRCh38] Chr4:26426244..26426256 [GRCh37] Chr4:4p15.2	likely pathogenic\|uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	copy number gain	See cases [RCV000510453]	Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	copy number gain	See cases [RCV000511193]	Chr4:68345..66440622 [GRCh37] Chr4:4p16.3-q13.1	pathogenic
NM_015874.6(RBPJ):c.20+10722T>G	single nucleotide variant	Type 2 diabetes mellitus [RCV000626366]	Chr4:26331770 [GRCh38] Chr4:26333392 [GRCh37] Chr4:4p15.2	benign
NM_015874.6(RBPJ):c.21-2640G>A	single nucleotide variant	Type 2 diabetes mellitus [RCV000626364]	Chr4:26383713 [GRCh38] Chr4:26385335 [GRCh37] Chr4:4p15.2	benign
NM_015874.6(RBPJ):c.156-2327G>C	single nucleotide variant	Type 2 diabetes mellitus [RCV000626361]	Chr4:26413148 [GRCh38] Chr4:26414770 [GRCh37] Chr4:4p15.2	benign
NC_000004.12:g.26444384G>A	single nucleotide variant	Type 2 diabetes mellitus [RCV000626362]	Chr4:26444384 [GRCh38] Chr4:26446006 [GRCh37] Chr4:4p15.2	benign
NC_000004.12:g.26453607G>C	single nucleotide variant	Type 2 diabetes mellitus [RCV000626363]	Chr4:26453607 [GRCh38] Chr4:26455229 [GRCh37] Chr4:4p15.2	benign
NC_000004.12:g.26222167C>T	single nucleotide variant	Type 2 diabetes mellitus [RCV000626359]	Chr4:26222167 [GRCh38] Chr4:26223789 [GRCh37] Chr4:4p15.2	benign
NM_015874.6(RBPJ):c.20+13573C>T	single nucleotide variant	Type 2 diabetes mellitus [RCV000626360]	Chr4:26334621 [GRCh38] Chr4:26336243 [GRCh37] Chr4:4p15.2	benign
NM_015874.6(RBPJ):c.21-20856T>C	single nucleotide variant	Type 2 diabetes mellitus [RCV000626367]	Chr4:26365497 [GRCh38] Chr4:26367119 [GRCh37] Chr4:4p15.2	benign
NM_015874.6(RBPJ):c.60-8189dup	duplication	Type 2 diabetes mellitus [RCV000626370]	Chr4:26397981..26397982 [GRCh38] Chr4:26399603..26399604 [GRCh37] Chr4:4p15.2	benign
NC_000004.12:g.26450075G>A	single nucleotide variant	Type 2 diabetes mellitus [RCV000626371]	Chr4:26450075 [GRCh38] Chr4:26451697 [GRCh37] Chr4:4p15.2	benign
NM_015874.6(RBPJ):c.20+29693T>G	single nucleotide variant	Type 2 diabetes mellitus [RCV000626372]	Chr4:26350741 [GRCh38] Chr4:26352363 [GRCh37] Chr4:4p15.2	benign
NM_015874.6(RBPJ):c.130C>G (p.Gln44Glu)	single nucleotide variant	Inborn genetic diseases [RCV000623402]	Chr4:26406245 [GRCh38] Chr4:26407867 [GRCh37] Chr4:4p15.2	likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	copy number gain	See cases [RCV000512241]	Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	copy number gain	not provided [RCV000682363]	Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1	copy number loss	not provided [RCV000682373]	Chr4:4165334..33324781 [GRCh37] Chr4:4p16.3-15.1	pathogenic
GRCh37/hg19 4p15.2(chr4:26431386-26489057)x3	copy number gain	not provided [RCV000743456]	Chr4:26431386..26489057 [GRCh37] Chr4:4p15.2	benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3	copy number gain	not provided [RCV000743155]	Chr4:49450..190915650 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3	copy number gain	not provided [RCV000743156]	Chr4:49450..190963766 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3	copy number gain	not provided [RCV000743147]	Chr4:11525..191028879 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3	copy number gain	not provided [RCV000743201]	Chr4:1356924..49659859 [GRCh37] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3	copy number gain	not provided [RCV000743154]	Chr4:49450..46339070 [GRCh37] Chr4:4p16.3-12	pathogenic
NM_015874.6(RBPJ):c.258G>T (p.Pro86=)	single nucleotide variant	not provided [RCV000894477]	Chr4:26415577 [GRCh38] Chr4:26417199 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.*193A>G	single nucleotide variant	not provided [RCV001645704]	Chr4:26431200 [GRCh38] Chr4:26432822 [GRCh37] Chr4:4p15.2	benign
NM_015874.6(RBPJ):c.321+135del	deletion	not provided [RCV001665744]	Chr4:26415774 [GRCh38] Chr4:26417396 [GRCh37] Chr4:4p15.2	benign
NM_015874.6(RBPJ):c.1411G>A (p.Ala471Thr)	single nucleotide variant	not provided [RCV000906688]	Chr4:26430954 [GRCh38] Chr4:26432576 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.1332A>G (p.Ala444=)	single nucleotide variant	RBPJ-related disorder [RCV003936052]\|not provided [RCV000967744]	Chr4:26430875 [GRCh38] Chr4:26432497 [GRCh37] Chr4:4p15.2	benign
NM_015874.6(RBPJ):c.1038C>T (p.Ser346=)	single nucleotide variant	not provided [RCV000901887]	Chr4:26430047 [GRCh38] Chr4:26431669 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.282T>C (p.Asn94=)	single nucleotide variant	not provided [RCV000923465]	Chr4:26415601 [GRCh38] Chr4:26417223 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.1284C>T (p.Thr428=)	single nucleotide variant	not provided [RCV000972106]	Chr4:26430827 [GRCh38] Chr4:26432449 [GRCh37] Chr4:4p15.2	benign\|likely benign
NM_015874.6(RBPJ):c.1335A>G (p.Gly445=)	single nucleotide variant	not provided [RCV000915805]	Chr4:26430878 [GRCh38] Chr4:26432500 [GRCh37] Chr4:4p15.2	likely benign
GRCh37/hg19 4p15.33-15.1(chr4:12778849-27760141)	copy number loss	not provided [RCV000767707]	Chr4:12778849..27760141 [GRCh37] Chr4:4p15.33-15.1	pathogenic
NM_015874.6(RBPJ):c.1168del (p.Cys390fs)	deletion	Type 2 diabetes mellitus [RCV000987436]	Chr4:26430711 [GRCh38] Chr4:26432333 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.1183A>G (p.Ile395Val)	single nucleotide variant	Type 2 diabetes mellitus [RCV000987437]	Chr4:26430726 [GRCh38] Chr4:26432348 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.368G>A (p.Arg123Gln)	single nucleotide variant	Type 2 diabetes mellitus [RCV000987432]	Chr4:26420597 [GRCh38] Chr4:26422219 [GRCh37] Chr4:4p15.2	uncertain significance
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3	copy number gain	not provided [RCV001005510]	Chr4:68345..27423424 [GRCh37] Chr4:4p16.3-15.2	pathogenic
NM_015874.6(RBPJ):c.745T>C (p.Leu249=)	single nucleotide variant	not provided [RCV000979637]	Chr4:26424741 [GRCh38] Chr4:26426363 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.1446A>G (p.Thr482=)	single nucleotide variant	not provided [RCV000896391]	Chr4:26430989 [GRCh38] Chr4:26432611 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.673C>T (p.Arg225Ter)	single nucleotide variant	not provided [RCV000998232]	Chr4:26424669 [GRCh38] Chr4:26426291 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.1064T>A (p.Val355Glu)	single nucleotide variant	Type 2 diabetes mellitus [RCV000987434]	Chr4:26430438 [GRCh38] Chr4:26432060 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.634+15G>T	single nucleotide variant	not provided [RCV001544941]	Chr4:26424494 [GRCh38] Chr4:26426116 [GRCh37] Chr4:4p15.2	benign\|likely benign
NM_015874.6(RBPJ):c.394A>G (p.Met132Val)	single nucleotide variant	Type 2 diabetes mellitus [RCV000987433]	Chr4:26420623 [GRCh38] Chr4:26422245 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.155+203A>G	single nucleotide variant	not provided [RCV001574565]	Chr4:26406473 [GRCh38] Chr4:26408095 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.538C>T (p.Leu180=)	single nucleotide variant	not provided [RCV003106824]	Chr4:26424383 [GRCh38] Chr4:26426005 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.1044+155del	deletion	not provided [RCV001651403]	Chr4:26430200 [GRCh38] Chr4:26431822 [GRCh37] Chr4:4p15.2	benign
NM_015874.6(RBPJ):c.1045-97T>A	single nucleotide variant	not provided [RCV001560625]	Chr4:26430322 [GRCh38] Chr4:26431944 [GRCh37] Chr4:4p15.2	likely benign
NM_005349.4(RBPJ):c.-57-48A>G	single nucleotide variant	not provided [RCV001560684]	Chr4:26320652 [GRCh38] Chr4:26322274 [GRCh37] Chr4:4p15.2	likely benign
NM_005349.4(RBPJ):c.-57-280G>A	single nucleotide variant	not provided [RCV001689410]	Chr4:26320420 [GRCh38] Chr4:26322042 [GRCh37] Chr4:4p15.2	benign
NM_015874.6(RBPJ):c.321+183C>T	single nucleotide variant	not provided [RCV001562304]	Chr4:26415823 [GRCh38] Chr4:26417445 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.1045-53T>G	single nucleotide variant	not provided [RCV001577723]	Chr4:26430366 [GRCh38] Chr4:26431988 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.497-49C>T	single nucleotide variant	not provided [RCV001563215]	Chr4:26424293 [GRCh38] Chr4:26425915 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.322-129G>T	single nucleotide variant	not provided [RCV001689494]	Chr4:26420422 [GRCh38] Chr4:26422044 [GRCh37] Chr4:4p15.2	benign
NM_015874.6(RBPJ):c.889-134A>G	single nucleotide variant	not provided [RCV001682005]	Chr4:26429764 [GRCh38] Chr4:26431386 [GRCh37] Chr4:4p15.2	benign
NM_015874.6(RBPJ):c.141T>C (p.Tyr47=)	single nucleotide variant	not provided [RCV000955334]	Chr4:26406256 [GRCh38] Chr4:26407878 [GRCh37] Chr4:4p15.2	benign
NM_015874.6(RBPJ):c.1023G>A (p.Val341=)	single nucleotide variant	not provided [RCV000909505]	Chr4:26430032 [GRCh38] Chr4:26431654 [GRCh37] Chr4:4p15.2	benign
NM_015874.6(RBPJ):c.1437A>G (p.Thr479=)	single nucleotide variant	RBPJ-related disorder [RCV003913016]\|not provided [RCV000911293]	Chr4:26430980 [GRCh38] Chr4:26432602 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.1066G>C (p.Ala356Pro)	single nucleotide variant	Type 2 diabetes mellitus [RCV000987435]	Chr4:26430440 [GRCh38] Chr4:26432062 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.44C>T (p.Pro15Leu)	single nucleotide variant	not provided [RCV003106634]	Chr4:26386376 [GRCh38] Chr4:26387998 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.889-274A>G	single nucleotide variant	not provided [RCV001671413]	Chr4:26429624 [GRCh38] Chr4:26431246 [GRCh37] Chr4:4p15.2	benign
NM_015874.6(RBPJ):c.156-179G>A	single nucleotide variant	not provided [RCV001527985]	Chr4:26415296 [GRCh38] Chr4:26416918 [GRCh37] Chr4:4p15.2	benign
NM_015874.6(RBPJ):c.156-18dup	duplication	not provided [RCV001621817]	Chr4:26415446..26415447 [GRCh38] Chr4:26417068..26417069 [GRCh37] Chr4:4p15.2	benign
NM_005349.4(RBPJ):c.-57-200G>T	single nucleotide variant	not provided [RCV001537048]	Chr4:26320500 [GRCh38] Chr4:26322122 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.156-211G>A	single nucleotide variant	not provided [RCV001720380]	Chr4:26415264 [GRCh38] Chr4:26416886 [GRCh37] Chr4:4p15.2	benign
NM_015874.6(RBPJ):c.321+147C>T	single nucleotide variant	not provided [RCV001590034]	Chr4:26415787 [GRCh38] Chr4:26417409 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.*80T>A	single nucleotide variant	not provided [RCV001546503]	Chr4:26431087 [GRCh38] Chr4:26432709 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.322-171T>G	single nucleotide variant	not provided [RCV001548665]	Chr4:26420380 [GRCh38] Chr4:26422002 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.60-116A>G	single nucleotide variant	not provided [RCV001647675]	Chr4:26406059 [GRCh38] Chr4:26407681 [GRCh37] Chr4:4p15.2	benign
NM_015874.6(RBPJ):c.497-113C>G	single nucleotide variant	not provided [RCV001613763]	Chr4:26424229 [GRCh38] Chr4:26425851 [GRCh37] Chr4:4p15.2	benign
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	copy number gain	See cases [RCV001194594]	Chr4:49450..49620898 [GRCh37] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p15.31-15.1(chr4:20406475-29134345)x1	copy number loss	not provided [RCV001005527]	Chr4:20406475..29134345 [GRCh37] Chr4:4p15.31-15.1	pathogenic
GRCh37/hg19 4p15.2(chr4:26326650-27059065)x3	copy number gain	not provided [RCV001259841]	Chr4:26326650..27059065 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.1044+155dup	duplication	not provided [RCV001764979]	Chr4:26430199..26430200 [GRCh38] Chr4:26431821..26431822 [GRCh37] Chr4:4p15.2	benign
NM_015874.6(RBPJ):c.775G>T (p.Ala259Ser)	single nucleotide variant	not provided [RCV001321419]	Chr4:26428747 [GRCh38] Chr4:26430369 [GRCh37] Chr4:4p15.2	uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3	copy number gain	not provided [RCV001537928]	Chr4:69671..29702595 [GRCh37] Chr4:4p16.3-15.1	pathogenic
NM_005349.4(RBPJ):c.28del (p.Glu10fs)	deletion	Adams-Oliver syndrome 3 [RCV001329396]	Chr4:26320783 [GRCh38] Chr4:26322405 [GRCh37] Chr4:4p15.2	pathogenic
NM_005349.4(RBPJ):c.-64dup	duplication	Adams-Oliver syndrome 3 [RCV001329397]	Chr4:26319876..26319877 [GRCh38] Chr4:26321498..26321499 [GRCh37] Chr4:4p15.2	pathogenic
NM_015874.6(RBPJ):c.60-68G>A	single nucleotide variant	not provided [RCV001538331]	Chr4:26406107 [GRCh38] Chr4:26407729 [GRCh37] Chr4:4p15.2	benign
NM_015874.6(RBPJ):c.60-285G>A	single nucleotide variant	not provided [RCV001534493]	Chr4:26405890 [GRCh38] Chr4:26407512 [GRCh37] Chr4:4p15.2	benign
NM_015874.6(RBPJ):c.496+160G>A	single nucleotide variant	not provided [RCV001686040]	Chr4:26420885 [GRCh38] Chr4:26422507 [GRCh37] Chr4:4p15.2	benign
NM_015874.6(RBPJ):c.748-195A>G	single nucleotide variant	not provided [RCV001687020]	Chr4:26428525 [GRCh38] Chr4:26430147 [GRCh37] Chr4:4p15.2	benign
NM_015874.6(RBPJ):c.195T>C (p.Ser65=)	single nucleotide variant	not provided [RCV001509697]	Chr4:26415514 [GRCh38] Chr4:26417136 [GRCh37] Chr4:4p15.2	benign
NM_015874.6(RBPJ):c.21-5del	deletion	not provided [RCV001511588]	Chr4:26386338 [GRCh38] Chr4:26387960 [GRCh37] Chr4:4p15.2	benign
NM_015874.6(RBPJ):c.59+1G>T	single nucleotide variant	not specified [RCV005236944]	Chr4:26386392 [GRCh38] Chr4:26388014 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.1249C>T (p.Arg417Ter)	single nucleotide variant	not provided [RCV001755011]	Chr4:26430792 [GRCh38] Chr4:26432414 [GRCh37] Chr4:4p15.2	uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	copy number gain	4p16.3 microduplication syndrome [RCV003319592]	Chr4:68345..34512694 [GRCh37] Chr4:4p16.3-15.1	pathogenic
NM_015874.6(RBPJ):c.134del (p.Lys45fs)	deletion	not provided [RCV001765328]	Chr4:26406248 [GRCh38] Chr4:26407870 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.50G>A (p.Arg17Gln)	single nucleotide variant	Adams-Oliver syndrome 3 [RCV001839129]\|not provided [RCV002034706]	Chr4:26386382 [GRCh38] Chr4:26388004 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.1217G>A (p.Arg406Gln)	single nucleotide variant	not provided [RCV001874251]	Chr4:26430760 [GRCh38] Chr4:26432382 [GRCh37] Chr4:4p15.2	uncertain significance
GRCh37/hg19 4p15.31-14(chr4:19892850-37325128)	copy number loss	not specified [RCV002053409]	Chr4:19892850..37325128 [GRCh37] Chr4:4p15.31-14	pathogenic
GRCh37/hg19 4p15.2-15.1(chr4:23790131-32302608)	copy number loss	not specified [RCV002053411]	Chr4:23790131..32302608 [GRCh37] Chr4:4p15.2-15.1	likely pathogenic
NM_015874.6(RBPJ):c.1007C>T (p.Ala336Val)	single nucleotide variant	Inborn genetic diseases [RCV002555630]\|not provided [RCV001913287]	Chr4:26430016 [GRCh38] Chr4:26431638 [GRCh37] Chr4:4p15.2	likely benign\|uncertain significance
NM_015874.6(RBPJ):c.405C>T (p.Gly135=)	single nucleotide variant	not provided [RCV002023453]	Chr4:26420634 [GRCh38] Chr4:26422256 [GRCh37] Chr4:4p15.2	likely benign\|uncertain significance
NM_015874.6(RBPJ):c.59+4A>G	single nucleotide variant	not provided [RCV002009823]	Chr4:26386395 [GRCh38] Chr4:26388017 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.1427C>G (p.Thr476Ser)	single nucleotide variant	not provided [RCV001866666]	Chr4:26430970 [GRCh38] Chr4:26432592 [GRCh37] Chr4:4p15.2	conflicting interpretations of pathogenicity\|uncertain significance
NM_015874.6(RBPJ):c.257C>G (p.Pro86Arg)	single nucleotide variant	not provided [RCV001977634]	Chr4:26415576 [GRCh38] Chr4:26417198 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.229G>A (p.Asp77Asn)	single nucleotide variant	not provided [RCV001939144]	Chr4:26415548 [GRCh38] Chr4:26417170 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.462T>C (p.Pro154=)	single nucleotide variant	not provided [RCV001993298]	Chr4:26420691 [GRCh38] Chr4:26422313 [GRCh37] Chr4:4p15.2	likely benign
NC_000004.12:g.26320757A>T	single nucleotide variant	not provided [RCV001891528]	Chr4:26320757 [GRCh38] Chr4:26322379 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.129A>G (p.Ala43=)	single nucleotide variant	not provided [RCV002192472]	Chr4:26406244 [GRCh38] Chr4:26407866 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.774C>T (p.Thr258=)	single nucleotide variant	not provided [RCV002208388]	Chr4:26428746 [GRCh38] Chr4:26430368 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.634+17G>T	single nucleotide variant	not provided [RCV002086331]	Chr4:26424496 [GRCh38] Chr4:26426118 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.156-18T>C	single nucleotide variant	not provided [RCV002151252]	Chr4:26415457 [GRCh38] Chr4:26417079 [GRCh37] Chr4:4p15.2	benign
NM_015874.6(RBPJ):c.888+14T>C	single nucleotide variant	not provided [RCV002116080]	Chr4:26428874 [GRCh38] Chr4:26430496 [GRCh37] Chr4:4p15.2	benign
NM_015874.6(RBPJ):c.258G>A (p.Pro86=)	single nucleotide variant	not provided [RCV002197557]	Chr4:26415577 [GRCh38] Chr4:26417199 [GRCh37] Chr4:4p15.2	likely benign
NC_000004.12:g.26320827G>C	single nucleotide variant	not provided [RCV002108342]	Chr4:26320827 [GRCh38] Chr4:26322449 [GRCh37] Chr4:4p15.2	benign
NM_015874.6(RBPJ):c.1374C>T (p.Asn458=)	single nucleotide variant	not provided [RCV002133573]	Chr4:26430917 [GRCh38] Chr4:26432539 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.1044+8C>T	single nucleotide variant	not provided [RCV002172893]	Chr4:26430061 [GRCh38] Chr4:26431683 [GRCh37] Chr4:4p15.2	benign
NM_015874.6(RBPJ):c.321+18G>C	single nucleotide variant	not provided [RCV002114572]	Chr4:26415658 [GRCh38] Chr4:26417280 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.21-6_21-5del	deletion	not provided [RCV002195597]	Chr4:26386338..26386339 [GRCh38] Chr4:26387960..26387961 [GRCh37] Chr4:4p15.2	benign
NM_015874.6(RBPJ):c.204G>A (p.Lys68=)	single nucleotide variant	not provided [RCV002171307]	Chr4:26415523 [GRCh38] Chr4:26417145 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.21-5dup	duplication	not provided [RCV002081369]	Chr4:26386337..26386338 [GRCh38] Chr4:26387959..26387960 [GRCh37] Chr4:4p15.2	benign
NM_015874.6(RBPJ):c.59+14T>G	single nucleotide variant	not provided [RCV002180499]	Chr4:26386405 [GRCh38] Chr4:26388027 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.634+15G>A	single nucleotide variant	not provided [RCV002160208]	Chr4:26424494 [GRCh38] Chr4:26426116 [GRCh37] Chr4:4p15.2	benign
NM_015874.6(RBPJ):c.897A>G (p.Pro299=)	single nucleotide variant	not provided [RCV002184156]	Chr4:26429906 [GRCh38] Chr4:26431528 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.156-14dup	duplication	not provided [RCV002157981]	Chr4:26415457..26415458 [GRCh38] Chr4:26417079..26417080 [GRCh37] Chr4:4p15.2	benign
NM_005349.4(RBPJ):c.-58+3A>C	single nucleotide variant	not provided [RCV002265369]	Chr4:26319891 [GRCh38] Chr4:26321513 [GRCh37] Chr4:4p15.2	uncertain significance
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	copy number gain	FETAL DEMISE [RCV002282978]	Chr4:114784..47569569 [GRCh37] Chr4:4p16.3-12	pathogenic
NM_015874.6(RBPJ):c.1375G>A (p.Glu459Lys)	single nucleotide variant	Adams-Oliver syndrome 3 [RCV002266599]	Chr4:26430918 [GRCh38] Chr4:26432540 [GRCh37] Chr4:4p15.2	uncertain significance
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	copy number gain	See cases [RCV002292704]	Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11	pathogenic
NM_015874.6(RBPJ):c.1327_1328delinsAA (p.Ala443Lys)	indel	not provided [RCV002297416]	Chr4:26430870..26430871 [GRCh38] Chr4:26432492..26432493 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.140A>G (p.Tyr47Cys)	single nucleotide variant	Adams-Oliver syndrome 3 [RCV002471971]\|RBPJ-related disorder [RCV004731273]	Chr4:26406255 [GRCh38] Chr4:26407877 [GRCh37] Chr4:4p15.2	likely pathogenic\|uncertain significance
NM_015874.6(RBPJ):c.155G>C (p.Arg52Thr)	single nucleotide variant	Adams-Oliver syndrome 3 [RCV002467425]	Chr4:26406270 [GRCh38] Chr4:26407892 [GRCh37] Chr4:4p15.2	likely pathogenic
NM_015874.6(RBPJ):c.155+6A>C	single nucleotide variant	not specified [RCV004701133]	Chr4:26406276 [GRCh38] Chr4:26407898 [GRCh37] Chr4:4p15.2	uncertain significance
NM_001374401.1(RBPJ):c.-166-73601_-166-68683del	deletion	Schizophrenia [RCV002463477]	Chr4:26288845..26293763 [GRCh38] Chr4:26290467..26295385 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.208A>G (p.Lys70Glu)	single nucleotide variant	Inborn genetic diseases [RCV002906200]	Chr4:26415527 [GRCh38] Chr4:26417149 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.59+17_59+20del	deletion	not provided [RCV002816693]	Chr4:26386406..26386409 [GRCh38] Chr4:26388028..26388031 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.156-7T>G	single nucleotide variant	not provided [RCV002685868]	Chr4:26415468 [GRCh38] Chr4:26417090 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.259T>C (p.Cys87Arg)	single nucleotide variant	not provided [RCV002771582]	Chr4:26415578 [GRCh38] Chr4:26417200 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.864T>C (p.Ser288=)	single nucleotide variant	not provided [RCV002731153]	Chr4:26428836 [GRCh38] Chr4:26430458 [GRCh37] Chr4:4p15.2	likely benign
NC_000004.12:g.26320822T>C	single nucleotide variant	not provided [RCV002775065]	Chr4:26320822 [GRCh38] Chr4:26322444 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.1370C>G (p.Pro457Arg)	single nucleotide variant	Inborn genetic diseases [RCV004961047]\|not provided [RCV003095525]	Chr4:26430913 [GRCh38] Chr4:26432535 [GRCh37] Chr4:4p15.2	likely benign\|uncertain significance
NM_015874.6(RBPJ):c.552A>G (p.Thr184=)	single nucleotide variant	not provided [RCV002881536]	Chr4:26424397 [GRCh38] Chr4:26426019 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.888+10T>A	single nucleotide variant	not provided [RCV003055797]	Chr4:26428870 [GRCh38] Chr4:26430492 [GRCh37] Chr4:4p15.2	likely benign
NC_000004.12:g.26320825C>T	single nucleotide variant	not provided [RCV002740296]	Chr4:26320825 [GRCh38] Chr4:26322447 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.991A>G (p.Met331Val)	single nucleotide variant	not provided [RCV002927734]	Chr4:26430000 [GRCh38] Chr4:26431622 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.226C>T (p.Arg76Cys)	single nucleotide variant	not provided [RCV002847153]	Chr4:26415545 [GRCh38] Chr4:26417167 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.416A>T (p.Asp139Val)	single nucleotide variant	Inborn genetic diseases [RCV002869720]	Chr4:26420645 [GRCh38] Chr4:26422267 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.156-9A>T	single nucleotide variant	RBPJ-related disorder [RCV004754884]\|not provided [RCV002571028]	Chr4:26415466 [GRCh38] Chr4:26417088 [GRCh37] Chr4:4p15.2	benign\|likely benign
NM_015874.6(RBPJ):c.404G>T (p.Gly135Val)	single nucleotide variant	Inborn genetic diseases [RCV002911041]	Chr4:26420633 [GRCh38] Chr4:26422255 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.748-17T>C	single nucleotide variant	not provided [RCV003018391]	Chr4:26428703 [GRCh38] Chr4:26430325 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.1383C>T (p.Asn461=)	single nucleotide variant	not provided [RCV002786149]	Chr4:26430926 [GRCh38] Chr4:26432548 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.47A>C (p.Lys16Thr)	single nucleotide variant	not provided [RCV003022287]	Chr4:26386379 [GRCh38] Chr4:26388001 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.693T>C (p.Tyr231=)	single nucleotide variant	not provided [RCV002700949]	Chr4:26424689 [GRCh38] Chr4:26426311 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.71G>A (p.Arg24Gln)	single nucleotide variant	Inborn genetic diseases [RCV004065931]\|not provided [RCV002626695]	Chr4:26406186 [GRCh38] Chr4:26407808 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.1128A>G (p.Val376=)	single nucleotide variant	not provided [RCV002872056]	Chr4:26430502 [GRCh38] Chr4:26432124 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.936C>A (p.Gly312=)	single nucleotide variant	not provided [RCV003026431]	Chr4:26429945 [GRCh38] Chr4:26431567 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.748-4A>G	single nucleotide variant	not provided [RCV003027797]	Chr4:26428716 [GRCh38] Chr4:26430338 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.60-13T>C	single nucleotide variant	not provided [RCV002834188]	Chr4:26406162 [GRCh38] Chr4:26407784 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.447A>G (p.Lys149=)	single nucleotide variant	not provided [RCV002604393]	Chr4:26420676 [GRCh38] Chr4:26422298 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.1410C>T (p.Asn470=)	single nucleotide variant	not provided [RCV002589617]	Chr4:26430953 [GRCh38] Chr4:26432575 [GRCh37] Chr4:4p15.2	likely benign
NC_000004.12:g.26320793C>T	single nucleotide variant	not provided [RCV002943634]	Chr4:26320793 [GRCh38] Chr4:26322415 [GRCh37] Chr4:4p15.2	uncertain significance
NM_005349.4(RBPJ):c.20C>A (p.Ser7Ter)	single nucleotide variant	Adams-Oliver syndrome 3 [RCV003135218]	Chr4:26320776 [GRCh38] Chr4:26322398 [GRCh37] Chr4:4p15.2	uncertain significance
GRCh38/hg38 4p15.33-14(chr4:11399082-38137335)	copy number loss	4p partial monosomy syndrome [RCV003155905]	Chr4:11399082..38137335 [GRCh38] Chr4:4p15.33-14	pathogenic
NM_015874.6(RBPJ):c.1063G>A (p.Val355Ile)	single nucleotide variant	Inborn genetic diseases [RCV003200527]	Chr4:26430437 [GRCh38] Chr4:26432059 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.1294A>C (p.Thr432Pro)	single nucleotide variant	Inborn genetic diseases [RCV003210792]	Chr4:26430837 [GRCh38] Chr4:26432459 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.461C>T (p.Pro154Leu)	single nucleotide variant	not provided [RCV003327904]	Chr4:26420690 [GRCh38] Chr4:26422312 [GRCh37] Chr4:4p15.2	uncertain significance
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	copy number gain	Neurodevelopmental disorder [RCV003327613]	Chr4:85624..57073230 [GRCh38] Chr4:4p16.3-q12	pathogenic
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	copy number gain	Neurodevelopmental disorder [RCV003327611]	Chr4:1..49062177 [GRCh38] Chr4:4p16.3-11	pathogenic
GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	copy number gain	Neurodevelopmental disorder [RCV003327612]	Chr4:2904667..42963232 [GRCh38] Chr4:4p16.3-13	pathogenic
NM_005349.4(RBPJ):c.37C>G (p.Pro13Ala)	single nucleotide variant	not specified [RCV003479827]	Chr4:26320793 [GRCh38] Chr4:26322415 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.581G>A (p.Gly194Glu)	single nucleotide variant	not provided [RCV003571843]	Chr4:26424426 [GRCh38] Chr4:26426048 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.46A>G (p.Lys16Glu)	single nucleotide variant	not provided [RCV003439279]	Chr4:26386378 [GRCh38] Chr4:26388000 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.2(RBPJ):c.7G>C (p.Gly3Arg)	single nucleotide variant	not provided [RCV003434992]	Chr4:26319881 [GRCh38] Chr4:26321503 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.1023G>T (p.Val341=)	single nucleotide variant	not provided [RCV003434993]	Chr4:26430032 [GRCh38] Chr4:26431654 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.805C>G (p.Gln269Glu)	single nucleotide variant	RBPJ-related disorder [RCV003408589]	Chr4:26428777 [GRCh38] Chr4:26430399 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.316G>A (p.Gly106Arg)	single nucleotide variant	not provided [RCV003441437]	Chr4:26415635 [GRCh38] Chr4:26417257 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.188T>C (p.Met63Thr)	single nucleotide variant	not provided [RCV003439280]	Chr4:26415507 [GRCh38] Chr4:26417129 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.1325G>A (p.Ser442Asn)	single nucleotide variant	RBPJ-related disorder [RCV003408311]	Chr4:26430868 [GRCh38] Chr4:26432490 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.497-3C>T	single nucleotide variant	not provided [RCV003545829]	Chr4:26424339 [GRCh38] Chr4:26425961 [GRCh37] Chr4:4p15.2	uncertain significance
NM_203283.5(RBPJ):c.-47+878_-47+892del	deletion	not provided [RCV003560343]	Chr4:26320765..26320779 [GRCh38] Chr4:26322387..26322401 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.103G>A (p.Val35Ile)	single nucleotide variant	not provided [RCV003661889]	Chr4:26406218 [GRCh38] Chr4:26407840 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.442A>G (p.Ile148Val)	single nucleotide variant	not provided [RCV003698361]	Chr4:26420671 [GRCh38] Chr4:26422293 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.1431T>C (p.Ser477=)	single nucleotide variant	not provided [RCV003835749]	Chr4:26430974 [GRCh38] Chr4:26432596 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.996C>T (p.Gly332=)	single nucleotide variant	not provided [RCV003834936]	Chr4:26430005 [GRCh38] Chr4:26431627 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.440G>A (p.Arg147Gln)	single nucleotide variant	not provided [RCV003553554]	Chr4:26420669 [GRCh38] Chr4:26422291 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.321+8A>G	single nucleotide variant	not provided [RCV003721027]	Chr4:26415648 [GRCh38] Chr4:26417270 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.888+4T>G	single nucleotide variant	not provided [RCV003847242]	Chr4:26428864 [GRCh38] Chr4:26430486 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.29G>T (p.Gly10Val)	single nucleotide variant	not provided [RCV003844294]	Chr4:26386361 [GRCh38] Chr4:26387983 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.98A>G (p.Gln33Arg)	single nucleotide variant	Inborn genetic diseases [RCV004443523]	Chr4:26406213 [GRCh38] Chr4:26407835 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.609G>A (p.Gln203=)	single nucleotide variant	RBPJ-related disorder [RCV003966812]	Chr4:26424454 [GRCh38] Chr4:26426076 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.1395G>A (p.Glu465=)	single nucleotide variant	RBPJ-related disorder [RCV003971838]\|not provided [RCV005102998]	Chr4:26430938 [GRCh38] Chr4:26432560 [GRCh37] Chr4:4p15.2	benign\|likely benign
NM_005349.4(RBPJ):c.34C>G (p.Pro12Ala)	single nucleotide variant	RBPJ-related disorder [RCV003911452]	Chr4:26320790 [GRCh38] Chr4:26322412 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.1004T>C (p.Leu335Pro)	single nucleotide variant	Inborn genetic diseases [RCV004443522]\|not provided [RCV005104656]	Chr4:26430013 [GRCh38] Chr4:26431635 [GRCh37] Chr4:4p15.2	likely benign\|uncertain significance
NM_015874.6(RBPJ):c.103G>C (p.Val35Leu)	single nucleotide variant	RBPJ-related disorder [RCV003901566]	Chr4:26406218 [GRCh38] Chr4:26407840 [GRCh37] Chr4:4p15.2	uncertain significance
NC_000004.11:g.(?_25125553)_(26492222_?)dup	duplication	not provided [RCV004580842]	Chr4:25125553..26492222 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.888+94A>G	single nucleotide variant	not provided [RCV004729158]	Chr4:26428954 [GRCh38] Chr4:26430576 [GRCh37] Chr4:4p15.2	likely benign
NM_203283.5(RBPJ):c.-47+1dup	duplication	RBPJ-related disorder [RCV004755227]	Chr4:26319887..26319888 [GRCh38] Chr4:26321509..26321510 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.541C>T (p.Arg181Ter)	single nucleotide variant	not provided [RCV004769073]	Chr4:26424386 [GRCh38] Chr4:26426008 [GRCh37] Chr4:4p15.2	uncertain significance
NM_005349.4(RBPJ):c.23C>A (p.Pro8His)	single nucleotide variant	Inborn genetic diseases [RCV004957675]	Chr4:26320779 [GRCh38] Chr4:26322401 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.59+14T>C	single nucleotide variant	not provided [RCV005087360]	Chr4:26386405 [GRCh38] Chr4:26388027 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.257C>T (p.Pro86Leu)	single nucleotide variant	not provided [RCV005068146]	Chr4:26415576 [GRCh38] Chr4:26417198 [GRCh37] Chr4:4p15.2	uncertain significance
NC_000004.12:g.26320807A>G	single nucleotide variant	not provided [RCV005067467]	Chr4:26320807 [GRCh38] Chr4:26322429 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.21-11T>A	single nucleotide variant	not provided [RCV005074175]	Chr4:26386342 [GRCh38] Chr4:26387964 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.1404C>A (p.Tyr468Ter)	single nucleotide variant	not provided [RCV005143238]	Chr4:26430947 [GRCh38] Chr4:26432569 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.999T>G (p.Pro333=)	single nucleotide variant	not provided [RCV005245332]	Chr4:26430008 [GRCh38] Chr4:26431630 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.1009C>T (p.Pro337Ser)	single nucleotide variant	not provided [RCV005169752]	Chr4:26430018 [GRCh38] Chr4:26431640 [GRCh37] Chr4:4p15.2	uncertain significance
NM_015874.6(RBPJ):c.840A>G (p.Thr280=)	single nucleotide variant	not provided [RCV005160274]	Chr4:26428812 [GRCh38] Chr4:26430434 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.156-6C>A	single nucleotide variant	not provided [RCV005189416]	Chr4:26415469 [GRCh38] Chr4:26417091 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.227G>A (p.Arg76His)	single nucleotide variant	not provided [RCV005136467]	Chr4:26415546 [GRCh38] Chr4:26417168 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.813T>C (p.His271=)	single nucleotide variant	not provided [RCV005197950]	Chr4:26428785 [GRCh38] Chr4:26430407 [GRCh37] Chr4:4p15.2	likely benign
NM_015874.6(RBPJ):c.300G>A (p.Gln100=)	single nucleotide variant	not provided [RCV005204013]	Chr4:26415619 [GRCh38] Chr4:26417241 [GRCh37] Chr4:4p15.2	likely benign

Predicted Target Of

	Summary Value
Count of predictions:	5033
Count of miRNA genes:	1285
Interacting mature miRNAs:	1680
Transcripts:	ENST00000342295, ENST00000342320, ENST00000345843, ENST00000348160, ENST00000355476, ENST00000361572, ENST00000504423, ENST00000504907, ENST00000504938, ENST00000505727, ENST00000505958, ENST00000506903, ENST00000506956, ENST00000507561, ENST00000507574, ENST00000509158, ENST00000510725, ENST00000510778, ENST00000511401, ENST00000511451, ENST00000511546, ENST00000512351, ENST00000512671, ENST00000513182, ENST00000514380, ENST00000514656, ENST00000514675, ENST00000514730, ENST00000514807, ENST00000515023, ENST00000515573
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
597384473	GWAS1480547_H	monocyte percentage of leukocytes QTL GWAS1480547 (human)		1e-10	monocyte quantity (VT:0000223)	blood monocyte count to total leukocyte count ratio (CMO:0000374)	4	26273825	26273826	Human
407123776	GWAS772752_H	energy intake QTL GWAS772752 (human)		0.000004	energy intake		4	26135397	26135398	Human
597448856	GWAS1544930_H	calcium measurement QTL GWAS1544930 (human)		1e-11	calcium measurement	blood calcium level (CMO:0000502)	4	26172941	26172942	Human
597093020	GWAS1189094_H	inflammatory bowel disease QTL GWAS1189094 (human)		1e-08	inflammatory bowel disease		4	26130739	26130740	Human
597413137	GWAS1509211_H	BMI-adjusted waist-hip ratio QTL GWAS1509211 (human)		1e-10	body size trait (VT:0100005)		4	26204892	26204893	Human
597047452	GWAS1143526_H	BMI-adjusted waist-hip ratio QTL GWAS1143526 (human)		2e-20	body size trait (VT:0100005)		4	26400365	26400366	Human
597450256	GWAS1546330_H	BMI-adjusted waist-hip ratio QTL GWAS1546330 (human)		8e-12	body size trait (VT:0100005)		4	26301404	26301405	Human
597395734	GWAS1491808_H	BMI-adjusted waist circumference QTL GWAS1491808 (human)		2e-08	body size trait (VT:0100005)		4	26301404	26301405	Human
597450254	GWAS1546328_H	BMI-adjusted waist-hip ratio QTL GWAS1546328 (human)		4e-08	body size trait (VT:0100005)		4	26293799	26293800	Human
597242123	GWAS1338197_H	BMI-adjusted waist-hip ratio QTL GWAS1338197 (human)		7e-09	body size trait (VT:0100005)		4	26329849	26329850	Human
597450255	GWAS1546329_H	BMI-adjusted waist-hip ratio QTL GWAS1546329 (human)		3e-08	body size trait (VT:0100005)		4	26306352	26306353	Human
597423631	GWAS1519705_H	BMI-adjusted waist-hip ratio QTL GWAS1519705 (human)		1e-11	body size trait (VT:0100005)		4	26301404	26301405	Human
597243660	GWAS1339734_H	blood protein measurement QTL GWAS1339734 (human)		2e-38	blood protein amount (VT:0005416)	blood protein measurement (CMO:0000028)	4	26151105	26151106	Human
597423630	GWAS1519704_H	BMI-adjusted waist-hip ratio QTL GWAS1519704 (human)		1e-08	body size trait (VT:0100005)		4	26306352	26306353	Human
597423629	GWAS1519703_H	BMI-adjusted waist-hip ratio QTL GWAS1519703 (human)		3e-08	body size trait (VT:0100005)		4	26293799	26293800	Human
597035404	GWAS1131478_H	triglyceride measurement QTL GWAS1131478 (human)		5e-08	triglyceride measurement	blood triglyceride level (CMO:0000118)	4	26329849	26329850	Human
597473927	GWAS1570001_H	Takayasu arteritis QTL GWAS1570001 (human)		0.000007	Takayasu arteritis		4	26297503	26297504	Human
597247620	GWAS1343694_H	BMI-adjusted waist-hip ratio QTL GWAS1343694 (human)		3e-08	body size trait (VT:0100005)		4	26329850	26329851	Human
597267847	GWAS1363921_H	schizophrenia QTL GWAS1363921 (human)		0.000008	schizophrenia		4	26334737	26334738	Human
406998493	GWAS647469_H	BMI-adjusted waist circumference QTL GWAS647469 (human)		2e-18	body size trait (VT:0100005)		4	26400365	26400366	Human
597029173	GWAS1125247_H	BMI-adjusted waist-hip ratio QTL GWAS1125247 (human)		4e-20	body size trait (VT:0100005)		4	26356271	26356272	Human
597205809	GWAS1301883_H	rheumatoid arthritis QTL GWAS1301883 (human)		7e-17	rheumatoid arthritis		4	26109971	26109972	Human
597344432	GWAS1440506_H	color vision disorder QTL GWAS1440506 (human)		0.0000003	color vision disorder		4	26141010	26141011	Human
407071337	GWAS720313_H	BMI-adjusted waist-hip ratio QTL GWAS720313 (human)		1e-21	body size trait (VT:0100005)		4	26350741	26350742	Human
597414069	GWAS1510143_H	metabolic syndrome QTL GWAS1510143 (human)		2e-08	metabolic syndrome		4	26307170	26307171	Human
597380525	GWAS1476599_H	neutrophil count QTL GWAS1476599 (human)		6e-11	neutrophil quantity (VT:0000222)	blood neutrophil count (CMO:0000030)	4	26281184	26281185	Human
597492132	GWAS1588206_H	gluteofemoral adipose tissue measurement QTL GWAS1588206 (human)		3e-08	gluteofemoral adipose tissue measurement		4	26106575	26106576	Human
597254183	GWAS1350257_H	aspartate aminotransferase measurement QTL GWAS1350257 (human)		8e-12	aspartate aminotransferase measurement	blood aspartate aminotransferase activity level (CMO:0000580)	4	26151105	26151106	Human
597316568	GWAS1412642_H	BMI-adjusted waist circumference QTL GWAS1412642 (human)		1e-08	body size trait (VT:0100005)		4	26329811	26329812	Human
407070465	GWAS719441_H	waist-hip ratio QTL GWAS719441 (human)		5e-08	waist-hip ratio	waist to hip ratio (WHR) (CMO:0000020)	4	26350741	26350742	Human
406934025	GWAS583001_H	heel bone mineral density QTL GWAS583001 (human)		1e-12	heel bone mineral density	bone mineral density (CMO:0001226)	4	26329811	26329812	Human
597114205	GWAS1210279_H	protein measurement QTL GWAS1210279 (human)		2e-08	protein measurement		4	26352008	26352009	Human
597453393	GWAS1549467_H	BMI-adjusted waist circumference QTL GWAS1549467 (human)		3e-10	body size trait (VT:0100005)		4	26109102	26109103	Human
597316567	GWAS1412641_H	BMI-adjusted waist circumference QTL GWAS1412641 (human)		2e-09	body size trait (VT:0100005)		4	26123713	26123714	Human
597293515	GWAS1389589_H	BMI-adjusted waist-hip ratio QTL GWAS1389589 (human)		4e-09	body size trait (VT:0100005)		4	26329849	26329850	Human
596960705	GWAS1080224_H	metabolic syndrome QTL GWAS1080224 (human)		2e-08	metabolic syndrome		4	26307170	26307171	Human
597368002	GWAS1464076_H	BMI-adjusted waist circumference QTL GWAS1464076 (human)		2e-09	body size trait (VT:0100005)		4	26207221	26207222	Human
597092812	GWAS1188886_H	Crohn's disease QTL GWAS1188886 (human)		0.0000003	intestine integrity trait (VT:0010554)		4	26130739	26130740	Human
597425089	GWAS1521163_H	BMI-adjusted waist-hip ratio QTL GWAS1521163 (human)		2e-10	body size trait (VT:0100005)		4	26301404	26301405	Human
597511367	GWAS1607441_H	BMI-adjusted waist circumference QTL GWAS1607441 (human)		4e-12	body size trait (VT:0100005)		4	26301404	26301405	Human
597511366	GWAS1607440_H	BMI-adjusted waist circumference QTL GWAS1607440 (human)		2e-09	body size trait (VT:0100005)		4	26109102	26109103	Human
597466944	GWAS1563018_H	BMI-adjusted waist-hip ratio QTL GWAS1563018 (human)		2e-17	body size trait (VT:0100005)		4	26305554	26305555	Human
597460673	GWAS1556747_H	waist-hip ratio QTL GWAS1556747 (human)		3e-17	waist-hip ratio	waist to hip ratio (WHR) (CMO:0000020)	4	26307170	26307171	Human
597507454	GWAS1603528_H	Headache, type 2 diabetes mellitus QTL GWAS1603528 (human)		3e-08	Headache, type 2 diabetes mellitus		4	26312410	26312411	Human
597034354	GWAS1130428_H	heel bone mineral density QTL GWAS1130428 (human)		5e-10	heel bone mineral density	bone mineral density (CMO:0001226)	4	26329811	26329812	Human
597060081	GWAS1156155_H	reaction time measurement QTL GWAS1156155 (human)		0.000002	cognitive behavior trait (VT:0010450)		4	26390517	26390518	Human
407112495	GWAS761471_H	waist-hip ratio QTL GWAS761471 (human)		1e-21	waist-hip ratio	waist to hip ratio (WHR) (CMO:0000020)	4	26363777	26363778	Human
597223926	GWAS1320000_H	BMI-adjusted waist circumference QTL GWAS1320000 (human)		2e-08	body size trait (VT:0100005)		4	26111224	26111225	Human
597037944	GWAS1134018_H	rheumatoid arthritis QTL GWAS1134018 (human)		1e-16	rheumatoid arthritis		4	26118379	26118380	Human
597308661	GWAS1404735_H	total blood protein measurement QTL GWAS1404735 (human)		1e-35	total blood protein measurement	blood protein measurement (CMO:0000028)	4	26151105	26151106	Human
597223927	GWAS1320001_H	BMI-adjusted waist circumference QTL GWAS1320001 (human)		3e-08	body size trait (VT:0100005)		4	26329811	26329812	Human
597451244	GWAS1547318_H	rheumatoid arthritis QTL GWAS1547318 (human)		1e-16	rheumatoid arthritis		4	26106575	26106576	Human
597523695	GWAS1619769_H	body mass index QTL GWAS1619769 (human)		2e-08	body mass index	body mass index (BMI) (CMO:0000105)	4	26204892	26204893	Human
597028972	GWAS1125046_H	rheumatoid arthritis QTL GWAS1125046 (human)		2e-15	rheumatoid arthritis		4	26118379	26118380	Human
597168356	GWAS1264430_H	aspartate aminotransferase measurement QTL GWAS1264430 (human)		2e-10	aspartate aminotransferase measurement	blood aspartate aminotransferase activity level (CMO:0000580)	4	26151105	26151106	Human
597460960	GWAS1557034_H	waist-hip ratio QTL GWAS1557034 (human)		5e-16	waist-hip ratio	waist to hip ratio (WHR) (CMO:0000020)	4	26305554	26305555	Human

SHGC-64083

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	26,435,684 - 26,435,808	UniSTS	GRCh37
Build 36	4	26,044,782 - 26,044,906	RGD	NCBI36
Celera	4	26,886,446 - 26,886,570	RGD
Cytogenetic Map	4	p15.2	UniSTS
HuRef	4	25,773,994 - 25,774,118	UniSTS

SHGC-67732

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	26,435,783 - 26,435,940	UniSTS	GRCh37
Build 36	4	26,044,881 - 26,045,038	RGD	NCBI36
Celera	4	26,886,545 - 26,886,702	RGD
Cytogenetic Map	4	p15.2	UniSTS
HuRef	4	25,774,093 - 25,774,250	UniSTS
GeneMap99-GB4 RH Map	4	105.66	UniSTS
NCBI RH Map	4	274.8	UniSTS

STS-T67414

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	26,432,528 - 26,432,674	UniSTS	GRCh37
Build 36	4	26,041,626 - 26,041,772	RGD	NCBI36
Celera	4	26,883,290 - 26,883,436	RGD
Cytogenetic Map	4	p15.2	UniSTS
HuRef	4	25,770,838 - 25,770,984	UniSTS
TNG Radiation Hybrid Map	4	16306.0	UniSTS
GeneMap99-GB4 RH Map	4	108.43	UniSTS
NCBI RH Map	4	266.0	UniSTS

SHGC-67311

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	26,436,336 - 26,436,584	UniSTS	GRCh37
Build 36	4	26,045,434 - 26,045,682	RGD	NCBI36
Celera	4	26,887,098 - 26,887,346	RGD
Cytogenetic Map	4	p15.2	UniSTS
HuRef	4	25,774,646 - 25,774,894	UniSTS
TNG Radiation Hybrid Map	4	25338.0	UniSTS

G48208

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	26,411,761 - 26,411,855	UniSTS	GRCh37
Build 36	4	26,020,859 - 26,020,953	RGD	NCBI36
Celera	4	26,862,525 - 26,862,619	RGD
Cytogenetic Map	4	p15.2	UniSTS
HuRef	4	25,750,079 - 25,750,173	UniSTS
TNG Radiation Hybrid Map	4	16289.0	UniSTS

SHGC-133079

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	26,435,620 - 26,435,934	UniSTS	GRCh37
Build 36	4	26,044,718 - 26,045,032	RGD	NCBI36
Celera	4	26,886,382 - 26,886,696	RGD
Cytogenetic Map	4	p15.2	UniSTS
HuRef	4	25,773,930 - 25,774,244	UniSTS
TNG Radiation Hybrid Map	4	16309.0	UniSTS

SHGC-67733

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	26,432,600 - 26,432,770	UniSTS	GRCh37
Build 36	4	26,041,698 - 26,041,868	RGD	NCBI36
Celera	4	26,883,362 - 26,883,532	RGD
Cytogenetic Map	4	p15.2	UniSTS
HuRef	4	25,770,910 - 25,771,080	UniSTS
GeneMap99-GB4 RH Map	4	105.66	UniSTS
NCBI RH Map	4	274.8	UniSTS

SHGC-59198

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	26,430,910 - 26,431,068	UniSTS	GRCh37
Build 36	4	26,040,008 - 26,040,166	RGD	NCBI36
Celera	4	26,881,672 - 26,881,830	RGD
Cytogenetic Map	4	p15.2	UniSTS
HuRef	4	25,769,220 - 25,769,378	UniSTS
GeneMap99-GB4 RH Map	4	105.66	UniSTS
Whitehead-RH Map	4	134.2	UniSTS

D4S858

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	26,431,052 - 26,431,204	UniSTS	GRCh37
Build 36	4	26,040,150 - 26,040,302	RGD	NCBI36
Celera	4	26,881,814 - 26,881,966	RGD
Cytogenetic Map	4	p15.2	UniSTS
HuRef	4	25,769,362 - 25,769,514	UniSTS
TNG Radiation Hybrid Map	4	16306.0	UniSTS
Stanford-G3 RH Map	4	1608.0	UniSTS
Whitehead-RH Map	4	134.3	UniSTS
NCBI RH Map	4	282.6	UniSTS

SHGC-59196

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	26,431,665 - 26,431,791	UniSTS	GRCh37
Build 36	4	26,040,763 - 26,040,889	RGD	NCBI36
Celera	4	26,882,427 - 26,882,553	RGD
Cytogenetic Map	4	p15.2	UniSTS
HuRef	4	25,769,975 - 25,770,101	UniSTS
GeneMap99-GB4 RH Map	4	107.48	UniSTS
Whitehead-RH Map	4	129.0	UniSTS

RBPSUH_4000

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	26,432,322 - 26,433,023	UniSTS	GRCh37
Build 36	4	26,041,420 - 26,042,121	RGD	NCBI36
Celera	4	26,883,084 - 26,883,785	RGD
HuRef	4	25,770,632 - 25,771,333	UniSTS

D10S16

No map positions available.

RH35837

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	4	p15.2	UniSTS

G43168

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	4	p15.2	UniSTS

D10S16

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	3	p24.2	UniSTS
Cytogenetic Map	21	q21.3	UniSTS
Cytogenetic Map	1	p36.33	UniSTS
Cytogenetic Map	16	q24.1	UniSTS
Cytogenetic Map	5	q31	UniSTS
Cytogenetic Map	17	p11.2	UniSTS
Cytogenetic Map	11	q24.2	UniSTS
Cytogenetic Map	5	q23.3-q31.1	UniSTS
Cytogenetic Map	7	q32	UniSTS
Cytogenetic Map	1	q21-q23	UniSTS
Cytogenetic Map	X	p11.23	UniSTS
Cytogenetic Map	2	q11.2-q12	UniSTS
Cytogenetic Map	7	p13	UniSTS
Cytogenetic Map	19	q13.4	UniSTS
Cytogenetic Map	17	q25.1	UniSTS
Cytogenetic Map	1	p36.21	UniSTS
Cytogenetic Map	3	p22	UniSTS
Cytogenetic Map	19	p13.2	UniSTS
Cytogenetic Map	2	p12	UniSTS
Cytogenetic Map	19	q13.12	UniSTS
Cytogenetic Map	9	p13.3-p12	UniSTS
Cytogenetic Map	3	p21.1	UniSTS
Cytogenetic Map	5	p13.1	UniSTS
Cytogenetic Map	14	q24.3	UniSTS
Cytogenetic Map	2	p25.2	UniSTS
Cytogenetic Map	5	q21-q22	UniSTS
Cytogenetic Map	2	p22.1	UniSTS
Cytogenetic Map	1	q32.3	UniSTS
Cytogenetic Map	1	p36.11	UniSTS
Cytogenetic Map	18	q12	UniSTS
Cytogenetic Map	19	q13.41	UniSTS
Cytogenetic Map	17	q21	UniSTS
Cytogenetic Map	3	q27.3	UniSTS
Cytogenetic Map	2	q37.3	UniSTS
Cytogenetic Map	19	p13.3	UniSTS
Cytogenetic Map	2	p15	UniSTS
Cytogenetic Map	20	q13.32	UniSTS
Cytogenetic Map	10	q26	UniSTS
Cytogenetic Map	19	q13.3	UniSTS
Cytogenetic Map	7	q21.13	UniSTS
Cytogenetic Map	1	p33	UniSTS
Cytogenetic Map	1	p35.1	UniSTS
Cytogenetic Map	9	q22.3	UniSTS
Cytogenetic Map	17	q11.2	UniSTS
Cytogenetic Map	12	q13.2	UniSTS
Cytogenetic Map	22	q13.31-q13.33	UniSTS
Cytogenetic Map	1	q24.1	UniSTS
Cytogenetic Map	7	q32.2	UniSTS
Cytogenetic Map	19	q13.43	UniSTS
Cytogenetic Map	1	q42.11	UniSTS
Cytogenetic Map	19	p13.11	UniSTS
Cytogenetic Map	12	q24.31	UniSTS
Cytogenetic Map	19	p13.1	UniSTS
Cytogenetic Map	11	q13.5	UniSTS
Cytogenetic Map	11	q24	UniSTS
Cytogenetic Map	2	q11.2-q12.1	UniSTS
Cytogenetic Map	3	q21.2	UniSTS
Cytogenetic Map	19	q13.1	UniSTS
Cytogenetic Map	19	p13	UniSTS
Cytogenetic Map	8	p11.21	UniSTS
Cytogenetic Map	17	p13.2	UniSTS
Cytogenetic Map	16	p13.3	UniSTS
Cytogenetic Map	20	q12	UniSTS
Cytogenetic Map	2	q13	UniSTS
Cytogenetic Map	5	q31.1	UniSTS
Cytogenetic Map	17	q22.2	UniSTS
Cytogenetic Map	18	q21	UniSTS
Cytogenetic Map	11	q14.2	UniSTS
Cytogenetic Map	16	q22.1	UniSTS
Cytogenetic Map	4	q34	UniSTS
Cytogenetic Map	2	p22-p21	UniSTS
Cytogenetic Map	10	q26.3	UniSTS
Cytogenetic Map	7	q22.1	UniSTS
Cytogenetic Map	11	q13.4	UniSTS
Cytogenetic Map	2	q37.1	UniSTS
Cytogenetic Map	17	q21.31	UniSTS
Cytogenetic Map	1	p36.23	UniSTS
Cytogenetic Map	7	p22.2	UniSTS
Cytogenetic Map	12	q24.13	UniSTS
Cytogenetic Map	8	p21.2	UniSTS
Cytogenetic Map	22	q13.33	UniSTS
Cytogenetic Map	14	q32.12	UniSTS
Cytogenetic Map	2	q31.1	UniSTS
Cytogenetic Map	1	p36.31	UniSTS
Cytogenetic Map	1	p32.3	UniSTS
Cytogenetic Map	X	q26.3	UniSTS
Cytogenetic Map	8	p23.1	UniSTS
Cytogenetic Map	6	q13	UniSTS
Cytogenetic Map	3	p21.31	UniSTS
Cytogenetic Map	9	p13.2	UniSTS
Cytogenetic Map	17	q25	UniSTS
Cytogenetic Map	9	q22.2	UniSTS
Cytogenetic Map	14	q32.33	UniSTS
Cytogenetic Map	1	q21.3	UniSTS
Cytogenetic Map	13	q12.11	UniSTS
Cytogenetic Map	16	p13.13	UniSTS
Cytogenetic Map	11	p15.4	UniSTS
Cytogenetic Map	7	q22	UniSTS
Cytogenetic Map	3	q21	UniSTS
Cytogenetic Map	11	q12.3	UniSTS
Cytogenetic Map	22	q13	UniSTS
Cytogenetic Map	4	p16.3	UniSTS
Cytogenetic Map	11	p15.3-p15.1	UniSTS
Cytogenetic Map	11	q13	UniSTS
Cytogenetic Map	22	q11.21	UniSTS
Cytogenetic Map	10	q22.2	UniSTS
Cytogenetic Map	17	p13.3	UniSTS
Cytogenetic Map	7	p22.3	UniSTS
Cytogenetic Map	3	p21	UniSTS
Cytogenetic Map	X	p22.3	UniSTS
Cytogenetic Map	1	q42.3	UniSTS
Cytogenetic Map	18	q11.2	UniSTS
Cytogenetic Map	6	p24.3	UniSTS
Cytogenetic Map	7	q34	UniSTS
Cytogenetic Map	16	p11.2	UniSTS
Cytogenetic Map	1	q25	UniSTS
Cytogenetic Map	15	q11.2	UniSTS
Cytogenetic Map	19	p13.12	UniSTS
Cytogenetic Map	3	q26	UniSTS
Cytogenetic Map	12	p12.1-p11.2	UniSTS
Cytogenetic Map	11	q23.1	UniSTS
Cytogenetic Map	13	q14.11	UniSTS
Cytogenetic Map	22	q13.1	UniSTS
Cytogenetic Map	7	p15.2	UniSTS
Cytogenetic Map	1	q21	UniSTS
Cytogenetic Map	10	q11.22	UniSTS
Cytogenetic Map	5	p12	UniSTS
Cytogenetic Map	6	q21	UniSTS
Cytogenetic Map	9	q21.13	UniSTS
Cytogenetic Map	5	q13.2	UniSTS
Cytogenetic Map	19	q13.2	UniSTS
Cytogenetic Map	X	q23	UniSTS
Cytogenetic Map	2	p21	UniSTS
Cytogenetic Map	22	q11.1	UniSTS
Cytogenetic Map	16	q13	UniSTS
Cytogenetic Map	16	p	UniSTS
Cytogenetic Map	11	q13.2	UniSTS
Cytogenetic Map	X	p11.3	UniSTS
Cytogenetic Map	1	q25.1	UniSTS
Cytogenetic Map	10	q23-q24	UniSTS
Cytogenetic Map	20	p13	UniSTS
Cytogenetic Map	7	q31	UniSTS
Cytogenetic Map	6	q23.3	UniSTS
Cytogenetic Map	X	p22.2	UniSTS
Cytogenetic Map	9	q32	UniSTS
Cytogenetic Map	1	q32.1	UniSTS
Cytogenetic Map	17	q25.3	UniSTS
Cytogenetic Map	20	q11.22	UniSTS
Cytogenetic Map	4	q35.1	UniSTS
Cytogenetic Map	3	q21.3	UniSTS
Cytogenetic Map	5	q12.3	UniSTS
Cytogenetic Map	6	q25.1	UniSTS
Cytogenetic Map	14	q24.1	UniSTS
Cytogenetic Map	2	q33.2	UniSTS
Cytogenetic Map	20	q13.13	UniSTS
Cytogenetic Map	14	q23.2	UniSTS
Cytogenetic Map	15	q24.1	UniSTS
Cytogenetic Map	3	q23	UniSTS
Cytogenetic Map	8	q23.1	UniSTS
Cytogenetic Map	2	q14.3	UniSTS
Cytogenetic Map	20	q13.33	UniSTS
Cytogenetic Map	21	q22.11	UniSTS
Cytogenetic Map	5	p15.1	UniSTS
Cytogenetic Map	15	q13.1	UniSTS
Cytogenetic Map	15	q26.1	UniSTS
Cytogenetic Map	7	q32.1	UniSTS
Cytogenetic Map	8	p21.3	UniSTS
Cytogenetic Map	1	p31.1	UniSTS
Cytogenetic Map	17	qter	UniSTS
Cytogenetic Map	11	q13.1	UniSTS
Cytogenetic Map	12	q22	UniSTS
Cytogenetic Map	16	q22.2	UniSTS
Cytogenetic Map	14	q32	UniSTS
Cytogenetic Map	X	p22.33	UniSTS
Cytogenetic Map	Y	p11.32	UniSTS
Cytogenetic Map	14	q24.2	UniSTS
Cytogenetic Map	3	p25.3	UniSTS
Cytogenetic Map	13	q34	UniSTS
Cytogenetic Map	10	p11.23	UniSTS
Cytogenetic Map	15	q15.2	UniSTS
Cytogenetic Map	8	p21.1	UniSTS
Cytogenetic Map	22	q12.2	UniSTS
Cytogenetic Map	15	q22.2	UniSTS
Cytogenetic Map	15	q21	UniSTS
Cytogenetic Map	6	p21.31	UniSTS
Cytogenetic Map	10	q23.1	UniSTS
Cytogenetic Map	1	p36.2	UniSTS
Cytogenetic Map	2	p16.1	UniSTS
Cytogenetic Map	22	q11.2	UniSTS
Cytogenetic Map	17	q23.3	UniSTS
Cytogenetic Map	12	q13.13	UniSTS
Cytogenetic Map	20	q12-q13.12	UniSTS
Cytogenetic Map	3	q26.33	UniSTS
Cytogenetic Map	5	q31.2-q34	UniSTS
Cytogenetic Map	5	q31.2	UniSTS
Cytogenetic Map	8	q24.3	UniSTS
Cytogenetic Map	5	q35.3	UniSTS
Cytogenetic Map	X	q13-q21	UniSTS
Cytogenetic Map	7	q11.23	UniSTS
Cytogenetic Map	1	pter-q31.3	UniSTS
Cytogenetic Map	15	q21.1	UniSTS
Cytogenetic Map	3	q13.33	UniSTS
Cytogenetic Map	X	q13.1	UniSTS
Cytogenetic Map	3	p23-p21	UniSTS
Cytogenetic Map	11	q22-q23	UniSTS
Cytogenetic Map	1	p34.1	UniSTS
Cytogenetic Map	2	q21.1	UniSTS
Cytogenetic Map	6	p21.3	UniSTS
Cytogenetic Map	7	p11.2	UniSTS
Cytogenetic Map	7	p22.1	UniSTS
Cytogenetic Map	17	q21.33	UniSTS
Cytogenetic Map	14	q32.31	UniSTS
Cytogenetic Map	10	q11.21	UniSTS
Cytogenetic Map	16	q22	UniSTS
Cytogenetic Map	2	q24	UniSTS
Cytogenetic Map	1	q23.3	UniSTS
Cytogenetic Map	3	q13.13	UniSTS
Cytogenetic Map	19	p12	UniSTS
Cytogenetic Map	16	p13.1	UniSTS
Cytogenetic Map	19	q13.11	UniSTS
Cytogenetic Map	X	p22.12	UniSTS
Cytogenetic Map	9	q21.33	UniSTS
Cytogenetic Map	5	q32	UniSTS
Cytogenetic Map	16	q11.2	UniSTS
Cytogenetic Map	10	p12.31	UniSTS
Cytogenetic Map	3	q25.33	UniSTS
Cytogenetic Map	8	q21.2	UniSTS
Cytogenetic Map	10	q26.13	UniSTS
Cytogenetic Map	10	q25.3	UniSTS
Cytogenetic Map	15	q14-q15	UniSTS
Cytogenetic Map	8	p11.2	UniSTS
Cytogenetic Map	1	p34.3	UniSTS
Cytogenetic Map	4	p15.2	UniSTS
Cytogenetic Map	17	q12	UniSTS
Cytogenetic Map	7	p15.3	UniSTS
Cytogenetic Map	7	p21.1	UniSTS
Cytogenetic Map	1	p36.32	UniSTS
Cytogenetic Map	1	p36.1-p34	UniSTS
Cytogenetic Map	4	p13	UniSTS
Cytogenetic Map	7	q31.1-q31.2	UniSTS
Cytogenetic Map	8	q22.2	UniSTS
Cytogenetic Map	15	q21.1-q21.2	UniSTS
Cytogenetic Map	16	q21	UniSTS
Cytogenetic Map	X	q12	UniSTS
Cytogenetic Map	7	q36.1	UniSTS
Cytogenetic Map	7	p14.1	UniSTS
Cytogenetic Map	6	p23	UniSTS
Cytogenetic Map	3	p11.1	UniSTS
Cytogenetic Map	15	q21.3	UniSTS
Cytogenetic Map	13	q12	UniSTS
Cytogenetic Map	12	q23.2	UniSTS
Cytogenetic Map	22	q13.2	UniSTS
Cytogenetic Map	16	q22.3	UniSTS
Cytogenetic Map	X	q21	UniSTS
Cytogenetic Map	15	q15	UniSTS
Cytogenetic Map	4	q25	UniSTS
Cytogenetic Map	3	q22.1	UniSTS
Cytogenetic Map	1	q25.2	UniSTS
Cytogenetic Map	11	q14.3	UniSTS
Cytogenetic Map	10	q21.3	UniSTS
Cytogenetic Map	14	q11.2	UniSTS
Cytogenetic Map	15	q24.2	UniSTS
Cytogenetic Map	2	p14	UniSTS
Cytogenetic Map	7	q11.1	UniSTS
Cytogenetic Map	6	p21	UniSTS
Cytogenetic Map	2	p25.1-p24.1	UniSTS
Cytogenetic Map	16	p12.2	UniSTS
Cytogenetic Map	4	q13.3	UniSTS
Cytogenetic Map	12	p11.21	UniSTS
Cytogenetic Map	18	q21.3	UniSTS
Cytogenetic Map	17	p13	UniSTS
Cytogenetic Map	8	q12	UniSTS
Cytogenetic Map	2	q35	UniSTS
Cytogenetic Map	21	q22.13	UniSTS
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	17	q24.3	UniSTS
Cytogenetic Map	1	p21	UniSTS
Cytogenetic Map	X	q24	UniSTS
Cytogenetic Map	2	q34	UniSTS
Cytogenetic Map	8	p11.23	UniSTS
Cytogenetic Map	1	p36.13	UniSTS
Cytogenetic Map	9	q34.3	UniSTS
Cytogenetic Map	11	q23.3	UniSTS
Cytogenetic Map	9	q33.3	UniSTS
Cytogenetic Map	16	p12	UniSTS
Cytogenetic Map	2	p23.3	UniSTS
Cytogenetic Map	20	q11.23	UniSTS
Cytogenetic Map	12	q15	UniSTS
Cytogenetic Map	2	q12.2	UniSTS
Cytogenetic Map	8	p12	UniSTS
Cytogenetic Map	7	q22.3	UniSTS
Cytogenetic Map	19	q13.42	UniSTS
Cytogenetic Map	4	q35	UniSTS
Cytogenetic Map	19	q13.1-q13.2	UniSTS
Cytogenetic Map	16	p13.12	UniSTS
Cytogenetic Map	9	q34.1	UniSTS
Cytogenetic Map	7	q36.2	UniSTS
Cytogenetic Map	3	p23	UniSTS
Cytogenetic Map	6	p25	UniSTS
Cytogenetic Map	9	q22.1-q22.2	UniSTS
Cytogenetic Map	3	q26.1-q26.2	UniSTS
Cytogenetic Map	5	q31-q34	UniSTS
Cytogenetic Map	9	q34	UniSTS
Cytogenetic Map	12	p13	UniSTS
Cytogenetic Map	4	q26	UniSTS
Cytogenetic Map	4	p15.3	UniSTS
Cytogenetic Map	2	q33.1	UniSTS
Cytogenetic Map	15	q15.1	UniSTS
Cytogenetic Map	1	p32-p31	UniSTS
Cytogenetic Map	7	q36.3	UniSTS
Cytogenetic Map	4	q22.1	UniSTS
Cytogenetic Map	3	q13.2	UniSTS
Cytogenetic Map	2	q33.3	UniSTS
Cytogenetic Map	8	p22	UniSTS
Cytogenetic Map	22	q11.23	UniSTS
Cytogenetic Map	19	q13.32	UniSTS
Cytogenetic Map	18	q21.32	UniSTS
Cytogenetic Map	15	q26.3	UniSTS
Cytogenetic Map	12	q14.2	UniSTS
Cytogenetic Map	2	q31.1-q31.2	UniSTS
Cytogenetic Map	12	q13.11	UniSTS
Cytogenetic Map	9	p13.3	UniSTS
Cytogenetic Map	9	q34.11	UniSTS
Cytogenetic Map	6	p12.3	UniSTS
Cytogenetic Map	6	q22.32	UniSTS
Cytogenetic Map	5	q15	UniSTS
Cytogenetic Map	3	p14.2	UniSTS
Cytogenetic Map	3	p25.1	UniSTS
Cytogenetic Map	3	q27.1	UniSTS
Cytogenetic Map	2	q36.1	UniSTS
Cytogenetic Map	2	q37	UniSTS
Cytogenetic Map	19	q13.31	UniSTS
Cytogenetic Map	4	q23	UniSTS
Cytogenetic Map	16	q24.3	UniSTS
Cytogenetic Map	15	q22.31	UniSTS
Cytogenetic Map	10	q22.1	UniSTS
Cytogenetic Map	18	q11.1	UniSTS
Cytogenetic Map	16	q23.2	UniSTS
Cytogenetic Map	12	q13	UniSTS
Cytogenetic Map	18	q21.1	UniSTS
Cytogenetic Map	12	q12-q13	UniSTS
Cytogenetic Map	9	p22.3	UniSTS
Cytogenetic Map	6	p21.2	UniSTS
Cytogenetic Map	6	p22.1	UniSTS
Cytogenetic Map	11	p15.1	UniSTS
Cytogenetic Map	19	qter	UniSTS
Cytogenetic Map	20	q13.3-qter	UniSTS
Cytogenetic Map	12	q14.1	UniSTS
Cytogenetic Map	7	p11	UniSTS
Cytogenetic Map	7	p15	UniSTS
Cytogenetic Map	1	p13.3	UniSTS
Cytogenetic Map	16	p12.3	UniSTS
Cytogenetic Map	3	q29	UniSTS
Cytogenetic Map	3	p21.3	UniSTS
Cytogenetic Map	13	q14	UniSTS
Cytogenetic Map	17	p	UniSTS
Cytogenetic Map	11	p14.1	UniSTS
Cytogenetic Map	2	p13.2	UniSTS
Cytogenetic Map	15	q25.2	UniSTS
Cytogenetic Map	10	q11.23	UniSTS
Cytogenetic Map	20	q13.12	UniSTS
Cytogenetic Map	13	q22.1	UniSTS
Cytogenetic Map	17	p13.1	UniSTS
Cytogenetic Map	14	q23.3	UniSTS
Cytogenetic Map	3	q26.2	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	2435	2788	2248	4968	1723	2349	5	622	1950	465	2268	7292	6462	52	3731	850	1738	1614	174	1


RefSeq Transcripts	NG_030343	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001363577	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001374400	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001374401	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001374402	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001374403	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001379406	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001379407	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001379408	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001379409	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_005349	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_015874	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_203283	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_203284	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011513840	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017008170	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017008171	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017008174	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047415656	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047415657	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047415658	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054349956	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054349957	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054349958	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC093637	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC097109	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC097714	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC111003	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF086058	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK056944	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK126357	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK302230	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK303244	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK311419	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL600045	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC020780	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC053531	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC053568	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC064976	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BE269143	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM472788	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM555733	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM560796	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM680668	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ216033	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CD653684	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471069	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068274	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	D14041	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC361185	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC389691	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HF583818	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	L07872	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	L07874	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	L07875	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	L07876	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	L08904	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Z36843	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000342295 ⟹ ENSP00000345206

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,319,636 - 26,431,186 (+)	Ensembl

Ensembl Acc Id:

ENST00000342320 ⟹ ENSP00000340124

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,362,436 - 26,435,131 (+)	Ensembl

Ensembl Acc Id:

ENST00000345843 ⟹ ENSP00000305815

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,319,710 - 26,431,066 (+)	Ensembl

Ensembl Acc Id:

ENST00000348160 ⟹ ENSP00000339699

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,320,807 - 26,431,136 (+)	Ensembl

Ensembl Acc Id:

ENST00000355476 ⟹ ENSP00000347659

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,321,014 - 26,434,923 (+)	Ensembl

Ensembl Acc Id:

ENST00000361572 ⟹ ENSP00000354528

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,320,563 - 26,431,007 (+)	Ensembl

Ensembl Acc Id:

ENST00000504423 ⟹ ENSP00000421804

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,344,741 - 26,431,142 (+)	Ensembl

Ensembl Acc Id:

ENST00000504907 ⟹ ENSP00000423703

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,362,436 - 26,431,156 (+)	Ensembl

Ensembl Acc Id:

ENST00000504938 ⟹ ENSP00000424459

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,362,530 - 26,420,725 (+)	Ensembl

Ensembl Acc Id:

ENST00000505727

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,430,146 - 26,431,174 (+)	Ensembl

Ensembl Acc Id:

ENST00000505958 ⟹ ENSP00000426872

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,321,365 - 26,431,009 (+)	Ensembl

Ensembl Acc Id:

ENST00000506903

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,420,570 - 26,424,994 (+)	Ensembl

Ensembl Acc Id:

ENST00000506956 ⟹ ENSP00000425750

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,319,662 - 26,415,613 (+)	Ensembl

Ensembl Acc Id:

ENST00000507561 ⟹ ENSP00000423907

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,321,602 - 26,431,183 (+)	Ensembl

Ensembl Acc Id:

ENST00000507574 ⟹ ENSP00000422617

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,322,209 - 26,424,383 (+)	Ensembl

Ensembl Acc Id:

ENST00000509158 ⟹ ENSP00000424804

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,320,975 - 26,431,140 (+)	Ensembl

Ensembl Acc Id:

ENST00000510725

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,428,613 - 26,430,195 (+)	Ensembl

Ensembl Acc Id:

ENST00000510778 ⟹ ENSP00000427170

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,321,016 - 26,430,703 (+)	Ensembl

Ensembl Acc Id:

ENST00000511401

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,321,014 - 26,415,640 (+)	Ensembl

Ensembl Acc Id:

ENST00000511451

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,362,476 - 26,420,838 (+)	Ensembl

Ensembl Acc Id:

ENST00000511546 ⟹ ENSP00000422838

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,359,691 - 26,420,553 (+)	Ensembl

Ensembl Acc Id:

ENST00000512351 ⟹ ENSP00000424789

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,163,455 - 26,415,605 (+)	Ensembl

Ensembl Acc Id:

ENST00000512671 ⟹ ENSP00000423644

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,319,662 - 26,431,181 (+)	Ensembl

Ensembl Acc Id:

ENST00000513182 ⟹ ENSP00000427344

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,321,007 - 26,415,583 (+)	Ensembl

Ensembl Acc Id:

ENST00000514380

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,320,725 - 26,430,457 (+)	Ensembl

Ensembl Acc Id:

ENST00000514656

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,362,446 - 26,368,145 (+)	Ensembl

Ensembl Acc Id:

ENST00000514675 ⟹ ENSP00000423575

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,322,870 - 26,420,563 (+)	Ensembl

Ensembl Acc Id:

ENST00000514730 ⟹ ENSP00000425061

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,322,164 - 26,420,571 (+)	Ensembl

Ensembl Acc Id:

ENST00000514807 ⟹ ENSP00000424989

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,320,787 - 26,406,263 (+)	Ensembl

Ensembl Acc Id:

ENST00000515023

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,385,917 - 26,430,883 (+)	Ensembl

Ensembl Acc Id:

ENST00000515573 ⟹ ENSP00000423406

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,343,140 - 26,424,479 (+)	Ensembl

Ensembl Acc Id:

ENST00000679469 ⟹ ENSP00000504953

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,321,228 - 26,431,045 (+)	Ensembl

Ensembl Acc Id:

ENST00000679698 ⟹ ENSP00000506331

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,321,022 - 26,431,116 (+)	Ensembl

Ensembl Acc Id:

ENST00000680140 ⟹ ENSP00000506443

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,321,014 - 26,431,168 (+)	Ensembl

Ensembl Acc Id:

ENST00000680204 ⟹ ENSP00000506010

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,362,581 - 26,430,037 (+)	Ensembl

Ensembl Acc Id:

ENST00000680210 ⟹ ENSP00000505411

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,321,011 - 26,430,432 (+)	Ensembl

Ensembl Acc Id:

ENST00000680511 ⟹ ENSP00000506628

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,321,015 - 26,430,911 (+)	Ensembl

Ensembl Acc Id:

ENST00000680928 ⟹ ENSP00000505493

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,343,172 - 26,431,178 (+)	Ensembl

Ensembl Acc Id:

ENST00000681025 ⟹ ENSP00000504979

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,321,011 - 26,431,104 (+)	Ensembl

Ensembl Acc Id:

ENST00000681093 ⟹ ENSP00000504964

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,344,437 - 26,431,134 (+)	Ensembl

Ensembl Acc Id:

ENST00000681260 ⟹ ENSP00000505479

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,343,183 - 26,431,000 (+)	Ensembl

Ensembl Acc Id:

ENST00000681264 ⟹ ENSP00000505255

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,362,521 - 26,431,007 (+)	Ensembl

Ensembl Acc Id:

ENST00000681403

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,163,530 - 26,430,432 (+)	Ensembl

Ensembl Acc Id:

ENST00000681484 ⟹ ENSP00000505636

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,321,299 - 26,431,159 (+)	Ensembl

Ensembl Acc Id:

ENST00000681506 ⟹ ENSP00000504925

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,320,961 - 26,431,066 (+)	Ensembl

Ensembl Acc Id:

ENST00000681679 ⟹ ENSP00000505870

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,321,011 - 26,431,083 (+)	Ensembl

Ensembl Acc Id:

ENST00000681799 ⟹ ENSP00000504876

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,163,458 - 26,430,432 (+)	Ensembl

Ensembl Acc Id:

ENST00000681856 ⟹ ENSP00000505922

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,321,003 - 26,430,982 (+)	Ensembl

Ensembl Acc Id:

ENST00000689192

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,343,162 - 26,431,182 (+)	Ensembl

Ensembl Acc Id:

ENST00000691085

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,321,003 - 26,431,182 (+)	Ensembl

Ensembl Acc Id:

ENST00000692303

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,321,003 - 26,431,182 (+)	Ensembl

RefSeq Acc Id:

NM_001363577 ⟹ NP_001350506

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	26,321,228 - 26,435,131 (+)	NCBI
T2T-CHM13v2.0	4	26,306,219 - 26,420,111 (+)	NCBI

Sequence:

show sequence

GCCGTGGCTCAGGCTCCAGCGCGTGAGGGCGGGCGGCGGCGGCGGCGGCGAGGCCGGCGGGTGCGGGCGTGAGTGCGGCAGGGCGCGCGGGGCCCTCGGGCGCCGTGCCTCCCGCGCGCCTCCAGCGG
GCTCTGCCTGGGGGCCCCGTGCATCTTTGTTCCTCGCGGCCGTTGTCGCCGCTTCGCCCCGCTAGTGCCCCCGGCCCCGGGCGCTTTGTCTTTCACCGCTACCCGCTGCGACTCTCTACCCCCGGCCC
TTTGTTTCGCCGCCTTGGGCGCTTTGTCCGACCCGTGGCGTCCCGCATCCCCTCTCCATCTCCTCCCCTCCGCTGTCCTTCCTCCCGTGCCCCTTTGTTGTGCCACACTCTTGTCGTTAGCCCAGTGA
CCTGCCACAGCCCGGGCACCAGATTTCTGCCTTAATTGTTCTTCCATTGTCTTTCTCCTGTGGGTCCCCTCTCACCTTTCTGTATGGTCCTGGATCACCCCCCGAGGCTTTGTCTCCCCCATCCACGG
GCTTATTCTCTCGGCACCCCCTTCCTCTCCCGTCATCGGTTGATTTATCCACAACCCACGGTGTACGTCTGCTGAACTGTCTCAGCCCCGGGGACTCCATCTGCTGCTTCTAAGTGCACACAAGACTC
TACGGAAATTTGGTGAGCGGCCTCCACCTAAACGACTTACTAGGGAAGCTATGCGAAATTATTTAAAAGAGCGAGGGGATCAAACAGTACTTATTCTTCATGCAAAAGTTGCACAGAAGTCATATGGA
AATGAAAAAAGGTTTTTTTGCCCACCTCCTTGTGTATATCTTATGGGCAGTGGATGGAAGAAAAAAAAAGAACAAATGGAACGCGATGGTTGTTCTGAACAAGAGTCTCAACCGTGTGCATTTATTGG
GATAGGAAATAGTGACCAAGAAATGCAGCAGCTAAACTTGGAAGGAAAGAACTATTGCACAGCCAAAACATTGTATATATCTGACTCAGACAAGCGAAAGCACTTCATGTTGTCTGTAAAGATGTTCT
ATGGCAACAGTGATGACATTGGTGTGTTCCTCAGCAAGCGGATAAAAGTCATCTCCAAACCTTCCAAAAAGAAGCAGTCATTGAAAAATGCTGACTTATGCATTGCCTCAGGAACAAAGGTGGCTCTG
TTTAATCGACTACGATCCCAGACAGTTAGTACCAGATACTTGCATGTAGAAGGAGGTAATTTTCATGCCAGTTCACAGCAGTGGGGAGCCTTTTTTATTCATCTCTTGGATGATGATGAATCAGAAGG
AGAAGAATTCACAGTCCGAGATGGCTACATCCATTATGGACAAACAGTCAAACTTGTGTGCTCAGTTACTGGCATGGCACTCCCAAGATTGATAATTAGGAAAGTTGATAAGCAGACCGCATTATTGG
ATGCAGATGATCCTGTGTCACAACTCCATAAATGTGCATTTTACCTTAAGGATACAGAAAGAATGTATTTGTGCCTTTCTCAAGAAAGAATAATTCAATTTCAGGCCACTCCATGTCCAAAAGAACCA
AATAAAGAGATGATAAATGATGGCGCTTCCTGGACAATCATTAGCACAGATAAGGCAGAGTATACATTTTATGAGGGAATGGGCCCTGTCCTTGCCCCAGTCACTCCTGTGCCTGTGGTAGAGAGCCT
TCAGTTGAATGGCGGTGGGGACGTAGCAATGCTTGAACTTACAGGACAGAATTTCACTCCAAATTTACGAGTGTGGTTTGGGGATGTAGAAGCTGAAACTATGTACAGGTGTGGAGAGAGTATGCTCT
GTGTCGTCCCAGACATTTCTGCATTCCGAGAAGGTTGGAGATGGGTCCGGCAACCAGTCCAGGTTCCAGTAACTTTGGTCCGAAATGATGGAATCATTTATTCCACCAGCCTTACCTTTACCTACACA
CCAGAACCAGGGCCGCGGCCACATTGCAGTGCAGCAGGAGCAATCCTTCGAGCCAATTCAAGCCAGGTGCCCCCTAACGAATCAAACACAAACAGCGAGGGAAGTTACACAAACGCCAGCACAAATTC
AACCAGTGTCACATCATCTACAGCCACAGTGGTATCCTAACTACCGTCTTTTTGCTAGGACTTAAACTGACTTGAGTGTGGCAAAAAGTTAACAAAAAAGGAGAAAAAATGAACAATCGTTTGTGGTT
TCTTGGGAAAACTTTTCATACCAGGTGATACTATTCAAAAACCCCGTTGTCTCCCTGCAAGTGCTGATTTGAAATGCAGAAGCCACAGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAATC
AAAATGTATAAATATTGGAAATCAAGTTTTTCAGCTGTTTTGTTGGTTGGTTGGTTGGTTTTTGTTTGGTTTTGTTTAAATGGGCAAGAAGTAAATAATGTGGCTGGAATACAAGTTGAACAAACTAG
AAGACACAAATCTAACATAGTTTTTATGGACCAAGGAACTTGTATATTGTATAAGCTTTAGTAAAAGGTACATTTTCACCATACCTTTTTTTATATCACGGTATTATAGTACACCTTGTTACCAAATA
GGTTGTTCTCTTCCCCACCCACCTTTGAGCTTTTGCTCTAAAATACATTCAGGTTCCAAGCCTGACCATCCTTGTTTAATCTATCATACTCTTCCAGGTTTTTTTTTTTTGGTCTAAGGCTGGAACTT
TTTTCTTTTTTTTCAGCTGAAGTCTTATGACTTTTCATGAGTCAAAATTGTTTGGATTTCAGCAAGTCAAATCTTGCAAAGGCCTGCATATTTTTTTTAAGATTATATGAAGTCTGTGCAAAAGCTTT
AAAAAAATGCCTCTGCCTTGCCTGCAATACATGCAATGTATGTTAACTTAGTCTCTCTTCTCAGACACTGTTGGTAGTTATTTCTGTGTTTTCCTTTTTTTAAAAAAAAATATGGACTTATTGTGGTT
ATCTGAGAGGTTCTAACATTCACATGCAATTTGGTGTGGCCATTTAGCTATTAATGAGTTAATGGCGCAGAACTTGTTGATATTTGAAGTGTTCTCTCCCCTTTTCCCATGACGTAAATACATAGGTG
TGTTCCAGGATTTGTTCAGGTTTTTCCCCCCTCCTAATCTTGTACATAACTTGTATTATGTGTAAGTTAAACATTTTATTTTGAACTTGGAATGTTCCCAGTGATTTCATTCAGCAGGGTATTTTCTG
CCTTGTTGGCAAGTGACAAAAAATATGGGAAGTATTTGCTACCAGTTGGTAGATGGTGCCCTTAATGGTAGAATGAGGAAAATGTCCGCAAAAGCATGTTTTATTATCTTTACTTTTTTGGGGGGTTG
GAGGGGGTAGCCTAGCCAGAACATCATTGTAATCTTAAAACATAAGATGCTTTTATTAGATGATCAACTAAAATAGCTGGAAGACAGTACTTTAGAAACAGATAGTTGTAAGATTATAAAATGCAAAT
GTAACTTATGTTTTCATTTTTTTCTCTGCCTTTTTTGTTTGTTTGTTTTCTCTTTTCCAGTACTGAGCATCTCCACAAATGTCTCCTAACTCAGAAAATGTTTCTTTTCTTTTCAGTTGAGATTTGGT
TGCATTCAGGGTTGTAGGTTGGCCTTGCTTGCTAACCCCGCCGGTTTTACCGTGCTTTCATTCCTGAACTTTGTTTATGCCTTTGTTTGGTTTCTTCGAAATTGCAGCAGACTCATTGGGCTACATTT
AGTACAGGAACCACGTGTGTAATGTTATACAACACAGTCTAGTAATACAATCATCCCTCTTAGAGTAAAAACTACCTCTAGATTGTGGTAAGCTTTTACTGTCCCATAAAACAGGAGCCACAGTACCT
TATGAATGCAAAACTGTAACTTCCTACAGTGTTTCCCTACAGAACATTGTCTTTCTGGTGTCCTGGGCTGTTTTGAAAAAGTTTCCATTAATAGACTTTTTAGAAATTATTATTAGTAGCATTTTTTT
TCCAGCTTTGCTGTCTTCATCACTCACTCTATGCTCAGACTATGCCACTGTAAATATTCTTCCTAACATCTTTAAATCGCCTTTTCCTCAGTTTTCAAGGGGAAGGTCATTTGTAAAGCACGTTAGGT
GGTTAAATCAGTTATTGCGGTTTTCTCTTACTGCAAGCCTTTTTAATCACCCCCAGGCTGCATTTTATTCTATATCGCCTTTTTTCTTCAAATCTGCTCCAATCACTCACTTCTCTCTTATAAGCTAA
TCCTGCCTCACACCTTAAATCTGTTTCAGTGATCAAGGGCAGAACTCATTGTGGCCTTATCTTTCTTTGTTGTAATTGTTCACTGTCTCTTTCTTACAGACCACTTATTTCTGAGTAGTAGTTATTCC
TCTCTATGGAGTCATGGCAGGAATCATTACACAGTGCTTTTGTTCAGAGCATGGACATGTTCCTAGTGCTGCTTTGCTTTAACGGCCACAAGTTTCCTCCACTTCCTAGGTTTGGTATTTAGTTAAGG
AATCATATTAAATTAACCAATAACAAAAGAGATACTTTTGAAGAACAAACTATTCCTTACCCATTTTTGTAGCTCAAAAATAATTTTTCAAGTTCATGACCTTATTAAAATGAACTTGTGTTTTTTTA
ACAAACATGTATGTTTTATTTTGATAGTTTCTTTCCGTAAGATAATTGAAATATTATACTGTAAACCCTTTTCTTTTCTTTTTTTGAAAAGTCCAAGAATGTACTTATACAGGCATTTTTCCCCACCT
ATTTTTGGCCATTCTCATACCACAGACTAAAGAGTGAAATGATTTGTCCATTGTAGCTTATTGTTTATCAGTAGTTCTTTTGTCAGCTGCTTACATTTTTTCTTTCATGGTTTTGTGAATCATTTTCA
GTATGTAATTTATAGGAACCTTGTCCTCTGGTTATAGTAGACTGTGTGCCCTCCTCCAGTGATGGCATTATTAGACATGCTGGTCATTTACCCTCAGAAAGACTCTCTTATTAGAATGGTGAGTGCTT
CAGTTATAGTATGTTTGAATTTTTAAAAAATTCTGTTTTAGAAATGTATCTTATGCTCTCATGACTATGCAGTTTCTAAACATACACATAGAAGCTGAGTCTCTGATCCAATATGTTTTTATTTGTTC
CATTTAATTTATCACATAGATTGGGAAGGCAAGCTAAAAGCCTTAAAAATGCCCTTTATATTTTGAGTGATTTCAGCGTTGAACACTAGTATACTATCTAAATTTGCTGCTCACTTTCTTTAAACTGT
GGCAATTAAAGGCATGTTTATACATGACTTAATCGTGAAATGTTTGTCACTCTTACTGCACAGACTTATCTGCAATCATAACTGGTTAGTTTTTTTGTTTTGTTTTGTTTTATTGTTTTTAATGAAAC
TGGTACCATCTGTGCTTTCACAAAAAACTTCCAATGCCATTTTTGAGAACTAACCTAACTAGTCATGCTAACCAGAAAATCCACTGGGGAGGAGGTTCCTTTTGAAACAAAATGCTGTTCAGTTAGTA
ACCAAGTTACTTTGATTGCAAAAGCAGCTGTGTTTCTGATAAGTACTGAACAAATGTGTGTAATTTTCTGTGCCAGACTTATGACTTTGTTTTCAAGCACTGTAATGTGGGATGGATGGTTAGAAACA
ATAATATATTAGGGTTTCTGTTTAACCCTTTCAGGACTGAACTGTATCTCCTTTTGTTAATTTTCCCCTGTGTTGTGATAAATGTTTGCCAGCATTCAGTACTGTGTTGGTCCAGATGTAGGTTTATA
TGCTCATTTTTAGCTTATTTCTTGTACCTTGCAGCATGCTCTACGCATTCAGTCCTTAAGGGGTTTATTTTACAAACTGTGCGCCTGTAAGGTTTATTAGCAATAAGATAGAAAATTGAGCAAGTTTA
TACCATAATTTTGTAGAAAAAAAGAATCTGCTCAGTTCCATATTTCATCCGTGAAAAACTTGCAATACGAGCAGTTTCAAGGAATAAATAAAAAGGAAATGTAAACCATTGTAAAAGTCTTCTGTCGA
ATGTGCCTGATGCATGTATTATCGTCTTTTATTTCAGAATACTTCATAAAGATAAAATTAAATTCTATATTATAGTTGGTGTATTTACAATCTTACCATGTACATCACATCAAAGTGATAGCTCTACT
AATTTAATTTCCTTGTCAATGTTTTTAACTATATAGTGCTTTAAAGAGATTTTTTTTCCCTGTGTAAA

hide sequence

RefSeq Acc Id:

NM_001374400 ⟹ NP_001361329

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	26,319,746 - 26,435,131 (+)	NCBI
T2T-CHM13v2.0	4	26,304,737 - 26,420,111 (+)	NCBI

Sequence:

show sequence

GCCAATCCTGCAGCGCCTTCAACAGTCTCCACGTACGTCCCTCAAAGCGCGTCCTAAAACCCGGATAACCGGAGCGCTCCCCATGGACCACACGGAGGGCTCGCCCGCGGAGGAGCCGCCTGCGCATG
CTCCATCGCCTGGGAAATTTGGTGAGCGGCCTCCACCTAAACGACTTACTAGGGAAGCTATGCGAAATTATTTAAAAGAGCGAGGGGATCAAACAGTACTTATTCTTCATGCAAAAGTTGCACAGAAG
TCATATGGAAATGAAAAAAGGTTTTTTTGCCCACCTCCTTGTGTATATCTTATGGGCAGTGGATGGAAGAAAAAAAAAGAACAAATGGAACGCGATGGTTGTTCTGAACAAGAGTCTCAACCGTGTGC
ATTTATTGGGATAGGAAATAGTGACCAAGAAATGCAGCAGCTAAACTTGGAAGGAAAGAACTATTGCACAGCCAAAACATTGTATATATCTGACTCAGACAAGCGAAAGCACTTCATGTTGTCTGTAA
AGATGTTCTATGGCAACAGTGATGACATTGGTGTGTTCCTCAGCAAGCGGATAAAAGTCATCTCCAAACCTTCCAAAAAGAAGCAGTCATTGAAAAATGCTGACTTATGCATTGCCTCAGGAACAAAG
GTGGCTCTGTTTAATCGACTACGATCCCAGACAGTTAGTACCAGATACTTGCATGTAGAAGGAGGTAATTTTCATGCCAGTTCACAGCAGTGGGGAGCCTTTTTTATTCATCTCTTGGATGATGATGA
ATCAGAAGGAGAAGAATTCACAGTCCGAGATGGCTACATCCATTATGGACAAACAGTCAAACTTGTGTGCTCAGTTACTGGCATGGCACTCCCAAGATTGATAATTAGGAAAGTTGATAAGCAGACCG
CATTATTGGATGCAGATGATCCTGTGTCACAACTCCATAAATGTGCATTTTACCTTAAGGATACAGAAAGAATGTATTTGTGCCTTTCTCAAGAAAGAATAATTCAATTTCAGGCCACTCCATGTCCA
AAAGAACCAAATAAAGAGATGATAAATGATGGCGCTTCCTGGACAATCATTAGCACAGATAAGGCAGAGTATACATTTTATGAGGGAATGGGCCCTGTCCTTGCCCCAGTCACTCCTGTGCCTGTGGT
AGAGAGCCTTCAGTTGAATGGCGGTGGGGACGTAGCAATGCTTGAACTTACAGGACAGAATTTCACTCCAAATTTACGAGTGTGGTTTGGGGATGTAGAAGCTGAAACTATGTACAGGTGTGGAGAGA
GTATGCTCTGTGTCGTCCCAGACATTTCTGCATTCCGAGAAGGTTGGAGATGGGTCCGGCAACCAGTCCAGGTTCCAGTAACTTTGGTCCGAAATGATGGAATCATTTATTCCACCAGCCTTACCTTT
ACCTACACACCAGAACCAGGGCCGCGGCCACATTGCAGTGCAGCAGGAGCAATCCTTCGAGCCAATTCAAGCCAGGTGCCCCCTAACGAATCAAACACAAACAGCGAGGGAAGTTACACAAACGCCAG
CACAAATTCAACCAGTGTCACATCATCTACAGCCACAGTGGTATCCTAACTACCGTCTTTTTGCTAGGACTTAAACTGACTTGAGTGTGGCAAAAAGTTAACAAAAAAGGAGAAAAAATGAACAATCG
TTTGTGGTTTCTTGGGAAAACTTTTCATACCAGGTGATACTATTCAAAAACCCCGTTGTCTCCCTGCAAGTGCTGATTTGAAATGCAGAAGCCACAGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGAA
AAAAAAATCAAAATGTATAAATATTGGAAATCAAGTTTTTCAGCTGTTTTGTTGGTTGGTTGGTTGGTTTTTGTTTGGTTTTGTTTAAATGGGCAAGAAGTAAATAATGTGGCTGGAATACAAGTTGA
ACAAACTAGAAGACACAAATCTAACATAGTTTTTATGGACCAAGGAACTTGTATATTGTATAAGCTTTAGTAAAAGGTACATTTTCACCATACCTTTTTTTATATCACGGTATTATAGTACACCTTGT
TACCAAATAGGTTGTTCTCTTCCCCACCCACCTTTGAGCTTTTGCTCTAAAATACATTCAGGTTCCAAGCCTGACCATCCTTGTTTAATCTATCATACTCTTCCAGGTTTTTTTTTTTTGGTCTAAGG
CTGGAACTTTTTTCTTTTTTTTCAGCTGAAGTCTTATGACTTTTCATGAGTCAAAATTGTTTGGATTTCAGCAAGTCAAATCTTGCAAAGGCCTGCATATTTTTTTTAAGATTATATGAAGTCTGTGC
AAAAGCTTTAAAAAAATGCCTCTGCCTTGCCTGCAATACATGCAATGTATGTTAACTTAGTCTCTCTTCTCAGACACTGTTGGTAGTTATTTCTGTGTTTTCCTTTTTTTAAAAAAAAATATGGACTT
ATTGTGGTTATCTGAGAGGTTCTAACATTCACATGCAATTTGGTGTGGCCATTTAGCTATTAATGAGTTAATGGCGCAGAACTTGTTGATATTTGAAGTGTTCTCTCCCCTTTTCCCATGACGTAAAT
ACATAGGTGTGTTCCAGGATTTGTTCAGGTTTTTCCCCCCTCCTAATCTTGTACATAACTTGTATTATGTGTAAGTTAAACATTTTATTTTGAACTTGGAATGTTCCCAGTGATTTCATTCAGCAGGG
TATTTTCTGCCTTGTTGGCAAGTGACAAAAAATATGGGAAGTATTTGCTACCAGTTGGTAGATGGTGCCCTTAATGGTAGAATGAGGAAAATGTCCGCAAAAGCATGTTTTATTATCTTTACTTTTTT
GGGGGGTTGGAGGGGGTAGCCTAGCCAGAACATCATTGTAATCTTAAAACATAAGATGCTTTTATTAGATGATCAACTAAAATAGCTGGAAGACAGTACTTTAGAAACAGATAGTTGTAAGATTATAA
AATGCAAATGTAACTTATGTTTTCATTTTTTTCTCTGCCTTTTTTGTTTGTTTGTTTTCTCTTTTCCAGTACTGAGCATCTCCACAAATGTCTCCTAACTCAGAAAATGTTTCTTTTCTTTTCAGTTG
AGATTTGGTTGCATTCAGGGTTGTAGGTTGGCCTTGCTTGCTAACCCCGCCGGTTTTACCGTGCTTTCATTCCTGAACTTTGTTTATGCCTTTGTTTGGTTTCTTCGAAATTGCAGCAGACTCATTGG
GCTACATTTAGTACAGGAACCACGTGTGTAATGTTATACAACACAGTCTAGTAATACAATCATCCCTCTTAGAGTAAAAACTACCTCTAGATTGTGGTAAGCTTTTACTGTCCCATAAAACAGGAGCC
ACAGTACCTTATGAATGCAAAACTGTAACTTCCTACAGTGTTTCCCTACAGAACATTGTCTTTCTGGTGTCCTGGGCTGTTTTGAAAAAGTTTCCATTAATAGACTTTTTAGAAATTATTATTAGTAG
CATTTTTTTTCCAGCTTTGCTGTCTTCATCACTCACTCTATGCTCAGACTATGCCACTGTAAATATTCTTCCTAACATCTTTAAATCGCCTTTTCCTCAGTTTTCAAGGGGAAGGTCATTTGTAAAGC
ACGTTAGGTGGTTAAATCAGTTATTGCGGTTTTCTCTTACTGCAAGCCTTTTTAATCACCCCCAGGCTGCATTTTATTCTATATCGCCTTTTTTCTTCAAATCTGCTCCAATCACTCACTTCTCTCTT
ATAAGCTAATCCTGCCTCACACCTTAAATCTGTTTCAGTGATCAAGGGCAGAACTCATTGTGGCCTTATCTTTCTTTGTTGTAATTGTTCACTGTCTCTTTCTTACAGACCACTTATTTCTGAGTAGT
AGTTATTCCTCTCTATGGAGTCATGGCAGGAATCATTACACAGTGCTTTTGTTCAGAGCATGGACATGTTCCTAGTGCTGCTTTGCTTTAACGGCCACAAGTTTCCTCCACTTCCTAGGTTTGGTATT
TAGTTAAGGAATCATATTAAATTAACCAATAACAAAAGAGATACTTTTGAAGAACAAACTATTCCTTACCCATTTTTGTAGCTCAAAAATAATTTTTCAAGTTCATGACCTTATTAAAATGAACTTGT
GTTTTTTTAACAAACATGTATGTTTTATTTTGATAGTTTCTTTCCGTAAGATAATTGAAATATTATACTGTAAACCCTTTTCTTTTCTTTTTTTGAAAAGTCCAAGAATGTACTTATACAGGCATTTT
TCCCCACCTATTTTTGGCCATTCTCATACCACAGACTAAAGAGTGAAATGATTTGTCCATTGTAGCTTATTGTTTATCAGTAGTTCTTTTGTCAGCTGCTTACATTTTTTCTTTCATGGTTTTGTGAA
TCATTTTCAGTATGTAATTTATAGGAACCTTGTCCTCTGGTTATAGTAGACTGTGTGCCCTCCTCCAGTGATGGCATTATTAGACATGCTGGTCATTTACCCTCAGAAAGACTCTCTTATTAGAATGG
TGAGTGCTTCAGTTATAGTATGTTTGAATTTTTAAAAAATTCTGTTTTAGAAATGTATCTTATGCTCTCATGACTATGCAGTTTCTAAACATACACATAGAAGCTGAGTCTCTGATCCAATATGTTTT
TATTTGTTCCATTTAATTTATCACATAGATTGGGAAGGCAAGCTAAAAGCCTTAAAAATGCCCTTTATATTTTGAGTGATTTCAGCGTTGAACACTAGTATACTATCTAAATTTGCTGCTCACTTTCT
TTAAACTGTGGCAATTAAAGGCATGTTTATACATGACTTAATCGTGAAATGTTTGTCACTCTTACTGCACAGACTTATCTGCAATCATAACTGGTTAGTTTTTTTGTTTTGTTTTGTTTTATTGTTTT
TAATGAAACTGGTACCATCTGTGCTTTCACAAAAAACTTCCAATGCCATTTTTGAGAACTAACCTAACTAGTCATGCTAACCAGAAAATCCACTGGGGAGGAGGTTCCTTTTGAAACAAAATGCTGTT
CAGTTAGTAACCAAGTTACTTTGATTGCAAAAGCAGCTGTGTTTCTGATAAGTACTGAACAAATGTGTGTAATTTTCTGTGCCAGACTTATGACTTTGTTTTCAAGCACTGTAATGTGGGATGGATGG
TTAGAAACAATAATATATTAGGGTTTCTGTTTAACCCTTTCAGGACTGAACTGTATCTCCTTTTGTTAATTTTCCCCTGTGTTGTGATAAATGTTTGCCAGCATTCAGTACTGTGTTGGTCCAGATGT
AGGTTTATATGCTCATTTTTAGCTTATTTCTTGTACCTTGCAGCATGCTCTACGCATTCAGTCCTTAAGGGGTTTATTTTACAAACTGTGCGCCTGTAAGGTTTATTAGCAATAAGATAGAAAATTGA
GCAAGTTTATACCATAATTTTGTAGAAAAAAAGAATCTGCTCAGTTCCATATTTCATCCGTGAAAAACTTGCAATACGAGCAGTTTCAAGGAATAAATAAAAAGGAAATGTAAACCATTGTAAAAGTC
TTCTGTCGAATGTGCCTGATGCATGTATTATCGTCTTTTATTTCAGAATACTTCATAAAGATAAAATTAAATTCTATATTATAGTTGGTGTATTTACAATCTTACCATGTACATCACATCAAAGTGAT
AGCTCTACTAATTTAATTTCCTTGTCAATGTTTTTAACTATATAGTGCTTTAAAGAGATTTTTTTTCCCTGTGTAAA

hide sequence

RefSeq Acc Id:

NM_001374401 ⟹ NP_001361330

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	26,163,458 - 26,435,131 (+)	NCBI
T2T-CHM13v2.0	4	26,145,652 - 26,420,111 (+)	NCBI

Sequence:

show sequence

ATTCTGACATTTTTACTTCCTTTGTTGCCAGGCAAAGTGGCCACCAGATTGGGTGGAAGGGGCTCTTTCTACGGCATTTCATGACTGAGCCTCCAAGAACAACCTGTATTGAGTTTCTCTTTGAGATG
ATTGGACTGCTCTATCCAGCATCATTGAGTCATTGAAATTATGAGACTATCATTCAAATGGAAGCATTATAGTTCTTCGGAACCATTATGATCTCAAAACGAAAGGAGAATGATACAGATACACTGGC
TGAGGTGTTTTGAGGTGCATCGAAGTGTTCCAAGCTGTGACTTACCTTAACATGTTCTTGAAGTACCATGGCGTGGATTAAAAGGAAATTTGGTGAGCGGCCTCCACCTAAACGACTTACTAGGGAAG
CTATGCGAAATTATTTAAAAGAGCGAGGGGATCAAACAGTACTTATTCTTCATGCAAAAGTTGCACAGAAGTCATATGGAAATGAAAAAAGGTTTTTTTGCCCACCTCCTTGTGTATATCTTATGGGC
AGTGGATGGAAGAAAAAAAAAGAACAAATGGAACGCGATGGTTGTTCTGAACAAGAGTCTCAACCGTGTGCATTTATTGGGATAGGAAATAGTGACCAAGAAATGCAGCAGCTAAACTTGGAAGGAAA
GAACTATTGCACAGCCAAAACATTGTATATATCTGACTCAGACAAGCGAAAGCACTTCATGTTGTCTGTAAAGATGTTCTATGGCAACAGTGATGACATTGGTGTGTTCCTCAGCAAGCGGATAAAAG
TCATCTCCAAACCTTCCAAAAAGAAGCAGTCATTGAAAAATGCTGACTTATGCATTGCCTCAGGAACAAAGGTGGCTCTGTTTAATCGACTACGATCCCAGACAGTTAGTACCAGATACTTGCATGTA
GAAGGAGGTAATTTTCATGCCAGTTCACAGCAGTGGGGAGCCTTTTTTATTCATCTCTTGGATGATGATGAATCAGAAGGAGAAGAATTCACAGTCCGAGATGGCTACATCCATTATGGACAAACAGT
CAAACTTGTGTGCTCAGTTACTGGCATGGCACTCCCAAGATTGATAATTAGGAAAGTTGATAAGCAGACCGCATTATTGGATGCAGATGATCCTGTGTCACAACTCCATAAATGTGCATTTTACCTTA
AGGATACAGAAAGAATGTATTTGTGCCTTTCTCAAGAAAGAATAATTCAATTTCAGGCCACTCCATGTCCAAAAGAACCAAATAAAGAGATGATAAATGATGGCGCTTCCTGGACAATCATTAGCACA
GATAAGGCAGAGTATACATTTTATGAGGGAATGGGCCCTGTCCTTGCCCCAGTCACTCCTGTGCCTGTGGTAGAGAGCCTTCAGTTGAATGGCGGTGGGGACGTAGCAATGCTTGAACTTACAGGACA
GAATTTCACTCCAAATTTACGAGTGTGGTTTGGGGATGTAGAAGCTGAAACTATGTACAGGTGTGGAGAGAGTATGCTCTGTGTCGTCCCAGACATTTCTGCATTCCGAGAAGGTTGGAGATGGGTCC
GGCAACCAGTCCAGGTTCCAGTAACTTTGGTCCGAAATGATGGAATCATTTATTCCACCAGCCTTACCTTTACCTACACACCAGAACCAGGGCCGCGGCCACATTGCAGTGCAGCAGGAGCAATCCTT
CGAGCCAATTCAAGCCAGGTGCCCCCTAACGAATCAAACACAAACAGCGAGGGAAGTTACACAAACGCCAGCACAAATTCAACCAGTGTCACATCATCTACAGCCACAGTGGTATCCTAACTACCGTC
TTTTTGCTAGGACTTAAACTGACTTGAGTGTGGCAAAAAGTTAACAAAAAAGGAGAAAAAATGAACAATCGTTTGTGGTTTCTTGGGAAAACTTTTCATACCAGGTGATACTATTCAAAAACCCCGTT
GTCTCCCTGCAAGTGCTGATTTGAAATGCAGAAGCCACAGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAATCAAAATGTATAAATATTGGAAATCAAGTTTTTCAGCTGTTTTGTTGGTT
GGTTGGTTGGTTTTTGTTTGGTTTTGTTTAAATGGGCAAGAAGTAAATAATGTGGCTGGAATACAAGTTGAACAAACTAGAAGACACAAATCTAACATAGTTTTTATGGACCAAGGAACTTGTATATT
GTATAAGCTTTAGTAAAAGGTACATTTTCACCATACCTTTTTTTATATCACGGTATTATAGTACACCTTGTTACCAAATAGGTTGTTCTCTTCCCCACCCACCTTTGAGCTTTTGCTCTAAAATACAT
TCAGGTTCCAAGCCTGACCATCCTTGTTTAATCTATCATACTCTTCCAGGTTTTTTTTTTTTGGTCTAAGGCTGGAACTTTTTTCTTTTTTTTCAGCTGAAGTCTTATGACTTTTCATGAGTCAAAAT
TGTTTGGATTTCAGCAAGTCAAATCTTGCAAAGGCCTGCATATTTTTTTTAAGATTATATGAAGTCTGTGCAAAAGCTTTAAAAAAATGCCTCTGCCTTGCCTGCAATACATGCAATGTATGTTAACT
TAGTCTCTCTTCTCAGACACTGTTGGTAGTTATTTCTGTGTTTTCCTTTTTTTAAAAAAAAATATGGACTTATTGTGGTTATCTGAGAGGTTCTAACATTCACATGCAATTTGGTGTGGCCATTTAGC
TATTAATGAGTTAATGGCGCAGAACTTGTTGATATTTGAAGTGTTCTCTCCCCTTTTCCCATGACGTAAATACATAGGTGTGTTCCAGGATTTGTTCAGGTTTTTCCCCCCTCCTAATCTTGTACATA
ACTTGTATTATGTGTAAGTTAAACATTTTATTTTGAACTTGGAATGTTCCCAGTGATTTCATTCAGCAGGGTATTTTCTGCCTTGTTGGCAAGTGACAAAAAATATGGGAAGTATTTGCTACCAGTTG
GTAGATGGTGCCCTTAATGGTAGAATGAGGAAAATGTCCGCAAAAGCATGTTTTATTATCTTTACTTTTTTGGGGGGTTGGAGGGGGTAGCCTAGCCAGAACATCATTGTAATCTTAAAACATAAGAT
GCTTTTATTAGATGATCAACTAAAATAGCTGGAAGACAGTACTTTAGAAACAGATAGTTGTAAGATTATAAAATGCAAATGTAACTTATGTTTTCATTTTTTTCTCTGCCTTTTTTGTTTGTTTGTTT
TCTCTTTTCCAGTACTGAGCATCTCCACAAATGTCTCCTAACTCAGAAAATGTTTCTTTTCTTTTCAGTTGAGATTTGGTTGCATTCAGGGTTGTAGGTTGGCCTTGCTTGCTAACCCCGCCGGTTTT
ACCGTGCTTTCATTCCTGAACTTTGTTTATGCCTTTGTTTGGTTTCTTCGAAATTGCAGCAGACTCATTGGGCTACATTTAGTACAGGAACCACGTGTGTAATGTTATACAACACAGTCTAGTAATAC
AATCATCCCTCTTAGAGTAAAAACTACCTCTAGATTGTGGTAAGCTTTTACTGTCCCATAAAACAGGAGCCACAGTACCTTATGAATGCAAAACTGTAACTTCCTACAGTGTTTCCCTACAGAACATT
GTCTTTCTGGTGTCCTGGGCTGTTTTGAAAAAGTTTCCATTAATAGACTTTTTAGAAATTATTATTAGTAGCATTTTTTTTCCAGCTTTGCTGTCTTCATCACTCACTCTATGCTCAGACTATGCCAC
TGTAAATATTCTTCCTAACATCTTTAAATCGCCTTTTCCTCAGTTTTCAAGGGGAAGGTCATTTGTAAAGCACGTTAGGTGGTTAAATCAGTTATTGCGGTTTTCTCTTACTGCAAGCCTTTTTAATC
ACCCCCAGGCTGCATTTTATTCTATATCGCCTTTTTTCTTCAAATCTGCTCCAATCACTCACTTCTCTCTTATAAGCTAATCCTGCCTCACACCTTAAATCTGTTTCAGTGATCAAGGGCAGAACTCA
TTGTGGCCTTATCTTTCTTTGTTGTAATTGTTCACTGTCTCTTTCTTACAGACCACTTATTTCTGAGTAGTAGTTATTCCTCTCTATGGAGTCATGGCAGGAATCATTACACAGTGCTTTTGTTCAGA
GCATGGACATGTTCCTAGTGCTGCTTTGCTTTAACGGCCACAAGTTTCCTCCACTTCCTAGGTTTGGTATTTAGTTAAGGAATCATATTAAATTAACCAATAACAAAAGAGATACTTTTGAAGAACAA
ACTATTCCTTACCCATTTTTGTAGCTCAAAAATAATTTTTCAAGTTCATGACCTTATTAAAATGAACTTGTGTTTTTTTAACAAACATGTATGTTTTATTTTGATAGTTTCTTTCCGTAAGATAATTG
AAATATTATACTGTAAACCCTTTTCTTTTCTTTTTTTGAAAAGTCCAAGAATGTACTTATACAGGCATTTTTCCCCACCTATTTTTGGCCATTCTCATACCACAGACTAAAGAGTGAAATGATTTGTC
CATTGTAGCTTATTGTTTATCAGTAGTTCTTTTGTCAGCTGCTTACATTTTTTCTTTCATGGTTTTGTGAATCATTTTCAGTATGTAATTTATAGGAACCTTGTCCTCTGGTTATAGTAGACTGTGTG
CCCTCCTCCAGTGATGGCATTATTAGACATGCTGGTCATTTACCCTCAGAAAGACTCTCTTATTAGAATGGTGAGTGCTTCAGTTATAGTATGTTTGAATTTTTAAAAAATTCTGTTTTAGAAATGTA
TCTTATGCTCTCATGACTATGCAGTTTCTAAACATACACATAGAAGCTGAGTCTCTGATCCAATATGTTTTTATTTGTTCCATTTAATTTATCACATAGATTGGGAAGGCAAGCTAAAAGCCTTAAAA
ATGCCCTTTATATTTTGAGTGATTTCAGCGTTGAACACTAGTATACTATCTAAATTTGCTGCTCACTTTCTTTAAACTGTGGCAATTAAAGGCATGTTTATACATGACTTAATCGTGAAATGTTTGTC
ACTCTTACTGCACAGACTTATCTGCAATCATAACTGGTTAGTTTTTTTGTTTTGTTTTGTTTTATTGTTTTTAATGAAACTGGTACCATCTGTGCTTTCACAAAAAACTTCCAATGCCATTTTTGAGA
ACTAACCTAACTAGTCATGCTAACCAGAAAATCCACTGGGGAGGAGGTTCCTTTTGAAACAAAATGCTGTTCAGTTAGTAACCAAGTTACTTTGATTGCAAAAGCAGCTGTGTTTCTGATAAGTACTG
AACAAATGTGTGTAATTTTCTGTGCCAGACTTATGACTTTGTTTTCAAGCACTGTAATGTGGGATGGATGGTTAGAAACAATAATATATTAGGGTTTCTGTTTAACCCTTTCAGGACTGAACTGTATC
TCCTTTTGTTAATTTTCCCCTGTGTTGTGATAAATGTTTGCCAGCATTCAGTACTGTGTTGGTCCAGATGTAGGTTTATATGCTCATTTTTAGCTTATTTCTTGTACCTTGCAGCATGCTCTACGCAT
TCAGTCCTTAAGGGGTTTATTTTACAAACTGTGCGCCTGTAAGGTTTATTAGCAATAAGATAGAAAATTGAGCAAGTTTATACCATAATTTTGTAGAAAAAAAGAATCTGCTCAGTTCCATATTTCAT
CCGTGAAAAACTTGCAATACGAGCAGTTTCAAGGAATAAATAAAAAGGAAATGTAAACCATTGTAAAAGTCTTCTGTCGAATGTGCCTGATGCATGTATTATCGTCTTTTATTTCAGAATACTTCATA
AAGATAAAATTAAATTCTATATTATAGTTGGTGTATTTACAATCTTACCATGTACATCACATCAAAGTGATAGCTCTACTAATTTAATTTCCTTGTCAATGTTTTTAACTATATAGTGCTTTAAAGAG
ATTTTTTTTCCCTGTGTAAA

hide sequence

RefSeq Acc Id:

NM_001374402 ⟹ NP_001361331

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	26,321,228 - 26,435,131 (+)	NCBI
T2T-CHM13v2.0	4	26,306,219 - 26,420,111 (+)	NCBI

Sequence:

show sequence

GCCGTGGCTCAGGCTCCAGCGCGTGAGGGCGGGCGGCGGCGGCGGCGGCGAGGCCGGCGGTCAT
TGAAATTATGAGACTATCATTCAAATGGAAGCATTATAGTTCTTCGGAACCATTATGATCTCAAAACGAAAGGAGAATGATACAGATACACTGGCTGAGGTGTTTTGAGGTGCATCGAAGTGTTCCAA
GCTGTGACTTACCTTAACATGTTCTTGAAGTACCATGGCGTGGATTAAAAGGAAATTTGGTGAGCGGCCTCCACCTAAACGACTTACTAGGGAAGCTATGCGAAATTATTTAAAAGAGCGAGGGGATC
AAACAGTACTTATTCTTCATGCAAAAGTTGCACAGAAGTCATATGGAAATGAAAAAAGGTTTTTTTGCCCACCTCCTTGTGTATATCTTATGGGCAGTGGATGGAAGAAAAAAAAAGAACAAATGGAA
CGCGATGGTTGTTCTGAACAAGAGTCTCAACCGTGTGCATTTATTGGGATAGGAAATAGTGACCAAGAAATGCAGCAGCTAAACTTGGAAGGAAAGAACTATTGCACAGCCAAAACATTGTATATATC
TGACTCAGACAAGCGAAAGCACTTCATGTTGTCTGTAAAGATGTTCTATGGCAACAGTGATGACATTGGTGTGTTCCTCAGCAAGCGGATAAAAGTCATCTCCAAACCTTCCAAAAAGAAGCAGTCAT
TGAAAAATGCTGACTTATGCATTGCCTCAGGAACAAAGGTGGCTCTGTTTAATCGACTACGATCCCAGACAGTTAGTACCAGATACTTGCATGTAGAAGGAGGTAATTTTCATGCCAGTTCACAGCAG
TGGGGAGCCTTTTTTATTCATCTCTTGGATGATGATGAATCAGAAGGAGAAGAATTCACAGTCCGAGATGGCTACATCCATTATGGACAAACAGTCAAACTTGTGTGCTCAGTTACTGGCATGGCACT
CCCAAGATTGATAATTAGGAAAGTTGATAAGCAGACCGCATTATTGGATGCAGATGATCCTGTGTCACAACTCCATAAATGTGCATTTTACCTTAAGGATACAGAAAGAATGTATTTGTGCCTTTCTC
AAGAAAGAATAATTCAATTTCAGGCCACTCCATGTCCAAAAGAACCAAATAAAGAGATGATAAATGATGGCGCTTCCTGGACAATCATTAGCACAGATAAGGCAGAGTATACATTTTATGAGGGAATG
GGCCCTGTCCTTGCCCCAGTCACTCCTGTGCCTGTGGTAGAGAGCCTTCAGTTGAATGGCGGTGGGGACGTAGCAATGCTTGAACTTACAGGACAGAATTTCACTCCAAATTTACGAGTGTGGTTTGG
GGATGTAGAAGCTGAAACTATGTACAGGTGTGGAGAGAGTATGCTCTGTGTCGTCCCAGACATTTCTGCATTCCGAGAAGGTTGGAGATGGGTCCGGCAACCAGTCCAGGTTCCAGTAACTTTGGTCC
GAAATGATGGAATCATTTATTCCACCAGCCTTACCTTTACCTACACACCAGAACCAGGGCCGCGGCCACATTGCAGTGCAGCAGGAGCAATCCTTCGAGCCAATTCAAGCCAGGTGCCCCCTAACGAA
TCAAACACAAACAGCGAGGGAAGTTACACAAACGCCAGCACAAATTCAACCAGTGTCACATCATCTACAGCCACAGTGGTATCCTAACTACCGTCTTTTTGCTAGGACTTAAACTGACTTGAGTGTGG
CAAAAAGTTAACAAAAAAGGAGAAAAAATGAACAATCGTTTGTGGTTTCTTGGGAAAACTTTTCATACCAGGTGATACTATTCAAAAACCCCGTTGTCTCCCTGCAAGTGCTGATTTGAAATGCAGAA
GCCACAGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAATCAAAATGTATAAATATTGGAAATCAAGTTTTTCAGCTGTTTTGTTGGTTGGTTGGTTGGTTTTTGTTTGGTTTTGTTTAAAT
GGGCAAGAAGTAAATAATGTGGCTGGAATACAAGTTGAACAAACTAGAAGACACAAATCTAACATAGTTTTTATGGACCAAGGAACTTGTATATTGTATAAGCTTTAGTAAAAGGTACATTTTCACCA
TACCTTTTTTTATATCACGGTATTATAGTACACCTTGTTACCAAATAGGTTGTTCTCTTCCCCACCCACCTTTGAGCTTTTGCTCTAAAATACATTCAGGTTCCAAGCCTGACCATCCTTGTTTAATC
TATCATACTCTTCCAGGTTTTTTTTTTTTGGTCTAAGGCTGGAACTTTTTTCTTTTTTTTCAGCTGAAGTCTTATGACTTTTCATGAGTCAAAATTGTTTGGATTTCAGCAAGTCAAATCTTGCAAAG
GCCTGCATATTTTTTTTAAGATTATATGAAGTCTGTGCAAAAGCTTTAAAAAAATGCCTCTGCCTTGCCTGCAATACATGCAATGTATGTTAACTTAGTCTCTCTTCTCAGACACTGTTGGTAGTTAT
TTCTGTGTTTTCCTTTTTTTAAAAAAAAATATGGACTTATTGTGGTTATCTGAGAGGTTCTAACATTCACATGCAATTTGGTGTGGCCATTTAGCTATTAATGAGTTAATGGCGCAGAACTTGTTGAT
ATTTGAAGTGTTCTCTCCCCTTTTCCCATGACGTAAATACATAGGTGTGTTCCAGGATTTGTTCAGGTTTTTCCCCCCTCCTAATCTTGTACATAACTTGTATTATGTGTAAGTTAAACATTTTATTT
TGAACTTGGAATGTTCCCAGTGATTTCATTCAGCAGGGTATTTTCTGCCTTGTTGGCAAGTGACAAAAAATATGGGAAGTATTTGCTACCAGTTGGTAGATGGTGCCCTTAATGGTAGAATGAGGAAA
ATGTCCGCAAAAGCATGTTTTATTATCTTTACTTTTTTGGGGGGTTGGAGGGGGTAGCCTAGCCAGAACATCATTGTAATCTTAAAACATAAGATGCTTTTATTAGATGATCAACTAAAATAGCTGGA
AGACAGTACTTTAGAAACAGATAGTTGTAAGATTATAAAATGCAAATGTAACTTATGTTTTCATTTTTTTCTCTGCCTTTTTTGTTTGTTTGTTTTCTCTTTTCCAGTACTGAGCATCTCCACAAATG
TCTCCTAACTCAGAAAATGTTTCTTTTCTTTTCAGTTGAGATTTGGTTGCATTCAGGGTTGTAGGTTGGCCTTGCTTGCTAACCCCGCCGGTTTTACCGTGCTTTCATTCCTGAACTTTGTTTATGCC
TTTGTTTGGTTTCTTCGAAATTGCAGCAGACTCATTGGGCTACATTTAGTACAGGAACCACGTGTGTAATGTTATACAACACAGTCTAGTAATACAATCATCCCTCTTAGAGTAAAAACTACCTCTAG
ATTGTGGTAAGCTTTTACTGTCCCATAAAACAGGAGCCACAGTACCTTATGAATGCAAAACTGTAACTTCCTACAGTGTTTCCCTACAGAACATTGTCTTTCTGGTGTCCTGGGCTGTTTTGAAAAAG
TTTCCATTAATAGACTTTTTAGAAATTATTATTAGTAGCATTTTTTTTCCAGCTTTGCTGTCTTCATCACTCACTCTATGCTCAGACTATGCCACTGTAAATATTCTTCCTAACATCTTTAAATCGCC
TTTTCCTCAGTTTTCAAGGGGAAGGTCATTTGTAAAGCACGTTAGGTGGTTAAATCAGTTATTGCGGTTTTCTCTTACTGCAAGCCTTTTTAATCACCCCCAGGCTGCATTTTATTCTATATCGCCTT
TTTTCTTCAAATCTGCTCCAATCACTCACTTCTCTCTTATAAGCTAATCCTGCCTCACACCTTAAATCTGTTTCAGTGATCAAGGGCAGAACTCATTGTGGCCTTATCTTTCTTTGTTGTAATTGTTC
ACTGTCTCTTTCTTACAGACCACTTATTTCTGAGTAGTAGTTATTCCTCTCTATGGAGTCATGGCAGGAATCATTACACAGTGCTTTTGTTCAGAGCATGGACATGTTCCTAGTGCTGCTTTGCTTTA
ACGGCCACAAGTTTCCTCCACTTCCTAGGTTTGGTATTTAGTTAAGGAATCATATTAAATTAACCAATAACAAAAGAGATACTTTTGAAGAACAAACTATTCCTTACCCATTTTTGTAGCTCAAAAAT
AATTTTTCAAGTTCATGACCTTATTAAAATGAACTTGTGTTTTTTTAACAAACATGTATGTTTTATTTTGATAGTTTCTTTCCGTAAGATAATTGAAATATTATACTGTAAACCCTTTTCTTTTCTTT
TTTTGAAAAGTCCAAGAATGTACTTATACAGGCATTTTTCCCCACCTATTTTTGGCCATTCTCATACCACAGACTAAAGAGTGAAATGATTTGTCCATTGTAGCTTATTGTTTATCAGTAGTTCTTTT
GTCAGCTGCTTACATTTTTTCTTTCATGGTTTTGTGAATCATTTTCAGTATGTAATTTATAGGAACCTTGTCCTCTGGTTATAGTAGACTGTGTGCCCTCCTCCAGTGATGGCATTATTAGACATGCT
GGTCATTTACCCTCAGAAAGACTCTCTTATTAGAATGGTGAGTGCTTCAGTTATAGTATGTTTGAATTTTTAAAAAATTCTGTTTTAGAAATGTATCTTATGCTCTCATGACTATGCAGTTTCTAAAC
ATACACATAGAAGCTGAGTCTCTGATCCAATATGTTTTTATTTGTTCCATTTAATTTATCACATAGATTGGGAAGGCAAGCTAAAAGCCTTAAAAATGCCCTTTATATTTTGAGTGATTTCAGCGTTG
AACACTAGTATACTATCTAAATTTGCTGCTCACTTTCTTTAAACTGTGGCAATTAAAGGCATGTTTATACATGACTTAATCGTGAAATGTTTGTCACTCTTACTGCACAGACTTATCTGCAATCATAA
CTGGTTAGTTTTTTTGTTTTGTTTTGTTTTATTGTTTTTAATGAAACTGGTACCATCTGTGCTTTCACAAAAAACTTCCAATGCCATTTTTGAGAACTAACCTAACTAGTCATGCTAACCAGAAAATC
CACTGGGGAGGAGGTTCCTTTTGAAACAAAATGCTGTTCAGTTAGTAACCAAGTTACTTTGATTGCAAAAGCAGCTGTGTTTCTGATAAGTACTGAACAAATGTGTGTAATTTTCTGTGCCAGACTTA
TGACTTTGTTTTCAAGCACTGTAATGTGGGATGGATGGTTAGAAACAATAATATATTAGGGTTTCTGTTTAACCCTTTCAGGACTGAACTGTATCTCCTTTTGTTAATTTTCCCCTGTGTTGTGATAA
ATGTTTGCCAGCATTCAGTACTGTGTTGGTCCAGATGTAGGTTTATATGCTCATTTTTAGCTTATTTCTTGTACCTTGCAGCATGCTCTACGCATTCAGTCCTTAAGGGGTTTATTTTACAAACTGTG
CGCCTGTAAGGTTTATTAGCAATAAGATAGAAAATTGAGCAAGTTTATACCATAATTTTGTAGAAAAAAAGAATCTGCTCAGTTCCATATTTCATCCGTGAAAAACTTGCAATACGAGCAGTTTCAAG
GAATAAATAAAAAGGAAATGTAAACCATTGTAAAAGTCTTCTGTCGAATGTGCCTGATGCATGTATTATCGTCTTTTATTTCAGAATACTTCATAAAGATAAAATTAAATTCTATATTATAGTTGGTG
TATTTACAATCTTACCATGTACATCACATCAAAGTGATAGCTCTACTAATTTAATTTCCTTGTCAATGTTTTTAACTATATAGTGCTTTAAAGAGATTTTTTTTCCCTGTGTAAA

hide sequence

RefSeq Acc Id:

NM_001374403 ⟹ NP_001361332

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	26,343,140 - 26,435,131 (+)	NCBI
T2T-CHM13v2.0	4	26,328,124 - 26,420,111 (+)	NCBI

Sequence:

show sequence

GTGTTTGTTATTGTGAATCCCTAAGGGTGACTGTTTTTTCAGCAGGGCGAGTTAGGACGGCACAAACTGAGAGTTTCTGTTCTGTCATTGAAATTATGAGACTATCATTCAAATGGAAGCATTATAGT
TCTTCGGAACCATTATGATCTCAAAACGAAAGGAGAATGATACAGATACACTGGCTGAGGTGTTTTGAGGTGCATCGAAGTGTTCCAAGCTGTGACTTACCTTAACATGTTCTTGAAGTACCATGGCG
TGGATTAAAAGGAAATTTGGTGAGCGGCCTCCACCTAAACGACTTACTAGGGAAGCTATGCGAAATTATTTAAAAGAGCGAGGGGATCAAACAGTACTTATTCTTCATGCAAAAGTTGCACAGAAGTC
ATATGGAAATGAAAAAAGGTTTTTTTGCCCACCTCCTTGTGTATATCTTATGGGCAGTGGATGGAAGAAAAAAAAAGAACAAATGGAACGCGATGGTTGTTCTGAACAAGAGTCTCAACCGTGTGCAT
TTATTGGGATAGGAAATAGTGACCAAGAAATGCAGCAGCTAAACTTGGAAGGAAAGAACTATTGCACAGCCAAAACATTGTATATATCTGACTCAGACAAGCGAAAGCACTTCATGTTGTCTGTAAAG
ATGTTCTATGGCAACAGTGATGACATTGGTGTGTTCCTCAGCAAGCGGATAAAAGTCATCTCCAAACCTTCCAAAAAGAAGCAGTCATTGAAAAATGCTGACTTATGCATTGCCTCAGGAACAAAGGT
GGCTCTGTTTAATCGACTACGATCCCAGACAGTTAGTACCAGATACTTGCATGTAGAAGGAGGTAATTTTCATGCCAGTTCACAGCAGTGGGGAGCCTTTTTTATTCATCTCTTGGATGATGATGAAT
CAGAAGGAGAAGAATTCACAGTCCGAGATGGCTACATCCATTATGGACAAACAGTCAAACTTGTGTGCTCAGTTACTGGCATGGCACTCCCAAGATTGATAATTAGGAAAGTTGATAAGCAGACCGCA
TTATTGGATGCAGATGATCCTGTGTCACAACTCCATAAATGTGCATTTTACCTTAAGGATACAGAAAGAATGTATTTGTGCCTTTCTCAAGAAAGAATAATTCAATTTCAGGCCACTCCATGTCCAAA
AGAACCAAATAAAGAGATGATAAATGATGGCGCTTCCTGGACAATCATTAGCACAGATAAGGCAGAGTATACATTTTATGAGGGAATGGGCCCTGTCCTTGCCCCAGTCACTCCTGTGCCTGTGGTAG
AGAGCCTTCAGTTGAATGGCGGTGGGGACGTAGCAATGCTTGAACTTACAGGACAGAATTTCACTCCAAATTTACGAGTGTGGTTTGGGGATGTAGAAGCTGAAACTATGTACAGGTGTGGAGAGAGT
ATGCTCTGTGTCGTCCCAGACATTTCTGCATTCCGAGAAGGTTGGAGATGGGTCCGGCAACCAGTCCAGGTTCCAGTAACTTTGGTCCGAAATGATGGAATCATTTATTCCACCAGCCTTACCTTTAC
CTACACACCAGAACCAGGGCCGCGGCCACATTGCAGTGCAGCAGGAGCAATCCTTCGAGCCAATTCAAGCCAGGTGCCCCCTAACGAATCAAACACAAACAGCGAGGGAAGTTACACAAACGCCAGCA
CAAATTCAACCAGTGTCACATCATCTACAGCCACAGTGGTATCCTAACTACCGTCTTTTTGCTAGGACTTAAACTGACTTGAGTGTGGCAAAAAGTTAACAAAAAAGGAGAAAAAATGAACAATCGTT
TGTGGTTTCTTGGGAAAACTTTTCATACCAGGTGATACTATTCAAAAACCCCGTTGTCTCCCTGCAAGTGCTGATTTGAAATGCAGAAGCCACAGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAA
AAAAATCAAAATGTATAAATATTGGAAATCAAGTTTTTCAGCTGTTTTGTTGGTTGGTTGGTTGGTTTTTGTTTGGTTTTGTTTAAATGGGCAAGAAGTAAATAATGTGGCTGGAATACAAGTTGAAC
AAACTAGAAGACACAAATCTAACATAGTTTTTATGGACCAAGGAACTTGTATATTGTATAAGCTTTAGTAAAAGGTACATTTTCACCATACCTTTTTTTATATCACGGTATTATAGTACACCTTGTTA
CCAAATAGGTTGTTCTCTTCCCCACCCACCTTTGAGCTTTTGCTCTAAAATACATTCAGGTTCCAAGCCTGACCATCCTTGTTTAATCTATCATACTCTTCCAGGTTTTTTTTTTTTGGTCTAAGGCT
GGAACTTTTTTCTTTTTTTTCAGCTGAAGTCTTATGACTTTTCATGAGTCAAAATTGTTTGGATTTCAGCAAGTCAAATCTTGCAAAGGCCTGCATATTTTTTTTAAGATTATATGAAGTCTGTGCAA
AAGCTTTAAAAAAATGCCTCTGCCTTGCCTGCAATACATGCAATGTATGTTAACTTAGTCTCTCTTCTCAGACACTGTTGGTAGTTATTTCTGTGTTTTCCTTTTTTTAAAAAAAAATATGGACTTAT
TGTGGTTATCTGAGAGGTTCTAACATTCACATGCAATTTGGTGTGGCCATTTAGCTATTAATGAGTTAATGGCGCAGAACTTGTTGATATTTGAAGTGTTCTCTCCCCTTTTCCCATGACGTAAATAC
ATAGGTGTGTTCCAGGATTTGTTCAGGTTTTTCCCCCCTCCTAATCTTGTACATAACTTGTATTATGTGTAAGTTAAACATTTTATTTTGAACTTGGAATGTTCCCAGTGATTTCATTCAGCAGGGTA
TTTTCTGCCTTGTTGGCAAGTGACAAAAAATATGGGAAGTATTTGCTACCAGTTGGTAGATGGTGCCCTTAATGGTAGAATGAGGAAAATGTCCGCAAAAGCATGTTTTATTATCTTTACTTTTTTGG
GGGGTTGGAGGGGGTAGCCTAGCCAGAACATCATTGTAATCTTAAAACATAAGATGCTTTTATTAGATGATCAACTAAAATAGCTGGAAGACAGTACTTTAGAAACAGATAGTTGTAAGATTATAAAA
TGCAAATGTAACTTATGTTTTCATTTTTTTCTCTGCCTTTTTTGTTTGTTTGTTTTCTCTTTTCCAGTACTGAGCATCTCCACAAATGTCTCCTAACTCAGAAAATGTTTCTTTTCTTTTCAGTTGAG
ATTTGGTTGCATTCAGGGTTGTAGGTTGGCCTTGCTTGCTAACCCCGCCGGTTTTACCGTGCTTTCATTCCTGAACTTTGTTTATGCCTTTGTTTGGTTTCTTCGAAATTGCAGCAGACTCATTGGGC
TACATTTAGTACAGGAACCACGTGTGTAATGTTATACAACACAGTCTAGTAATACAATCATCCCTCTTAGAGTAAAAACTACCTCTAGATTGTGGTAAGCTTTTACTGTCCCATAAAACAGGAGCCAC
AGTACCTTATGAATGCAAAACTGTAACTTCCTACAGTGTTTCCCTACAGAACATTGTCTTTCTGGTGTCCTGGGCTGTTTTGAAAAAGTTTCCATTAATAGACTTTTTAGAAATTATTATTAGTAGCA
TTTTTTTTCCAGCTTTGCTGTCTTCATCACTCACTCTATGCTCAGACTATGCCACTGTAAATATTCTTCCTAACATCTTTAAATCGCCTTTTCCTCAGTTTTCAAGGGGAAGGTCATTTGTAAAGCAC
GTTAGGTGGTTAAATCAGTTATTGCGGTTTTCTCTTACTGCAAGCCTTTTTAATCACCCCCAGGCTGCATTTTATTCTATATCGCCTTTTTTCTTCAAATCTGCTCCAATCACTCACTTCTCTCTTAT
AAGCTAATCCTGCCTCACACCTTAAATCTGTTTCAGTGATCAAGGGCAGAACTCATTGTGGCCTTATCTTTCTTTGTTGTAATTGTTCACTGTCTCTTTCTTACAGACCACTTATTTCTGAGTAGTAG
TTATTCCTCTCTATGGAGTCATGGCAGGAATCATTACACAGTGCTTTTGTTCAGAGCATGGACATGTTCCTAGTGCTGCTTTGCTTTAACGGCCACAAGTTTCCTCCACTTCCTAGGTTTGGTATTTA
GTTAAGGAATCATATTAAATTAACCAATAACAAAAGAGATACTTTTGAAGAACAAACTATTCCTTACCCATTTTTGTAGCTCAAAAATAATTTTTCAAGTTCATGACCTTATTAAAATGAACTTGTGT
TTTTTTAACAAACATGTATGTTTTATTTTGATAGTTTCTTTCCGTAAGATAATTGAAATATTATACTGTAAACCCTTTTCTTTTCTTTTTTTGAAAAGTCCAAGAATGTACTTATACAGGCATTTTTC
CCCACCTATTTTTGGCCATTCTCATACCACAGACTAAAGAGTGAAATGATTTGTCCATTGTAGCTTATTGTTTATCAGTAGTTCTTTTGTCAGCTGCTTACATTTTTTCTTTCATGGTTTTGTGAATC
ATTTTCAGTATGTAATTTATAGGAACCTTGTCCTCTGGTTATAGTAGACTGTGTGCCCTCCTCCAGTGATGGCATTATTAGACATGCTGGTCATTTACCCTCAGAAAGACTCTCTTATTAGAATGGTG
AGTGCTTCAGTTATAGTATGTTTGAATTTTTAAAAAATTCTGTTTTAGAAATGTATCTTATGCTCTCATGACTATGCAGTTTCTAAACATACACATAGAAGCTGAGTCTCTGATCCAATATGTTTTTA
TTTGTTCCATTTAATTTATCACATAGATTGGGAAGGCAAGCTAAAAGCCTTAAAAATGCCCTTTATATTTTGAGTGATTTCAGCGTTGAACACTAGTATACTATCTAAATTTGCTGCTCACTTTCTTT
AAACTGTGGCAATTAAAGGCATGTTTATACATGACTTAATCGTGAAATGTTTGTCACTCTTACTGCACAGACTTATCTGCAATCATAACTGGTTAGTTTTTTTGTTTTGTTTTGTTTTATTGTTTTTA
ATGAAACTGGTACCATCTGTGCTTTCACAAAAAACTTCCAATGCCATTTTTGAGAACTAACCTAACTAGTCATGCTAACCAGAAAATCCACTGGGGAGGAGGTTCCTTTTGAAACAAAATGCTGTTCA
GTTAGTAACCAAGTTACTTTGATTGCAAAAGCAGCTGTGTTTCTGATAAGTACTGAACAAATGTGTGTAATTTTCTGTGCCAGACTTATGACTTTGTTTTCAAGCACTGTAATGTGGGATGGATGGTT
AGAAACAATAATATATTAGGGTTTCTGTTTAACCCTTTCAGGACTGAACTGTATCTCCTTTTGTTAATTTTCCCCTGTGTTGTGATAAATGTTTGCCAGCATTCAGTACTGTGTTGGTCCAGATGTAG
GTTTATATGCTCATTTTTAGCTTATTTCTTGTACCTTGCAGCATGCTCTACGCATTCAGTCCTTAAGGGGTTTATTTTACAAACTGTGCGCCTGTAAGGTTTATTAGCAATAAGATAGAAAATTGAGC
AAGTTTATACCATAATTTTGTAGAAAAAAAGAATCTGCTCAGTTCCATATTTCATCCGTGAAAAACTTGCAATACGAGCAGTTTCAAGGAATAAATAAAAAGGAAATGTAAACCATTGTAAAAGTCTT
CTGTCGAATGTGCCTGATGCATGTATTATCGTCTTTTATTTCAGAATACTTCATAAAGATAAAATTAAATTCTATATTATAGTTGGTGTATTTACAATCTTACCATGTACATCACATCAAAGTGATAG
CTCTACTAATTTAATTTCCTTGTCAATGTTTTTAACTATATAGTGCTTTAAAGAGATTTTTTTTCCCTGTGTAAA

hide sequence

RefSeq Acc Id:

NM_001379406 ⟹ NP_001366335

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	26,319,746 - 26,435,131 (+)	NCBI
T2T-CHM13v2.0	4	26,304,737 - 26,420,111 (+)	NCBI

Sequence:

show sequence

GCCAATCCTGCAGCGCCTTCAACAGGTTTCGGGCGGCGAATTCCAGTTCTCCGGGTTTTGGGGCTCCCTGCGGGAGGCAGTGCTGGATCTGGGAATCTCTAGGAAAGGAAAGAGCAAAGGAGGGGAAA
GATGGGGGGCTGCAGTCATTGAAATTATGAGACTATCATTCAAATGGAAGCATTATAGTTCTTCGGAACCATTATGATCTCAAAACGAAAGGAGAATGATACAGATACACTGGCTGAGGTGTTTTGAG
GTGCATCGAAGTGTTCCAAGCTGTGACTTACCTTAACATGTTCTTGAAGTACCATGGCGTGGATTAAAAGGAAATTTGGTGAGCGGCCTCCACCTAAACGACTTACTAGGGAAGCTATGCGAAATTAT
TTAAAAGAGCGAGGGGATCAAACAGTACTTATTCTTCATGCAAAAGTTGCACAGAAGTCATATGGAAATGAAAAAAGGTTTTTTTGCCCACCTCCTTGTGTATATCTTATGGGCAGTGGATGGAAGAA
AAAAAAAGAACAAATGGAACGCGATGGTTGTTCTGAACAAGAGTCTCAACCGTGTGCATTTATTGGGATAGGAAATAGTGACCAAGAAATGCAGCAGCTAAACTTGGAAGGAAAGAACTATTGCACAG
CCAAAACATTGTATATATCTGACTCAGACAAGCGAAAGCACTTCATGTTGTCTGTAAAGATGTTCTATGGCAACAGTGATGACATTGGTGTGTTCCTCAGCAAGCGGATAAAAGTCATCTCCAAACCT
TCCAAAAAGAAGCAGTCATTGAAAAATGCTGACTTATGCATTGCCTCAGGAACAAAGGTGGCTCTGTTTAATCGACTACGATCCCAGACAGTTAGTACCAGATACTTGCATGTAGAAGGAGGTAATTT
TCATGCCAGTTCACAGCAGTGGGGAGCCTTTTTTATTCATCTCTTGGATGATGATGAATCAGAAGGAGAAGAATTCACAGTCCGAGATGGCTACATCCATTATGGACAAACAGTCAAACTTGTGTGCT
CAGTTACTGGCATGGCACTCCCAAGATTGATAATTAGGAAAGTTGATAAGCAGACCGCATTATTGGATGCAGATGATCCTGTGTCACAACTCCATAAATGTGCATTTTACCTTAAGGATACAGAAAGA
ATGTATTTGTGCCTTTCTCAAGAAAGAATAATTCAATTTCAGGCCACTCCATGTCCAAAAGAACCAAATAAAGAGATGATAAATGATGGCGCTTCCTGGACAATCATTAGCACAGATAAGGCAGAGTA
TACATTTTATGAGGGAATGGGCCCTGTCCTTGCCCCAGTCACTCCTGTGCCTGTGGTAGAGAGCCTTCAGTTGAATGGCGGTGGGGACGTAGCAATGCTTGAACTTACAGGACAGAATTTCACTCCAA
ATTTACGAGTGTGGTTTGGGGATGTAGAAGCTGAAACTATGTACAGGTGTGGAGAGAGTATGCTCTGTGTCGTCCCAGACATTTCTGCATTCCGAGAAGGTTGGAGATGGGTCCGGCAACCAGTCCAG
GTTCCAGTAACTTTGGTCCGAAATGATGGAATCATTTATTCCACCAGCCTTACCTTTACCTACACACCAGAACCAGGGCCGCGGCCACATTGCAGTGCAGCAGGAGCAATCCTTCGAGCCAATTCAAG
CCAGGTGCCCCCTAACGAATCAAACACAAACAGCGAGGGAAGTTACACAAACGCCAGCACAAATTCAACCAGTGTCACATCATCTACAGCCACAGTGGTATCCTAACTACCGTCTTTTTGCTAGGACT
TAAACTGACTTGAGTGTGGCAAAAAGTTAACAAAAAAGGAGAAAAAATGAACAATCGTTTGTGGTTTCTTGGGAAAACTTTTCATACCAGGTGATACTATTCAAAAACCCCGTTGTCTCCCTGCAAGT
GCTGATTTGAAATGCAGAAGCCACAGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAATCAAAATGTATAAATATTGGAAATCAAGTTTTTCAGCTGTTTTGTTGGTTGGTTGGTTGGTTTT
TGTTTGGTTTTGTTTAAATGGGCAAGAAGTAAATAATGTGGCTGGAATACAAGTTGAACAAACTAGAAGACACAAATCTAACATAGTTTTTATGGACCAAGGAACTTGTATATTGTATAAGCTTTAGT
AAAAGGTACATTTTCACCATACCTTTTTTTATATCACGGTATTATAGTACACCTTGTTACCAAATAGGTTGTTCTCTTCCCCACCCACCTTTGAGCTTTTGCTCTAAAATACATTCAGGTTCCAAGCC
TGACCATCCTTGTTTAATCTATCATACTCTTCCAGGTTTTTTTTTTTTGGTCTAAGGCTGGAACTTTTTTCTTTTTTTTCAGCTGAAGTCTTATGACTTTTCATGAGTCAAAATTGTTTGGATTTCAG
CAAGTCAAATCTTGCAAAGGCCTGCATATTTTTTTTAAGATTATATGAAGTCTGTGCAAAAGCTTTAAAAAAATGCCTCTGCCTTGCCTGCAATACATGCAATGTATGTTAACTTAGTCTCTCTTCTC
AGACACTGTTGGTAGTTATTTCTGTGTTTTCCTTTTTTTAAAAAAAAATATGGACTTATTGTGGTTATCTGAGAGGTTCTAACATTCACATGCAATTTGGTGTGGCCATTTAGCTATTAATGAGTTAA
TGGCGCAGAACTTGTTGATATTTGAAGTGTTCTCTCCCCTTTTCCCATGACGTAAATACATAGGTGTGTTCCAGGATTTGTTCAGGTTTTTCCCCCCTCCTAATCTTGTACATAACTTGTATTATGTG
TAAGTTAAACATTTTATTTTGAACTTGGAATGTTCCCAGTGATTTCATTCAGCAGGGTATTTTCTGCCTTGTTGGCAAGTGACAAAAAATATGGGAAGTATTTGCTACCAGTTGGTAGATGGTGCCCT
TAATGGTAGAATGAGGAAAATGTCCGCAAAAGCATGTTTTATTATCTTTACTTTTTTGGGGGGTTGGAGGGGGTAGCCTAGCCAGAACATCATTGTAATCTTAAAACATAAGATGCTTTTATTAGATG
ATCAACTAAAATAGCTGGAAGACAGTACTTTAGAAACAGATAGTTGTAAGATTATAAAATGCAAATGTAACTTATGTTTTCATTTTTTTCTCTGCCTTTTTTGTTTGTTTGTTTTCTCTTTTCCAGTA
CTGAGCATCTCCACAAATGTCTCCTAACTCAGAAAATGTTTCTTTTCTTTTCAGTTGAGATTTGGTTGCATTCAGGGTTGTAGGTTGGCCTTGCTTGCTAACCCCGCCGGTTTTACCGTGCTTTCATT
CCTGAACTTTGTTTATGCCTTTGTTTGGTTTCTTCGAAATTGCAGCAGACTCATTGGGCTACATTTAGTACAGGAACCACGTGTGTAATGTTATACAACACAGTCTAGTAATACAATCATCCCTCTTA
GAGTAAAAACTACCTCTAGATTGTGGTAAGCTTTTACTGTCCCATAAAACAGGAGCCACAGTACCTTATGAATGCAAAACTGTAACTTCCTACAGTGTTTCCCTACAGAACATTGTCTTTCTGGTGTC
CTGGGCTGTTTTGAAAAAGTTTCCATTAATAGACTTTTTAGAAATTATTATTAGTAGCATTTTTTTTCCAGCTTTGCTGTCTTCATCACTCACTCTATGCTCAGACTATGCCACTGTAAATATTCTTC
CTAACATCTTTAAATCGCCTTTTCCTCAGTTTTCAAGGGGAAGGTCATTTGTAAAGCACGTTAGGTGGTTAAATCAGTTATTGCGGTTTTCTCTTACTGCAAGCCTTTTTAATCACCCCCAGGCTGCA
TTTTATTCTATATCGCCTTTTTTCTTCAAATCTGCTCCAATCACTCACTTCTCTCTTATAAGCTAATCCTGCCTCACACCTTAAATCTGTTTCAGTGATCAAGGGCAGAACTCATTGTGGCCTTATCT
TTCTTTGTTGTAATTGTTCACTGTCTCTTTCTTACAGACCACTTATTTCTGAGTAGTAGTTATTCCTCTCTATGGAGTCATGGCAGGAATCATTACACAGTGCTTTTGTTCAGAGCATGGACATGTTC
CTAGTGCTGCTTTGCTTTAACGGCCACAAGTTTCCTCCACTTCCTAGGTTTGGTATTTAGTTAAGGAATCATATTAAATTAACCAATAACAAAAGAGATACTTTTGAAGAACAAACTATTCCTTACCC
ATTTTTGTAGCTCAAAAATAATTTTTCAAGTTCATGACCTTATTAAAATGAACTTGTGTTTTTTTAACAAACATGTATGTTTTATTTTGATAGTTTCTTTCCGTAAGATAATTGAAATATTATACTGT
AAACCCTTTTCTTTTCTTTTTTTGAAAAGTCCAAGAATGTACTTATACAGGCATTTTTCCCCACCTATTTTTGGCCATTCTCATACCACAGACTAAAGAGTGAAATGATTTGTCCATTGTAGCTTATT
GTTTATCAGTAGTTCTTTTGTCAGCTGCTTACATTTTTTCTTTCATGGTTTTGTGAATCATTTTCAGTATGTAATTTATAGGAACCTTGTCCTCTGGTTATAGTAGACTGTGTGCCCTCCTCCAGTGA
TGGCATTATTAGACATGCTGGTCATTTACCCTCAGAAAGACTCTCTTATTAGAATGGTGAGTGCTTCAGTTATAGTATGTTTGAATTTTTAAAAAATTCTGTTTTAGAAATGTATCTTATGCTCTCAT
GACTATGCAGTTTCTAAACATACACATAGAAGCTGAGTCTCTGATCCAATATGTTTTTATTTGTTCCATTTAATTTATCACATAGATTGGGAAGGCAAGCTAAAAGCCTTAAAAATGCCCTTTATATT
TTGAGTGATTTCAGCGTTGAACACTAGTATACTATCTAAATTTGCTGCTCACTTTCTTTAAACTGTGGCAATTAAAGGCATGTTTATACATGACTTAATCGTGAAATGTTTGTCACTCTTACTGCACA
GACTTATCTGCAATCATAACTGGTTAGTTTTTTTGTTTTGTTTTGTTTTATTGTTTTTAATGAAACTGGTACCATCTGTGCTTTCACAAAAAACTTCCAATGCCATTTTTGAGAACTAACCTAACTAG
TCATGCTAACCAGAAAATCCACTGGGGAGGAGGTTCCTTTTGAAACAAAATGCTGTTCAGTTAGTAACCAAGTTACTTTGATTGCAAAAGCAGCTGTGTTTCTGATAAGTACTGAACAAATGTGTGTA
ATTTTCTGTGCCAGACTTATGACTTTGTTTTCAAGCACTGTAATGTGGGATGGATGGTTAGAAACAATAATATATTAGGGTTTCTGTTTAACCCTTTCAGGACTGAACTGTATCTCCTTTTGTTAATT
TTCCCCTGTGTTGTGATAAATGTTTGCCAGCATTCAGTACTGTGTTGGTCCAGATGTAGGTTTATATGCTCATTTTTAGCTTATTTCTTGTACCTTGCAGCATGCTCTACGCATTCAGTCCTTAAGGG
GTTTATTTTACAAACTGTGCGCCTGTAAGGTTTATTAGCAATAAGATAGAAAATTGAGCAAGTTTATACCATAATTTTGTAGAAAAAAAGAATCTGCTCAGTTCCATATTTCATCCGTGAAAAACTTG
CAATACGAGCAGTTTCAAGGAATAAATAAAAAGGAAATGTAAACCATTGTAAAAGTCTTCTGTCGAATGTGCCTGATGCATGTATTATCGTCTTTTATTTCAGAATACTTCATAAAGATAAAATTAAA
TTCTATATTATAGTTGGTGTATTTACAATCTTACCATGTACATCACATCAAAGTGATAGCTCTACTAATTTAATTTCCTTGTCAATGTTTTTAACTATATAGTGCTTTAAAGAGATTTTTTTTCCCTG
TGTAAA

hide sequence

RefSeq Acc Id:

NM_001379407 ⟹ NP_001366336

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	26,319,746 - 26,435,131 (+)	NCBI
T2T-CHM13v2.0	4	26,304,737 - 26,420,111 (+)	NCBI

Sequence:

show sequence

GCCAATCCTGCAGCGCCTTCAACAGGTTTCGGGCGGCGAATTCCAGTTCTCCGGGTTTTGGGGC
TCCCTGCGGGAGGCAGTGCTGGATCTGGGAATCTCTAGGAAAGGAAAGAGCAAAGGAGGGGAAAGATGGGGGGCTGCAGTCTCCACGTACGTCCCTCAAAGCGCGTCCTAAAACCCGGATAACCGGAG
CGCTCCCCATGGACCACACGGAGGGCTCGCCCGCGGAGGAGCCGCCTGCGCATGCTCCATCGCCTGGTCATTGAAATTATGAGACTATCATTCAAATGGAAGCATTATAGTTCTTCGGAACCATTATG
ATCTCAAAACGAAAGGAGAATGATACAGATACACTGGCTGAGGTGTTTTGAGGTGCATCGAAGTGTTCCAAGCTGTGACTTACCTTAACATGTTCTTGAAGTACCATGGCGTGGATTAAAAGGAAATT
TGGTGAGCGGCCTCCACCTAAACGACTTACTAGGGAAGCTATGCGAAATTATTTAAAAGAGCGAGGGGATCAAACAGTACTTATTCTTCATGCAAAAGTTGCACAGAAGTCATATGGAAATGAAAAAA
GGTTTTTTTGCCCACCTCCTTGTGTATATCTTATGGGCAGTGGATGGAAGAAAAAAAAAGAACAAATGGAACGCGATGGTTGTTCTGAACAAGAGTCTCAACCGTGTGCATTTATTGGGATAGGAAAT
AGTGACCAAGAAATGCAGCAGCTAAACTTGGAAGGAAAGAACTATTGCACAGCCAAAACATTGTATATATCTGACTCAGACAAGCGAAAGCACTTCATGTTGTCTGTAAAGATGTTCTATGGCAACAG
TGATGACATTGGTGTGTTCCTCAGCAAGCGGATAAAAGTCATCTCCAAACCTTCCAAAAAGAAGCAGTCATTGAAAAATGCTGACTTATGCATTGCCTCAGGAACAAAGGTGGCTCTGTTTAATCGAC
TACGATCCCAGACAGTTAGTACCAGATACTTGCATGTAGAAGGAGGTAATTTTCATGCCAGTTCACAGCAGTGGGGAGCCTTTTTTATTCATCTCTTGGATGATGATGAATCAGAAGGAGAAGAATTC
ACAGTCCGAGATGGCTACATCCATTATGGACAAACAGTCAAACTTGTGTGCTCAGTTACTGGCATGGCACTCCCAAGATTGATAATTAGGAAAGTTGATAAGCAGACCGCATTATTGGATGCAGATGA
TCCTGTGTCACAACTCCATAAATGTGCATTTTACCTTAAGGATACAGAAAGAATGTATTTGTGCCTTTCTCAAGAAAGAATAATTCAATTTCAGGCCACTCCATGTCCAAAAGAACCAAATAAAGAGA
TGATAAATGATGGCGCTTCCTGGACAATCATTAGCACAGATAAGGCAGAGTATACATTTTATGAGGGAATGGGCCCTGTCCTTGCCCCAGTCACTCCTGTGCCTGTGGTAGAGAGCCTTCAGTTGAAT
GGCGGTGGGGACGTAGCAATGCTTGAACTTACAGGACAGAATTTCACTCCAAATTTACGAGTGTGGTTTGGGGATGTAGAAGCTGAAACTATGTACAGGTGTGGAGAGAGTATGCTCTGTGTCGTCCC
AGACATTTCTGCATTCCGAGAAGGTTGGAGATGGGTCCGGCAACCAGTCCAGGTTCCAGTAACTTTGGTCCGAAATGATGGAATCATTTATTCCACCAGCCTTACCTTTACCTACACACCAGAACCAG
GGCCGCGGCCACATTGCAGTGCAGCAGGAGCAATCCTTCGAGCCAATTCAAGCCAGGTGCCCCCTAACGAATCAAACACAAACAGCGAGGGAAGTTACACAAACGCCAGCACAAATTCAACCAGTGTC
ACATCATCTACAGCCACAGTGGTATCCTAACTACCGTCTTTTTGCTAGGACTTAAACTGACTTGAGTGTGGCAAAAAGTTAACAAAAAAGGAGAAAAAATGAACAATCGTTTGTGGTTTCTTGGGAAA
ACTTTTCATACCAGGTGATACTATTCAAAAACCCCGTTGTCTCCCTGCAAGTGCTGATTTGAAATGCAGAAGCCACAGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAATCAAAATGTATA
AATATTGGAAATCAAGTTTTTCAGCTGTTTTGTTGGTTGGTTGGTTGGTTTTTGTTTGGTTTTGTTTAAATGGGCAAGAAGTAAATAATGTGGCTGGAATACAAGTTGAACAAACTAGAAGACACAAA
TCTAACATAGTTTTTATGGACCAAGGAACTTGTATATTGTATAAGCTTTAGTAAAAGGTACATTTTCACCATACCTTTTTTTATATCACGGTATTATAGTACACCTTGTTACCAAATAGGTTGTTCTC
TTCCCCACCCACCTTTGAGCTTTTGCTCTAAAATACATTCAGGTTCCAAGCCTGACCATCCTTGTTTAATCTATCATACTCTTCCAGGTTTTTTTTTTTTGGTCTAAGGCTGGAACTTTTTTCTTTTT
TTTCAGCTGAAGTCTTATGACTTTTCATGAGTCAAAATTGTTTGGATTTCAGCAAGTCAAATCTTGCAAAGGCCTGCATATTTTTTTTAAGATTATATGAAGTCTGTGCAAAAGCTTTAAAAAAATGC
CTCTGCCTTGCCTGCAATACATGCAATGTATGTTAACTTAGTCTCTCTTCTCAGACACTGTTGGTAGTTATTTCTGTGTTTTCCTTTTTTTAAAAAAAAATATGGACTTATTGTGGTTATCTGAGAGG
TTCTAACATTCACATGCAATTTGGTGTGGCCATTTAGCTATTAATGAGTTAATGGCGCAGAACTTGTTGATATTTGAAGTGTTCTCTCCCCTTTTCCCATGACGTAAATACATAGGTGTGTTCCAGGA
TTTGTTCAGGTTTTTCCCCCCTCCTAATCTTGTACATAACTTGTATTATGTGTAAGTTAAACATTTTATTTTGAACTTGGAATGTTCCCAGTGATTTCATTCAGCAGGGTATTTTCTGCCTTGTTGGC
AAGTGACAAAAAATATGGGAAGTATTTGCTACCAGTTGGTAGATGGTGCCCTTAATGGTAGAATGAGGAAAATGTCCGCAAAAGCATGTTTTATTATCTTTACTTTTTTGGGGGGTTGGAGGGGGTAG
CCTAGCCAGAACATCATTGTAATCTTAAAACATAAGATGCTTTTATTAGATGATCAACTAAAATAGCTGGAAGACAGTACTTTAGAAACAGATAGTTGTAAGATTATAAAATGCAAATGTAACTTATG
TTTTCATTTTTTTCTCTGCCTTTTTTGTTTGTTTGTTTTCTCTTTTCCAGTACTGAGCATCTCCACAAATGTCTCCTAACTCAGAAAATGTTTCTTTTCTTTTCAGTTGAGATTTGGTTGCATTCAGG
GTTGTAGGTTGGCCTTGCTTGCTAACCCCGCCGGTTTTACCGTGCTTTCATTCCTGAACTTTGTTTATGCCTTTGTTTGGTTTCTTCGAAATTGCAGCAGACTCATTGGGCTACATTTAGTACAGGAA
CCACGTGTGTAATGTTATACAACACAGTCTAGTAATACAATCATCCCTCTTAGAGTAAAAACTACCTCTAGATTGTGGTAAGCTTTTACTGTCCCATAAAACAGGAGCCACAGTACCTTATGAATGCA
AAACTGTAACTTCCTACAGTGTTTCCCTACAGAACATTGTCTTTCTGGTGTCCTGGGCTGTTTTGAAAAAGTTTCCATTAATAGACTTTTTAGAAATTATTATTAGTAGCATTTTTTTTCCAGCTTTG
CTGTCTTCATCACTCACTCTATGCTCAGACTATGCCACTGTAAATATTCTTCCTAACATCTTTAAATCGCCTTTTCCTCAGTTTTCAAGGGGAAGGTCATTTGTAAAGCACGTTAGGTGGTTAAATCA
GTTATTGCGGTTTTCTCTTACTGCAAGCCTTTTTAATCACCCCCAGGCTGCATTTTATTCTATATCGCCTTTTTTCTTCAAATCTGCTCCAATCACTCACTTCTCTCTTATAAGCTAATCCTGCCTCA
CACCTTAAATCTGTTTCAGTGATCAAGGGCAGAACTCATTGTGGCCTTATCTTTCTTTGTTGTAATTGTTCACTGTCTCTTTCTTACAGACCACTTATTTCTGAGTAGTAGTTATTCCTCTCTATGGA
GTCATGGCAGGAATCATTACACAGTGCTTTTGTTCAGAGCATGGACATGTTCCTAGTGCTGCTTTGCTTTAACGGCCACAAGTTTCCTCCACTTCCTAGGTTTGGTATTTAGTTAAGGAATCATATTA
AATTAACCAATAACAAAAGAGATACTTTTGAAGAACAAACTATTCCTTACCCATTTTTGTAGCTCAAAAATAATTTTTCAAGTTCATGACCTTATTAAAATGAACTTGTGTTTTTTTAACAAACATGT
ATGTTTTATTTTGATAGTTTCTTTCCGTAAGATAATTGAAATATTATACTGTAAACCCTTTTCTTTTCTTTTTTTGAAAAGTCCAAGAATGTACTTATACAGGCATTTTTCCCCACCTATTTTTGGCC
ATTCTCATACCACAGACTAAAGAGTGAAATGATTTGTCCATTGTAGCTTATTGTTTATCAGTAGTTCTTTTGTCAGCTGCTTACATTTTTTCTTTCATGGTTTTGTGAATCATTTTCAGTATGTAATT
TATAGGAACCTTGTCCTCTGGTTATAGTAGACTGTGTGCCCTCCTCCAGTGATGGCATTATTAGACATGCTGGTCATTTACCCTCAGAAAGACTCTCTTATTAGAATGGTGAGTGCTTCAGTTATAGT
ATGTTTGAATTTTTAAAAAATTCTGTTTTAGAAATGTATCTTATGCTCTCATGACTATGCAGTTTCTAAACATACACATAGAAGCTGAGTCTCTGATCCAATATGTTTTTATTTGTTCCATTTAATTT
ATCACATAGATTGGGAAGGCAAGCTAAAAGCCTTAAAAATGCCCTTTATATTTTGAGTGATTTCAGCGTTGAACACTAGTATACTATCTAAATTTGCTGCTCACTTTCTTTAAACTGTGGCAATTAAA
GGCATGTTTATACATGACTTAATCGTGAAATGTTTGTCACTCTTACTGCACAGACTTATCTGCAATCATAACTGGTTAGTTTTTTTGTTTTGTTTTGTTTTATTGTTTTTAATGAAACTGGTACCATC
TGTGCTTTCACAAAAAACTTCCAATGCCATTTTTGAGAACTAACCTAACTAGTCATGCTAACCAGAAAATCCACTGGGGAGGAGGTTCCTTTTGAAACAAAATGCTGTTCAGTTAGTAACCAAGTTAC
TTTGATTGCAAAAGCAGCTGTGTTTCTGATAAGTACTGAACAAATGTGTGTAATTTTCTGTGCCAGACTTATGACTTTGTTTTCAAGCACTGTAATGTGGGATGGATGGTTAGAAACAATAATATATT
AGGGTTTCTGTTTAACCCTTTCAGGACTGAACTGTATCTCCTTTTGTTAATTTTCCCCTGTGTTGTGATAAATGTTTGCCAGCATTCAGTACTGTGTTGGTCCAGATGTAGGTTTATATGCTCATTTT
TAGCTTATTTCTTGTACCTTGCAGCATGCTCTACGCATTCAGTCCTTAAGGGGTTTATTTTACAAACTGTGCGCCTGTAAGGTTTATTAGCAATAAGATAGAAAATTGAGCAAGTTTATACCATAATT
TTGTAGAAAAAAAGAATCTGCTCAGTTCCATATTTCATCCGTGAAAAACTTGCAATACGAGCAGTTTCAAGGAATAAATAAAAAGGAAATGTAAACCATTGTAAAAGTCTTCTGTCGAATGTGCCTGA
TGCATGTATTATCGTCTTTTATTTCAGAATACTTCATAAAGATAAAATTAAATTCTATATTATAGTTGGTGTATTTACAATCTTACCATGTACATCACATCAAAGTGATAGCTCTACTAATTTAATTT
CCTTGTCAATGTTTTTAACTATATAGTGCTTTAAAGAGATTTTTTTTCCCTGTGTAAA

hide sequence

RefSeq Acc Id:

NM_001379408 ⟹ NP_001366337

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	26,319,746 - 26,435,131 (+)	NCBI
T2T-CHM13v2.0	4	26,304,737 - 26,420,111 (+)	NCBI

Sequence:

show sequence

GCCAATCCTGCAGCGCCTTCAACAGGTTTCGGGCGGCGAATTCCAGTTCTCCGGGTTTTGGGGC
TCCCTGCGGGAGGCAGTGCTGGATCTGGGAATCTCTAGGAAAGGAAAGAGCAAAGGAGGGGAAAGATGGGGGGCTGCAGTCTCCACGTACGTCCCTCAAAGCGCGTCCTAAAACCCGGATAACCGGAG
CGCTCCCCATGGACCACACGGAGGGCTCGCCCGCGGAGGAGCCGCCTGCGCATGCTCCATCGCCTGGGAAATTTGGTGAGCGGCCTCCACCTAAACGACTTACTAGGGAAGCTATGCGAAATTATTTA
AAAGAGCGAGGGGATCAAACAGTACTTATTCTTCATGCAAAAGTTGCACAGAAGTCATATGGAAATGAAAAAAGGTTTTTTTGCCCACCTCCTTGTGTATATCTTATGGGCAGTGGATGGAAGAAAAA
AAAAGAACAAATGGAACGCGATGGTTGTTCTGAACAAGAGTCTCAACCGTGTGCATTTATTGGGATAGGAAATAGTGACCAAGAAATGCAGCAGCTAAACTTGGAAGGAAAGAACTATTGCACAGCCA
AAACATTGTATATATCTGACTCAGACAAGCGAAAGCACTTCATGTTGTCTGTAAAGATGTTCTATGGCAACAGTGATGACATTGGTGTGTTCCTCAGCAAGCGGATAAAAGTCATCTCCAAACCTTCC
AAAAAGAAGCAGTCATTGAAAAATGCTGACTTATGCATTGCCTCAGGAACAAAGGTGGCTCTGTTTAATCGACTACGATCCCAGACAGTTAGTACCAGATACTTGCATGTAGAAGGAGGTAATTTTCA
TGCCAGTTCACAGCAGTGGGGAGCCTTTTTTATTCATCTCTTGGATGATGATGAATCAGAAGGAGAAGAATTCACAGTCCGAGATGGCTACATCCATTATGGACAAACAGTCAAACTTGTGTGCTCAG
TTACTGGCATGGCACTCCCAAGATTGATAATTAGGAAAGTTGATAAGCAGACCGCATTATTGGATGCAGATGATCCTGTGTCACAACTCCATAAATGTGCATTTTACCTTAAGGATACAGAAAGAATG
TATTTGTGCCTTTCTCAAGAAAGAATAATTCAATTTCAGTTGAATGGCGGTGGGGACGTAGCAATGCTTGAACTTACAGGACAGAATTTCACTCCAAATTTACGAGTGTGGTTTGGGGATGTAGAAGC
TGAAACTATGTACAGGTGTGGAGAGAGTATGCTCTGTGTCGTCCCAGACATTTCTGCATTCCGAGAAGGTTGGAGATGGGTCCGGCAACCAGTCCAGGTTCCAGTAACTTTGGTCCGAAATGATGGAA
TCATTTATTCCACCAGCCTTACCTTTACCTACACACCAGAACCAGGGCCGCGGCCACATTGCAGTGCAGCAGGAGCAATCCTTCGAGCCAATTCAAGCCAGGTGCCCCCTAACGAATCAAACACAAAC
AGCGAGGGAAGTTACACAAACGCCAGCACAAATTCAACCAGTGTCACATCATCTACAGCCACAGTGGTATCCTAACTACCGTCTTTTTGCTAGGACTTAAACTGACTTGAGTGTGGCAAAAAGTTAAC
AAAAAAGGAGAAAAAATGAACAATCGTTTGTGGTTTCTTGGGAAAACTTTTCATACCAGGTGATACTATTCAAAAACCCCGTTGTCTCCCTGCAAGTGCTGATTTGAAATGCAGAAGCCACAGTAAAA
AAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAATCAAAATGTATAAATATTGGAAATCAAGTTTTTCAGCTGTTTTGTTGGTTGGTTGGTTGGTTTTTGTTTGGTTTTGTTTAAATGGGCAAGAAGTA
AATAATGTGGCTGGAATACAAGTTGAACAAACTAGAAGACACAAATCTAACATAGTTTTTATGGACCAAGGAACTTGTATATTGTATAAGCTTTAGTAAAAGGTACATTTTCACCATACCTTTTTTTA
TATCACGGTATTATAGTACACCTTGTTACCAAATAGGTTGTTCTCTTCCCCACCCACCTTTGAGCTTTTGCTCTAAAATACATTCAGGTTCCAAGCCTGACCATCCTTGTTTAATCTATCATACTCTT
CCAGGTTTTTTTTTTTTGGTCTAAGGCTGGAACTTTTTTCTTTTTTTTCAGCTGAAGTCTTATGACTTTTCATGAGTCAAAATTGTTTGGATTTCAGCAAGTCAAATCTTGCAAAGGCCTGCATATTT
TTTTTAAGATTATATGAAGTCTGTGCAAAAGCTTTAAAAAAATGCCTCTGCCTTGCCTGCAATACATGCAATGTATGTTAACTTAGTCTCTCTTCTCAGACACTGTTGGTAGTTATTTCTGTGTTTTC
CTTTTTTTAAAAAAAAATATGGACTTATTGTGGTTATCTGAGAGGTTCTAACATTCACATGCAATTTGGTGTGGCCATTTAGCTATTAATGAGTTAATGGCGCAGAACTTGTTGATATTTGAAGTGTT
CTCTCCCCTTTTCCCATGACGTAAATACATAGGTGTGTTCCAGGATTTGTTCAGGTTTTTCCCCCCTCCTAATCTTGTACATAACTTGTATTATGTGTAAGTTAAACATTTTATTTTGAACTTGGAAT
GTTCCCAGTGATTTCATTCAGCAGGGTATTTTCTGCCTTGTTGGCAAGTGACAAAAAATATGGGAAGTATTTGCTACCAGTTGGTAGATGGTGCCCTTAATGGTAGAATGAGGAAAATGTCCGCAAAA
GCATGTTTTATTATCTTTACTTTTTTGGGGGGTTGGAGGGGGTAGCCTAGCCAGAACATCATTGTAATCTTAAAACATAAGATGCTTTTATTAGATGATCAACTAAAATAGCTGGAAGACAGTACTTT
AGAAACAGATAGTTGTAAGATTATAAAATGCAAATGTAACTTATGTTTTCATTTTTTTCTCTGCCTTTTTTGTTTGTTTGTTTTCTCTTTTCCAGTACTGAGCATCTCCACAAATGTCTCCTAACTCA
GAAAATGTTTCTTTTCTTTTCAGTTGAGATTTGGTTGCATTCAGGGTTGTAGGTTGGCCTTGCTTGCTAACCCCGCCGGTTTTACCGTGCTTTCATTCCTGAACTTTGTTTATGCCTTTGTTTGGTTT
CTTCGAAATTGCAGCAGACTCATTGGGCTACATTTAGTACAGGAACCACGTGTGTAATGTTATACAACACAGTCTAGTAATACAATCATCCCTCTTAGAGTAAAAACTACCTCTAGATTGTGGTAAGC
TTTTACTGTCCCATAAAACAGGAGCCACAGTACCTTATGAATGCAAAACTGTAACTTCCTACAGTGTTTCCCTACAGAACATTGTCTTTCTGGTGTCCTGGGCTGTTTTGAAAAAGTTTCCATTAATA
GACTTTTTAGAAATTATTATTAGTAGCATTTTTTTTCCAGCTTTGCTGTCTTCATCACTCACTCTATGCTCAGACTATGCCACTGTAAATATTCTTCCTAACATCTTTAAATCGCCTTTTCCTCAGTT
TTCAAGGGGAAGGTCATTTGTAAAGCACGTTAGGTGGTTAAATCAGTTATTGCGGTTTTCTCTTACTGCAAGCCTTTTTAATCACCCCCAGGCTGCATTTTATTCTATATCGCCTTTTTTCTTCAAAT
CTGCTCCAATCACTCACTTCTCTCTTATAAGCTAATCCTGCCTCACACCTTAAATCTGTTTCAGTGATCAAGGGCAGAACTCATTGTGGCCTTATCTTTCTTTGTTGTAATTGTTCACTGTCTCTTTC
TTACAGACCACTTATTTCTGAGTAGTAGTTATTCCTCTCTATGGAGTCATGGCAGGAATCATTACACAGTGCTTTTGTTCAGAGCATGGACATGTTCCTAGTGCTGCTTTGCTTTAACGGCCACAAGT
TTCCTCCACTTCCTAGGTTTGGTATTTAGTTAAGGAATCATATTAAATTAACCAATAACAAAAGAGATACTTTTGAAGAACAAACTATTCCTTACCCATTTTTGTAGCTCAAAAATAATTTTTCAAGT
TCATGACCTTATTAAAATGAACTTGTGTTTTTTTAACAAACATGTATGTTTTATTTTGATAGTTTCTTTCCGTAAGATAATTGAAATATTATACTGTAAACCCTTTTCTTTTCTTTTTTTGAAAAGTC
CAAGAATGTACTTATACAGGCATTTTTCCCCACCTATTTTTGGCCATTCTCATACCACAGACTAAAGAGTGAAATGATTTGTCCATTGTAGCTTATTGTTTATCAGTAGTTCTTTTGTCAGCTGCTTA
CATTTTTTCTTTCATGGTTTTGTGAATCATTTTCAGTATGTAATTTATAGGAACCTTGTCCTCTGGTTATAGTAGACTGTGTGCCCTCCTCCAGTGATGGCATTATTAGACATGCTGGTCATTTACCC
TCAGAAAGACTCTCTTATTAGAATGGTGAGTGCTTCAGTTATAGTATGTTTGAATTTTTAAAAAATTCTGTTTTAGAAATGTATCTTATGCTCTCATGACTATGCAGTTTCTAAACATACACATAGAA
GCTGAGTCTCTGATCCAATATGTTTTTATTTGTTCCATTTAATTTATCACATAGATTGGGAAGGCAAGCTAAAAGCCTTAAAAATGCCCTTTATATTTTGAGTGATTTCAGCGTTGAACACTAGTATA
CTATCTAAATTTGCTGCTCACTTTCTTTAAACTGTGGCAATTAAAGGCATGTTTATACATGACTTAATCGTGAAATGTTTGTCACTCTTACTGCACAGACTTATCTGCAATCATAACTGGTTAGTTTT
TTTGTTTTGTTTTGTTTTATTGTTTTTAATGAAACTGGTACCATCTGTGCTTTCACAAAAAACTTCCAATGCCATTTTTGAGAACTAACCTAACTAGTCATGCTAACCAGAAAATCCACTGGGGAGGA
GGTTCCTTTTGAAACAAAATGCTGTTCAGTTAGTAACCAAGTTACTTTGATTGCAAAAGCAGCTGTGTTTCTGATAAGTACTGAACAAATGTGTGTAATTTTCTGTGCCAGACTTATGACTTTGTTTT
CAAGCACTGTAATGTGGGATGGATGGTTAGAAACAATAATATATTAGGGTTTCTGTTTAACCCTTTCAGGACTGAACTGTATCTCCTTTTGTTAATTTTCCCCTGTGTTGTGATAAATGTTTGCCAGC
ATTCAGTACTGTGTTGGTCCAGATGTAGGTTTATATGCTCATTTTTAGCTTATTTCTTGTACCTTGCAGCATGCTCTACGCATTCAGTCCTTAAGGGGTTTATTTTACAAACTGTGCGCCTGTAAGGT
TTATTAGCAATAAGATAGAAAATTGAGCAAGTTTATACCATAATTTTGTAGAAAAAAAGAATCTGCTCAGTTCCATATTTCATCCGTGAAAAACTTGCAATACGAGCAGTTTCAAGGAATAAATAAAA
AGGAAATGTAAACCATTGTAAAAGTCTTCTGTCGAATGTGCCTGATGCATGTATTATCGTCTTTTATTTCAGAATACTTCATAAAGATAAAATTAAATTCTATATTATAGTTGGTGTATTTACAATCT
TACCATGTACATCACATCAAAGTGATAGCTCTACTAATTTAATTTCCTTGTCAATGTTTTTAACTATATAGTGCTTTAAAGAGATTTTTTTTCCCTGTGTAAA

hide sequence

RefSeq Acc Id:

NM_001379409 ⟹ NP_001366338

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	26,319,746 - 26,435,131 (+)	NCBI
T2T-CHM13v2.0	4	26,304,737 - 26,420,111 (+)	NCBI

Sequence:

show sequence

GCCAATCCTGCAGCGCCTTCAACAGGTTTCGGGCGGCGAATTCCAGTTCTCCGGGTTTTGGGGCTCCCTGCGGGAGGCAGTGCTGGATCTGGGAATCTCTAGGAAAGGAAAGAGCAAAGGAGGGGAAA
GATGGGGGGCTGCAGGAAATTTGGTGAGCGGCCTCCACCTAAACGACTTACTAGGGAAGCTATGCGAAATTATTTAAAAGAGCGAGGGGATCAAACAGTACTTATTCTTCATGCAAAAGTTGCACAGA
AGTCATATGGAAATGAAAAAAGGTTTTTTTGCCCACCTCCTTGTGTATATCTTATGGGCAGTGGATGGAAGAAAAAAAAAGAACAAATGGAACGCGATGGTTGTTCTGAACAAGAGTCTCAACCGTGT
GCATTTATTGGGATAGGAAATAGTGACCAAGAAATGCAGCAGCTAAACTTGGAAGGAAAGAACTATTGCACAGCCAAAACATTGTATATATCTGACTCAGACAAGCGAAAGCACTTCATGTTGTCTGT
AAAGATGTTCTATGGCAACAGTGATGACATTGGTGTGTTCCTCAGCAAGCGGATAAAAGTCATCTCCAAACCTTCCAAAAAGAAGCAGTCATTGAAAAATGCTGACTTATGCATTGCCTCAGGAACAA
AGGTGGCTCTGTTTAATCGACTACGATCCCAGACAGTTAGTACCAGATACTTGCATGTAGAAGGAGGTAATTTTCATGCCAGTTCACAGCAGTGGGGAGCCTTTTTTATTCATCTCTTGGATGATGAT
GAATCAGAAGGAGAAGAATTCACAGTCCGAGATGGCTACATCCATTATGGACAAACAGTCAAACTTGTGTGCTCAGTTACTGGCATGGCACTCCCAAGATTGATAATTAGGAAAGTTGATAAGCAGAC
CGCATTATTGGATGCAGATGATCCTGTGTCACAACTCCATAAATGTGCATTTTACCTTAAGGATACAGAAAGAATGTATTTGTGCCTTTCTCAAGAAAGAATAATTCAATTTCAGTTGAATGGCGGTG
GGGACGTAGCAATGCTTGAACTTACAGGACAGAATTTCACTCCAAATTTACGAGTGTGGTTTGGGGATGTAGAAGCTGAAACTATGTACAGGTGTGGAGAGAGTATGCTCTGTGTCGTCCCAGACATT
TCTGCATTCCGAGAAGGTTGGAGATGGGTCCGGCAACCAGTCCAGGTTCCAGTAACTTTGGTCCGAAATGATGGAATCATTTATTCCACCAGCCTTACCTTTACCTACACACCAGAACCAGGGCCGCG
GCCACATTGCAGTGCAGCAGGAGCAATCCTTCGAGCCAATTCAAGCCAGGTGCCCCCTAACGAATCAAACACAAACAGCGAGGGAAGTTACACAAACGCCAGCACAAATTCAACCAGTGTCACATCAT
CTACAGCCACAGTGGTATCCTAACTACCGTCTTTTTGCTAGGACTTAAACTGACTTGAGTGTGGCAAAAAGTTAACAAAAAAGGAGAAAAAATGAACAATCGTTTGTGGTTTCTTGGGAAAACTTTTC
ATACCAGGTGATACTATTCAAAAACCCCGTTGTCTCCCTGCAAGTGCTGATTTGAAATGCAGAAGCCACAGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAATCAAAATGTATAAATATTG
GAAATCAAGTTTTTCAGCTGTTTTGTTGGTTGGTTGGTTGGTTTTTGTTTGGTTTTGTTTAAATGGGCAAGAAGTAAATAATGTGGCTGGAATACAAGTTGAACAAACTAGAAGACACAAATCTAACA
TAGTTTTTATGGACCAAGGAACTTGTATATTGTATAAGCTTTAGTAAAAGGTACATTTTCACCATACCTTTTTTTATATCACGGTATTATAGTACACCTTGTTACCAAATAGGTTGTTCTCTTCCCCA
CCCACCTTTGAGCTTTTGCTCTAAAATACATTCAGGTTCCAAGCCTGACCATCCTTGTTTAATCTATCATACTCTTCCAGGTTTTTTTTTTTTGGTCTAAGGCTGGAACTTTTTTCTTTTTTTTCAGC
TGAAGTCTTATGACTTTTCATGAGTCAAAATTGTTTGGATTTCAGCAAGTCAAATCTTGCAAAGGCCTGCATATTTTTTTTAAGATTATATGAAGTCTGTGCAAAAGCTTTAAAAAAATGCCTCTGCC
TTGCCTGCAATACATGCAATGTATGTTAACTTAGTCTCTCTTCTCAGACACTGTTGGTAGTTATTTCTGTGTTTTCCTTTTTTTAAAAAAAAATATGGACTTATTGTGGTTATCTGAGAGGTTCTAAC
ATTCACATGCAATTTGGTGTGGCCATTTAGCTATTAATGAGTTAATGGCGCAGAACTTGTTGATATTTGAAGTGTTCTCTCCCCTTTTCCCATGACGTAAATACATAGGTGTGTTCCAGGATTTGTTC
AGGTTTTTCCCCCCTCCTAATCTTGTACATAACTTGTATTATGTGTAAGTTAAACATTTTATTTTGAACTTGGAATGTTCCCAGTGATTTCATTCAGCAGGGTATTTTCTGCCTTGTTGGCAAGTGAC
AAAAAATATGGGAAGTATTTGCTACCAGTTGGTAGATGGTGCCCTTAATGGTAGAATGAGGAAAATGTCCGCAAAAGCATGTTTTATTATCTTTACTTTTTTGGGGGGTTGGAGGGGGTAGCCTAGCC
AGAACATCATTGTAATCTTAAAACATAAGATGCTTTTATTAGATGATCAACTAAAATAGCTGGAAGACAGTACTTTAGAAACAGATAGTTGTAAGATTATAAAATGCAAATGTAACTTATGTTTTCAT
TTTTTTCTCTGCCTTTTTTGTTTGTTTGTTTTCTCTTTTCCAGTACTGAGCATCTCCACAAATGTCTCCTAACTCAGAAAATGTTTCTTTTCTTTTCAGTTGAGATTTGGTTGCATTCAGGGTTGTAG
GTTGGCCTTGCTTGCTAACCCCGCCGGTTTTACCGTGCTTTCATTCCTGAACTTTGTTTATGCCTTTGTTTGGTTTCTTCGAAATTGCAGCAGACTCATTGGGCTACATTTAGTACAGGAACCACGTG
TGTAATGTTATACAACACAGTCTAGTAATACAATCATCCCTCTTAGAGTAAAAACTACCTCTAGATTGTGGTAAGCTTTTACTGTCCCATAAAACAGGAGCCACAGTACCTTATGAATGCAAAACTGT
AACTTCCTACAGTGTTTCCCTACAGAACATTGTCTTTCTGGTGTCCTGGGCTGTTTTGAAAAAGTTTCCATTAATAGACTTTTTAGAAATTATTATTAGTAGCATTTTTTTTCCAGCTTTGCTGTCTT
CATCACTCACTCTATGCTCAGACTATGCCACTGTAAATATTCTTCCTAACATCTTTAAATCGCCTTTTCCTCAGTTTTCAAGGGGAAGGTCATTTGTAAAGCACGTTAGGTGGTTAAATCAGTTATTG
CGGTTTTCTCTTACTGCAAGCCTTTTTAATCACCCCCAGGCTGCATTTTATTCTATATCGCCTTTTTTCTTCAAATCTGCTCCAATCACTCACTTCTCTCTTATAAGCTAATCCTGCCTCACACCTTA
AATCTGTTTCAGTGATCAAGGGCAGAACTCATTGTGGCCTTATCTTTCTTTGTTGTAATTGTTCACTGTCTCTTTCTTACAGACCACTTATTTCTGAGTAGTAGTTATTCCTCTCTATGGAGTCATGG
CAGGAATCATTACACAGTGCTTTTGTTCAGAGCATGGACATGTTCCTAGTGCTGCTTTGCTTTAACGGCCACAAGTTTCCTCCACTTCCTAGGTTTGGTATTTAGTTAAGGAATCATATTAAATTAAC
CAATAACAAAAGAGATACTTTTGAAGAACAAACTATTCCTTACCCATTTTTGTAGCTCAAAAATAATTTTTCAAGTTCATGACCTTATTAAAATGAACTTGTGTTTTTTTAACAAACATGTATGTTTT
ATTTTGATAGTTTCTTTCCGTAAGATAATTGAAATATTATACTGTAAACCCTTTTCTTTTCTTTTTTTGAAAAGTCCAAGAATGTACTTATACAGGCATTTTTCCCCACCTATTTTTGGCCATTCTCA
TACCACAGACTAAAGAGTGAAATGATTTGTCCATTGTAGCTTATTGTTTATCAGTAGTTCTTTTGTCAGCTGCTTACATTTTTTCTTTCATGGTTTTGTGAATCATTTTCAGTATGTAATTTATAGGA
ACCTTGTCCTCTGGTTATAGTAGACTGTGTGCCCTCCTCCAGTGATGGCATTATTAGACATGCTGGTCATTTACCCTCAGAAAGACTCTCTTATTAGAATGGTGAGTGCTTCAGTTATAGTATGTTTG
AATTTTTAAAAAATTCTGTTTTAGAAATGTATCTTATGCTCTCATGACTATGCAGTTTCTAAACATACACATAGAAGCTGAGTCTCTGATCCAATATGTTTTTATTTGTTCCATTTAATTTATCACAT
AGATTGGGAAGGCAAGCTAAAAGCCTTAAAAATGCCCTTTATATTTTGAGTGATTTCAGCGTTGAACACTAGTATACTATCTAAATTTGCTGCTCACTTTCTTTAAACTGTGGCAATTAAAGGCATGT
TTATACATGACTTAATCGTGAAATGTTTGTCACTCTTACTGCACAGACTTATCTGCAATCATAACTGGTTAGTTTTTTTGTTTTGTTTTGTTTTATTGTTTTTAATGAAACTGGTACCATCTGTGCTT
TCACAAAAAACTTCCAATGCCATTTTTGAGAACTAACCTAACTAGTCATGCTAACCAGAAAATCCACTGGGGAGGAGGTTCCTTTTGAAACAAAATGCTGTTCAGTTAGTAACCAAGTTACTTTGATT
GCAAAAGCAGCTGTGTTTCTGATAAGTACTGAACAAATGTGTGTAATTTTCTGTGCCAGACTTATGACTTTGTTTTCAAGCACTGTAATGTGGGATGGATGGTTAGAAACAATAATATATTAGGGTTT
CTGTTTAACCCTTTCAGGACTGAACTGTATCTCCTTTTGTTAATTTTCCCCTGTGTTGTGATAAATGTTTGCCAGCATTCAGTACTGTGTTGGTCCAGATGTAGGTTTATATGCTCATTTTTAGCTTA
TTTCTTGTACCTTGCAGCATGCTCTACGCATTCAGTCCTTAAGGGGTTTATTTTACAAACTGTGCGCCTGTAAGGTTTATTAGCAATAAGATAGAAAATTGAGCAAGTTTATACCATAATTTTGTAGA
AAAAAAGAATCTGCTCAGTTCCATATTTCATCCGTGAAAAACTTGCAATACGAGCAGTTTCAAGGAATAAATAAAAAGGAAATGTAAACCATTGTAAAAGTCTTCTGTCGAATGTGCCTGATGCATGT
ATTATCGTCTTTTATTTCAGAATACTTCATAAAGATAAAATTAAATTCTATATTATAGTTGGTGTATTTACAATCTTACCATGTACATCACATCAAAGTGATAGCTCTACTAATTTAATTTCCTTGTC
AATGTTTTTAACTATATAGTGCTTTAAAGAGATTTTTTTTCCCTGTGTAAA

hide sequence

RefSeq Acc Id:

NM_005349 ⟹ NP_005340

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	26,319,746 - 26,435,131 (+)	NCBI
GRCh37	4	26,165,077 - 26,436,753 (+)	NCBI
Build 36	4	25,930,430 - 26,042,376 (+)	NCBI Archive
HuRef	4	25,659,979 - 25,775,063 (+)	NCBI
CHM1_1	4	26,322,549 - 26,437,875 (+)	NCBI
T2T-CHM13v2.0	4	26,304,737 - 26,420,111 (+)	NCBI

Sequence:

show sequence

GCCAATCCTGCAGCGCCTTCAACAGGTTTCGGGCGGCGAATTCCAGTTCTCCGGGTTTTGGGGC
TCCCTGCGGGAGGCAGTGCTGGATCTGGGAATCTCTAGGAAAGGAAAGAGCAAAGGAGGGGAAAGATGGGGGGCTGCAGTCTCCACGTACGTCCCTCAAAGCGCGTCCTAAAACCCGGATAACCGGAG
CGCTCCCCATGGACCACACGGAGGGCTCGCCCGCGGAGGAGCCGCCTGCGCATGCTCCATCGCCTGGGAAATTTGGTGAGCGGCCTCCACCTAAACGACTTACTAGGGAAGCTATGCGAAATTATTTA
AAAGAGCGAGGGGATCAAACAGTACTTATTCTTCATGCAAAAGTTGCACAGAAGTCATATGGAAATGAAAAAAGGTTTTTTTGCCCACCTCCTTGTGTATATCTTATGGGCAGTGGATGGAAGAAAAA
AAAAGAACAAATGGAACGCGATGGTTGTTCTGAACAAGAGTCTCAACCGTGTGCATTTATTGGGATAGGAAATAGTGACCAAGAAATGCAGCAGCTAAACTTGGAAGGAAAGAACTATTGCACAGCCA
AAACATTGTATATATCTGACTCAGACAAGCGAAAGCACTTCATGTTGTCTGTAAAGATGTTCTATGGCAACAGTGATGACATTGGTGTGTTCCTCAGCAAGCGGATAAAAGTCATCTCCAAACCTTCC
AAAAAGAAGCAGTCATTGAAAAATGCTGACTTATGCATTGCCTCAGGAACAAAGGTGGCTCTGTTTAATCGACTACGATCCCAGACAGTTAGTACCAGATACTTGCATGTAGAAGGAGGTAATTTTCA
TGCCAGTTCACAGCAGTGGGGAGCCTTTTTTATTCATCTCTTGGATGATGATGAATCAGAAGGAGAAGAATTCACAGTCCGAGATGGCTACATCCATTATGGACAAACAGTCAAACTTGTGTGCTCAG
TTACTGGCATGGCACTCCCAAGATTGATAATTAGGAAAGTTGATAAGCAGACCGCATTATTGGATGCAGATGATCCTGTGTCACAACTCCATAAATGTGCATTTTACCTTAAGGATACAGAAAGAATG
TATTTGTGCCTTTCTCAAGAAAGAATAATTCAATTTCAGGCCACTCCATGTCCAAAAGAACCAAATAAAGAGATGATAAATGATGGCGCTTCCTGGACAATCATTAGCACAGATAAGGCAGAGTATAC
ATTTTATGAGGGAATGGGCCCTGTCCTTGCCCCAGTCACTCCTGTGCCTGTGGTAGAGAGCCTTCAGTTGAATGGCGGTGGGGACGTAGCAATGCTTGAACTTACAGGACAGAATTTCACTCCAAATT
TACGAGTGTGGTTTGGGGATGTAGAAGCTGAAACTATGTACAGGTGTGGAGAGAGTATGCTCTGTGTCGTCCCAGACATTTCTGCATTCCGAGAAGGTTGGAGATGGGTCCGGCAACCAGTCCAGGTT
CCAGTAACTTTGGTCCGAAATGATGGAATCATTTATTCCACCAGCCTTACCTTTACCTACACACCAGAACCAGGGCCGCGGCCACATTGCAGTGCAGCAGGAGCAATCCTTCGAGCCAATTCAAGCCA
GGTGCCCCCTAACGAATCAAACACAAACAGCGAGGGAAGTTACACAAACGCCAGCACAAATTCAACCAGTGTCACATCATCTACAGCCACAGTGGTATCCTAACTACCGTCTTTTTGCTAGGACTTAA
ACTGACTTGAGTGTGGCAAAAAGTTAACAAAAAAGGAGAAAAAATGAACAATCGTTTGTGGTTTCTTGGGAAAACTTTTCATACCAGGTGATACTATTCAAAAACCCCGTTGTCTCCCTGCAAGTGCT
GATTTGAAATGCAGAAGCCACAGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAATCAAAATGTATAAATATTGGAAATCAAGTTTTTCAGCTGTTTTGTTGGTTGGTTGGTTGGTTTTTGT
TTGGTTTTGTTTAAATGGGCAAGAAGTAAATAATGTGGCTGGAATACAAGTTGAACAAACTAGAAGACACAAATCTAACATAGTTTTTATGGACCAAGGAACTTGTATATTGTATAAGCTTTAGTAAA
AGGTACATTTTCACCATACCTTTTTTTATATCACGGTATTATAGTACACCTTGTTACCAAATAGGTTGTTCTCTTCCCCACCCACCTTTGAGCTTTTGCTCTAAAATACATTCAGGTTCCAAGCCTGA
CCATCCTTGTTTAATCTATCATACTCTTCCAGGTTTTTTTTTTTTGGTCTAAGGCTGGAACTTTTTTCTTTTTTTTCAGCTGAAGTCTTATGACTTTTCATGAGTCAAAATTGTTTGGATTTCAGCAA
GTCAAATCTTGCAAAGGCCTGCATATTTTTTTTAAGATTATATGAAGTCTGTGCAAAAGCTTTAAAAAAATGCCTCTGCCTTGCCTGCAATACATGCAATGTATGTTAACTTAGTCTCTCTTCTCAGA
CACTGTTGGTAGTTATTTCTGTGTTTTCCTTTTTTTAAAAAAAAATATGGACTTATTGTGGTTATCTGAGAGGTTCTAACATTCACATGCAATTTGGTGTGGCCATTTAGCTATTAATGAGTTAATGG
CGCAGAACTTGTTGATATTTGAAGTGTTCTCTCCCCTTTTCCCATGACGTAAATACATAGGTGTGTTCCAGGATTTGTTCAGGTTTTTCCCCCCTCCTAATCTTGTACATAACTTGTATTATGTGTAA
GTTAAACATTTTATTTTGAACTTGGAATGTTCCCAGTGATTTCATTCAGCAGGGTATTTTCTGCCTTGTTGGCAAGTGACAAAAAATATGGGAAGTATTTGCTACCAGTTGGTAGATGGTGCCCTTAA
TGGTAGAATGAGGAAAATGTCCGCAAAAGCATGTTTTATTATCTTTACTTTTTTGGGGGGTTGGAGGGGGTAGCCTAGCCAGAACATCATTGTAATCTTAAAACATAAGATGCTTTTATTAGATGATC
AACTAAAATAGCTGGAAGACAGTACTTTAGAAACAGATAGTTGTAAGATTATAAAATGCAAATGTAACTTATGTTTTCATTTTTTTCTCTGCCTTTTTTGTTTGTTTGTTTTCTCTTTTCCAGTACTG
AGCATCTCCACAAATGTCTCCTAACTCAGAAAATGTTTCTTTTCTTTTCAGTTGAGATTTGGTTGCATTCAGGGTTGTAGGTTGGCCTTGCTTGCTAACCCCGCCGGTTTTACCGTGCTTTCATTCCT
GAACTTTGTTTATGCCTTTGTTTGGTTTCTTCGAAATTGCAGCAGACTCATTGGGCTACATTTAGTACAGGAACCACGTGTGTAATGTTATACAACACAGTCTAGTAATACAATCATCCCTCTTAGAG
TAAAAACTACCTCTAGATTGTGGTAAGCTTTTACTGTCCCATAAAACAGGAGCCACAGTACCTTATGAATGCAAAACTGTAACTTCCTACAGTGTTTCCCTACAGAACATTGTCTTTCTGGTGTCCTG
GGCTGTTTTGAAAAAGTTTCCATTAATAGACTTTTTAGAAATTATTATTAGTAGCATTTTTTTTCCAGCTTTGCTGTCTTCATCACTCACTCTATGCTCAGACTATGCCACTGTAAATATTCTTCCTA
ACATCTTTAAATCGCCTTTTCCTCAGTTTTCAAGGGGAAGGTCATTTGTAAAGCACGTTAGGTGGTTAAATCAGTTATTGCGGTTTTCTCTTACTGCAAGCCTTTTTAATCACCCCCAGGCTGCATTT
TATTCTATATCGCCTTTTTTCTTCAAATCTGCTCCAATCACTCACTTCTCTCTTATAAGCTAATCCTGCCTCACACCTTAAATCTGTTTCAGTGATCAAGGGCAGAACTCATTGTGGCCTTATCTTTC
TTTGTTGTAATTGTTCACTGTCTCTTTCTTACAGACCACTTATTTCTGAGTAGTAGTTATTCCTCTCTATGGAGTCATGGCAGGAATCATTACACAGTGCTTTTGTTCAGAGCATGGACATGTTCCTA
GTGCTGCTTTGCTTTAACGGCCACAAGTTTCCTCCACTTCCTAGGTTTGGTATTTAGTTAAGGAATCATATTAAATTAACCAATAACAAAAGAGATACTTTTGAAGAACAAACTATTCCTTACCCATT
TTTGTAGCTCAAAAATAATTTTTCAAGTTCATGACCTTATTAAAATGAACTTGTGTTTTTTTAACAAACATGTATGTTTTATTTTGATAGTTTCTTTCCGTAAGATAATTGAAATATTATACTGTAAA
CCCTTTTCTTTTCTTTTTTTGAAAAGTCCAAGAATGTACTTATACAGGCATTTTTCCCCACCTATTTTTGGCCATTCTCATACCACAGACTAAAGAGTGAAATGATTTGTCCATTGTAGCTTATTGTT
TATCAGTAGTTCTTTTGTCAGCTGCTTACATTTTTTCTTTCATGGTTTTGTGAATCATTTTCAGTATGTAATTTATAGGAACCTTGTCCTCTGGTTATAGTAGACTGTGTGCCCTCCTCCAGTGATGG
CATTATTAGACATGCTGGTCATTTACCCTCAGAAAGACTCTCTTATTAGAATGGTGAGTGCTTCAGTTATAGTATGTTTGAATTTTTAAAAAATTCTGTTTTAGAAATGTATCTTATGCTCTCATGAC
TATGCAGTTTCTAAACATACACATAGAAGCTGAGTCTCTGATCCAATATGTTTTTATTTGTTCCATTTAATTTATCACATAGATTGGGAAGGCAAGCTAAAAGCCTTAAAAATGCCCTTTATATTTTG
AGTGATTTCAGCGTTGAACACTAGTATACTATCTAAATTTGCTGCTCACTTTCTTTAAACTGTGGCAATTAAAGGCATGTTTATACATGACTTAATCGTGAAATGTTTGTCACTCTTACTGCACAGAC
TTATCTGCAATCATAACTGGTTAGTTTTTTTGTTTTGTTTTGTTTTATTGTTTTTAATGAAACTGGTACCATCTGTGCTTTCACAAAAAACTTCCAATGCCATTTTTGAGAACTAACCTAACTAGTCA
TGCTAACCAGAAAATCCACTGGGGAGGAGGTTCCTTTTGAAACAAAATGCTGTTCAGTTAGTAACCAAGTTACTTTGATTGCAAAAGCAGCTGTGTTTCTGATAAGTACTGAACAAATGTGTGTAATT
TTCTGTGCCAGACTTATGACTTTGTTTTCAAGCACTGTAATGTGGGATGGATGGTTAGAAACAATAATATATTAGGGTTTCTGTTTAACCCTTTCAGGACTGAACTGTATCTCCTTTTGTTAATTTTC
CCCTGTGTTGTGATAAATGTTTGCCAGCATTCAGTACTGTGTTGGTCCAGATGTAGGTTTATATGCTCATTTTTAGCTTATTTCTTGTACCTTGCAGCATGCTCTACGCATTCAGTCCTTAAGGGGTT
TATTTTACAAACTGTGCGCCTGTAAGGTTTATTAGCAATAAGATAGAAAATTGAGCAAGTTTATACCATAATTTTGTAGAAAAAAAGAATCTGCTCAGTTCCATATTTCATCCGTGAAAAACTTGCAA
TACGAGCAGTTTCAAGGAATAAATAAAAAGGAAATGTAAACCATTGTAAAAGTCTTCTGTCGAATGTGCCTGATGCATGTATTATCGTCTTTTATTTCAGAATACTTCATAAAGATAAAATTAAATTC
TATATTATAGTTGGTGTATTTACAATCTTACCATGTACATCACATCAAAGTGATAGCTCTACTAATTTAATTTCCTTGTCAATGTTTTTAACTATATAGTGCTTTAAAGAGATTTTTTTTCCCTGTGT
AAA

hide sequence

RefSeq Acc Id:

NM_015874 ⟹ NP_056958

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	26,321,014 - 26,434,923 (+)	NCBI
GRCh37	4	26,165,077 - 26,436,753 (+)	NCBI
Build 36	4	25,931,546 - 26,042,376 (+)	NCBI Archive
HuRef	4	25,659,979 - 25,775,063 (+)	NCBI
CHM1_1	4	26,323,646 - 26,437,875 (+)	NCBI
T2T-CHM13v2.0	4	26,306,005 - 26,419,903 (+)	NCBI

Sequence:

show sequence

GAGAGTTTGTGGAAGATGGCGCCTGTTGTGACAGGGAAATTTGGTGAGCGGCCTCCACCTAAAC
GACTTACTAGGGAAGCTATGCGAAATTATTTAAAAGAGCGAGGGGATCAAACAGTACTTATTCTTCATGCAAAAGTTGCACAGAAGTCATATGGAAATGAAAAAAGGTTTTTTTGCCCACCTCCTTGT
GTATATCTTATGGGCAGTGGATGGAAGAAAAAAAAAGAACAAATGGAACGCGATGGTTGTTCTGAACAAGAGTCTCAACCGTGTGCATTTATTGGGATAGGAAATAGTGACCAAGAAATGCAGCAGCT
AAACTTGGAAGGAAAGAACTATTGCACAGCCAAAACATTGTATATATCTGACTCAGACAAGCGAAAGCACTTCATGTTGTCTGTAAAGATGTTCTATGGCAACAGTGATGACATTGGTGTGTTCCTCA
GCAAGCGGATAAAAGTCATCTCCAAACCTTCCAAAAAGAAGCAGTCATTGAAAAATGCTGACTTATGCATTGCCTCAGGAACAAAGGTGGCTCTGTTTAATCGACTACGATCCCAGACAGTTAGTACC
AGATACTTGCATGTAGAAGGAGGTAATTTTCATGCCAGTTCACAGCAGTGGGGAGCCTTTTTTATTCATCTCTTGGATGATGATGAATCAGAAGGAGAAGAATTCACAGTCCGAGATGGCTACATCCA
TTATGGACAAACAGTCAAACTTGTGTGCTCAGTTACTGGCATGGCACTCCCAAGATTGATAATTAGGAAAGTTGATAAGCAGACCGCATTATTGGATGCAGATGATCCTGTGTCACAACTCCATAAAT
GTGCATTTTACCTTAAGGATACAGAAAGAATGTATTTGTGCCTTTCTCAAGAAAGAATAATTCAATTTCAGGCCACTCCATGTCCAAAAGAACCAAATAAAGAGATGATAAATGATGGCGCTTCCTGG
ACAATCATTAGCACAGATAAGGCAGAGTATACATTTTATGAGGGAATGGGCCCTGTCCTTGCCCCAGTCACTCCTGTGCCTGTGGTAGAGAGCCTTCAGTTGAATGGCGGTGGGGACGTAGCAATGCT
TGAACTTACAGGACAGAATTTCACTCCAAATTTACGAGTGTGGTTTGGGGATGTAGAAGCTGAAACTATGTACAGGTGTGGAGAGAGTATGCTCTGTGTCGTCCCAGACATTTCTGCATTCCGAGAAG
GTTGGAGATGGGTCCGGCAACCAGTCCAGGTTCCAGTAACTTTGGTCCGAAATGATGGAATCATTTATTCCACCAGCCTTACCTTTACCTACACACCAGAACCAGGGCCGCGGCCACATTGCAGTGCA
GCAGGAGCAATCCTTCGAGCCAATTCAAGCCAGGTGCCCCCTAACGAATCAAACACAAACAGCGAGGGAAGTTACACAAACGCCAGCACAAATTCAACCAGTGTCACATCATCTACAGCCACAGTGGT
ATCCTAACTACCGTCTTTTTGCTAGGACTTAAACTGACTTGAGTGTGGCAAAAAGTTAACAAAAAAGGAGAAAAAATGAACAATCGTTTGTGGTTTCTTGGGAAAACTTTTCATACCAGGTGATACTA
TTCAAAAACCCCGTTGTCTCCCTGCAAGTGCTGATTTGAAATGCAGAAGCCACAGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAATCAAAATGTATAAATATTGGAAATCAAGTTTTTCA
GCTGTTTTGTTGGTTGGTTGGTTGGTTTTTGTTTGGTTTTGTTTAAATGGGCAAGAAGTAAATAATGTGGCTGGAATACAAGTTGAACAAACTAGAAGACACAAATCTAACATAGTTTTTATGGACCA
AGGAACTTGTATATTGTATAAGCTTTAGTAAAAGGTACATTTTCACCATACCTTTTTTTATATCACGGTATTATAGTACACCTTGTTACCAAATAGGTTGTTCTCTTCCCCACCCACCTTTGAGCTTT
TGCTCTAAAATACATTCAGGTTCCAAGCCTGACCATCCTTGTTTAATCTATCATACTCTTCCAGGTTTTTTTTTTTTGGTCTAAGGCTGGAACTTTTTTCTTTTTTTTCAGCTGAAGTCTTATGACTT
TTCATGAGTCAAAATTGTTTGGATTTCAGCAAGTCAAATCTTGCAAAGGCCTGCATATTTTTTTTAAGATTATATGAAGTCTGTGCAAAAGCTTTAAAAAAATGCCTCTGCCTTGCCTGCAATACATG
CAATGTATGTTAACTTAGTCTCTCTTCTCAGACACTGTTGGTAGTTATTTCTGTGTTTTCCTTTTTTTAAAAAAAAATATGGACTTATTGTGGTTATCTGAGAGGTTCTAACATTCACATGCAATTTG
GTGTGGCCATTTAGCTATTAATGAGTTAATGGCGCAGAACTTGTTGATATTTGAAGTGTTCTCTCCCCTTTTCCCATGACGTAAATACATAGGTGTGTTCCAGGATTTGTTCAGGTTTTTCCCCCCTC
CTAATCTTGTACATAACTTGTATTATGTGTAAGTTAAACATTTTATTTTGAACTTGGAATGTTCCCAGTGATTTCATTCAGCAGGGTATTTTCTGCCTTGTTGGCAAGTGACAAAAAATATGGGAAGT
ATTTGCTACCAGTTGGTAGATGGTGCCCTTAATGGTAGAATGAGGAAAATGTCCGCAAAAGCATGTTTTATTATCTTTACTTTTTTGGGGGGTTGGAGGGGGTAGCCTAGCCAGAACATCATTGTAAT
CTTAAAACATAAGATGCTTTTATTAGATGATCAACTAAAATAGCTGGAAGACAGTACTTTAGAAACAGATAGTTGTAAGATTATAAAATGCAAATGTAACTTATGTTTTCATTTTTTTCTCTGCCTTT
TTTGTTTGTTTGTTTTCTCTTTTCCAGTACTGAGCATCTCCACAAATGTCTCCTAACTCAGAAAATGTTTCTTTTCTTTTCAGTTGAGATTTGGTTGCATTCAGGGTTGTAGGTTGGCCTTGCTTGCT
AACCCCGCCGGTTTTACCGTGCTTTCATTCCTGAACTTTGTTTATGCCTTTGTTTGGTTTCTTCGAAATTGCAGCAGACTCATTGGGCTACATTTAGTACAGGAACCACGTGTGTAATGTTATACAAC
ACAGTCTAGTAATACAATCATCCCTCTTAGAGTAAAAACTACCTCTAGATTGTGGTAAGCTTTTACTGTCCCATAAAACAGGAGCCACAGTACCTTATGAATGCAAAACTGTAACTTCCTACAGTGTT
TCCCTACAGAACATTGTCTTTCTGGTGTCCTGGGCTGTTTTGAAAAAGTTTCCATTAATAGACTTTTTAGAAATTATTATTAGTAGCATTTTTTTTCCAGCTTTGCTGTCTTCATCACTCACTCTATG
CTCAGACTATGCCACTGTAAATATTCTTCCTAACATCTTTAAATCGCCTTTTCCTCAGTTTTCAAGGGGAAGGTCATTTGTAAAGCACGTTAGGTGGTTAAATCAGTTATTGCGGTTTTCTCTTACTG
CAAGCCTTTTTAATCACCCCCAGGCTGCATTTTATTCTATATCGCCTTTTTTCTTCAAATCTGCTCCAATCACTCACTTCTCTCTTATAAGCTAATCCTGCCTCACACCTTAAATCTGTTTCAGTGAT
CAAGGGCAGAACTCATTGTGGCCTTATCTTTCTTTGTTGTAATTGTTCACTGTCTCTTTCTTACAGACCACTTATTTCTGAGTAGTAGTTATTCCTCTCTATGGAGTCATGGCAGGAATCATTACACA
GTGCTTTTGTTCAGAGCATGGACATGTTCCTAGTGCTGCTTTGCTTTAACGGCCACAAGTTTCCTCCACTTCCTAGGTTTGGTATTTAGTTAAGGAATCATATTAAATTAACCAATAACAAAAGAGAT
ACTTTTGAAGAACAAACTATTCCTTACCCATTTTTGTAGCTCAAAAATAATTTTTCAAGTTCATGACCTTATTAAAATGAACTTGTGTTTTTTTAACAAACATGTATGTTTTATTTTGATAGTTTCTT
TCCGTAAGATAATTGAAATATTATACTGTAAACCCTTTTCTTTTCTTTTTTTGAAAAGTCCAAGAATGTACTTATACAGGCATTTTTCCCCACCTATTTTTGGCCATTCTCATACCACAGACTAAAGA
GTGAAATGATTTGTCCATTGTAGCTTATTGTTTATCAGTAGTTCTTTTGTCAGCTGCTTACATTTTTTCTTTCATGGTTTTGTGAATCATTTTCAGTATGTAATTTATAGGAACCTTGTCCTCTGGTT
ATAGTAGACTGTGTGCCCTCCTCCAGTGATGGCATTATTAGACATGCTGGTCATTTACCCTCAGAAAGACTCTCTTATTAGAATGGTGAGTGCTTCAGTTATAGTATGTTTGAATTTTTAAAAAATTC
TGTTTTAGAAATGTATCTTATGCTCTCATGACTATGCAGTTTCTAAACATACACATAGAAGCTGAGTCTCTGATCCAATATGTTTTTATTTGTTCCATTTAATTTATCACATAGATTGGGAAGGCAAG
CTAAAAGCCTTAAAAATGCCCTTTATATTTTGAGTGATTTCAGCGTTGAACACTAGTATACTATCTAAATTTGCTGCTCACTTTCTTTAAACTGTGGCAATTAAAGGCATGTTTATACATGACTTAAT
CGTGAAATGTTTGTCACTCTTACTGCACAGACTTATCTGCAATCATAACTGGTTAGTTTTTTTGTTTTGTTTTGTTTTATTGTTTTTAATGAAACTGGTACCATCTGTGCTTTCACAAAAAACTTCCA
ATGCCATTTTTGAGAACTAACCTAACTAGTCATGCTAACCAGAAAATCCACTGGGGAGGAGGTTCCTTTTGAAACAAAATGCTGTTCAGTTAGTAACCAAGTTACTTTGATTGCAAAAGCAGCTGTGT
TTCTGATAAGTACTGAACAAATGTGTGTAATTTTCTGTGCCAGACTTATGACTTTGTTTTCAAGCACTGTAATGTGGGATGGATGGTTAGAAACAATAATATATTAGGGTTTCTGTTTAACCCTTTCA
GGACTGAACTGTATCTCCTTTTGTTAATTTTCCCCTGTGTTGTGATAAATGTTTGCCAGCATTCAGTACTGTGTTGGTCCAGATGTAGGTTTATATGCTCATTTTTAGCTTATTTCTTGTACCTTGCA
GCATGCTCTACGCATTCAGTCCTTAAGGGGTTTATTTTACAAACTGTGCGCCTGTAAGGTTTATTAGCAATAAGATAGAAAATTGAGCAAGTTTATACCATAATTTTGTAGAAAAAAAGAATCTGCTC
AGTTCCATATTTCATCCGTGAAAAACTTGCAATACGAGCAGTTTCAAGGAATAAATAAAAAGGAAATGTAAACCATTGTAAAA

hide sequence

RefSeq Acc Id:

NM_203283 ⟹ NP_976028

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	26,319,746 - 26,435,131 (+)	NCBI
GRCh37	4	26,165,077 - 26,436,753 (+)	NCBI
Build 36	4	25,930,430 - 26,042,376 (+)	NCBI Archive
HuRef	4	25,659,979 - 25,775,063 (+)	NCBI
CHM1_1	4	26,322,549 - 26,437,875 (+)	NCBI
T2T-CHM13v2.0	4	26,304,737 - 26,420,111 (+)	NCBI

Sequence:

show sequence

GCCAATCCTGCAGCGCCTTCAACAGGTTTCGGGCGGCGAATTCCAGTTCTCCGGGTTTTGGGGCTCCCTGCGGGAGGCAGTGCTGGATCTGGGAATCTCTAGGAAAGGAAAGAGCAAAGGAGGGGAAA
GATGGGGGGCTGCAGGAAATTTGGTGAGCGGCCTCCACCTAAACGACTTACTAGGGAAGCTATGCGAAATTATTTAAAAGAGCGAGGGGATCAAACAGTACTTATTCTTCATGCAAAAGTTGCACAGA
AGTCATATGGAAATGAAAAAAGGTTTTTTTGCCCACCTCCTTGTGTATATCTTATGGGCAGTGGATGGAAGAAAAAAAAAGAACAAATGGAACGCGATGGTTGTTCTGAACAAGAGTCTCAACCGTGT
GCATTTATTGGGATAGGAAATAGTGACCAAGAAATGCAGCAGCTAAACTTGGAAGGAAAGAACTATTGCACAGCCAAAACATTGTATATATCTGACTCAGACAAGCGAAAGCACTTCATGTTGTCTGT
AAAGATGTTCTATGGCAACAGTGATGACATTGGTGTGTTCCTCAGCAAGCGGATAAAAGTCATCTCCAAACCTTCCAAAAAGAAGCAGTCATTGAAAAATGCTGACTTATGCATTGCCTCAGGAACAA
AGGTGGCTCTGTTTAATCGACTACGATCCCAGACAGTTAGTACCAGATACTTGCATGTAGAAGGAGGTAATTTTCATGCCAGTTCACAGCAGTGGGGAGCCTTTTTTATTCATCTCTTGGATGATGAT
GAATCAGAAGGAGAAGAATTCACAGTCCGAGATGGCTACATCCATTATGGACAAACAGTCAAACTTGTGTGCTCAGTTACTGGCATGGCACTCCCAAGATTGATAATTAGGAAAGTTGATAAGCAGAC
CGCATTATTGGATGCAGATGATCCTGTGTCACAACTCCATAAATGTGCATTTTACCTTAAGGATACAGAAAGAATGTATTTGTGCCTTTCTCAAGAAAGAATAATTCAATTTCAGGCCACTCCATGTC
CAAAAGAACCAAATAAAGAGATGATAAATGATGGCGCTTCCTGGACAATCATTAGCACAGATAAGGCAGAGTATACATTTTATGAGGGAATGGGCCCTGTCCTTGCCCCAGTCACTCCTGTGCCTGTG
GTAGAGAGCCTTCAGTTGAATGGCGGTGGGGACGTAGCAATGCTTGAACTTACAGGACAGAATTTCACTCCAAATTTACGAGTGTGGTTTGGGGATGTAGAAGCTGAAACTATGTACAGGTGTGGAGA
GAGTATGCTCTGTGTCGTCCCAGACATTTCTGCATTCCGAGAAGGTTGGAGATGGGTCCGGCAACCAGTCCAGGTTCCAGTAACTTTGGTCCGAAATGATGGAATCATTTATTCCACCAGCCTTACCT
TTACCTACACACCAGAACCAGGGCCGCGGCCACATTGCAGTGCAGCAGGAGCAATCCTTCGAGCCAATTCAAGCCAGGTGCCCCCTAACGAATCAAACACAAACAGCGAGGGAAGTTACACAAACGCC
AGCACAAATTCAACCAGTGTCACATCATCTACAGCCACAGTGGTATCCTAACTACCGTCTTTTTGCTAGGACTTAAACTGACTTGAGTGTGGCAAAAAGTTAACAAAAAAGGAGAAAAAATGAACAAT
CGTTTGTGGTTTCTTGGGAAAACTTTTCATACCAGGTGATACTATTCAAAAACCCCGTTGTCTCCCTGCAAGTGCTGATTTGAAATGCAGAAGCCACAGTAAAAAAAAAAAAAAAAAAAAAAAAAAAG
AAAAAAAAATCAAAATGTATAAATATTGGAAATCAAGTTTTTCAGCTGTTTTGTTGGTTGGTTGGTTGGTTTTTGTTTGGTTTTGTTTAAATGGGCAAGAAGTAAATAATGTGGCTGGAATACAAGTT
GAACAAACTAGAAGACACAAATCTAACATAGTTTTTATGGACCAAGGAACTTGTATATTGTATAAGCTTTAGTAAAAGGTACATTTTCACCATACCTTTTTTTATATCACGGTATTATAGTACACCTT
GTTACCAAATAGGTTGTTCTCTTCCCCACCCACCTTTGAGCTTTTGCTCTAAAATACATTCAGGTTCCAAGCCTGACCATCCTTGTTTAATCTATCATACTCTTCCAGGTTTTTTTTTTTTGGTCTAA
GGCTGGAACTTTTTTCTTTTTTTTCAGCTGAAGTCTTATGACTTTTCATGAGTCAAAATTGTTTGGATTTCAGCAAGTCAAATCTTGCAAAGGCCTGCATATTTTTTTTAAGATTATATGAAGTCTGT
GCAAAAGCTTTAAAAAAATGCCTCTGCCTTGCCTGCAATACATGCAATGTATGTTAACTTAGTCTCTCTTCTCAGACACTGTTGGTAGTTATTTCTGTGTTTTCCTTTTTTTAAAAAAAAATATGGAC
TTATTGTGGTTATCTGAGAGGTTCTAACATTCACATGCAATTTGGTGTGGCCATTTAGCTATTAATGAGTTAATGGCGCAGAACTTGTTGATATTTGAAGTGTTCTCTCCCCTTTTCCCATGACGTAA
ATACATAGGTGTGTTCCAGGATTTGTTCAGGTTTTTCCCCCCTCCTAATCTTGTACATAACTTGTATTATGTGTAAGTTAAACATTTTATTTTGAACTTGGAATGTTCCCAGTGATTTCATTCAGCAG
GGTATTTTCTGCCTTGTTGGCAAGTGACAAAAAATATGGGAAGTATTTGCTACCAGTTGGTAGATGGTGCCCTTAATGGTAGAATGAGGAAAATGTCCGCAAAAGCATGTTTTATTATCTTTACTTTT
TTGGGGGGTTGGAGGGGGTAGCCTAGCCAGAACATCATTGTAATCTTAAAACATAAGATGCTTTTATTAGATGATCAACTAAAATAGCTGGAAGACAGTACTTTAGAAACAGATAGTTGTAAGATTAT
AAAATGCAAATGTAACTTATGTTTTCATTTTTTTCTCTGCCTTTTTTGTTTGTTTGTTTTCTCTTTTCCAGTACTGAGCATCTCCACAAATGTCTCCTAACTCAGAAAATGTTTCTTTTCTTTTCAGT
TGAGATTTGGTTGCATTCAGGGTTGTAGGTTGGCCTTGCTTGCTAACCCCGCCGGTTTTACCGTGCTTTCATTCCTGAACTTTGTTTATGCCTTTGTTTGGTTTCTTCGAAATTGCAGCAGACTCATT
GGGCTACATTTAGTACAGGAACCACGTGTGTAATGTTATACAACACAGTCTAGTAATACAATCATCCCTCTTAGAGTAAAAACTACCTCTAGATTGTGGTAAGCTTTTACTGTCCCATAAAACAGGAG
CCACAGTACCTTATGAATGCAAAACTGTAACTTCCTACAGTGTTTCCCTACAGAACATTGTCTTTCTGGTGTCCTGGGCTGTTTTGAAAAAGTTTCCATTAATAGACTTTTTAGAAATTATTATTAGT
AGCATTTTTTTTCCAGCTTTGCTGTCTTCATCACTCACTCTATGCTCAGACTATGCCACTGTAAATATTCTTCCTAACATCTTTAAATCGCCTTTTCCTCAGTTTTCAAGGGGAAGGTCATTTGTAAA
GCACGTTAGGTGGTTAAATCAGTTATTGCGGTTTTCTCTTACTGCAAGCCTTTTTAATCACCCCCAGGCTGCATTTTATTCTATATCGCCTTTTTTCTTCAAATCTGCTCCAATCACTCACTTCTCTC
TTATAAGCTAATCCTGCCTCACACCTTAAATCTGTTTCAGTGATCAAGGGCAGAACTCATTGTGGCCTTATCTTTCTTTGTTGTAATTGTTCACTGTCTCTTTCTTACAGACCACTTATTTCTGAGTA
GTAGTTATTCCTCTCTATGGAGTCATGGCAGGAATCATTACACAGTGCTTTTGTTCAGAGCATGGACATGTTCCTAGTGCTGCTTTGCTTTAACGGCCACAAGTTTCCTCCACTTCCTAGGTTTGGTA
TTTAGTTAAGGAATCATATTAAATTAACCAATAACAAAAGAGATACTTTTGAAGAACAAACTATTCCTTACCCATTTTTGTAGCTCAAAAATAATTTTTCAAGTTCATGACCTTATTAAAATGAACTT
GTGTTTTTTTAACAAACATGTATGTTTTATTTTGATAGTTTCTTTCCGTAAGATAATTGAAATATTATACTGTAAACCCTTTTCTTTTCTTTTTTTGAAAAGTCCAAGAATGTACTTATACAGGCATT
TTTCCCCACCTATTTTTGGCCATTCTCATACCACAGACTAAAGAGTGAAATGATTTGTCCATTGTAGCTTATTGTTTATCAGTAGTTCTTTTGTCAGCTGCTTACATTTTTTCTTTCATGGTTTTGTG
AATCATTTTCAGTATGTAATTTATAGGAACCTTGTCCTCTGGTTATAGTAGACTGTGTGCCCTCCTCCAGTGATGGCATTATTAGACATGCTGGTCATTTACCCTCAGAAAGACTCTCTTATTAGAAT
GGTGAGTGCTTCAGTTATAGTATGTTTGAATTTTTAAAAAATTCTGTTTTAGAAATGTATCTTATGCTCTCATGACTATGCAGTTTCTAAACATACACATAGAAGCTGAGTCTCTGATCCAATATGTT
TTTATTTGTTCCATTTAATTTATCACATAGATTGGGAAGGCAAGCTAAAAGCCTTAAAAATGCCCTTTATATTTTGAGTGATTTCAGCGTTGAACACTAGTATACTATCTAAATTTGCTGCTCACTTT
CTTTAAACTGTGGCAATTAAAGGCATGTTTATACATGACTTAATCGTGAAATGTTTGTCACTCTTACTGCACAGACTTATCTGCAATCATAACTGGTTAGTTTTTTTGTTTTGTTTTGTTTTATTGTT
TTTAATGAAACTGGTACCATCTGTGCTTTCACAAAAAACTTCCAATGCCATTTTTGAGAACTAACCTAACTAGTCATGCTAACCAGAAAATCCACTGGGGAGGAGGTTCCTTTTGAAACAAAATGCTG
TTCAGTTAGTAACCAAGTTACTTTGATTGCAAAAGCAGCTGTGTTTCTGATAAGTACTGAACAAATGTGTGTAATTTTCTGTGCCAGACTTATGACTTTGTTTTCAAGCACTGTAATGTGGGATGGAT
GGTTAGAAACAATAATATATTAGGGTTTCTGTTTAACCCTTTCAGGACTGAACTGTATCTCCTTTTGTTAATTTTCCCCTGTGTTGTGATAAATGTTTGCCAGCATTCAGTACTGTGTTGGTCCAGAT
GTAGGTTTATATGCTCATTTTTAGCTTATTTCTTGTACCTTGCAGCATGCTCTACGCATTCAGTCCTTAAGGGGTTTATTTTACAAACTGTGCGCCTGTAAGGTTTATTAGCAATAAGATAGAAAATT
GAGCAAGTTTATACCATAATTTTGTAGAAAAAAAGAATCTGCTCAGTTCCATATTTCATCCGTGAAAAACTTGCAATACGAGCAGTTTCAAGGAATAAATAAAAAGGAAATGTAAACCATTGTAAAAG
TCTTCTGTCGAATGTGCCTGATGCATGTATTATCGTCTTTTATTTCAGAATACTTCATAAAGATAAAATTAAATTCTATATTATAGTTGGTGTATTTACAATCTTACCATGTACATCACATCAAAGTG
ATAGCTCTACTAATTTAATTTCCTTGTCAATGTTTTTAACTATATAGTGCTTTAAAGAGATTTTTTTTCCCTGTGTAAA

hide sequence

RefSeq Acc Id:

NM_203284 ⟹ NP_976029

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	26,321,014 - 26,435,131 (+)	NCBI
GRCh37	4	26,165,077 - 26,436,753 (+)	NCBI
Build 36	4	25,931,546 - 26,042,376 (+)	NCBI Archive
HuRef	4	25,659,979 - 25,775,063 (+)	NCBI
CHM1_1	4	26,323,646 - 26,437,875 (+)	NCBI
T2T-CHM13v2.0	4	26,306,005 - 26,420,111 (+)	NCBI

Sequence:

show sequence

GAGAGTTTGTGGAAGATGGCGCCTGTTGTGACAGGTCATTGAAATTATGAGACTATCATTCAAATGGAAGCATTATAGTTCTTCGGAACCATTATGATCTCAAAACGAAAGGAGAATGATACAGATAC
ACTGGCTGAGGTGTTTTGAGGTGCATCGAAGTGTTCCAAGCTGTGACTTACCTTAACATGTTCTTGAAGTACCATGGCGTGGATTAAAAGGAAATTTGGTGAGCGGCCTCCACCTAAACGACTTACTA
GGGAAGCTATGCGAAATTATTTAAAAGAGCGAGGGGATCAAACAGTACTTATTCTTCATGCAAAAGTTGCACAGAAGTCATATGGAAATGAAAAAAGGTTTTTTTGCCCACCTCCTTGTGTATATCTT
ATGGGCAGTGGATGGAAGAAAAAAAAAGAACAAATGGAACGCGATGGTTGTTCTGAACAAGAGTCTCAACCGTGTGCATTTATTGGGATAGGAAATAGTGACCAAGAAATGCAGCAGCTAAACTTGGA
AGGAAAGAACTATTGCACAGCCAAAACATTGTATATATCTGACTCAGACAAGCGAAAGCACTTCATGTTGTCTGTAAAGATGTTCTATGGCAACAGTGATGACATTGGTGTGTTCCTCAGCAAGCGGA
TAAAAGTCATCTCCAAACCTTCCAAAAAGAAGCAGTCATTGAAAAATGCTGACTTATGCATTGCCTCAGGAACAAAGGTGGCTCTGTTTAATCGACTACGATCCCAGACAGTTAGTACCAGATACTTG
CATGTAGAAGGAGGTAATTTTCATGCCAGTTCACAGCAGTGGGGAGCCTTTTTTATTCATCTCTTGGATGATGATGAATCAGAAGGAGAAGAATTCACAGTCCGAGATGGCTACATCCATTATGGACA
AACAGTCAAACTTGTGTGCTCAGTTACTGGCATGGCACTCCCAAGATTGATAATTAGGAAAGTTGATAAGCAGACCGCATTATTGGATGCAGATGATCCTGTGTCACAACTCCATAAATGTGCATTTT
ACCTTAAGGATACAGAAAGAATGTATTTGTGCCTTTCTCAAGAAAGAATAATTCAATTTCAGGCCACTCCATGTCCAAAAGAACCAAATAAAGAGATGATAAATGATGGCGCTTCCTGGACAATCATT
AGCACAGATAAGGCAGAGTATACATTTTATGAGGGAATGGGCCCTGTCCTTGCCCCAGTCACTCCTGTGCCTGTGGTAGAGAGCCTTCAGTTGAATGGCGGTGGGGACGTAGCAATGCTTGAACTTAC
AGGACAGAATTTCACTCCAAATTTACGAGTGTGGTTTGGGGATGTAGAAGCTGAAACTATGTACAGGTGTGGAGAGAGTATGCTCTGTGTCGTCCCAGACATTTCTGCATTCCGAGAAGGTTGGAGAT
GGGTCCGGCAACCAGTCCAGGTTCCAGTAACTTTGGTCCGAAATGATGGAATCATTTATTCCACCAGCCTTACCTTTACCTACACACCAGAACCAGGGCCGCGGCCACATTGCAGTGCAGCAGGAGCA
ATCCTTCGAGCCAATTCAAGCCAGGTGCCCCCTAACGAATCAAACACAAACAGCGAGGGAAGTTACACAAACGCCAGCACAAATTCAACCAGTGTCACATCATCTACAGCCACAGTGGTATCCTAACT
ACCGTCTTTTTGCTAGGACTTAAACTGACTTGAGTGTGGCAAAAAGTTAACAAAAAAGGAGAAAAAATGAACAATCGTTTGTGGTTTCTTGGGAAAACTTTTCATACCAGGTGATACTATTCAAAAAC
CCCGTTGTCTCCCTGCAAGTGCTGATTTGAAATGCAGAAGCCACAGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAATCAAAATGTATAAATATTGGAAATCAAGTTTTTCAGCTGTTTTG
TTGGTTGGTTGGTTGGTTTTTGTTTGGTTTTGTTTAAATGGGCAAGAAGTAAATAATGTGGCTGGAATACAAGTTGAACAAACTAGAAGACACAAATCTAACATAGTTTTTATGGACCAAGGAACTTG
TATATTGTATAAGCTTTAGTAAAAGGTACATTTTCACCATACCTTTTTTTATATCACGGTATTATAGTACACCTTGTTACCAAATAGGTTGTTCTCTTCCCCACCCACCTTTGAGCTTTTGCTCTAAA
ATACATTCAGGTTCCAAGCCTGACCATCCTTGTTTAATCTATCATACTCTTCCAGGTTTTTTTTTTTTGGTCTAAGGCTGGAACTTTTTTCTTTTTTTTCAGCTGAAGTCTTATGACTTTTCATGAGT
CAAAATTGTTTGGATTTCAGCAAGTCAAATCTTGCAAAGGCCTGCATATTTTTTTTAAGATTATATGAAGTCTGTGCAAAAGCTTTAAAAAAATGCCTCTGCCTTGCCTGCAATACATGCAATGTATG
TTAACTTAGTCTCTCTTCTCAGACACTGTTGGTAGTTATTTCTGTGTTTTCCTTTTTTTAAAAAAAAATATGGACTTATTGTGGTTATCTGAGAGGTTCTAACATTCACATGCAATTTGGTGTGGCCA
TTTAGCTATTAATGAGTTAATGGCGCAGAACTTGTTGATATTTGAAGTGTTCTCTCCCCTTTTCCCATGACGTAAATACATAGGTGTGTTCCAGGATTTGTTCAGGTTTTTCCCCCCTCCTAATCTTG
TACATAACTTGTATTATGTGTAAGTTAAACATTTTATTTTGAACTTGGAATGTTCCCAGTGATTTCATTCAGCAGGGTATTTTCTGCCTTGTTGGCAAGTGACAAAAAATATGGGAAGTATTTGCTAC
CAGTTGGTAGATGGTGCCCTTAATGGTAGAATGAGGAAAATGTCCGCAAAAGCATGTTTTATTATCTTTACTTTTTTGGGGGGTTGGAGGGGGTAGCCTAGCCAGAACATCATTGTAATCTTAAAACA
TAAGATGCTTTTATTAGATGATCAACTAAAATAGCTGGAAGACAGTACTTTAGAAACAGATAGTTGTAAGATTATAAAATGCAAATGTAACTTATGTTTTCATTTTTTTCTCTGCCTTTTTTGTTTGT
TTGTTTTCTCTTTTCCAGTACTGAGCATCTCCACAAATGTCTCCTAACTCAGAAAATGTTTCTTTTCTTTTCAGTTGAGATTTGGTTGCATTCAGGGTTGTAGGTTGGCCTTGCTTGCTAACCCCGCC
GGTTTTACCGTGCTTTCATTCCTGAACTTTGTTTATGCCTTTGTTTGGTTTCTTCGAAATTGCAGCAGACTCATTGGGCTACATTTAGTACAGGAACCACGTGTGTAATGTTATACAACACAGTCTAG
TAATACAATCATCCCTCTTAGAGTAAAAACTACCTCTAGATTGTGGTAAGCTTTTACTGTCCCATAAAACAGGAGCCACAGTACCTTATGAATGCAAAACTGTAACTTCCTACAGTGTTTCCCTACAG
AACATTGTCTTTCTGGTGTCCTGGGCTGTTTTGAAAAAGTTTCCATTAATAGACTTTTTAGAAATTATTATTAGTAGCATTTTTTTTCCAGCTTTGCTGTCTTCATCACTCACTCTATGCTCAGACTA
TGCCACTGTAAATATTCTTCCTAACATCTTTAAATCGCCTTTTCCTCAGTTTTCAAGGGGAAGGTCATTTGTAAAGCACGTTAGGTGGTTAAATCAGTTATTGCGGTTTTCTCTTACTGCAAGCCTTT
TTAATCACCCCCAGGCTGCATTTTATTCTATATCGCCTTTTTTCTTCAAATCTGCTCCAATCACTCACTTCTCTCTTATAAGCTAATCCTGCCTCACACCTTAAATCTGTTTCAGTGATCAAGGGCAG
AACTCATTGTGGCCTTATCTTTCTTTGTTGTAATTGTTCACTGTCTCTTTCTTACAGACCACTTATTTCTGAGTAGTAGTTATTCCTCTCTATGGAGTCATGGCAGGAATCATTACACAGTGCTTTTG
TTCAGAGCATGGACATGTTCCTAGTGCTGCTTTGCTTTAACGGCCACAAGTTTCCTCCACTTCCTAGGTTTGGTATTTAGTTAAGGAATCATATTAAATTAACCAATAACAAAAGAGATACTTTTGAA
GAACAAACTATTCCTTACCCATTTTTGTAGCTCAAAAATAATTTTTCAAGTTCATGACCTTATTAAAATGAACTTGTGTTTTTTTAACAAACATGTATGTTTTATTTTGATAGTTTCTTTCCGTAAGA
TAATTGAAATATTATACTGTAAACCCTTTTCTTTTCTTTTTTTGAAAAGTCCAAGAATGTACTTATACAGGCATTTTTCCCCACCTATTTTTGGCCATTCTCATACCACAGACTAAAGAGTGAAATGA
TTTGTCCATTGTAGCTTATTGTTTATCAGTAGTTCTTTTGTCAGCTGCTTACATTTTTTCTTTCATGGTTTTGTGAATCATTTTCAGTATGTAATTTATAGGAACCTTGTCCTCTGGTTATAGTAGAC
TGTGTGCCCTCCTCCAGTGATGGCATTATTAGACATGCTGGTCATTTACCCTCAGAAAGACTCTCTTATTAGAATGGTGAGTGCTTCAGTTATAGTATGTTTGAATTTTTAAAAAATTCTGTTTTAGA
AATGTATCTTATGCTCTCATGACTATGCAGTTTCTAAACATACACATAGAAGCTGAGTCTCTGATCCAATATGTTTTTATTTGTTCCATTTAATTTATCACATAGATTGGGAAGGCAAGCTAAAAGCC
TTAAAAATGCCCTTTATATTTTGAGTGATTTCAGCGTTGAACACTAGTATACTATCTAAATTTGCTGCTCACTTTCTTTAAACTGTGGCAATTAAAGGCATGTTTATACATGACTTAATCGTGAAATG
TTTGTCACTCTTACTGCACAGACTTATCTGCAATCATAACTGGTTAGTTTTTTTGTTTTGTTTTGTTTTATTGTTTTTAATGAAACTGGTACCATCTGTGCTTTCACAAAAAACTTCCAATGCCATTT
TTGAGAACTAACCTAACTAGTCATGCTAACCAGAAAATCCACTGGGGAGGAGGTTCCTTTTGAAACAAAATGCTGTTCAGTTAGTAACCAAGTTACTTTGATTGCAAAAGCAGCTGTGTTTCTGATAA
GTACTGAACAAATGTGTGTAATTTTCTGTGCCAGACTTATGACTTTGTTTTCAAGCACTGTAATGTGGGATGGATGGTTAGAAACAATAATATATTAGGGTTTCTGTTTAACCCTTTCAGGACTGAAC
TGTATCTCCTTTTGTTAATTTTCCCCTGTGTTGTGATAAATGTTTGCCAGCATTCAGTACTGTGTTGGTCCAGATGTAGGTTTATATGCTCATTTTTAGCTTATTTCTTGTACCTTGCAGCATGCTCT
ACGCATTCAGTCCTTAAGGGGTTTATTTTACAAACTGTGCGCCTGTAAGGTTTATTAGCAATAAGATAGAAAATTGAGCAAGTTTATACCATAATTTTGTAGAAAAAAAGAATCTGCTCAGTTCCATA
TTTCATCCGTGAAAAACTTGCAATACGAGCAGTTTCAAGGAATAAATAAAAAGGAAATGTAAACCATTGTAAAAGTCTTCTGTCGAATGTGCCTGATGCATGTATTATCGTCTTTTATTTCAGAATAC
TTCATAAAGATAAAATTAAATTCTATATTATAGTTGGTGTATTTACAATCTTACCATGTACATCACATCAAAGTGATAGCTCTACTAATTTAATTTCCTTGTCAATGTTTTTAACTATATAGTGCTTT
AAAGAGATTTTTTTTCCCTGTGTAAA

hide sequence

RefSeq Acc Id:

XM_011513840 ⟹ XP_011512142

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	26,321,228 - 26,435,131 (+)	NCBI

Sequence:

show sequence

GGGCTCTGCCTGGGGGCCCCGTGCATCTTTGTTCCTCGCGGCCGTTGTCGCCGCTTCGCCCCGC
TAGTGCCCCCGGCCCCGGGCGCTTTGTCTTTCACCGCTACCCGCTGCGACTCTCTACCCCCGGCCCTTTGTTTCGCCGCCTTGGGCGCTTTGTCCGACCCGTGGCGTCCCGCATCCCCTCTCCATCTC
CTCCCCTCCGCTGTCCTTCCTCCCGTGCCCCTTTGTTGTGCCACACTCTTGTCGTTAGCCCAGTGACCTGCCACAGCCCGGGCACCAGATTTCTGCCTTAATTGTTCTTCCATTGTCTTTCTCCTGTG
GGTCCCCTCTCACCTTTCTGTATGGTCCTGGATCACCCCCCGAGGCTTTGTCTCCCCCATCCACGGGCTTATTCTCTCGGCACCCCCTTCCTCTCCCGTCATCGGTTGATTTATCCACAACCCACGGT
GTACGTCTGCTGAACTGTCTCAGCCCCGGGGACTCCATCTGCTGCTTCTAAGTGCACACAAGACTCTACGTCATTGAAATTATGAGACTATCATTCAAATGGAAGCATTATAGTTCTTCGGAACCATT
ATGATCTCAAAACGAAAGGAGAATGATACAGATACACTGGCTGAGGTGTTTTGAGGTGCATCGAAGTGTTCCAAGCTGTGACTTACCTTAACATGTTCTTGAAGTACCATGGCGTGGATTAAAAGGAA
ATTTGGTGAGCGGCCTCCACCTAAACGACTTACTAGGGAAGCTATGCGAAATTATTTAAAAGAGCGAGGGGATCAAACAGTACTTATTCTTCATGCAAAAGTTGCACAGAAGTCATATGGAAATGAAA
AAAGGTTTTTTTGCCCACCTCCTTGTGTATATCTTATGGGCAGTGGATGGAAGAAAAAAAAAGAACAAATGGAACGCGATGGTTGTTCTGAACAAGAGTCTCAACCGTGTGCATTTATTGGGATAGGA
AATAGTGACCAAGAAATGCAGCAGCTAAACTTGGAAGGAAAGAACTATTGCACAGCCAAAACATTGTATATATCTGACTCAGACAAGCGAAAGCACTTCATGTTGTCTGTAAAGATGTTCTATGGCAA
CAGTGATGACATTGGTGTGTTCCTCAGCAAGCGGATAAAAGTCATCTCCAAACCTTCCAAAAAGAAGCAGTCATTGAAAAATGCTGACTTATGCATTGCCTCAGGAACAAAGGTGGCTCTGTTTAATC
GACTACGATCCCAGACAGTTAGTACCAGATACTTGCATGTAGAAGGAGGTAATTTTCATGCCAGTTCACAGCAGTGGGGAGCCTTTTTTATTCATCTCTTGGATGATGATGAATCAGAAGGAGAAGAA
TTCACAGTCCGAGATGGCTACATCCATTATGGACAAACAGTCAAACTTGTGTGCTCAGTTACTGGCATGGCACTCCCAAGATTGATAATTAGGAAAGTTGATAAGCAGACCGCATTATTGGATGCAGA
TGATCCTGTGTCACAACTCCATAAATGTGCATTTTACCTTAAGGATACAGAAAGAATGTATTTGTGCCTTTCTCAAGAAAGAATAATTCAATTTCAGGCCACTCCATGTCCAAAAGAACCAAATAAAG
AGATGATAAATGATGGCGCTTCCTGGACAATCATTAGCACAGATAAGGCAGAGTATACATTTTATGAGGGAATGGGCCCTGTCCTTGCCCCAGTCACTCCTGTGCCTGTGGTAGAGAGCCTTCAGTTG
AATGGCGGTGGGGACGTAGCAATGCTTGAACTTACAGGACAGAATTTCACTCCAAATTTACGAGTGTGGTTTGGGGATGTAGAAGCTGAAACTATGTACAGGTGTGGAGAGAGTATGCTCTGTGTCGT
CCCAGACATTTCTGCATTCCGAGAAGGTTGGAGATGGGTCCGGCAACCAGTCCAGGTTCCAGTAACTTTGGTCCGAAATGATGGAATCATTTATTCCACCAGCCTTACCTTTACCTACACACCAGAAC
CAGGGCCGCGGCCACATTGCAGTGCAGCAGGAGCAATCCTTCGAGCCAATTCAAGCCAGGTGCCCCCTAACGAATCAAACACAAACAGCGAGGGAAGTTACACAAACGCCAGCACAAATTCAACCAGT
GTCACATCATCTACAGCCACAGTGGTATCCTAACTACCGTCTTTTTGCTAGGACTTAAACTGACTTGAGTGTGGCAAAAAGTTAACAAAAAAGGAGAAAAAATGAACAATCGTTTGTGGTTTCTTGGG
AAAACTTTTCATACCAGGTGATACTATTCAAAAACCCCGTTGTCTCCCTGCAAGTGCTGATTTGAAATGCAGAAGCCACAGTAAAAAAAAAAAAAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

XM_017008171 ⟹ XP_016863660

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	26,322,166 - 26,435,131 (+)	NCBI

Sequence:

show sequence

TTTACCAGGATTACTATGCTGAAGGTATTCTTCAAGAGTTTGTTTTTTTTCTACTGGTTGATCTCTACTTTTAGAAGGAAATTTGGTGAGCGGCCTCCACCTAAACGACTTACTAGGGAAGCTATGCG
AAATTATTTAAAAGAGCGAGGGGATCAAACAGTACTTATTCTTCATGCAAAAGTTGCACAGAAGTCATATGGAAATGAAAAAAGGTTTTTTTGCCCACCTCCTTGTGTATATCTTATGGGCAGTGGAT
GGAAGAAAAAAAAAGAACAAATGGAACGCGATGGTTGTTCTGAACAAGAGTCTCAACCGTGTGCATTTATTGGGATAGGAAATAGTGACCAAGAAATGCAGCAGCTAAACTTGGAAGGAAAGAACTAT
TGCACAGCCAAAACATTGTATATATCTGACTCAGACAAGCGAAAGCACTTCATGTTGTCTGTAAAGATGTTCTATGGCAACAGTGATGACATTGGTGTGTTCCTCAGCAAGCGGATAAAAGTCATCTC
CAAACCTTCCAAAAAGAAGCAGTCATTGAAAAATGCTGACTTATGCATTGCCTCAGGAACAAAGGTGGCTCTGTTTAATCGACTACGATCCCAGACAGTTAGTACCAGATACTTGCATGTAGAAGGAG
GTAATTTTCATGCCAGTTCACAGCAGTGGGGAGCCTTTTTTATTCATCTCTTGGATGATGATGAATCAGAAGGAGAAGAATTCACAGTCCGAGATGGCTACATCCATTATGGACAAACAGTCAAACTT
GTGTGCTCAGTTACTGGCATGGCACTCCCAAGATTGATAATTAGGAAAGTTGATAAGCAGACCGCATTATTGGATGCAGATGATCCTGTGTCACAACTCCATAAATGTGCATTTTACCTTAAGGATAC
AGAAAGAATGTATTTGTGCCTTTCTCAAGAAAGAATAATTCAATTTCAGGCCACTCCATGTCCAAAAGAACCAAATAAAGAGATGATAAATGATGGCGCTTCCTGGACAATCATTAGCACAGATAAGG
CAGAGTATACATTTTATGAGGGAATGGGCCCTGTCCTTGCCCCAGTCACTCCTGTGCCTGTGGTAGAGAGCCTTCAGTTGAATGGCGGTGGGGACGTAGCAATGCTTGAACTTACAGGACAGAATTTC
ACTCCAAATTTACGAGTGTGGTTTGGGGATGTAGAAGCTGAAACTATGTACAGGTGTGGAGAGAGTATGCTCTGTGTCGTCCCAGACATTTCTGCATTCCGAGAAGGTTGGAGATGGGTCCGGCAACC
AGTCCAGGTTCCAGTAACTTTGGTCCGAAATGATGGAATCATTTATTCCACCAGCCTTACCTTTACCTACACACCAGAACCAGGGCCGCGGCCACATTGCAGTGCAGCAGGAGCAATCCTTCGAGCCA
ATTCAAGCCAGGTGCCCCCTAACGAATCAAACACAAACAGCGAGGGAAGTTACACAAACGCCAGCACAAATTCAACCAGTGTCACATCATCTACAGCCACAGTGGTATCCTAACTACCGTCTTTTTGC
TAGGACTTAAACTGACTTGAGTGTGGCAAAAAGTTAACAAAAAAGGAGAAAAAATGAACAATCGTTTGTGGTTTCTTGGGAAAACTTTTCATACCAGGTGATACTATTCAAAAACCCCGTTGTCTCCC
TGCAAGTGCTGATTTGAAATGCAGAAGCCACAGTAAAAAAAAAAAAAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

XM_047415656 ⟹ XP_047271612

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	26,105,449 - 26,435,131 (+)	NCBI

RefSeq Acc Id:

XM_047415657 ⟹ XP_047271613

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	26,322,166 - 26,435,131 (+)	NCBI

RefSeq Acc Id:

XM_047415658 ⟹ XP_047271614

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	26,322,166 - 26,435,131 (+)	NCBI

RefSeq Acc Id:

XM_054349956 ⟹ XP_054205931

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	26,087,631 - 26,420,111 (+)	NCBI

RefSeq Acc Id:

XM_054349957 ⟹ XP_054205932

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	26,307,924 - 26,420,111 (+)	NCBI

RefSeq Acc Id:

XM_054349958 ⟹ XP_054205933

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	26,306,219 - 26,420,111 (+)	NCBI


Protein RefSeqs	NP_001350506	(Get FASTA)	NCBI Sequence Viewer
	NP_001361329	(Get FASTA)	NCBI Sequence Viewer
	NP_001361330	(Get FASTA)	NCBI Sequence Viewer
	NP_001361331	(Get FASTA)	NCBI Sequence Viewer
	NP_001361332	(Get FASTA)	NCBI Sequence Viewer
	NP_001366335	(Get FASTA)	NCBI Sequence Viewer
	NP_001366336	(Get FASTA)	NCBI Sequence Viewer
	NP_001366337	(Get FASTA)	NCBI Sequence Viewer
	NP_001366338	(Get FASTA)	NCBI Sequence Viewer
	NP_005340	(Get FASTA)	NCBI Sequence Viewer
	NP_056958	(Get FASTA)	NCBI Sequence Viewer
	NP_976028	(Get FASTA)	NCBI Sequence Viewer
	NP_976029	(Get FASTA)	NCBI Sequence Viewer
	XP_011512142	(Get FASTA)	NCBI Sequence Viewer
	XP_016863660	(Get FASTA)	NCBI Sequence Viewer
	XP_047271612	(Get FASTA)	NCBI Sequence Viewer
	XP_047271613	(Get FASTA)	NCBI Sequence Viewer
	XP_047271614	(Get FASTA)	NCBI Sequence Viewer
	XP_054205931	(Get FASTA)	NCBI Sequence Viewer
	XP_054205932	(Get FASTA)	NCBI Sequence Viewer
	XP_054205933	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA16253	(Get FASTA)	NCBI Sequence Viewer
	AAA16254	(Get FASTA)	NCBI Sequence Viewer
	AAA16356	(Get FASTA)	NCBI Sequence Viewer
	AAA60258	(Get FASTA)	NCBI Sequence Viewer
	AAA91836	(Get FASTA)	NCBI Sequence Viewer
	AAH20780	(Get FASTA)	NCBI Sequence Viewer
	AAH64976	(Get FASTA)	NCBI Sequence Viewer
	BAA21773	(Get FASTA)	NCBI Sequence Viewer
	BAG63584	(Get FASTA)	NCBI Sequence Viewer
	BAH13924	(Get FASTA)	NCBI Sequence Viewer
	CCQ43315	(Get FASTA)	NCBI Sequence Viewer
	EAW92846	(Get FASTA)	NCBI Sequence Viewer
	EAW92847	(Get FASTA)	NCBI Sequence Viewer
	EAW92848	(Get FASTA)	NCBI Sequence Viewer
	EAW92849	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000305815
	ENSP00000305815.6
	ENSP00000339699
	ENSP00000339699.5
	ENSP00000340124.4
	ENSP00000345206
	ENSP00000345206.1
	ENSP00000347659
	ENSP00000347659.4
	ENSP00000354528.6
	ENSP00000421804.2
	ENSP00000423644
	ENSP00000423644.2
	ENSP00000423907.1
	ENSP00000426872
	ENSP00000426872.2
	ENSP00000504964.1
	ENSP00000505255.1
	ENSP00000505493
	ENSP00000505493.1
	ENSP00000505636
	ENSP00000505636.1
GenBank Protein	Q06330	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_005340 ⟸ NM_005349
- Peptide Label:	isoform 1
- UniProtKB:	Q5XKH9 (UniProtKB/Swiss-Prot), B4DY22 (UniProtKB/Swiss-Prot), Q6P1N3 (UniProtKB/Swiss-Prot), Q06330 (UniProtKB/Swiss-Prot), A0A7P0T947 (UniProtKB/TrEMBL)
- Sequence:	show sequence MDHTEGSPAEEPPAHAPSPGKFGERPPPKRLTREAMRNYLKERGDQTVLILHAKVAQKSYGNEKRFFCPPPCVYLMGSGWKKKKEQMERDGCSEQESQPCAFIGIGNSDQEMQQLNLEGKNYCTAKTL YISDSDKRKHFMLSVKMFYGNSDDIGVFLSKRIKVISKPSKKKQSLKNADLCIASGTKVALFNRLRSQTVSTRYLHVEGGNFHASSQQWGAFFIHLLDDDESEGEEFTVRDGYIHYGQTVKLVCSVTG MALPRLIIRKVDKQTALLDADDPVSQLHKCAFYLKDTERMYLCLSQERIIQFQATPCPKEPNKEMINDGASWTIISTDKAEYTFYEGMGPVLAPVTPVPVVESLQLNGGGDVAMLELTGQNFTPNLRV WFGDVEAETMYRCGESMLCVVPDISAFREGWRWVRQPVQVPVTLVRNDGIIYSTSLTFTYTPEPGPRPHCSAAGAILRANSSQVPPNESNTNSEGSYTNASTNSTSVTSSTATVVS hide sequence

RefSeq Acc Id:	NP_976028 ⟸ NM_203283
- Peptide Label:	isoform 3
- UniProtKB:	A0A7P0T947 (UniProtKB/TrEMBL)
- Sequence:	show sequence MGGCRKFGERPPPKRLTREAMRNYLKERGDQTVLILHAKVAQKSYGNEKRFFCPPPCVYLMGSGWKKKKEQMERDGCSEQESQPCAFIGIGNSDQEMQQLNLEGKNYCTAKTLYISDSDKRKHFMLSV KMFYGNSDDIGVFLSKRIKVISKPSKKKQSLKNADLCIASGTKVALFNRLRSQTVSTRYLHVEGGNFHASSQQWGAFFIHLLDDDESEGEEFTVRDGYIHYGQTVKLVCSVTGMALPRLIIRKVDKQT ALLDADDPVSQLHKCAFYLKDTERMYLCLSQERIIQFQATPCPKEPNKEMINDGASWTIISTDKAEYTFYEGMGPVLAPVTPVPVVESLQLNGGGDVAMLELTGQNFTPNLRVWFGDVEAETMYRCGE SMLCVVPDISAFREGWRWVRQPVQVPVTLVRNDGIIYSTSLTFTYTPEPGPRPHCSAAGAILRANSSQVPPNESNTNSEGSYTNASTNSTSVTSSTATVVS hide sequence

RefSeq Acc Id:	NP_976029 ⟸ NM_203284
- Peptide Label:	isoform 4
- UniProtKB:	A0A7P0T947 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAWIKRKFGERPPPKRLTREAMRNYLKERGDQTVLILHAKVAQKSYGNEKRFFCPPPCVYLMGSGWKKKKEQMERDGCSEQESQPCAFIGIGNSDQEMQQLNLEGKNYCTAKTLYISDSDKRKHFMLS VKMFYGNSDDIGVFLSKRIKVISKPSKKKQSLKNADLCIASGTKVALFNRLRSQTVSTRYLHVEGGNFHASSQQWGAFFIHLLDDDESEGEEFTVRDGYIHYGQTVKLVCSVTGMALPRLIIRKVDKQ TALLDADDPVSQLHKCAFYLKDTERMYLCLSQERIIQFQATPCPKEPNKEMINDGASWTIISTDKAEYTFYEGMGPVLAPVTPVPVVESLQLNGGGDVAMLELTGQNFTPNLRVWFGDVEAETMYRCG ESMLCVVPDISAFREGWRWVRQPVQVPVTLVRNDGIIYSTSLTFTYTPEPGPRPHCSAAGAILRANSSQVPPNESNTNSEGSYTNASTNSTSVTSSTATVVS hide sequence

RefSeq Acc Id:	NP_056958 ⟸ NM_015874
- Peptide Label:	isoform 2
- UniProtKB:	A0A7P0T947 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAPVVTGKFGERPPPKRLTREAMRNYLKERGDQTVLILHAKVAQKSYGNEKRFFCPPPCVYLMGSGWKKKKEQMERDGCSEQESQPCAFIGIGNSDQEMQQLNLEGKNYCTAKTLYISDSDKRKHFML SVKMFYGNSDDIGVFLSKRIKVISKPSKKKQSLKNADLCIASGTKVALFNRLRSQTVSTRYLHVEGGNFHASSQQWGAFFIHLLDDDESEGEEFTVRDGYIHYGQTVKLVCSVTGMALPRLIIRKVDK QTALLDADDPVSQLHKCAFYLKDTERMYLCLSQERIIQFQATPCPKEPNKEMINDGASWTIISTDKAEYTFYEGMGPVLAPVTPVPVVESLQLNGGGDVAMLELTGQNFTPNLRVWFGDVEAETMYRC GESMLCVVPDISAFREGWRWVRQPVQVPVTLVRNDGIIYSTSLTFTYTPEPGPRPHCSAAGAILRANSSQVPPNESNTNSEGSYTNASTNSTSVTSSTATVVS hide sequence

RefSeq Acc Id:	XP_011512142 ⟸ XM_011513840
- Peptide Label:	isoform X3
- UniProtKB:	A0A7P0T947 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAWIKRKFGERPPPKRLTREAMRNYLKERGDQTVLILHAKVAQKSYGNEKRFFCPPPCVYLMGSGWKKKKEQMERDGCSEQESQPCAFIGIGNSDQEMQQLNLEGKNYCTAKTLYISDSDKRKHFMLS VKMFYGNSDDIGVFLSKRIKVISKPSKKKQSLKNADLCIASGTKVALFNRLRSQTVSTRYLHVEGGNFHASSQQWGAFFIHLLDDDESEGEEFTVRDGYIHYGQTVKLVCSVTGMALPRLIIRKVDKQ TALLDADDPVSQLHKCAFYLKDTERMYLCLSQERIIQFQATPCPKEPNKEMINDGASWTIISTDKAEYTFYEGMGPVLAPVTPVPVVESLQLNGGGDVAMLELTGQNFTPNLRVWFGDVEAETMYRCG ESMLCVVPDISAFREGWRWVRQPVQVPVTLVRNDGIIYSTSLTFTYTPEPGPRPHCSAAGAILRANSSQVPPNESNTNSEGSYTNASTNSTSVTSSTATVVS hide sequence

Protein Domains

Beta-trefoil DNA-binding IPT/TIG RBP-J/Cbf11/Cbf12 DNA binding RBP-Jkappa IPT

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q06330-F1-model_v2	AlphaFold	Q06330	1-500	view protein structure

RGD ID:

6802556

Promoter ID:

HG_KWN:48002

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

NM_005349, OTTHUMT00000215045

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	4	25,929,971 - 25,930,497 (+)	MPROMDB

RGD ID:

6802561

Promoter ID:

HG_KWN:48003

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

NM_015874, NM_203284, UC003GRZ.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	4	25,930,331 - 25,931,702 (+)	MPROMDB

RGD ID:

6812588

Promoter ID:

HG_ACW:58705

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell_12Hour, Lymphoblastoid, NB4

Transcripts:

RBPJ.FAPR07

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	4	25,931,821 - 25,932,577 (+)	MPROMDB

RGD ID:

6867174

Promoter ID:

EPDNEW_H6752

Type:

initiation region

Name:

RBPJ_4

Description:

recombination signal binding protein for immunoglobulin kappaJ region

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H6753 EPDNEW_H6754 EPDNEW_H6755 EPDNEW_H6756

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	26,163,458 - 26,163,518	EPDNEW

RGD ID:

6867176

Promoter ID:

EPDNEW_H6753

Type:

initiation region

Name:

RBPJ_3

Description:

recombination signal binding protein for immunoglobulin kappaJ region

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H6752 EPDNEW_H6754 EPDNEW_H6755 EPDNEW_H6756

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	26,319,746 - 26,319,806	EPDNEW

RGD ID:

6867178

Promoter ID:

EPDNEW_H6754

Type:

initiation region

Name:

RBPJ_1

Description:

recombination signal binding protein for immunoglobulin kappaJ region

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H6752 EPDNEW_H6753 EPDNEW_H6755 EPDNEW_H6756

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	26,320,807 - 26,320,867	EPDNEW

RGD ID:

6867180

Promoter ID:

EPDNEW_H6755

Type:

initiation region

Name:

RBPJ_2

Description:

recombination signal binding protein for immunoglobulin kappaJ region

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H6752 EPDNEW_H6753 EPDNEW_H6754 EPDNEW_H6756

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	26,321,014 - 26,321,074	EPDNEW

RGD ID:

6867182

Promoter ID:

EPDNEW_H6756

Type:

initiation region

Name:

RBPJ_5

Description:

recombination signal binding protein for immunoglobulin kappaJ region

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H6752 EPDNEW_H6753 EPDNEW_H6754 EPDNEW_H6755

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	26,362,440 - 26,362,500	EPDNEW

Database	Acc Id	Source(s)
COSMIC	RBPJ	COSMIC
Ensembl Genes	ENSG00000168214	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000342295	ENTREZGENE
	ENST00000342295.6	UniProtKB/Swiss-Prot
	ENST00000342320.8	UniProtKB/Swiss-Prot
	ENST00000345843	ENTREZGENE
	ENST00000345843.8	UniProtKB/Swiss-Prot
	ENST00000348160	ENTREZGENE
	ENST00000348160.9	UniProtKB/Swiss-Prot
	ENST00000355476	ENTREZGENE
	ENST00000355476.8	UniProtKB/Swiss-Prot
	ENST00000361572.10	UniProtKB/Swiss-Prot
	ENST00000504423.2	UniProtKB/Swiss-Prot
	ENST00000505958	ENTREZGENE
	ENST00000505958.6	UniProtKB/Swiss-Prot
	ENST00000507561.5	UniProtKB/Swiss-Prot
	ENST00000512671	ENTREZGENE
	ENST00000512671.6	UniProtKB/Swiss-Prot
	ENST00000680928	ENTREZGENE
	ENST00000680928.1	UniProtKB/Swiss-Prot
	ENST00000681093.1	UniProtKB/Swiss-Prot
	ENST00000681264.1	UniProtKB/Swiss-Prot
	ENST00000681484	ENTREZGENE
	ENST00000681484.1	UniProtKB/Swiss-Prot
Gene3D-CATH	2.60.40.10	UniProtKB/Swiss-Prot
	2.60.40.1450	UniProtKB/Swiss-Prot
	2.80.10.50	UniProtKB/Swiss-Prot
GTEx	ENSG00000168214	GTEx
HGNC ID	HGNC:5724	ENTREZGENE
Human Proteome Map	RBPJ	Human Proteome Map
InterPro	Beta-trefoil_DNA-bd_dom	UniProtKB/Swiss-Prot
	BTD_sf	UniProtKB/Swiss-Prot
	CLS_fam	UniProtKB/Swiss-Prot
	Ig-like_fold	UniProtKB/Swiss-Prot
	Ig_E-set	UniProtKB/Swiss-Prot
	p53-like_TF_DNA-bd	UniProtKB/Swiss-Prot
	RBP-J/Cbf11/Cbf12_DNA-bd	UniProtKB/Swiss-Prot
	RBP-J/Cbf11/Cbf12_DNA-bd_sf	UniProtKB/Swiss-Prot
	RBP-Jkappa_IPT	UniProtKB/Swiss-Prot
KEGG Report	hsa:3516	UniProtKB/Swiss-Prot
NCBI Gene	3516	ENTREZGENE
OMIM	147183	OMIM
PANTHER	PTHR10665	UniProtKB/Swiss-Prot
Pfam	BTD	UniProtKB/Swiss-Prot
	LAG1-DNAbind	UniProtKB/Swiss-Prot
	TIG_SUH	UniProtKB/Swiss-Prot
PharmGKB	PA34292	PharmGKB
SMART	BTD	UniProtKB/Swiss-Prot
	LAG1_DNAbind	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF110217	UniProtKB/Swiss-Prot
	SSF49417	UniProtKB/Swiss-Prot
	SSF81296	UniProtKB/Swiss-Prot
UniProt	A0A7P0T7Z3_HUMAN	UniProtKB/TrEMBL
	A0A7P0T806_HUMAN	UniProtKB/TrEMBL
	A0A7P0T821_HUMAN	UniProtKB/TrEMBL
	A0A7P0T848_HUMAN	UniProtKB/TrEMBL
	A0A7P0T947	ENTREZGENE, UniProtKB/TrEMBL
	A0A7P0T964_HUMAN	UniProtKB/TrEMBL
	A0A7P0T9W9_HUMAN	UniProtKB/TrEMBL
	A0A7P0T9Y9_HUMAN	UniProtKB/TrEMBL
	A0A7P0TA33_HUMAN	UniProtKB/TrEMBL
	A0A7P0TBJ4_HUMAN	UniProtKB/TrEMBL
	A0A7P0Z4N7_HUMAN	UniProtKB/TrEMBL
	B4DY22	ENTREZGENE
	D6R927_HUMAN	UniProtKB/TrEMBL
	D6R946_HUMAN	UniProtKB/TrEMBL
	D6R9K5_HUMAN	UniProtKB/TrEMBL
	D6R9X3_HUMAN	UniProtKB/TrEMBL
	D6RA45_HUMAN	UniProtKB/TrEMBL
	D6RAT2_HUMAN	UniProtKB/TrEMBL
	D6RB37_HUMAN	UniProtKB/TrEMBL
	D6RBQ8_HUMAN	UniProtKB/TrEMBL
	D6RCM1_HUMAN	UniProtKB/TrEMBL
	D6RE93_HUMAN	UniProtKB/TrEMBL
	D6REC2_HUMAN	UniProtKB/TrEMBL
	D6REP3_HUMAN	UniProtKB/TrEMBL
	D6RF98	ENTREZGENE, UniProtKB/TrEMBL
	D6RIV8_HUMAN	UniProtKB/TrEMBL
	D6RIZ8_HUMAN	UniProtKB/TrEMBL
	H0Y8R3_HUMAN	UniProtKB/TrEMBL
	L8E7S3_HUMAN	UniProtKB/TrEMBL
	Q06330	ENTREZGENE
	Q5XKH9	ENTREZGENE
	Q6P1N3	ENTREZGENE
	SUH_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	B4DY22	UniProtKB/Swiss-Prot
	Q5XKH9	UniProtKB/Swiss-Prot
	Q6P1N3	UniProtKB/Swiss-Prot

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


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


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - KEGG (archival)

Imported Annotations - PID (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - KEGG (archival)

Imported Annotations - PID (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar