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Gene: ARIH1 (ariadne RBR E3 ubiquitin protein ligase 1) Homo sapiens

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Symbol:

ARIH1

Name:

ariadne RBR E3 ubiquitin protein ligase 1

RGD ID:

1317726

HGNC Page

HGNC:689

Description:

Enables enzyme binding activity; ubiquitin-protein transferase activity; and zinc ion binding activity. Involved in protein ubiquitination. Located in several cellular components, including Lewy body; cullin-RING ubiquitin ligase complex; and nuclear body.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

ARI; ARI-1; ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1; ariadne, Drosophila, homolog of; DKFZp686O13120; E3 ubiquitin-protein ligase ARIH1; FLJ20329; FLJ93118; H7-AP2; HARI; HHARI; monocyte protein 6; MOP-6; protein ariadne-1 homolog; ubcH7-binding protein; UBCH7BP; ubcM4-interacting protein; ubiquitin-conjugating enzyme E2-binding protein 1

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Arih1 (ariadne RBR E3 ubiquitin protein ligase 1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Arih1 (ariadne RBR E3 ubiquitin protein ligase 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Arih1 (ariadne RBR E3 ubiquitin protein ligase 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	ARIH1 (ariadne RBR E3 ubiquitin protein ligase 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	ARIH1 (ariadne RBR E3 ubiquitin protein ligase 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Arih1 (ariadne RBR E3 ubiquitin protein ligase 1)	NCBI	Ortholog
Sus scrofa (pig):	ARIH1 (ariadne RBR E3 ubiquitin protein ligase 1)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	ARIH1 (ariadne RBR E3 ubiquitin protein ligase 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Arih1 (ariadne RBR E3 ubiquitin protein ligase 1)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Arih1 (ariadne RBR E3 ubiquitin protein ligase 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Arih1 (ariadne RBR E3 ubiquitin protein ligase 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	arih1l (ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 like)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	arih1 (ariadne ubiquitin-conjugating enzyme E2 binding protein homolog 1 (Drosophila))	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	CG12362	Alliance	DIOPT (Hieranoid\|OrthoFinder\|PANTHER\|PhylomeDB)
Saccharomyces cerevisiae (baker's yeast):	HEL1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	ari-1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	ari-1.1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	ari-1.2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	ari-1.3	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	ari-1.4	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	C17H11.4	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PhylomeDB)
Xenopus tropicalis (tropical clawed frog):	arih1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	arih1.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	arih1.S	Alliance	DIOPT (Xenbase)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	15	72,474,330 - 72,602,987 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	15	72,474,330 - 72,602,987 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	15	72,766,671 - 72,895,328 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	15	70,553,721 - 70,662,877 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	15	70,553,720 - 70,662,877	NCBI
Celera	15	49,652,768 - 49,763,614 (+)	NCBI		Celera
Cytogenetic Map	15	q24.1	NCBI
HuRef	15	49,597,019 - 49,709,554 (+)	NCBI		HuRef
CHM1_1	15	72,884,658 - 72,996,840 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	15	70,291,593 - 70,420,271 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
ARIH1	Human	aortic aneurysm		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aortic aneurysm	ClinVar	PMID:28492532 and PMID:29689197
ARIH1	Human	aortic aneurysm		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Aortic aneurysm	ClinVar	PMID:29689197
ARIH1	Human	Bloom syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Bloom syndrome	ClinVar	PMID:28492532
ARIH1	Human	Brugada syndrome 8		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Brugada syndrome 8	ClinVar	PMID:28492532
ARIH1	Human	colorectal cancer		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Familial colorectal cancer	ClinVar	PMID:28492532
ARIH1	Human	Tay-Sachs disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Tay-Sachs disease	ClinVar	PMID:1833974 more ...
ARIH1	Human	Tay-Sachs disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Tay-Sachs disease	ClinVar	PMID:28492532
ARIH1	Human	thoracic aortic aneurysm		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	ClinVar	PMID:25741868
ARIH1	Human	thoracic aortic aneurysm		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	ClinVar	PMID:25741868 and PMID:28492532

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
ARIH1	Human	1,2-dimethylhydrazine	decreases expression	ISO	Arih1 (Mus musculus)	6480464	1 and 2-Dimethylhydrazine results in decreased expression of ARIH1 mRNA	CTD	PMID:22206623
ARIH1	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Arih1 (Mus musculus)	6480464	Tetrachlorodibenzodioxin affects the expression of ARIH1 mRNA	CTD	PMID:21570461
ARIH1	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	Arih1 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in decreased expression of ARIH1 mRNA	CTD	PMID:33387578
ARIH1	Human	2,4-dinitrotoluene	affects expression	ISO	Arih1 (Rattus norvegicus)	6480464	2 and 4-dinitrotoluene affects the expression of ARIH1 mRNA	CTD	PMID:21346803
ARIH1	Human	2,6-dinitrotoluene	affects expression	ISO	Arih1 (Rattus norvegicus)	6480464	2 and 6-dinitrotoluene affects the expression of ARIH1 mRNA	CTD	PMID:21346803
ARIH1	Human	4,4'-sulfonyldiphenol	increases expression	EXP		6480464	bisphenol S results in increased expression of ARIH1 protein	CTD	PMID:33181973
ARIH1	Human	acrylamide	increases expression	ISO	Arih1 (Rattus norvegicus)	6480464	Acrylamide results in increased expression of ARIH1 mRNA	CTD	PMID:28959563
ARIH1	Human	aflatoxin B1	increases expression	ISO	Arih1 (Mus musculus)	6480464	Aflatoxin B1 results in increased expression of ARIH1 mRNA	CTD	PMID:19770486
ARIH1	Human	antirheumatic drug	increases expression	EXP		6480464	Antirheumatic Agents results in increased expression of ARIH1 mRNA	CTD	PMID:24449571
ARIH1	Human	arsane	multiple interactions	EXP		6480464	[sodium arsenate results in increased abundance of Arsenic] which results in increased expression of ARIH1 mRNA	CTD	PMID:32525701
ARIH1	Human	arsenic atom	multiple interactions	EXP		6480464	[sodium arsenate results in increased abundance of Arsenic] which results in increased expression of ARIH1 mRNA	CTD	PMID:32525701
ARIH1	Human	arsenite(3-)	multiple interactions	EXP		6480464	arsenite inhibits the reaction [G3BP1 protein binds to ARIH1 mRNA]	CTD	PMID:32406909
ARIH1	Human	atrazine	increases expression	EXP		6480464	Atrazine results in increased expression of ARIH1 mRNA	CTD	PMID:22378314
ARIH1	Human	benzo[a]pyrene	increases expression	ISO	Arih1 (Mus musculus)	6480464	Benzo(a)pyrene results in increased expression of ARIH1 mRNA	CTD	PMID:19770486
ARIH1	Human	benzo[a]pyrene	increases expression	EXP		6480464	Benzo(a)pyrene results in increased expression of ARIH1 mRNA	CTD	PMID:21632981
ARIH1	Human	benzo[a]pyrene diol epoxide I	decreases expression	EXP		6480464	7 more ...	CTD	PMID:19150397 and PMID:20018196
ARIH1	Human	bisphenol A	increases expression	EXP		6480464	bisphenol A results in increased expression of ARIH1 mRNA	CTD	PMID:25047013
ARIH1	Human	bisphenol A	decreases expression	ISO	Arih1 (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of ARIH1 mRNA	CTD	PMID:25181051 and PMID:34947998
ARIH1	Human	bisphenol F	increases expression	ISO	Arih1 (Mus musculus)	6480464	bisphenol F results in increased expression of ARIH1 mRNA	CTD	PMID:38685157
ARIH1	Human	calciol	increases expression	ISO	Arih1 (Mus musculus)	6480464	Cholecalciferol results in increased expression of ARIH1 mRNA	CTD	PMID:16508948
ARIH1	Human	carbon nanotube	affects expression	ISO	Arih1 (Mus musculus)	6480464	Nanotubes and Carbon affects the expression of ARIH1 mRNA	CTD	PMID:25554681
ARIH1	Human	CGP 52608	multiple interactions	EXP		6480464	CGP 52608 promotes the reaction [RORA protein binds to ARIH1 gene]	CTD	PMID:28238834
ARIH1	Human	chlorpyrifos	decreases expression	ISO	Arih1 (Mus musculus)	6480464	Chlorpyrifos results in decreased expression of ARIH1 mRNA	CTD	PMID:20350560
ARIH1	Human	cisplatin	increases response to substance	ISO	Arih1 (Mus musculus)	6480464	ARIH1 mutant form results in increased susceptibility to Cisplatin	CTD	PMID:25624349
ARIH1	Human	cisplatin	increases response to substance	EXP		6480464	ARIH1 mutant form results in increased susceptibility to Cisplatin	CTD	PMID:25624349
ARIH1	Human	cisplatin	multiple interactions	EXP		6480464	Cisplatin promotes the reaction [EIF4E2 protein binds to ARIH1 protein] and Cisplatin results in increased expression of and affects the localization of ARIH1 protein	CTD	PMID:25624349
ARIH1	Human	cobalt dichloride	increases expression	EXP		6480464	cobaltous chloride results in increased expression of ARIH1 mRNA	CTD	PMID:19376846
ARIH1	Human	copper(II) sulfate	increases expression	EXP		6480464	Copper Sulfate results in increased expression of ARIH1 mRNA	CTD	PMID:19549813
ARIH1	Human	cyclosporin A	increases expression	EXP		6480464	Cyclosporine results in increased expression of ARIH1 mRNA	CTD	PMID:20106945
ARIH1	Human	DDE	decreases expression	EXP		6480464	Dichlorodiphenyl Dichloroethylene results in decreased expression of ARIH1 mRNA	CTD	PMID:38568856
ARIH1	Human	Dibutyl phosphate	affects expression	EXP		6480464	di-n-butylphosphoric acid affects the expression of ARIH1 mRNA	CTD	PMID:37042841
ARIH1	Human	dibutyl phthalate	increases expression	ISO	Arih1 (Mus musculus)	6480464	Dibutyl Phthalate results in increased expression of ARIH1 mRNA	CTD	PMID:21266533
ARIH1	Human	dibutyl phthalate	increases expression	ISO	Arih1 (Rattus norvegicus)	6480464	Dibutyl Phthalate results in increased expression of ARIH1 mRNA	CTD	PMID:21266533
ARIH1	Human	doxorubicin	increases response to substance	ISO	Arih1 (Mus musculus)	6480464	ARIH1 mutant form results in increased susceptibility to Doxorubicin	CTD	PMID:25624349
ARIH1	Human	doxorubicin	decreases expression	EXP		6480464	Doxorubicin results in decreased expression of ARIH1 mRNA	CTD	PMID:29803840
ARIH1	Human	elemental selenium	decreases expression	EXP		6480464	Selenium results in decreased expression of ARIH1 mRNA	CTD	PMID:19244175
ARIH1	Human	ethanol	affects splicing	ISO	Arih1 (Mus musculus)	6480464	Ethanol affects the splicing of ARIH1 mRNA	CTD	PMID:30319688
ARIH1	Human	ethyl methanesulfonate	increases expression	EXP		6480464	Ethyl Methanesulfonate results in increased expression of ARIH1 mRNA	CTD	PMID:23649840
ARIH1	Human	etoposide	increases response to substance	ISO	Arih1 (Mus musculus)	6480464	ARIH1 mutant form results in increased susceptibility to Etoposide	CTD	PMID:25624349
ARIH1	Human	fenofibrate	increases expression	ISO	Arih1 (Mus musculus)	6480464	Fenofibrate results in increased expression of ARIH1 mRNA	CTD	PMID:21318169
ARIH1	Human	fenofibrate	multiple interactions	ISO	Arih1 (Mus musculus)	6480464	PPARA protein affects the reaction [Fenofibrate results in increased expression of ARIH1 mRNA]	CTD	PMID:21318169
ARIH1	Human	fenvalerate	increases expression	ISO	Arih1 (Rattus norvegicus)	6480464	fenvalerate results in increased expression of ARIH1 mRNA	CTD	PMID:30307764
ARIH1	Human	flutamide	increases expression	ISO	Arih1 (Rattus norvegicus)	6480464	Flutamide results in increased expression of ARIH1 mRNA	CTD	PMID:24136188
ARIH1	Human	FR900359	increases phosphorylation	EXP		6480464	FR900359 results in increased phosphorylation of ARIH1 protein	CTD	PMID:37730182
ARIH1	Human	GSK-J4	increases expression	EXP		6480464	GSK-J4 results in increased expression of ARIH1 mRNA	CTD	PMID:29301935
ARIH1	Human	hypochlorous acid	increases expression	ISO	Arih1 (Mus musculus)	6480464	Hypochlorous Acid results in increased expression of ARIH1 mRNA	CTD	PMID:19376150
ARIH1	Human	ivermectin	decreases expression	EXP		6480464	Ivermectin results in decreased expression of ARIH1 protein	CTD	PMID:32959892
ARIH1	Human	ketamine	decreases expression	ISO	Arih1 (Rattus norvegicus)	6480464	Ketamine results in decreased expression of ARIH1 mRNA	CTD	PMID:20080153
ARIH1	Human	methamphetamine	increases expression	ISO	Arih1 (Rattus norvegicus)	6480464	Methamphetamine results in increased expression of ARIH1 mRNA	CTD	PMID:19564919
ARIH1	Human	methoxychlor	affects methylation	ISO	Arih1 (Rattus norvegicus)	6480464	Methoxychlor affects the methylation of ARIH1 gene	CTD	PMID:35440735
ARIH1	Human	methyl methanesulfonate	increases expression	EXP		6480464	Methyl Methanesulfonate results in increased expression of ARIH1 mRNA	CTD	PMID:23649840
ARIH1	Human	Methylazoxymethanol acetate	increases expression	ISO	Arih1 (Rattus norvegicus)	6480464	Methylazoxymethanol Acetate results in increased expression of ARIH1 mRNA	CTD	PMID:28349193
ARIH1	Human	methylmercury chloride	increases expression	EXP		6480464	methylmercuric chloride results in increased expression of ARIH1 mRNA	CTD	PMID:28001369
ARIH1	Human	mitomycin C	increases response to substance	ISO	Arih1 (Mus musculus)	6480464	ARIH1 mutant form results in increased susceptibility to Mitomycin	CTD	PMID:25624349
ARIH1	Human	N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal	increases expression	EXP		6480464	benzyloxycarbonylleucyl-leucyl-leucine aldehyde results in increased expression of ARIH1 protein	CTD	PMID:25624349
ARIH1	Human	N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal	multiple interactions	EXP		6480464	2-morpholin-4-yl-6-thianthren-1-yl-pyran-4-one inhibits the reaction [benzyloxycarbonylleucyl-leucyl-leucine aldehyde results in increased expression of ARIH1 protein]	CTD	PMID:25624349
ARIH1	Human	ouabain	decreases expression	EXP		6480464	Ouabain results in decreased expression of ARIH1 mRNA	CTD	PMID:16412265
ARIH1	Human	oxaliplatin	multiple interactions	ISO	Arih1 (Rattus norvegicus)	6480464	[oxaliplatin co-treated with Topotecan] results in decreased expression of ARIH1 mRNA	CTD	PMID:25729387
ARIH1	Human	ozone	multiple interactions	ISO	Arih1 (Mus musculus)	6480464	[Air Pollutants results in increased abundance of Ozone] which results in decreased expression of ARIH1 mRNA	CTD	PMID:27106289
ARIH1	Human	ozone	multiple interactions	EXP		6480464	[Air Pollutants results in increased abundance of Ozone] which affects the expression of ARIH1 mRNA	CTD	PMID:35430440
ARIH1	Human	paracetamol	increases expression	ISO	Arih1 (Mus musculus)	6480464	Acetaminophen results in increased expression of ARIH1 mRNA	CTD	PMID:17585979
ARIH1	Human	paracetamol	increases expression	ISO	Arih1 (Rattus norvegicus)	6480464	Acetaminophen results in increased expression of ARIH1 mRNA	CTD	PMID:33387578
ARIH1	Human	paracetamol	increases expression	EXP		6480464	Acetaminophen results in increased expression of ARIH1 mRNA	CTD	PMID:21420995
ARIH1	Human	paracetamol	affects expression	ISO	Arih1 (Mus musculus)	6480464	Acetaminophen affects the expression of ARIH1 mRNA	CTD	PMID:17562736
ARIH1	Human	paracetamol	multiple interactions	ISO	Arih1 (Mus musculus)	6480464	MAP3K5 protein affects the reaction [Acetaminophen results in increased expression of ARIH1 mRNA]	CTD	PMID:18700144
ARIH1	Human	phenobarbital	increases expression	ISO	Arih1 (Mus musculus)	6480464	Phenobarbital results in increased expression of ARIH1 mRNA	CTD	PMID:19270015
ARIH1	Human	pirinixic acid	decreases expression	ISO	Arih1 (Mus musculus)	6480464	pirinixic acid results in decreased expression of ARIH1 mRNA	CTD	PMID:20813756
ARIH1	Human	pirinixic acid	increases expression	ISO	Arih1 (Mus musculus)	6480464	pirinixic acid results in increased expression of ARIH1 mRNA	CTD	PMID:23811191
ARIH1	Human	rotenone	decreases expression	ISO	Arih1 (Rattus norvegicus)	6480464	Rotenone results in decreased expression of ARIH1 mRNA	CTD	PMID:19013527
ARIH1	Human	SB 431542	multiple interactions	EXP		6480464	[LDN 193189 co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide co-treated with FGF2 protein] results in increased expression of ARIH1 protein	CTD	PMID:37664457
ARIH1	Human	selenium atom	decreases expression	EXP		6480464	Selenium results in decreased expression of ARIH1 mRNA	CTD	PMID:19244175
ARIH1	Human	silver atom	decreases expression	ISO	Arih1 (Mus musculus)	6480464	Silver results in decreased expression of ARIH1 mRNA	CTD	PMID:27131904
ARIH1	Human	silver(0)	decreases expression	ISO	Arih1 (Mus musculus)	6480464	Silver results in decreased expression of ARIH1 mRNA	CTD	PMID:27131904
ARIH1	Human	sodium arsenate	multiple interactions	EXP		6480464	[sodium arsenate results in increased abundance of Arsenic] which results in increased expression of ARIH1 mRNA	CTD	PMID:32525701
ARIH1	Human	sodium arsenite	increases expression	EXP		6480464	sodium arsenite results in increased expression of ARIH1 mRNA	CTD	PMID:38568856
ARIH1	Human	Soman	decreases expression	ISO	Arih1 (Rattus norvegicus)	6480464	Soman results in decreased expression of ARIH1 mRNA	CTD	PMID:19281266
ARIH1	Human	Soman	increases expression	ISO	Arih1 (Rattus norvegicus)	6480464	Soman results in increased expression of ARIH1 mRNA	CTD	PMID:19281266
ARIH1	Human	temozolomide	increases expression	EXP		6480464	Temozolomide results in increased expression of ARIH1 mRNA	CTD	PMID:31758290
ARIH1	Human	tetrachloromethane	increases expression	ISO	Arih1 (Mus musculus)	6480464	Carbon Tetrachloride results in increased expression of ARIH1 mRNA	CTD	PMID:17484886
ARIH1	Human	tetrahydropalmatine	decreases expression	EXP		6480464	tetrahydropalmatine results in decreased expression of ARIH1 protein	CTD	PMID:20109541
ARIH1	Human	thiram	increases expression	EXP		6480464	Thiram results in increased expression of ARIH1 mRNA	CTD	PMID:38568856
ARIH1	Human	titanium dioxide	decreases methylation	ISO	Arih1 (Mus musculus)	6480464	titanium dioxide results in decreased methylation of ARIH1 gene	CTD	PMID:35295148
ARIH1	Human	topotecan	decreases expression	ISO	Arih1 (Rattus norvegicus)	6480464	Topotecan results in decreased expression of ARIH1 mRNA	CTD	PMID:25729387
ARIH1	Human	topotecan	multiple interactions	ISO	Arih1 (Rattus norvegicus)	6480464	[oxaliplatin co-treated with Topotecan] results in decreased expression of ARIH1 mRNA	CTD	PMID:25729387
ARIH1	Human	trimellitic anhydride	increases expression	ISO	Arih1 (Mus musculus)	6480464	trimellitic anhydride results in increased expression of ARIH1 mRNA	CTD	PMID:19042947
ARIH1	Human	valproic acid	increases methylation	EXP		6480464	Valproic Acid results in increased methylation of ARIH1 gene	CTD	PMID:29154799
ARIH1	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of ARIH1 mRNA	CTD	PMID:25979313
ARIH1	Human	valproic acid	decreases expression	EXP		6480464	Valproic Acid results in decreased expression of ARIH1 mRNA	CTD	PMID:23179753
ARIH1	Human	vitamin E	decreases expression	EXP		6480464	Vitamin E results in decreased expression of ARIH1 mRNA	CTD	PMID:19244175
ARIH1	Human	zinc atom	multiple interactions	EXP		6480464	[PCI 5002 co-treated with Zinc] results in increased expression of ARIH1 mRNA	CTD	PMID:18593933
ARIH1	Human	zinc(0)	multiple interactions	EXP		6480464	[PCI 5002 co-treated with Zinc] results in increased expression of ARIH1 mRNA	CTD	PMID:18593933

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)
ARIH1	Human	PKR/eIFalpha signaling	involved_in	TAS		150520179		Reactome	Reactome:R-HSA-9833482
ARIH1	Human	protein ubiquitination	involved_in	IDA		150520179	PMID:14623119 more ...	UniProt	PMID:14623119 more ...
ARIH1	Human	protein ubiquitination	involved_in	IEA	InterPro:IPR031127	150520179		InterPro	GO_REF:0000002
ARIH1	Human	protein ubiquitination	involved_in	IEA	UniPathway:UPA00143	150520179		UniProt	GO_REF:0000041
ARIH1	Human	ubiquitin-dependent protein catabolic process	involved_in	TAS		150520179	PMID:10521492	UniProt	PMID:10521492
ARIH1	Human	ubiquitin-dependent protein catabolic process	acts_upstream_of_or_within	IEA	UniProtKB:Q9Z1K5 and ensembl:ENSMUSP00000126531	150520179		Ensembl	GO_REF:0000107
ARIH1	Human	ubiquitin-dependent protein catabolic process	involved_in	IBA	FB:FBgn0017418 more ...	150520179		GO_Central	GO_REF:0000033

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)
ARIH1	Human	Cajal body	located_in	IEA	UniProtKB-SubCell:SL-0031	150520179		UniProt	GO_REF:0000044
ARIH1	Human	Cul2-RING ubiquitin ligase complex	located_in	IDA		150520179	PMID:24076655	UniProt	PMID:24076655
ARIH1	Human	Cul2-RING ubiquitin ligase complex	NOT\|located_in	IDA		150520179	PMID:27565346	UniProt	PMID:27565346
ARIH1	Human	Cul3-RING ubiquitin ligase complex	located_in	IDA		150520179	PMID:24076655 and PMID:27565346	UniProt	PMID:24076655 and PMID:27565346
ARIH1	Human	Cul4A-RING E3 ubiquitin ligase complex	located_in	IDA		150520179	PMID:24076655	UniProt	PMID:24076655
ARIH1	Human	cytoplasm	is_active_in	IBA	FB:FBgn0017418 more ...	150520179		GO_Central	GO_REF:0000033
ARIH1	Human	cytoplasm	located_in	IDA		150520179	PMID:11278816 and PMID:23059369	UniProt	PMID:11278816 and PMID:23059369
ARIH1	Human	cytoplasm	located_in	IEA	UniProtKB-KW:KW-0963	150520179		UniProt	GO_REF:0000043
ARIH1	Human	cytoplasm	located_in	IEA	UniProtKB-SubCell:SL-0086	150520179		UniProt	GO_REF:0000044
ARIH1	Human	cytosol	located_in	TAS		150520179		Reactome	Reactome:R-HSA-1169394 more ...
ARIH1	Human	Lewy body	located_in	IDA		150520179	PMID:21590270	UniProt	PMID:21590270
ARIH1	Human	nuclear body	located_in	IDA		150520179	PMID:23059369	UniProt	PMID:23059369
ARIH1	Human	nucleoplasm	located_in	IDA		150520179		HPA	GO_REF:0000052
ARIH1	Human	nucleus	located_in	IEA	UniProtKB-SubCell:SL-0191	150520179		UniProt	GO_REF:0000044
ARIH1	Human	nucleus	is_active_in	IBA	FB:FBgn0017418 more ...	150520179		GO_Central	GO_REF:0000033
ARIH1	Human	nucleus	located_in	IEA	UniProtKB-KW:KW-0539	150520179		UniProt	GO_REF:0000043
ARIH1	Human	SCF ubiquitin ligase complex	located_in	IDA		150520179	PMID:24076655 and PMID:27565346	UniProt	PMID:24076655 and PMID:27565346
ARIH1	Human	ubiquitin ligase complex	part_of	TAS		150520179	PMID:10521492	UniProt	PMID:10521492
ARIH1	Human	ubiquitin ligase complex	part_of	IBA	PANTHER:PTN000188395 more ...	150520179		GO_Central	GO_REF:0000033

Molecular Function

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
ARIH1	Human	metal ion binding	enables	IEA	UniProtKB-KW:KW-0479	150520179		UniProt	GO_REF:0000043
ARIH1	Human	metal ion binding	enables	IEA	InterPro:IPR018957	150520179		InterPro	GO_REF:0000002
ARIH1	Human	protein binding	enables	IPI	UniProtKB:P13682 more ...	150520179	PMID:28514442 and PMID:33961781	IntAct	PMID:28514442 and PMID:33961781
ARIH1	Human	protein binding	enables	IPI	UniProtKB:P68036	150520179	PMID:10521492	UniProt	PMID:10521492
ARIH1	Human	protein binding	enables	IPI	UniProtKB:O60573	150520179	PMID:14623119	UniProt	PMID:14623119
ARIH1	Human	protein binding	enables	IPI	UniProtKB:P68036-1	150520179	PMID:21532592 and PMID:23707686	IntAct	PMID:21532592 and PMID:23707686
ARIH1	Human	protein binding	enables	IPI	UniProtKB:Q13616	150520179	PMID:21145461	IntAct	PMID:21145461
ARIH1	Human	protein binding	enables	IPI	UniProtKB:P68036 and UniProtKB:Q13616	150520179	PMID:24076655	IntAct	PMID:24076655
ARIH1	Human	transferase activity	enables	IEA	UniProtKB-KW:KW-0808	150520179		UniProt	GO_REF:0000043
ARIH1	Human	ubiquitin conjugating enzyme binding	enables	IPI	UniProtKB:P68036	150520179	PMID:23707686 more ...	UniProt	PMID:23707686 more ...
ARIH1	Human	ubiquitin conjugating enzyme binding	enables	IBA	FB:FBgn0017418 more ...	150520179		GO_Central	GO_REF:0000033
ARIH1	Human	ubiquitin protein ligase activity	enables	IBA	FB:FBgn0017418 more ...	150520179		GO_Central	GO_REF:0000033
ARIH1	Human	ubiquitin protein ligase binding	enables	IPI	UniProtKB:P68036	150520179	PMID:11278816 and PMID:21532592	UniProt	PMID:11278816 and PMID:21532592
ARIH1	Human	ubiquitin-like protein transferase activity	enables	TAS		150520179	PMID:10521492	UniProt	PMID:10521492
ARIH1	Human	ubiquitin-protein transferase activity	enables	IEA	InterPro:IPR031127	150520179		InterPro	GO_REF:0000002
ARIH1	Human	ubiquitin-protein transferase activity	enables	TAS		150520179		Reactome	Reactome:R-HSA-1169394 more ...
ARIH1	Human	ubiquitin-protein transferase activity	enables	IDA		150520179	PMID:14623119 more ...	UniProt	PMID:14623119 more ...
ARIH1	Human	zinc ion binding	enables	IEA	InterPro:IPR002867	150520179		InterPro	GO_REF:0000002
ARIH1	Human	zinc ion binding	enables	IEA	UniProtKB-KW:KW-0863	150520179		UniProt	GO_REF:0000043
ARIH1	Human	zinc ion binding	enables	IDA		150520179	PMID:15236971 and PMID:23707686	UniProt	PMID:15236971 and PMID:23707686

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
ARIH1	Human	Aortic aneurysm		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aortic aneurysm	ClinVar	PMID:29689197
ARIH1	Human	Aortic aneurysm		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aortic aneurysm	ClinVar	PMID:28492532 and PMID:29689197
ARIH1	Human	Aortic aneurysm		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aortic aneurysm	ClinVar	PMID:29689197
ARIH1	Human	Reduced beta-hexosaminidase A activity		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Hexosaminidase A Deficiency	ClinVar	PMID:1833974 more ...
ARIH1	Human	Reduced beta-hexosaminidase A activity		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Hexosaminidase A Deficiency	ClinVar	PMID:28492532

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:10521492	PMID:10880484	PMID:10926929	PMID:11124525	PMID:11124703	PMID:11278816	PMID:12234920	PMID:12477932	PMID:14623119	PMID:15236971	PMID:15489334	PMID:15963499
PMID:18654987	PMID:19615732	PMID:21145461	PMID:21532592	PMID:21590270	PMID:21873635	PMID:22037423	PMID:22268729	PMID:22863883	PMID:23022380	PMID:23059369	PMID:23383273
PMID:23707686	PMID:24023840	PMID:24058416	PMID:24076655	PMID:25277244	PMID:25332235	PMID:25515538	PMID:25624349	PMID:25900982	PMID:26186194	PMID:26760575	PMID:26831064
PMID:27312108	PMID:27565346	PMID:27716508	PMID:28514442	PMID:28552575	PMID:28611215	PMID:28786561	PMID:28790309	PMID:28930681	PMID:29117863	PMID:29229926	PMID:29311602
PMID:29643511	PMID:29689197	PMID:29955894	PMID:30033366	PMID:30244836	PMID:30587576	PMID:30884312	PMID:31253590	PMID:31285543	PMID:31822558	PMID:31868589	PMID:32246052
PMID:32416067	PMID:32513696	PMID:32687490	PMID:33187986	PMID:33462405	PMID:33536622	PMID:33545068	PMID:33607208	PMID:33658012	PMID:33853758	PMID:33879767	PMID:33961781
PMID:34373451	PMID:34729304	PMID:34857952	PMID:35102251	PMID:35256949	PMID:35509820	PMID:35563538	PMID:35671810	PMID:35716664	PMID:35831314	PMID:35944360	PMID:36114006
PMID:36215168	PMID:36629882	PMID:36717926	PMID:36758106	PMID:37005687	PMID:37028429	PMID:37460470	PMID:37495603	PMID:37827155	PMID:38386664	PMID:38803224

ARIH1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	15	72,474,330 - 72,602,987 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	15	72,474,330 - 72,602,987 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	15	72,766,671 - 72,895,328 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	15	70,553,721 - 70,662,877 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	15	70,553,720 - 70,662,877	NCBI
Celera	15	49,652,768 - 49,763,614 (+)	NCBI		Celera
Cytogenetic Map	15	q24.1	NCBI
HuRef	15	49,597,019 - 49,709,554 (+)	NCBI		HuRef
CHM1_1	15	72,884,658 - 72,996,840 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	15	70,291,593 - 70,420,271 (+)	NCBI		T2T-CHM13v2.0

Arih1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	9	59,295,837 - 59,395,469 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	9	59,295,541 - 59,393,901 (-)	Ensembl		GRCm39 Ensembl
GRCm38	9	59,388,554 - 59,488,186 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	9	59,388,258 - 59,486,618 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	9	59,236,361 - 59,334,181 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	9	59,190,602 - 59,284,291 (-)	NCBI		MGSCv36	mm8
Celera	9	56,615,709 - 56,713,470 (-)	NCBI		Celera
Cytogenetic Map	9	B	NCBI
cM Map	9	32.01	NCBI

Arih1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	8	68,673,199 - 68,775,648 (-)	NCBI		GRCr8
mRatBN7.2	8	59,777,378 - 59,879,762 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	8	59,777,379 - 59,880,245 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	8	65,301,933 - 65,403,940 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	8	63,574,949 - 63,676,955 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	8	61,444,284 - 61,546,293 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	8	64,166,359 - 64,268,555 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	8	64,166,360 - 64,268,555 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	8	63,928,309 - 64,030,505 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	8	63,201,871 - 63,305,302 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	8	63,223,929 - 63,324,356 (-)	NCBI
Celera	8	59,219,248 - 59,321,584 (-)	NCBI		Celera
Cytogenetic Map	8	q24	NCBI

Arih1
(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_004955450	4,683,118 - 4,737,994 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955450	4,683,118 - 4,737,793 (-)	NCBI	ChiLan1.0	ChiLan1.0

ARIH1
(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	16	61,736,831 - 61,847,988 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	15	65,901,074 - 66,012,216 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	15	51,423,132 - 51,534,278 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1 Ensembl	15	70,187,722 - 70,297,226 (+)	Ensembl	panpan1.1		panPan2

ARIH1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	30	35,927,277 - 36,040,168 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	30	35,927,233 - 36,108,381 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	30	35,863,589 - 35,988,001 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	30	36,133,344 - 36,257,840 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	30	36,133,366 - 36,246,243 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	30	36,084,559 - 36,202,242 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	30	36,112,246 - 36,236,422 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	30	36,367,971 - 36,492,251 (+)	NCBI		UU_Cfam_GSD_1.0

Arih1
(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_024408640	113,974,529 - 114,102,322 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936471	31,822,592 - 31,947,624 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936471	31,822,592 - 31,947,624 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ARIH1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	7	60,710,051 - 60,824,101 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	7	60,707,483 - 60,824,117 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	7	65,167,891 - 65,209,110 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ARIH1
(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	26	10,890,440 - 11,002,812 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	26	10,893,735 - 11,002,159 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666048	130,582,412 - 130,699,103 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Arih1
(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 1.0	NW_004624781	1,567,343 - 1,665,766 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in ARIH1
172 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_005744.5(ARIH1):c.511C>T (p.Arg171Ter)	single nucleotide variant	Aortic aneurysm [RCV001291430]	Chr15:72544887 [GRCh38] Chr15:72837228 [GRCh37] Chr15:15q24.1	association
GRCh38/hg38 15q23-24.1(chr15:68830574-73823337)x1	copy number loss	See cases [RCV000050780]	Chr15:68830574..73823337 [GRCh38] Chr15:69122913..74115678 [GRCh37] Chr15:66909967..71902731 [NCBI36] Chr15:15q23-24.1	pathogenic
GRCh38/hg38 15q23-24.1(chr15:72058544-72481033)x3	copy number gain	See cases [RCV000052106]	Chr15:72058544..72481033 [GRCh38] Chr15:72350885..72773374 [GRCh37] Chr15:70137939..70560428 [NCBI36] Chr15:15q23-24.1	uncertain significance
GRCh38/hg38 15q23-24.2(chr15:70788624-76057736)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053219]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053219]\|See cases [RCV000053219]	Chr15:70788624..76057736 [GRCh38] Chr15:71080963..76350077 [GRCh37] Chr15:68868017..74137132 [NCBI36] Chr15:15q23-24.2	pathogenic
NM_005744.5(ARIH1):c.43G>C (p.Glu15Gln)	single nucleotide variant	Aortic aneurysm [RCV001291053]	Chr15:72474682 [GRCh38] Chr15:72767023 [GRCh37] Chr15:15q24.1	association
NM_005744.5(ARIH1):c.131A>G (p.Glu44Gly)	single nucleotide variant	Aortic aneurysm [RCV001291431]\|not provided [RCV002538397]	Chr15:72474770 [GRCh38] Chr15:72767111 [GRCh37] Chr15:15q24.1	association\|uncertain significance
GRCh38/hg38 15q23-24.1(chr15:72366869-72671688)x1	copy number loss	See cases [RCV000136699]	Chr15:72366869..72671688 [GRCh38] Chr15:72659210..72964029 [GRCh37] Chr15:70446264..70751082 [NCBI36] Chr15:15q23-24.1	pathogenic\|uncertain significance
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	copy number gain	See cases [RCV000143019]	Chr15:72154949..101920998 [GRCh38] Chr15:72447290..102461201 [GRCh37] Chr15:70234344..100278724 [NCBI36] Chr15:15q23-26.3	pathogenic
GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	copy number loss	See cases [RCV000141666]	Chr15:70025300..78705993 [GRCh38] Chr15:70317639..78998335 [GRCh37] Chr15:68104693..76785390 [NCBI36] Chr15:15q23-25.1	pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	copy number gain	See cases [RCV000142915]	Chr15:59828460..101920998 [GRCh38] Chr15:60120659..102461201 [GRCh37] Chr15:57907951..100278724 [NCBI36] Chr15:15q22.2-26.3	pathogenic
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	copy number gain	See cases [RCV000240602]	Chr15:64637227..102509910 [GRCh37] Chr15:15q22.31-26.3	pathogenic
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	copy number gain	not provided [RCV000415836]	Chr15:59297293..102480888 [GRCh37] Chr15:15q22.1-26.3	likely pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	copy number gain	See cases [RCV000447123]	Chr15:41745084..102354798 [GRCh37] Chr15:15q15.1-26.3	pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	copy number gain	See cases [RCV000447765]	Chr15:20733395..102511616 [GRCh37] Chr15:15q11.2-26.3	pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	copy number gain	See cases [RCV000510717]	Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3	pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	copy number gain	See cases [RCV000512019]	Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3	pathogenic
Single allele	duplication	not provided [RCV000677926]	Chr15:31115047..102354857 [GRCh37] Chr15:15q13.2-26.3	pathogenic
NM_005744.5(ARIH1):c.237CGG[8] (p.Gly90dup)	microsatellite	ARIH1-related disorder [RCV003970251]\|not provided [RCV002056684]\|not specified [RCV000455671]	Chr15:72474873..72474874 [GRCh38] Chr15:72767214..72767215 [GRCh37] Chr15:15q24.1	benign
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	copy number gain	not provided [RCV000683703]	Chr15:71329220..102270758 [GRCh37] Chr15:15q23-26.3	pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3	copy number gain	not provided [RCV000751155]	Chr15:20016811..102493540 [GRCh37] Chr15:15q11.1-26.3	pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3	copy number gain	not provided [RCV000751156]	Chr15:20071673..102461162 [GRCh37] Chr15:15q11.1-26.3	pathogenic
GRCh37/hg19 15q24.1(chr15:72825914-73067234)x1	copy number loss	not provided [RCV000846690]	Chr15:72825914..73067234 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.1005T>C (p.Asn335=)	single nucleotide variant	not provided [RCV003106518]	Chr15:72567156 [GRCh38] Chr15:72859497 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.322C>G (p.Gln108Glu)	single nucleotide variant	not specified [RCV004304925]	Chr15:72474961 [GRCh38] Chr15:72767302 [GRCh37] Chr15:15q24.1	uncertain significance
NC_000015.9:g.(?_32964879)_(91358519_?)dup	duplication	Bloom syndrome [RCV001343104]\|Familial colorectal cancer [RCV001325176]	Chr15:32964879..91358519 [GRCh37] Chr15:15q13.3-26.1	uncertain significance
NM_005744.5(ARIH1):c.384A>G (p.Ala128=)	single nucleotide variant	not provided [RCV005061953]	Chr15:72518075 [GRCh38] Chr15:72810416 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.44A>C (p.Glu15Ala)	single nucleotide variant	not provided [RCV001988563]	Chr15:72474683 [GRCh38] Chr15:72767024 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.261T>C (p.Gly87=)	single nucleotide variant	not provided [RCV001983022]	Chr15:72474900 [GRCh38] Chr15:72767241 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.84G>C (p.Glu28Asp)	single nucleotide variant	not provided [RCV001891922]	Chr15:72474723 [GRCh38] Chr15:72767064 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.753T>A (p.Asp251Glu)	single nucleotide variant	not provided [RCV001928854]	Chr15:72561498 [GRCh38] Chr15:72853839 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.285G>T (p.Gln95His)	single nucleotide variant	not provided [RCV001912268]	Chr15:72474924 [GRCh38] Chr15:72767265 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.252_263del (p.Gly87_Gly90del)	deletion	not provided [RCV001872612]	Chr15:72474889..72474900 [GRCh38] Chr15:72767230..72767241 [GRCh37] Chr15:15q24.1	uncertain significance
NC_000015.9:g.(?_72766981)_(72875633_?)dup	duplication	not provided [RCV001979930]	Chr15:72766981..72875633 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.234_239dup (p.Gly89_Gly90dup)	duplication	not provided [RCV001938951]	Chr15:72474867..72474868 [GRCh38] Chr15:72767208..72767209 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.237CGG[10] (p.Gly88_Gly90dup)	microsatellite	not provided [RCV001941356]	Chr15:72474873..72474874 [GRCh38] Chr15:72767214..72767215 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.237CGG[5] (p.Gly89_Gly90del)	microsatellite	not provided [RCV002001419]	Chr15:72474874..72474879 [GRCh38] Chr15:72767215..72767220 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.249_260del (p.Gly87_Gly90del)	deletion	not provided [RCV002029026]	Chr15:72474886..72474897 [GRCh38] Chr15:72767227..72767238 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.237CGG[11] (p.Gly87_Gly90dup)	microsatellite	not provided [RCV002012803]	Chr15:72474873..72474874 [GRCh38] Chr15:72767214..72767215 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.638G>A (p.Ser213Asn)	single nucleotide variant	not provided [RCV001897808]	Chr15:72555320 [GRCh38] Chr15:72847661 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.517C>T (p.Arg173Cys)	single nucleotide variant	not provided [RCV001991254]	Chr15:72544893 [GRCh38] Chr15:72837234 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.77A>G (p.Glu26Gly)	single nucleotide variant	not provided [RCV001879113]	Chr15:72474716 [GRCh38] Chr15:72767057 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.237CGG[9] (p.Gly89_Gly90dup)	microsatellite	ARIH1-related disorder [RCV003923339]\|not provided [RCV002046810]	Chr15:72474873..72474874 [GRCh38] Chr15:72767214..72767215 [GRCh37] Chr15:15q24.1	likely benign\|uncertain significance
NC_000015.9:g.(?_72103084)_(74244178_?)del	deletion	Tay-Sachs disease [RCV001972852]	Chr15:72103084..74244178 [GRCh37] Chr15:15q23-24.1	pathogenic
NM_005744.5(ARIH1):c.576C>A (p.Asn192Lys)	single nucleotide variant	not provided [RCV001902386]	Chr15:72544952 [GRCh38] Chr15:72837293 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.261_269dup (p.Gly88_Gly90dup)	duplication	not provided [RCV001917267]	Chr15:72474897..72474898 [GRCh38] Chr15:72767238..72767239 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.543A>G (p.Ala181=)	single nucleotide variant	not provided [RCV001958941]	Chr15:72544919 [GRCh38] Chr15:72837260 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.299G>A (p.Arg100His)	single nucleotide variant	not provided [RCV001999280]	Chr15:72474938 [GRCh38] Chr15:72767279 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.252_260dup (p.Gly88_Gly90dup)	duplication	not provided [RCV002013060]	Chr15:72474888..72474889 [GRCh38] Chr15:72767229..72767230 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.237CGG[3] (p.Gly87_Gly90del)	microsatellite	not provided [RCV001903668]	Chr15:72474874..72474885 [GRCh38] Chr15:72767215..72767226 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.536C>T (p.Ser179Leu)	single nucleotide variant	not provided [RCV001998151]	Chr15:72544912 [GRCh38] Chr15:72837253 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.237CGG[4] (p.Gly88_Gly90del)	microsatellite	ARIH1-related disorder [RCV003948822]\|not provided [RCV001921382]	Chr15:72474874..72474882 [GRCh38] Chr15:72767215..72767223 [GRCh37] Chr15:15q24.1	likely benign\|uncertain significance
NM_005744.5(ARIH1):c.227C>T (p.Pro76Leu)	single nucleotide variant	not provided [RCV001933540]	Chr15:72474866 [GRCh38] Chr15:72767207 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.1518G>A (p.Ser506=)	single nucleotide variant	not provided [RCV002090510]	Chr15:72582116 [GRCh38] Chr15:72874457 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.375+19C>T	single nucleotide variant	not provided [RCV002130458]	Chr15:72475033 [GRCh38] Chr15:72767374 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.876T>C (p.Ala292=)	single nucleotide variant	not provided [RCV002076174]	Chr15:72563465 [GRCh38] Chr15:72855806 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.681+10T>G	single nucleotide variant	not provided [RCV002088072]	Chr15:72555373 [GRCh38] Chr15:72847714 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.795C>T (p.Ser265=)	single nucleotide variant	not provided [RCV002090703]	Chr15:72561540 [GRCh38] Chr15:72853881 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.258T>C (p.Gly86=)	single nucleotide variant	not provided [RCV002186147]	Chr15:72474897 [GRCh38] Chr15:72767238 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.75GGA[3] (p.Glu28del)	microsatellite	ARIH1-related disorder [RCV003913564]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003485760]\|not provided [RCV002185580]	Chr15:72474712..72474714 [GRCh38] Chr15:72767053..72767055 [GRCh37] Chr15:15q24.1	benign\|likely benign
NM_005744.5(ARIH1):c.633C>T (p.Cys211=)	single nucleotide variant	ARIH1-related disorder [RCV003923766]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003485766]\|not provided [RCV002150693]	Chr15:72555315 [GRCh38] Chr15:72847656 [GRCh37] Chr15:15q24.1	benign
NM_005744.5(ARIH1):c.342G>A (p.Val114=)	single nucleotide variant	not provided [RCV002169441]	Chr15:72474981 [GRCh38] Chr15:72767322 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.1011T>C (p.Ile337=)	single nucleotide variant	not provided [RCV002080418]	Chr15:72567162 [GRCh38] Chr15:72859503 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.588+9C>T	single nucleotide variant	not provided [RCV002117133]	Chr15:72544973 [GRCh38] Chr15:72837314 [GRCh37] Chr15:15q24.1	benign
NM_005744.5(ARIH1):c.1122G>A (p.Val374=)	single nucleotide variant	not provided [RCV002094713]	Chr15:72570272 [GRCh38] Chr15:72862613 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.911+14T>C	single nucleotide variant	not provided [RCV002093269]	Chr15:72563514 [GRCh38] Chr15:72855855 [GRCh37] Chr15:15q24.1	benign
NM_005744.5(ARIH1):c.804+14T>C	single nucleotide variant	not provided [RCV002144764]	Chr15:72561563 [GRCh38] Chr15:72853904 [GRCh37] Chr15:15q24.1	benign
NM_005744.5(ARIH1):c.57GGA[1] (p.Glu20del)	microsatellite	not provided [RCV002174265]	Chr15:72474694..72474696 [GRCh38] Chr15:72767035..72767037 [GRCh37] Chr15:15q24.1	benign
NM_005744.5(ARIH1):c.267_269dup (p.Gly90dup)	duplication	not provided [RCV002168027]	Chr15:72474903..72474904 [GRCh38] Chr15:72767244..72767245 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.1026+11del	deletion	not provided [RCV002128451]	Chr15:72567185 [GRCh38] Chr15:72859526 [GRCh37] Chr15:15q24.1	benign
NM_005744.5(ARIH1):c.912-14G>A	single nucleotide variant	not provided [RCV002131796]	Chr15:72566549 [GRCh38] Chr15:72858890 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.264T>C (p.Gly88=)	single nucleotide variant	ARIH1-related disorder [RCV004758221]\|not provided [RCV002179159]	Chr15:72474903 [GRCh38] Chr15:72767244 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.912-16T>C	single nucleotide variant	not provided [RCV002217471]	Chr15:72566547 [GRCh38] Chr15:72858888 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.738-14A>T	single nucleotide variant	not provided [RCV002157085]	Chr15:72561469 [GRCh38] Chr15:72853810 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.376-16T>C	single nucleotide variant	not provided [RCV002120997]	Chr15:72518051 [GRCh38] Chr15:72810392 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.966A>G (p.Lys322=)	single nucleotide variant	not provided [RCV002160092]	Chr15:72567117 [GRCh38] Chr15:72859458 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.681+6G>A	single nucleotide variant	ARIH1-related disorder [RCV003923809]\|not provided [RCV002156660]	Chr15:72555369 [GRCh38] Chr15:72847710 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.955-18G>A	single nucleotide variant	not provided [RCV002124250]	Chr15:72567088 [GRCh38] Chr15:72859429 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.21C>T (p.Tyr7=)	single nucleotide variant	not provided [RCV002176144]	Chr15:72474660 [GRCh38] Chr15:72767001 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.216C>T (p.Ser72=)	single nucleotide variant	not provided [RCV002098183]	Chr15:72474855 [GRCh38] Chr15:72767196 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.738-20A>G	single nucleotide variant	not provided [RCV002121555]	Chr15:72561463 [GRCh38] Chr15:72853804 [GRCh37] Chr15:15q24.1	benign
NM_005744.5(ARIH1):c.165C>T (p.Gly55=)	single nucleotide variant	not provided [RCV002098575]	Chr15:72474804 [GRCh38] Chr15:72767145 [GRCh37] Chr15:15q24.1	benign
NM_005744.5(ARIH1):c.375+7G>A	single nucleotide variant	not provided [RCV002122105]	Chr15:72475021 [GRCh38] Chr15:72767362 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.231C>T (p.Gly77=)	single nucleotide variant	not provided [RCV002181904]	Chr15:72474870 [GRCh38] Chr15:72767211 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.1428T>C (p.Tyr476=)	single nucleotide variant	not provided [RCV002102853]	Chr15:72580943 [GRCh38] Chr15:72873284 [GRCh37] Chr15:15q24.1	likely benign
NC_000015.9:g.(?_72847592)_(72875633_?)dup	duplication	not provided [RCV003116425]	Chr15:72847592..72875633 [GRCh37] Chr15:15q24.1	uncertain significance
NC_000015.9:g.(?_72636418)_(73660611_?)dup	duplication	Tay-Sachs disease [RCV003111340]	Chr15:72636418..73660611 [GRCh37] Chr15:15q23-24.1	uncertain significance
NM_005744.5(ARIH1):c.846C>T (p.His282=)	single nucleotide variant	not provided [RCV003114995]	Chr15:72563435 [GRCh38] Chr15:72855776 [GRCh37] Chr15:15q24.1	likely benign
NC_000015.9:g.(?_72847592)_(73660611_?)dup	duplication	Brugada syndrome 8 [RCV003116373]	Chr15:72847592..73660611 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.169G>C (p.Glu57Gln)	single nucleotide variant	not provided [RCV002750268]	Chr15:72474808 [GRCh38] Chr15:72767149 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.1589+5T>A	single nucleotide variant	not provided [RCV002881075]	Chr15:72582192 [GRCh38] Chr15:72874533 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.540A>G (p.Ser180=)	single nucleotide variant	not provided [RCV002686096]	Chr15:72544916 [GRCh38] Chr15:72837257 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.1629G>T (p.Val543=)	single nucleotide variant	not provided [RCV002617488]	Chr15:72583247 [GRCh38] Chr15:72875588 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.75GGA[5] (p.Glu28_Asp29insGlu)	microsatellite	not provided [RCV002947780]	Chr15:72474711..72474712 [GRCh38] Chr15:72767052..72767053 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.1561A>G (p.Ile521Val)	single nucleotide variant	not provided [RCV002815560]	Chr15:72582159 [GRCh38] Chr15:72874500 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.300C>G (p.Arg100=)	single nucleotide variant	not provided [RCV002614796]	Chr15:72474939 [GRCh38] Chr15:72767280 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.129C>A (p.Gly43=)	single nucleotide variant	not provided [RCV002662864]	Chr15:72474768 [GRCh38] Chr15:72767109 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.1215+9A>G	single nucleotide variant	ARIH1-related disorder [RCV003916622]\|not provided [RCV002914264]	Chr15:72572174 [GRCh38] Chr15:72864515 [GRCh37] Chr15:15q24.1	benign\|likely benign
NM_005744.5(ARIH1):c.1590-12C>T	single nucleotide variant	not provided [RCV002572021]	Chr15:72583196 [GRCh38] Chr15:72875537 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.1044T>C (p.His348=)	single nucleotide variant	not provided [RCV003080067]	Chr15:72570194 [GRCh38] Chr15:72862535 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.804+10T>A	single nucleotide variant	not provided [RCV003037511]	Chr15:72561559 [GRCh38] Chr15:72853900 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.376-9C>G	single nucleotide variant	not provided [RCV002820869]	Chr15:72518058 [GRCh38] Chr15:72810399 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.77A>T (p.Glu26Val)	single nucleotide variant	not specified [RCV004145658]	Chr15:72474716 [GRCh38] Chr15:72767057 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.229G>A (p.Gly77Ser)	single nucleotide variant	not provided [RCV002867545]	Chr15:72474868 [GRCh38] Chr15:72767209 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.250G>A (p.Gly84Ser)	single nucleotide variant	not provided [RCV002592379]	Chr15:72474889 [GRCh38] Chr15:72767230 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.1589+13dup	duplication	not provided [RCV002949177]	Chr15:72582191..72582192 [GRCh38] Chr15:72874532..72874533 [GRCh37] Chr15:15q24.1	benign
NM_005744.5(ARIH1):c.333A>G (p.Gln111=)	single nucleotide variant	not provided [RCV002740010]	Chr15:72474972 [GRCh38] Chr15:72767313 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.258TGG[4] (p.Gly90_Pro91insGly)	microsatellite	not provided [RCV002923032]	Chr15:72474894..72474895 [GRCh38] Chr15:72767235..72767236 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.538T>A (p.Ser180Thr)	single nucleotide variant	not provided [RCV003080519]	Chr15:72544914 [GRCh38] Chr15:72837255 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.804+7G>A	single nucleotide variant	not provided [RCV002658664]	Chr15:72561556 [GRCh38] Chr15:72853897 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.1158-12A>C	single nucleotide variant	not provided [RCV002795457]	Chr15:72572096 [GRCh38] Chr15:72864437 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.512G>A (p.Arg171Gln)	single nucleotide variant	not provided [RCV002626675]	Chr15:72544888 [GRCh38] Chr15:72837229 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.375+12C>T	single nucleotide variant	not provided [RCV002626294]	Chr15:72475026 [GRCh38] Chr15:72767367 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.257_258insCGGTGGTGG (p.Gly90_Pro91insGlyGlyGly)	insertion	not provided [RCV002805372]	Chr15:72474894..72474895 [GRCh38] Chr15:72767235..72767236 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.912-5A>C	single nucleotide variant	not provided [RCV002643278]	Chr15:72566558 [GRCh38] Chr15:72858899 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.805-4T>A	single nucleotide variant	not provided [RCV002829580]	Chr15:72563390 [GRCh38] Chr15:72855731 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.739C>T (p.Arg247Cys)	single nucleotide variant	not provided [RCV002650017]	Chr15:72561484 [GRCh38] Chr15:72853825 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.376-12del	deletion	not provided [RCV002598375]	Chr15:72518052 [GRCh38] Chr15:72810393 [GRCh37] Chr15:15q24.1	benign
NM_005744.5(ARIH1):c.1158-20T>C	single nucleotide variant	not provided [RCV002717300]	Chr15:72572088 [GRCh38] Chr15:72864429 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.255_263del (p.Gly88_Gly90del)	deletion	not provided [RCV002715635]	Chr15:72474892..72474900 [GRCh38] Chr15:72767233..72767241 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.1132C>T (p.Pro378Ser)	single nucleotide variant	not provided [RCV002899487]	Chr15:72570282 [GRCh38] Chr15:72862623 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.83A>G (p.Glu28Gly)	single nucleotide variant	not provided [RCV002715853]	Chr15:72474722 [GRCh38] Chr15:72767063 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.1531C>A (p.Arg511=)	single nucleotide variant	not provided [RCV003087298]	Chr15:72582129 [GRCh38] Chr15:72874470 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.108C>T (p.Asp36=)	single nucleotide variant	not provided [RCV002715127]	Chr15:72474747 [GRCh38] Chr15:72767088 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.1164C>T (p.Asn388=)	single nucleotide variant	not provided [RCV002720045]	Chr15:72572114 [GRCh38] Chr15:72864455 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.955-18G>C	single nucleotide variant	not provided [RCV003026282]	Chr15:72567088 [GRCh38] Chr15:72859429 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.258TGG[1] (p.Gly89_Gly90del)	microsatellite	not provided [RCV002576586]	Chr15:72474895..72474900 [GRCh38] Chr15:72767236..72767241 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.366G>A (p.Glu122=)	single nucleotide variant	not provided [RCV003009016]	Chr15:72475005 [GRCh38] Chr15:72767346 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.1230C>T (p.Ala410=)	single nucleotide variant	not provided [RCV003032159]	Chr15:72580745 [GRCh38] Chr15:72873086 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.257G>T (p.Gly86Val)	single nucleotide variant	not provided [RCV003068525]	Chr15:72474896 [GRCh38] Chr15:72767237 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.1590-20T>C	single nucleotide variant	not provided [RCV002943225]	Chr15:72583188 [GRCh38] Chr15:72875529 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.880C>A (p.Pro294Thr)	single nucleotide variant	not provided [RCV002605502]	Chr15:72563469 [GRCh38] Chr15:72855810 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.116C>T (p.Thr39Ile)	single nucleotide variant	not provided [RCV002582378]	Chr15:72474755 [GRCh38] Chr15:72767096 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.303C>T (p.Tyr101=)	single nucleotide variant	not provided [RCV002680678]	Chr15:72474942 [GRCh38] Chr15:72767283 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.681+7A>G	single nucleotide variant	not provided [RCV003073076]	Chr15:72555370 [GRCh38] Chr15:72847711 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.625A>G (p.Met209Val)	single nucleotide variant	not provided [RCV002612497]	Chr15:72555307 [GRCh38] Chr15:72847648 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.1590-17_1590-9del	deletion	not provided [RCV003049619]	Chr15:72583188..72583196 [GRCh38] Chr15:72875529..72875537 [GRCh37] Chr15:15q24.1	likely benign
GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	copy number gain	not provided [RCV003222839]	Chr15:67358491..91644328 [GRCh37] Chr15:15q22.33-26.1	pathogenic
NM_005744.5(ARIH1):c.506A>G (p.Lys169Arg)	single nucleotide variant	not specified [RCV004265698]	Chr15:72544882 [GRCh38] Chr15:72837223 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.383C>G (p.Ala128Gly)	single nucleotide variant	not provided [RCV003322157]	Chr15:72518074 [GRCh38] Chr15:72810415 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.1660T>G (p.Tyr554Asp)	single nucleotide variant	not specified [RCV004357355]	Chr15:72583278 [GRCh38] Chr15:72875619 [GRCh37] Chr15:15q24.1	uncertain significance
GRCh37/hg19 15q23-24.1(chr15:72592846-72826183)x1	copy number loss	not provided [RCV003483240]	Chr15:72592846..72826183 [GRCh37] Chr15:15q23-24.1	uncertain significance
NM_005744.5(ARIH1):c.971T>C (p.Ile324Thr)	single nucleotide variant	not provided [RCV003547483]	Chr15:72567122 [GRCh38] Chr15:72859463 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.257_258insCGGTGG (p.Gly90_Pro91insGlyGly)	insertion	not provided [RCV003827469]	Chr15:72474894..72474895 [GRCh38] Chr15:72767235..72767236 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.510T>C (p.Ser170=)	single nucleotide variant	not provided [RCV003578893]	Chr15:72544886 [GRCh38] Chr15:72837227 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.954+10_954+13del	deletion	not provided [RCV003831771]	Chr15:72566613..72566616 [GRCh38] Chr15:72858954..72858957 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.106G>T (p.Asp36Tyr)	single nucleotide variant	not provided [RCV003691523]	Chr15:72474745 [GRCh38] Chr15:72767086 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.267C>T (p.Gly89=)	single nucleotide variant	not provided [RCV003547799]	Chr15:72474906 [GRCh38] Chr15:72767247 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.375+17C>A	single nucleotide variant	not provided [RCV003576430]	Chr15:72475031 [GRCh38] Chr15:72767372 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.955-20C>A	single nucleotide variant	not provided [RCV003695618]	Chr15:72567086 [GRCh38] Chr15:72859427 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.1134A>C (p.Pro378=)	single nucleotide variant	not provided [RCV003690903]	Chr15:72570284 [GRCh38] Chr15:72862625 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.234T>G (p.Gly78=)	single nucleotide variant	Familial thoracic aortic aneurysm and aortic dissection [RCV003486436]	Chr15:72474873 [GRCh38] Chr15:72767214 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.584A>C (p.Asn195Thr)	single nucleotide variant	not provided [RCV003663504]	Chr15:72544960 [GRCh38] Chr15:72837301 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.1661A>G (p.Tyr554Cys)	single nucleotide variant	not provided [RCV003547640]	Chr15:72583279 [GRCh38] Chr15:72875620 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.210C>G (p.Gly70=)	single nucleotide variant	not provided [RCV003698634]	Chr15:72474849 [GRCh38] Chr15:72767190 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.376-7T>G	single nucleotide variant	not provided [RCV003663688]	Chr15:72518060 [GRCh38] Chr15:72810401 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.77A>C (p.Glu26Ala)	single nucleotide variant	not provided [RCV003849967]	Chr15:72474716 [GRCh38] Chr15:72767057 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.661A>G (p.Met221Val)	single nucleotide variant	not provided [RCV003717685]	Chr15:72555343 [GRCh38] Chr15:72847684 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.234_242dup (p.Gly90_Pro91insGlyGlyGly)	duplication	not provided [RCV003851853]	Chr15:72474866..72474867 [GRCh38] Chr15:72767207..72767208 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.375+13G>A	single nucleotide variant	not provided [RCV003669656]	Chr15:72475027 [GRCh38] Chr15:72767368 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.232G>A (p.Gly78Ser)	single nucleotide variant	not provided [RCV003816781]	Chr15:72474871 [GRCh38] Chr15:72767212 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.60G>C (p.Glu20Asp)	single nucleotide variant	not provided [RCV003703683]	Chr15:72474699 [GRCh38] Chr15:72767040 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.681+10T>C	single nucleotide variant	not provided [RCV003726168]	Chr15:72555373 [GRCh38] Chr15:72847714 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.912-9A>C	single nucleotide variant	not provided [RCV003725618]	Chr15:72566554 [GRCh38] Chr15:72858895 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.318C>T (p.Ala106=)	single nucleotide variant	not provided [RCV003840074]	Chr15:72474957 [GRCh38] Chr15:72767298 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.1416C>T (p.Leu472=)	single nucleotide variant	not provided [RCV003669601]	Chr15:72580931 [GRCh38] Chr15:72873272 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.681+16T>C	single nucleotide variant	not provided [RCV003835627]	Chr15:72555379 [GRCh38] Chr15:72847720 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.748A>C (p.Thr250Pro)	single nucleotide variant	not provided [RCV003854602]	Chr15:72561493 [GRCh38] Chr15:72853834 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.486T>C (p.His162=)	single nucleotide variant	not provided [RCV003717157]	Chr15:72544862 [GRCh38] Chr15:72837203 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.1609A>C (p.Arg537=)	single nucleotide variant	not provided [RCV003702663]	Chr15:72583227 [GRCh38] Chr15:72875568 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.955-18G>T	single nucleotide variant	not provided [RCV003833478]	Chr15:72567088 [GRCh38] Chr15:72859429 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.1125T>C (p.Cys375=)	single nucleotide variant	not provided [RCV003702313]	Chr15:72570275 [GRCh38] Chr15:72862616 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.681+17G>A	single nucleotide variant	not provided [RCV003568628]	Chr15:72555380 [GRCh38] Chr15:72847721 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.117C>T (p.Thr39=)	single nucleotide variant	not provided [RCV003858358]	Chr15:72474756 [GRCh38] Chr15:72767097 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.1134A>G (p.Pro378=)	single nucleotide variant	not provided [RCV003704674]	Chr15:72570284 [GRCh38] Chr15:72862625 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.312C>T (p.Leu104=)	single nucleotide variant	not provided [RCV003729929]	Chr15:72474951 [GRCh38] Chr15:72767292 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.646T>C (p.Leu216=)	single nucleotide variant	not provided [RCV003567040]	Chr15:72555328 [GRCh38] Chr15:72847669 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.271C>T (p.Pro91Ser)	single nucleotide variant	not provided [RCV003732983]	Chr15:72474910 [GRCh38] Chr15:72767251 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.158G>A (p.Gly53Asp)	single nucleotide variant	not provided [RCV003679493]	Chr15:72474797 [GRCh38] Chr15:72767138 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.1552C>T (p.Leu518=)	single nucleotide variant	not provided [RCV003859207]	Chr15:72582150 [GRCh38] Chr15:72874491 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.450T>C (p.Phe150=)	single nucleotide variant	not provided [RCV003852991]	Chr15:72544826 [GRCh38] Chr15:72837167 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.191G>C (p.Gly64Ala)	single nucleotide variant	not provided [RCV003707321]	Chr15:72474830 [GRCh38] Chr15:72767171 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.651T>C (p.Thr217=)	single nucleotide variant	not provided [RCV003847231]	Chr15:72555333 [GRCh38] Chr15:72847674 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.108C>A (p.Asp36Glu)	single nucleotide variant	not provided [RCV003675410]	Chr15:72474747 [GRCh38] Chr15:72767088 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.1215+10T>C	single nucleotide variant	not provided [RCV003675070]	Chr15:72572175 [GRCh38] Chr15:72864516 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.912-8C>A	single nucleotide variant	not provided [RCV003685308]	Chr15:72566555 [GRCh38] Chr15:72858896 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.240_263del (p.Gly83_Gly90del)	deletion	not provided [RCV003865676]	Chr15:72474877..72474900 [GRCh38] Chr15:72767218..72767241 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.1215+15A>G	single nucleotide variant	not provided [RCV003684482]	Chr15:72572180 [GRCh38] Chr15:72864521 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.589-19T>A	single nucleotide variant	not provided [RCV003848034]	Chr15:72555252 [GRCh38] Chr15:72847593 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.249_260dup (p.Gly90_Pro91insGlyGlyGlyGly)	duplication	not provided [RCV003553055]	Chr15:72474885..72474886 [GRCh38] Chr15:72767226..72767227 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.1239G>A (p.Arg413=)	single nucleotide variant	not provided [RCV003557189]	Chr15:72580754 [GRCh38] Chr15:72873095 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.990C>T (p.Asp330=)	single nucleotide variant	not provided [RCV003865403]	Chr15:72567141 [GRCh38] Chr15:72859482 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.468G>A (p.Lys156=)	single nucleotide variant	not provided [RCV003853270]	Chr15:72544844 [GRCh38] Chr15:72837185 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.1495G>C (p.Glu499Gln)	single nucleotide variant	not provided [RCV003853840]	Chr15:72582093 [GRCh38] Chr15:72874434 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.460C>G (p.Leu154Val)	single nucleotide variant	not provided [RCV003867707]	Chr15:72544836 [GRCh38] Chr15:72837177 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.682-15T>A	single nucleotide variant	not provided [RCV003823081]	Chr15:72555837 [GRCh38] Chr15:72848178 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.64_87del (p.Ser22_Asp29del)	deletion	not provided [RCV003728322]	Chr15:72474694..72474717 [GRCh38] Chr15:72767035..72767058 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.328C>G (p.Leu110Val)	single nucleotide variant	not provided [RCV003678164]	Chr15:72474967 [GRCh38] Chr15:72767308 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.571T>G (p.Leu191Val)	single nucleotide variant	not provided [RCV003705283]\|not specified [RCV004371914]	Chr15:72544947 [GRCh38] Chr15:72837288 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.190G>A (p.Gly64Arg)	single nucleotide variant	not provided [RCV003681605]	Chr15:72474829 [GRCh38] Chr15:72767170 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.255C>T (p.Gly85=)	single nucleotide variant	ARIH1-related disorder [RCV003917090]\|not provided [RCV005101720]	Chr15:72474894 [GRCh38] Chr15:72767235 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.265G>A (p.Gly89Ser)	single nucleotide variant	not specified [RCV004665516]	Chr15:72474904 [GRCh38] Chr15:72767245 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.1245G>A (p.Leu415=)	single nucleotide variant	not provided [RCV005066045]	Chr15:72580760 [GRCh38] Chr15:72873101 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.912-16_912-15del	deletion	not provided [RCV005147275]	Chr15:72566546..72566547 [GRCh38] Chr15:72858887..72858888 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.1418T>C (p.Met473Thr)	single nucleotide variant	not provided [RCV005196969]	Chr15:72580933 [GRCh38] Chr15:72873274 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.237CGG[1] (p.Gly85_Gly90del)	microsatellite	not provided [RCV005088645]	Chr15:72474874..72474891 [GRCh38] Chr15:72767215..72767232 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.262G>A (p.Gly88Ser)	single nucleotide variant	not provided [RCV005064043]	Chr15:72474901 [GRCh38] Chr15:72767242 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.737+19T>C	single nucleotide variant	not provided [RCV005063848]	Chr15:72555926 [GRCh38] Chr15:72848267 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.537A>G (p.Ser179=)	single nucleotide variant	not provided [RCV005062839]	Chr15:72544913 [GRCh38] Chr15:72837254 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.1589+17C>T	single nucleotide variant	not provided [RCV005087965]	Chr15:72582204 [GRCh38] Chr15:72874545 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.375+12C>A	single nucleotide variant	not provided [RCV005172629]	Chr15:72475026 [GRCh38] Chr15:72767367 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.457A>C (p.Asn153His)	single nucleotide variant	not provided [RCV005084748]	Chr15:72544833 [GRCh38] Chr15:72837174 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.1026+3T>A	single nucleotide variant	not provided [RCV005060258]	Chr15:72567180 [GRCh38] Chr15:72859521 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.588+18T>G	single nucleotide variant	not provided [RCV005088661]	Chr15:72544982 [GRCh38] Chr15:72837323 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.133G>A (p.Val45Met)	single nucleotide variant	not provided [RCV005072399]	Chr15:72474772 [GRCh38] Chr15:72767113 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.257_258insCGGTGGTGGTGG (p.Gly90_Pro91insGlyGlyGlyGly)	insertion	not provided [RCV005073665]	Chr15:72474894..72474895 [GRCh38] Chr15:72767235..72767236 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.1177A>G (p.Asn393Asp)	single nucleotide variant	not provided [RCV005197877]	Chr15:72572127 [GRCh38] Chr15:72864468 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.588+11G>T	single nucleotide variant	not provided [RCV005072019]	Chr15:72544975 [GRCh38] Chr15:72837316 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.255_263dup (p.Gly90_Pro91insGlyGlyGly)	duplication	not provided [RCV005154768]	Chr15:72474891..72474892 [GRCh38] Chr15:72767232..72767233 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.20A>G (p.Tyr7Cys)	single nucleotide variant	not provided [RCV005076138]	Chr15:72474659 [GRCh38] Chr15:72767000 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.298C>T (p.Arg100Cys)	single nucleotide variant	not provided [RCV005157391]	Chr15:72474937 [GRCh38] Chr15:72767278 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.286G>C (p.Glu96Gln)	single nucleotide variant	not provided [RCV005160512]	Chr15:72474925 [GRCh38] Chr15:72767266 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.1448A>G (p.Lys483Arg)	single nucleotide variant	not provided [RCV005068450]	Chr15:72580963 [GRCh38] Chr15:72873304 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.373C>G (p.Gln125Glu)	single nucleotide variant	not provided [RCV005081831]	Chr15:72475012 [GRCh38] Chr15:72767353 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.282G>A (p.Glu94=)	single nucleotide variant	not provided [RCV005081856]	Chr15:72474921 [GRCh38] Chr15:72767262 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.1512G>A (p.Val504=)	single nucleotide variant	not provided [RCV005076139]	Chr15:72582110 [GRCh38] Chr15:72874451 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.684T>C (p.Thr228=)	single nucleotide variant	not provided [RCV005144714]	Chr15:72555854 [GRCh38] Chr15:72848195 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.34G>C (p.Asp12His)	single nucleotide variant	not provided [RCV005109392]	Chr15:72474673 [GRCh38] Chr15:72767014 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.804+16T>A	single nucleotide variant	not provided [RCV005117089]	Chr15:72561565 [GRCh38] Chr15:72853906 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.214_243del (p.Ser72_Gly81del)	deletion	not provided [RCV005186262]	Chr15:72474838..72474867 [GRCh38] Chr15:72767179..72767208 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.284A>G (p.Gln95Arg)	single nucleotide variant	not provided [RCV005194529]	Chr15:72474923 [GRCh38] Chr15:72767264 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.843C>T (p.Cys281=)	single nucleotide variant	not provided [RCV005165431]	Chr15:72563432 [GRCh38] Chr15:72855773 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.65G>T (p.Ser22Ile)	single nucleotide variant	not provided [RCV005138791]	Chr15:72474704 [GRCh38] Chr15:72767045 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.585C>T (p.Asn195=)	single nucleotide variant	not provided [RCV005117559]	Chr15:72544961 [GRCh38] Chr15:72837302 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.88G>A (p.Glu30Lys)	single nucleotide variant	not provided [RCV005158435]	Chr15:72474727 [GRCh38] Chr15:72767068 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.955-19C>T	single nucleotide variant	not provided [RCV005084028]	Chr15:72567087 [GRCh38] Chr15:72859428 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.252_260del (p.Gly88_Gly90del)	deletion	not provided [RCV005084188]	Chr15:72474889..72474897 [GRCh38] Chr15:72767230..72767238 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.771G>A (p.Lys257=)	single nucleotide variant	not provided [RCV005165998]	Chr15:72561516 [GRCh38] Chr15:72853857 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.278A>G (p.His93Arg)	single nucleotide variant	not provided [RCV005190910]	Chr15:72474917 [GRCh38] Chr15:72767258 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.417T>A (p.Asn139Lys)	single nucleotide variant	not provided [RCV005124874]	Chr15:72518108 [GRCh38] Chr15:72810449 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.1157+4G>T	single nucleotide variant	not provided [RCV005070483]	Chr15:72570311 [GRCh38] Chr15:72862652 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.1221T>C (p.Ser407=)	single nucleotide variant	not provided [RCV005182550]	Chr15:72580736 [GRCh38] Chr15:72873077 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.147G>T (p.Glu49Asp)	single nucleotide variant	not provided [RCV005073444]	Chr15:72474786 [GRCh38] Chr15:72767127 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.1464C>T (p.Ser488=)	single nucleotide variant	not provided [RCV005180315]	Chr15:72580979 [GRCh38] Chr15:72873320 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.64A>G (p.Ser22Gly)	single nucleotide variant	not provided [RCV005154376]	Chr15:72474703 [GRCh38] Chr15:72767044 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.177C>A (p.Asp59Glu)	single nucleotide variant	not provided [RCV005180491]	Chr15:72474816 [GRCh38] Chr15:72767157 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.225G>A (p.Gly75=)	single nucleotide variant	not provided [RCV005153361]	Chr15:72474864 [GRCh38] Chr15:72767205 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.1157+14A>G	single nucleotide variant	not provided [RCV005068527]	Chr15:72570321 [GRCh38] Chr15:72862662 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.339G>T (p.Met113Ile)	single nucleotide variant	not specified [RCV004858137]	Chr15:72474978 [GRCh38] Chr15:72767319 [GRCh37] Chr15:15q24.1	uncertain significance
NC_000015.10:g.(?_72353681)_(73368280_?)dup	duplication	Brugada syndrome 8 [RCV001031726]	Chr15:72646022..73660621 [GRCh37] Chr15:15q23-24.1	uncertain significance
GRCh37/hg19 15q23-24.1(chr15:70268937-74098081)x1	copy number loss	not provided [RCV001259707]	Chr15:70268937..74098081 [GRCh37] Chr15:15q23-24.1	likely pathogenic
NM_005744.5(ARIH1):c.1302A>G (p.Leu434=)	single nucleotide variant	ARIH1-related disorder [RCV003923474]\|not provided [RCV002165375]	Chr15:72580817 [GRCh38] Chr15:72873158 [GRCh37] Chr15:15q24.1	benign\|likely benign
NM_005744.5(ARIH1):c.912-19T>A	single nucleotide variant	not provided [RCV002204215]	Chr15:72566544 [GRCh38] Chr15:72858885 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.258T>G (p.Gly86=)	single nucleotide variant	not provided [RCV002202171]	Chr15:72474897 [GRCh38] Chr15:72767238 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.69C>T (p.Gly23=)	single nucleotide variant	not provided [RCV002616009]	Chr15:72474708 [GRCh38] Chr15:72767049 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.805-15T>C	single nucleotide variant	not provided [RCV003016933]	Chr15:72563379 [GRCh38] Chr15:72855720 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.886C>T (p.Arg296Cys)	single nucleotide variant	not provided [RCV002602179]\|not specified [RCV004065713]	Chr15:72563475 [GRCh38] Chr15:72855816 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.1215+19G>A	single nucleotide variant	not provided [RCV002975822]	Chr15:72572184 [GRCh38] Chr15:72864525 [GRCh37] Chr15:15q24.1	likely benign
NM_005744.5(ARIH1):c.416A>G (p.Asn139Ser)	single nucleotide variant	not provided [RCV002621398]	Chr15:72518107 [GRCh38] Chr15:72810448 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.237CGG[6] (p.Gly90del)	microsatellite	not provided [RCV002890829]	Chr15:72474874..72474876 [GRCh38] Chr15:72767215..72767217 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.258TGG[5] (p.Gly90_Pro91insGlyGly)	microsatellite	not provided [RCV002666672]	Chr15:72474894..72474895 [GRCh38] Chr15:72767235..72767236 [GRCh37] Chr15:15q24.1	uncertain significance
NM_005744.5(ARIH1):c.217G>C (p.Ala73Pro)	single nucleotide variant	not specified [RCV004180007]	Chr15:72474856 [GRCh38] Chr15:72767197 [GRCh37] Chr15:15q24.1	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	2753
Count of miRNA genes:	1158
Interacting mature miRNAs:	1463
Transcripts:	ENST00000379887, ENST00000561770, ENST00000561987, ENST00000562891, ENST00000563310, ENST00000564062, ENST00000565950, ENST00000566063, ENST00000567762, ENST00000570085
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
406886219	GWAS535195_H	posterior cortical atrophy, Alzheimer disease QTL GWAS535195 (human)		0.000006	posterior cortical atrophy, Alzheimer disease		15	72519061	72519062	Human
597152104	GWAS1248178_H	language measurement QTL GWAS1248178 (human)		0.0000006	language measurement		15	72510115	72510116	Human

A004P07

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	15	72,877,575 - 72,877,840	UniSTS	GRCh37
Build 36	15	70,664,629 - 70,664,894	RGD	NCBI36
Celera	15	49,762,293 - 49,762,558	RGD
Cytogenetic Map	15	q24	UniSTS
Cytogenetic Map	15	q24.1	UniSTS
HuRef	15	49,708,233 - 49,708,498	UniSTS
GeneMap99-GB4 RH Map	15	256.87	UniSTS
NCBI RH Map	15	486.2	UniSTS

RH93460

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	15	72,797,854 - 72,798,029	UniSTS	GRCh37
Build 36	15	70,584,908 - 70,585,083	RGD	NCBI36
Celera	15	49,683,978 - 49,684,153	RGD
Cytogenetic Map	15	q24	UniSTS
HuRef	15	49,628,498 - 49,628,673	UniSTS
GeneMap99-GB4 RH Map	15	252.15	UniSTS

D2S1933E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	15	72,876,981 - 72,877,083	UniSTS	GRCh37
Build 36	15	70,664,035 - 70,664,137	RGD	NCBI36
Celera	15	49,761,699 - 49,761,801	RGD
Cytogenetic Map	15	q24	UniSTS
HuRef	15	49,707,639 - 49,707,741	UniSTS

ARIH1_702

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	15	72,877,238 - 72,877,989	UniSTS	GRCh37
Build 36	15	70,664,292 - 70,665,043	RGD	NCBI36
Celera	15	49,761,956 - 49,762,707	RGD
HuRef	15	49,707,896 - 49,708,647	UniSTS

RH47216

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	15	72,878,548 - 72,878,695	UniSTS	GRCh37
Build 36	15	70,665,602 - 70,665,749	RGD	NCBI36
Celera	15	49,763,266 - 49,763,413	RGD
Cytogenetic Map	15	q24	UniSTS
Cytogenetic Map	15	q24.1	UniSTS
HuRef	15	49,709,206 - 49,709,353	UniSTS
GeneMap99-GB4 RH Map	15	253.26	UniSTS
NCBI RH Map	15	436.8	UniSTS

SHGC-36787

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	15	72,877,748 - 72,877,851	UniSTS	GRCh37
Build 36	15	70,664,802 - 70,664,905	RGD	NCBI36
Celera	15	49,762,466 - 49,762,569	RGD
Cytogenetic Map	15	q24	UniSTS
Cytogenetic Map	15	q24.1	UniSTS
HuRef	15	49,708,406 - 49,708,509	UniSTS
Stanford-G3 RH Map	15	2515.0	UniSTS
GeneMap99-G3 RH Map	15	2510.0	UniSTS

RH77925

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	15	72,823,976 - 72,824,055	UniSTS	GRCh37
Build 36	15	70,611,030 - 70,611,109	RGD	NCBI36
Celera	15	49,708,682 - 49,708,761	RGD
Cytogenetic Map	15	q24	UniSTS
HuRef	15	49,654,608 - 49,654,687	UniSTS
GeneMap99-GB4 RH Map	15	253.26	UniSTS
NCBI RH Map	15	436.8	UniSTS

SHGC-34211

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	15	72,878,547 - 72,878,696	UniSTS	GRCh37
Build 36	15	70,665,601 - 70,665,750	RGD	NCBI36
Celera	15	49,763,265 - 49,763,414	RGD
Cytogenetic Map	15	q24	UniSTS
Cytogenetic Map	15	q24.1	UniSTS
HuRef	15	49,709,205 - 49,709,354	UniSTS
TNG Radiation Hybrid Map	15	27913.0	UniSTS
GeneMap99-GB4 RH Map	15	255.26	UniSTS
Whitehead-RH Map	15	247.2	UniSTS
NCBI RH Map	15	440.4	UniSTS
GeneMap99-G3 RH Map	15	2510.0	UniSTS

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

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4974	1726	2351	6	624	1951	465	2270	7306	6472	53	3734	1	852	1744	1617	175	1


RefSeq Transcripts	NM_005744	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB014774	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB209432	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC079322	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC100827	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF072832	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ009771	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ130976	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ243190	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK000336	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK312715	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL117650	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC051877	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX641117	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471082	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068263	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CQ834334	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000379887 ⟹ ENSP00000369217

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	72,474,330 - 72,602,987 (+)	Ensembl

Ensembl Acc Id:

ENST00000561770 ⟹ ENSP00000457767

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	72,572,126 - 72,582,133 (+)	Ensembl

Ensembl Acc Id:

ENST00000561987

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	72,561,452 - 72,582,118 (+)	Ensembl

Ensembl Acc Id:

ENST00000562891 ⟹ ENSP00000477687

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	72,580,731 - 72,583,551 (+)	Ensembl

Ensembl Acc Id:

ENST00000563310

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	72,581,472 - 72,586,559 (+)	Ensembl

Ensembl Acc Id:

ENST00000564062 ⟹ ENSP00000454774

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	72,474,645 - 72,563,500 (+)	Ensembl

Ensembl Acc Id:

ENST00000565950

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	72,566,370 - 72,580,779 (+)	Ensembl

Ensembl Acc Id:

ENST00000566063

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	72,580,558 - 72,583,290 (+)	Ensembl

Ensembl Acc Id:

ENST00000567762

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	72,474,936 - 72,544,923 (+)	Ensembl

Ensembl Acc Id:

ENST00000570085 ⟹ ENSP00000456746

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	72,474,490 - 72,561,547 (+)	Ensembl

RefSeq Acc Id:

NM_005744 ⟹ NP_005735

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	72,474,330 - 72,602,987 (+)	NCBI
GRCh37	15	72,766,667 - 72,878,904 (+)	NCBI
Build 36	15	70,553,721 - 70,662,877 (+)	NCBI Archive
Celera	15	49,652,768 - 49,763,614 (+)	RGD
HuRef	15	49,597,019 - 49,709,554 (+)	ENTREZGENE
CHM1_1	15	72,884,658 - 72,996,840 (+)	NCBI
T2T-CHM13v2.0	15	70,291,593 - 70,420,271 (+)	NCBI

Sequence:

show sequence

AGTAGCGATAGCAGCGGCCGTGGAGGTGGCGTTGGGGACTGTTTTCTCTCGGAGGCCGGAGCGGAGCCGCGTCTGACTGAGGCGGGCAGCAAGCGGCCCCCTCGCTCCCTCCCTCCCTCCTCCGCGCC
CTCCCCGCCGCCACCAGCCGTCAAACGCCAACCGCCGCTCCTGGGGAGGAGCCGCGGCTCGCGGGGCCGGAGCCAGGCCTGCGTCCGGACATCAGCCGGAGCCGGAGCGAGAGCCGGGGCCTCGGCGT
CCCCGCCCTCTCCCCGCCTCGGCCAGCGTCCGCCGGGCCCCCGCGCGTCGCGCCATGGACTCGGACGAGGGCTACAACTACGAGTTCGACGAGGACGAGGAGTGCAGTGAGGAGGACAGCGGCGCCGA
GGAGGAGGAGGACGAAGACGACGACGAGCCGGACGATGATACCCTGGATCTGGGCGAGGTGGAGCTGGTGGAGCCCGGGCTGGGCGTCGGCGGGGAGCGGGACGGACTGCTGTGCGGGGAGACGGGCG
GTGGCGGCGGCAGCGCTCTGGGGCCCGGCGGTGGCGGCGGCGGCGGCGGCGGCGGTGGTGGTGGCGGGCCGGGGCATGAGCAGGAGGAGGATTACCGCTACGAGGTGCTCACGGCCGAGCAGATTCTA
CAACACATGGTGGAATGTATCCGGGAGGTCAACGAGGTCATCCAGAATCCAGCAACTATCACAAGAATACTCCTTAGCCACTTCAATTGGGATAAAGAGAAGCTAATGGAAAGGTACTTTGATGGAAA
CCTGGAGAAGCTCTTTGCTGAGTGTCATGTAATTAATCCAAGTAAAAAGTCTCGAACACGCCAGATGAATACAAGGTCATCAGCACAGGATATGCCTTGTCAGATCTGCTACTTGAACTACCCTAACT
CGTATTTCACTGGCCTTGAATGTGGACATAAGTTTTGTATGCAGTGCTGGAGTGAATATTTAACTACCAAAATAATGGAAGAAGGCATGGGTCAGACTATTTCGTGTCCTGCTCATGGTTGTGATATC
TTAGTGGATGACAACACAGTTATGCGCCTGATCACAGATTCAAAAGTTAAATTAAAGTATCAGCATTTAATAACAAATAGCTTTGTAGAGTGCAATCGACTGTTAAAGTGGTGTCCTGCCCCAGATTG
CCACCATGTTGTTAAAGTCCAATATCCTGATGCTAAACCTGTTCGCTGCAAATGTGGGCGCCAATTTTGCTTTAACTGTGGAGAAAATTGGCATGATCCTGTTAAATGTAAGTGGTTAAAGAAATGGA
TTAAAAAGTGTGATGATGACAGTGAAACCTCCAATTGGATTGCAGCCAACACAAAGGAATGTCCCAAATGCCATGTCACAATTGAGAAGGATGGTGGTTGTAATCACATGGTCTGTCGTAACCAGAAT
TGTAAAGCAGAGTTTTGCTGGGTGTGTCTTGGCCCATGGGAACCACATGGATCTGCCTGGTACAACTGTAACCGCTATAATGAGGATGATGCAAAGGCAGCAAGAGATGCACAGGAGCGATCTAGGGC
AGCCCTGCAGAGGTACCTGTTCTACTGTAATCGCTATATGAACCACATGCAGAGCCTGCGCTTTGAGCACAAACTATATGCTCAGGTGAAACAGAAAATGGAGGAGATGCAGCAGCACAACATGTCCT
GGATTGAGGTGCAGTTCCTGAAGAAGGCAGTTGATGTCCTCTGCCAGTGTCGTGCCACACTCATGTACACTTATGTCTTCGCTTTCTACCTCAAAAAGAATAACCAGTCCATTATCTTTGAGAATAAC
CAAGCAGATCTAGAGAATGCCACAGAGGTGCTCTCGGGCTACCTTGAACGAGATATTTCCCAAGATTCTCTGCAGGATATAAAGCAGAAAGTACAAGACAAGTACAGATACTGTGAGAGTCGACGAAG
GGTTTTGTTACAGCATGTGCATGAAGGCTATGAAAAAGATCTGTGGGAGTACATTGAGGACTGAGAATGGCCCTGCATAAAATGAACTCTGAAAACTTTACCATCTAGAGTGCTCATGCAATTAAAAC
AAAACAAACACAAACAAGGAGGCACTAAGCCTATTCTGACACCACTGGTCTGTAGTACCAGAATTGTTTTGTTAATGGAAAGTTTAAGTAAATTATATTGTAATAAAAAGGTAGATAAACCATTGTAC
AACAGTATTCTAGGCCACCAACAAAAGTGTGACAGACACACTAAAAGCCCTCCAACTTTAACTTGTAACGTAGCTTCATTCTCAAAGCTGACTCCTTTTTTTTCTTTTTCCTTTTCCTGAGTGTAGTA
CAGTTAAAATTTCAAACAGCTCCTTGACACTGCTTTTCATGTTCAAACCAGCCATTTTGTTGTACTTTGGTAAAGGACCTCTTCCCCTTCCTCCCCTACACATACAGATACACCCACACACAGACTGA
CTCTCTTTCTCTCATACCCCAAGGTCATGAGTGAATGATGCTTAGTTCCTTGTAAAGAAAATCTTGGGATGGGGAAAGGGGTAGGCAGCAAGAGGATTCAACAAACGAAAAACATAAAAACTTTGTAT
ATGACTTTTAAAACAAGAGGACAACACAGTATTTTTCAAAATTGTATATAGCGCATATGCATGGACAAAGCAAGCGTGGCACGTGTTTGCATAATGTTTAATTACAAAAAAATATTTATTCTTTAAAA
ATCTTCAAGATTATGTCTATTTGCTGTGCATTTTCTTTCAGTTTGCTTATCTTTCCCGGGTTGGGGTTGGGATAAAGGTGTGTCGGTTTAGCACCTCTGGAAGACCTATCTAGAGCTCTTTCACTTTC
CTGAGGTTATTTTGCCCTTTCTGGTGTTGGTATGTCTGTTGCCGGCCATGGGCCTCATGCCTTGAATTCCTGCTCTTGATCAGGGACAAGGGAGGTCAAGCTCTGACTAATGCCATGACCTGATTAAG
GGGTACAGCAGGGAGTTTTGTTGCTACAGCTCATGAATTAACCTGTCCCAACCTAATCCCCCTCCATGGCATCATGCCTCTACCCAAGCCTTTGTGTGCCCATGTTATGCACACAGCTGTAGGCATTC
TTAAGTCCCCTGTCGCATCCAGTGGAAGCATTTTAAAATTTCTTTTACTTTTTGGTTTTCCCTTAATTGCTGCTTTTCAGATTTTAGTTATGGCTCGTCTGCTCACCCCTTCTCTACATTAGGGTGTC
AAAGAGAATGTTTTGCTTTAAATATAAATAGCCATTCATTTAGTCTCAGATTGTGAATTTAAAATGGTGGATACCGAAATTGCTTGTGTGTGTTGCTGTGGGTTTGGTTTGAAGGCAAACACCCCTAG
AACATGATATTCCCATCTAGTGCATTTAAATAGAAATCACTGAGTTTGCTGCTTTTTTATTGTCAGCAGATAGGAGAATTAATAATGCATTTTAGCTGTGATGTCCATTTTTATGAAATTCCTACTAA
GAGCTATGTTAAAAGTAAAGGATGGTGGTGGTTGTATTAACTATATACCTGTTTAGGCCATTCTGGCTGTGGTATTTTTCAATAGGTCAGCATCTGTAAATCTGTCAGTTTTATACAGGAGTGCAGAG
TGAACTAGGCAACTAGATTAAGAGGTCTAAATATGAAATACCAGTTGAGGCTGAGGACCTCTTCGTCTTCCTTTAAATGTCTTTTGCCTAGGGAGTGTTTACCATTTGTGAGGCAGCTTTGTCTGCTC
TTACACTGTACATCCTATTACTCCATTGGGAAGTAGGTTCACTTTCCTCTGGCCTTTTGCCTAAGTTAGGCTTTGCTGAATCAACCCTACTTTTCCTTTTAGAAAAGGTTGTTACAGGAGATTTACTG
GCAACTGTTCTTTTCCCATCAAAAATCAGTGAATGTTTGCTGAGTATAAATGCTGCTTCCTTAAACCACTTGTCGCTTTAGGATCAACTTTACCTGTACCTTTTCTCCTTTCCTCCCTTGCCACCTCA
GGTGCAAATCTGAACTCAGTGTCTGCTTCTTCCATTTTCTCGTCTCTCTCCCCTCTTCCCCCATTATCCATATGACATTATTTTACTTCAAATGACAGCATCAATCTTAAAAAGATATACATTAAAAC
TAAGGAGTTTTTTTAAAGAAAGCCTGAATAAGTTCCTTTCCCTGGTAACTTTGAAAAGCAGTCAGAGTTGCTATATAGATATATGTGGCTCCTTTAAAATGCTTTGTGTATGTGTGGTGTTTAAAAAA
AAAAAATCTTACCAGTTAACTTTGCAGTGTCTAGGTTTGAGTGTCATAAATCCACGTGTTCCTGTTGCAACAAATACCCAAAAATTGTGTGTGCACTTCCTAATACCAGTCTTCACCCATGGAGGAAC
AGTGCTTTTTAGAGATGCTTTCTATTTCAATGTTGGCATACTGCCTGAGGGTATTGCAGTTGTGGGTGCATTCCCTAATTTGTATGATCAAGATGAACTGGCCCTTTTCTACTTCCAAGCTTTTAACA
GATACCACCATATTTGACAGAATTCCCAGAGTGAATTGCTTGTGTTATTAGTAGATTCAGTGCCCCCAGCTGGGATAGGCAAGCCATGACAGCTTCCCTGTTTCACCTACAGAAGTCTTATCTGAGGG
ATCTATTCACAGTAAGCACCAAGGTCTCCATGTCTTGAGGTCAGTTTCATTGTCTTTTGAAAAGTGCATGCTTCATTTGAACAATTCATTCAGCAGCAGATGGACTTTCAGTGATTTAAAATAAAATT
TTGATCCAAAGCTCAGGACACAAACCACAGTGGTAAAATTGAGTAGCATATAATATCAGACTAAATTATCTGTAATTTTCCACAACCCAGATTGTATGTGTTTTATGTGTGTTTAAATAAATATGTTA
GATACACGTGTATACATACACCCATATACAACAGATCCAAGACTGGCTGACTTCATTTGAAATGGTTGAATCTGCTGTGTAATAAAGTGGTTCAACCATGATTAGGAACTGAAATTTAGTAGAAGAGG
GAAAAGGAGTTAATGTAACAAATTATTTTAGCTACAAACCCCGGTAATAGAGCACTTGGGGGATGGGATGGGGTGGGTTGGTGAGACAATCAGAATGGTAAATTGATTAAATGCTCCTAACCCTGTAA
TTTTGTGCATAGAGCACCCTATGCTGTGGAAATAACTGTTCTTAGATTTCATTGTAACTGGACTGTTCAGGTTGCCCAGAGGGAAAGAACATTCCTAATTCTAATAAAATAAACTTTTATTTTGTTAT
TCCATTAGTTACTTATGTTTATTTTTATAGTTAAAAAATGACTAAAGGTGGCTAATAGCCACCCGTATTATGTGCCTTATTCACTGTTCCCACTTAATATAAAATGTCAAAAATTGGTTGTTTCTTTG
CAGGGAACTGTGAATGAGCCCATTCCCCCAACATTTAACTTGGTTAATGAAGCTTTCAGAGCATTTTCTGAAAGATTTCCAATTTCTGCATCTCAGATATTGAATTTAAATTGTTTGTGTTGTAACAG
TGATACAAAAATGTTCAATAGCTCTTTGAATGCCACTTTTTTTAAAGAAAATACTTTAAAAGTCATTCTTAGCTAACCTCAAAACTCCTTTACATTACTTTCATTTTAGCTCACTCTTAAAGCTGATA
CTGTTATATAGGGATGAAGGGAGAGTTTTCTTAAAGAAGGTCCCAAAGTTGAAGATCGTTTGTCATTGATACTCTGGCCAAGTCCAGGTTTTAGGACAATTTAATTTACTCTTATTTGGATCTGTAAT
TATGGGAGTTTATCACTTTTCCTCTTCAAAGCACTTCAACTTACTGTCTAAAACAAGTGGAGAAGAAATTGCCATTTTTTATAAAGGAGGAAGATAAGGCTCACTGAGGTTAAATAACTCCCTCAATT
TTTCATTTCCTTCTACCTGAAACTTAACATCATGCTACCTCTTTGTATCATATTTTGTTATTCTGGTCACAGAATGACCTAGTATTCTGTACCAGGGAAGGTAGTTCTTAACTATATTGTACTTTTAA
ACCACATTAAAGACTATTATAAATGCCTATCACTGCTACTGTTAGAGGTTGCTCTATACTATCTCTGATCTTTCATTTGTTGCAGTTTGCAACACAGTAGTTGAGAATAAGTGGTTTAGTATGATTTG
CTTAATAGTACCCAAGTAATTTGCAGTTGTTGGTTTAGTTATTCAAATGAATTTCCATTGTAAAGAATTTTGGATAGTCTGCAGGAAATTGTTACAGGATGCACAGAACATCCCATATCCATTGGATC
TCAGCCTTTGAGGCTTTAAAAAGATGATAAGCAGTGAGTTTTATGAGAAAATTTTGGCTCCTTCAGAAACAGGAAGATAAGTGGGCCCCTCAGATTTTTCATATATCTTTGGGGATAAAGTTGGTTAT
ATCTGGTTTATTTTAGGGATTTTGCTTCTGTAGTTACCCAAGATCAAATAGCCAACTCAGAAATACTCAGTTGGATATCAATCAAATAGTGCCTACCAGGGGAGTAAACAGACAACTTTTAGGTTTTT
AGTTTTTGCTTTTGTGTGGAGTTGAGTCCAATTTTTAAGGCAACTATTGTTGACCTTTCTCTAGGCGGTAGCATTTAGGATGGGAAAAAATAATATGAGTTATGTGCGAAAAGCAGTTTTCAGGCTAT
CATTTAGGGCCACAGATATGCTTATTTAGGACTATTTTCAGGGTAGGAGCCAGTTAAAGTTTGTATATCAGTCACACATTGATATGTAGCAGCTCTATCAATACCACAACAACCTTATTACCATAGTA
ATTCAGGGGTCTCAAGTAATCCAGGAGTCTCAAACTGAAATGTCAACAAGAGCCAAGTAAATATTTTAGAAATAGAGTACCCTGGAGTAGATGGGCTCTGAGAGGAGCCTGTGAAATCCAGACTTCAT
GTGAATTCTCTTAATTAAATGTGGGCCAAAGAAAACCCGGCCATGGGCAGTTTTTTTTTCCCAGCTTCTACTAGTCTTGGCTTGCAACAATGCCACTGTCCATCTGGCATTACCTAGACCAGTGATAC
TTAAACTTGACTGCGAATTGGAATCACTGAGAAGCTTTAAAAAATATTAGTGCCTGAGTGTTACTTTATGGAGATTATGATTTAATTGCTTTGGGTAGGCATCAGTAATTTTTGTAAAGCCCTTTACG
CATTCTCACCCCTAATTCCAGCCGGTGATTCTCACATGCAGACTAGGTTGAGATCCTTGATCTAGACTGCCTTCTATAGTTGCAAAAAGAGAATATAGGCGAGCAACTCCAGATCATAAGGGACAAAA
TGATTCAAGGCAAATTGACTGGCTCAGAATAGGGCCTCACTGGAGGCCCTAGTTGAGTGGGTTTTGTGGAATGGTGCCTCCCAAGGGTCTGGTGTGCAGTGCCCAATTTGGTTTTTTGTTGGTTTTCT
GGTAAGTGGTCCACCTTGGAGAAAATCACAAAACTAAAAGTCTTACCAAGAAGTAGAACTGACAAGCAGCCATGTTGATTGGCAGTACATTCTCTTACCAAGGGGGAGAAATCTATCTAGGGAAAATA
ATACAGAGTCTGAGCAAAGGAAGTTGAGTGGTTATAAGCAAAACTGTCATTAAAGCTAGTTGCGTCAAGTCTGCACAATTCCACGAGCACTTAAGAGTTTACAAGTTTCTCATGTCTATCATTCTTTT
GATAATCTTGTATTTTTATTTCAAGTGTGGTATAGTAGTAAGAATATTGGTATTTCTCAGCCATAGATTTCCCTTTTGTAAAATGGGAATACTAATAGGAACTGTAATTTGTTGAGTGCTTTTTGCCA
GATGCCTTACTTTTGTCTGTATCTTCCAAGCAGCCCTAAAGCAAAATGGGCATTGTTACCCTATTTTTATGAGGAAAGACACTCATATACTACTAACTTACTCAAAAGTTACACATTGAGTGTATAAC
AGGGCCATGCTTGTCTGATTCCATATGTTCATTCTATTATGCTGCTGTTGTCTGTTACATAGGAATATTGTGAGGATCAAAGAACATGTGAAAACAAAACCTAGTTACAATAATAAGCACACCAGTGC
TAACTTGGGCAAAAGATAAGGATACAGAGCTGTCTCAGAGACTCCCAAAGGCAGGATGAGATTGGGAACTAGAAAACCATTTTGGACCCCTAAAGTGGTATTGTCTACTATCTGTACATCATTCTCTT
ACAGCTCTTACTGCTGCTTTTCCTGTCAGTTACCCCATAGCTCCAGGTATTACATGTTAACTGTTCCTGACACATGTAGACAGAACCAATCAGATCCATGGGGCAGGATCATCAATACAAACATGGGT
GTTGAGAGCTTAACTTAATCGGGAAGGAGATCTTGGAGATCATAGTTCGCTGGGTTCACATCATGGAAATCGTCTTTGACAAAACTGAAATGCCCTGAAGTTTTAATTTTTTAAATACATGTAATGAA
TTGGTATATGGTAGATACTCGTGGCTACTTAGTATTTACCAAATGCTTTGTTTCCATCTCGTTTATTTTTATTTTTTATTTTTTTAAGAGACAGTCTTGCTATGTTGCCCAGGCTGGACTTGAACTCC
TAGTCTCAGCCAACCCCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATCATAGGCATGTGCCACTGCTCCTAGCTCTTCCATCTCAGTCTTATGATGTAGTTACTATTTTCATTTTATAAATAAGAAAA
TAGAAGCTCAAATAAAATGGGTAGTTTCCTTGAGGTCATCCTGTTAGTAAGTGGTGGAATGAAGTTACAAACCTAGGTTTTATTGGTCAGCACACACAGTGCCGGGCACTGGCAGTACAGCAGTGAAC
AAAAGGTCTGTTGGTTTGTCTGAAGCTCTCAACCTTGATTCTGCATAGACTCGGTGGATTGCCCAAGGCCACTCAACCAGTTAATATCAGAGCCAGCTCTGCTGTTTGACCAGTATATTATTTTCACC
ATGCTGTATCTGCTTCTCAGTCACCAAAAGCACCAGCTAAAATTGTATATAGACTGATTAGGGGACTTCCAACCTAAGATTGTCCTGGAAACTTAATTCTTATCTTGGCTCATCTCTTCAAAACAGAT
GCCTCTTTCGTTGGTGACCTCAGATACACTGTTCAGAAGTACTCAAAGTATTCCTTTTTTCTCACATTTGAGAGTCACTCTAGCATTTTAATGAGTTAAGCAAGCCAGCCCTGCATTTCCAAACCCTT
CCCAGAAGTCTAACCTTACTTTGATCTGATGACATGGGCTTTTTAAAAGATTACTATTTTTTTAGAGGTGGGGTCTCACTATGTTGCCCAGGCTGGAATATAATGGCTATTCACAGGCACAGTTAGGG
TGCACTACTGCCGTGAACTCCAGGACTCAAGCCATCTTCCTGCCACAGCCTCCTGAGTAACCTAGGACTATAGGTGCATGCCACCATGCCCAGCTGACAATGGCTTTATATACATAATATTTCCTCAG
CAACAATTTATGTCTTATTTGGCACCTGTAAAACCCTCTTCACTGATTATGCCTGTTTAAAGGTTTGGTATTTACTCCAAGTCACCTGCCTTTAGCCATGGAGTATTCAAGTTTCTTTCAGAATGAGA
ATTTGGAGGGTGCTCATAGAAATATAAAACAAGGCTGGGCATGGCGGCTTACACCTTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGTGGATCACGAGGTCGGGAGTTCGAGACCAGCCTGGCCAA
CACAGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTGCTCGGAAGGCTGAGGCAGGAGAATCGCTTGAACGCGGGAGGTGGAGTTTGCAG
TGAGCCAGGATCACACCACTGCACTCCAGCCTGGGCGACAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAATACAAAACCAACTCTTTATAGTAGACAGTTTAT
CCCCCAGAAAGCTTTTTAGGCTGAAAACGTTTCTATAGATTTTGGATTTCCTTCTGATAGCTAAAATTTGTTTCTGTATAACAGAGTAGTGCCCTATAAGCCAGTTCAGTGCACATTAAATGGCTGTT
CTTAGAATTATGAATCTGAGGCTTATGCAGTGAGGCTCTAGCTCTCTGGAGTCAGTTGGTCAAGTGGGATTCCTGAGGACTGAGCAAACACACACAGAGCAGGATTTTGTCCTAAGTTTTCTTAGGGA
TCCTATCCAAAAACACCATTACTTGAATTTCCCAGCTTCCTTTTACAGGGAGACTTCCTTGCTATGTGTACTCCCACCTCGGTATGTCAAATCATTTTCTCAGAGGAAGTACAGCATAAAATAATAAC
CAGCATTTGTAGAGCACTTCTTGTGGGCCTTCTTGGGCAAATAGACATTCTCATGGAATGCTCTAAAATTGTTAAGTTCTTGCACTTGCTCTCAAGTCATTTATAATCTAATTGCTGGTCTTCCTGGT
ATGAACAAAGATGTTTGCTTGTTAATAAATTCCTACCACATACCCAGACTTGTGGTTTATTTCTATCTAACTAGGGAAAGCACTAAAGAGTTTTCCAATAAGGAAGAATGATCTGAGTGTCTACCTGC
TTTGGAAAAGATGTCTGCCATGGATAGGAAATGATTTTGTATCCCAAAATCCTAGTACTAATTTGGAGTGTTGTAAAGGTCAGGGCAGCAAATGCTAGAGAGTGGGATTAATGAAAAGTTATAGTGTT
CTGCATGCCTTTGAATAATTAATTTTTACTCCATTTTTACTCGCTTGCAATAAAGTAGGTTAAGTGCTGTACTTTAAGGAAGTCCATGTACAAGCCAGTGCCTTAACAATGGTCAAATGGTTGCTCAC
TAACCAATGGAAATAAATGACTGTTGTTTCCACAAAATTGCTTTACAGATTCTAAATGCTATCTCTGGGACACTGGATTGTGTGCTCTTTAAGATAAATTCCATAATCAAGGGCCTGGCCCTGAATAG
ATTGGAGCCCAAAAATCTCACTGAAGCAAAGAGATAATAGGCCAGTAAAGAGTGGGAGACAAACACTCCTGGAATAGGAAGCCACTACTCACCTTTATTTTAAATTGATATATAGAAATTAATATTAC
AAAATGCACACATCTTAAGTGTGAAGTTTGATGTTTTGACAGTTGTATACGTCTGTGTAATAACTACCAAAAGAAGACATAATATGTTACAATTAACCCAGAAAATTCTCAAGTACTTTTAAATCACC
CCTGAGCACCTCCCCACTCCAGTGATCACTTCTTGATTTTTATCACTAAAGATTTGTTGTACCTGCTTTTGGATTACATATAAGTGGAATCATATAATAATGTACTCTTTTGCATCTGGCTTCTTTCA
CTGATAATGCTTTAAAGACACGCATACTGTATGTATTAGGACATTGTTCTTTATTGCTGAGTAGTATTTCATTCTATAAATATACCACAATTTGTTTATTCATTCTCCTATTGAAGGACCTTTAGGTT
GTTTCCAGTTTGGGGCAATTATGAATAAGGATGCTATCGATATTCTTACACAGCCTTTTGTTTTTGTTTTTTGTGGATATACATCTTCACTTGTCTTGGATAAATAAGAGTAGAAAATTACTGGGTCA
TATGGTAAGTGCATGTTTATAAGAAACTGCCCTCTTATTCTCCAAAGTGGTTTTACCATTTTGTACTCCTATCAGTGATGTATGAGAGTTACAGTTGCTTCACATGTCTGTCAACATTTACACTGTCA
CTGTTTTTTATATTAGCCATTTTAGCATATATGAAATAACTGATTTTAATTTACATTACATTTCCCTGATTAATGAGTTGAGCACTTTTTCATATGCTTATTTTTCATTTGTATATCTTTCAAGAAGT
GTCTTTCATGTCTTTTCTCATTTTAAAGTTGGGTGTCTTTTTATTGTAGGTGTTATTCTTTGTATTTTGAATATAAATCCTTTGATAGATATGCTATGATTTTTTAAAGACTCTATGTATTCACTTAT
TGGGATCTTTCGATGAACAAATTTTTTTTATAAAATCCACTTTATCAGTTTTTTATTTTATGGTTTTATGACCTCAAAGTCACAAAGAATATATTTTCTTCTAGAAGTTTTATGGTTTGGGATTTTAT
GTTTAGGTCTGTGATCCATCTCAAATTAATTTTTGTGAACAGAATGAGGTTTGGTTTTTTTCCAACATGGATATACAGTTGTTCCAGCAACATTTACTTAAAAAGACTTTTCTTTACCCATTAGATTG
ACTTGGTAGCTTGGTTAAAAATTGATCACGTGTGTGTGTATTTCTACATTTTCTGTTCTGTTCCATTAATCTATTTGTGTATCCTTACATCAGTACCACACTTTGGATTATTGAAACTTTCTAGTAAG
TCTTTAAATTAGTAAATCCTTCCTTTTTGTTATTTTTCAAGATCGCTTTGGTTATTGTCGATTCTTTGGATTGTCATAAAAGTTTTACAATTAGCTCATCTTGTTTTTCAAACGTAGATGTGCTGGGT
TAGCTGTGTTCATGCCACTGCATTCCAGCTTGGGTGACAGCAAGACCCTGTCAAAAAAAAAAAAGAAAAGAAAAAACTGCTAGAATCTTGATATGGGGTTTTGTTGAGTCTATAGGTCAATTTAGAAT
GAACATTTTAATAGTATTGAGTCAGCTAATTCATGAACATATTAAGTCTTGTCATTTATTTAGGTATTAAATTTTTTTCTCAGCAATGTTTTGTAGCTTCCCTTGCGTAACACTTGCTTATCTTACAT
TAGACTTTTTCTTAAGCATTTGATTTTTAAAATATTTTTGATTTTCTTTTCTTTTTCTTTTTTTCTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGGCTAGGCTGGAGTGCAGTGGCGCGATC
TTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTTTTGAGTAGCTGGGATTATAGGCACACACCATCATGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTT
TCACCATGTTGGTCAGCCTGGTCTCGAGCTCCTGACCTCGTGATCCAACCACCTTGGCCTCCCAAAGTGCTGCCATTACAGGCGTGAGCCACCGCGCCTGGCTAATTTTCATTTTTAAGTTGTTTGCT
GCTAGTATCTAGAAATACAATTGATTTTTTGTTTGTTTCTTTAGAGATGGGTCTCACTATGTTGCCCAGGTTGGTCTTAAACTCCTGAGCTCAAGGGATTCTCATGCCTCAGCCACCCAAGTAGCTGG
GACTTTATTCACGTGCCAGTGTGCCTGGCTGATTTTTGTATGCTGATCTTGAATCGTGCCACCTTGCTAAATTCATTTATTCTAGAAATAGTTCTTGTAGACTCCGTAGAGTTTTATATTAAATAGAT
ACACAACAGTGTAGTCTGCAAATAATGTTTTTACTTCTTTTTCTGATTTTATGCCTTTTCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGTCTTTCTCCACTGGCTACAATATCTAGTGCAATGTTT
AACGTGTGGTGAGAGCAGACACCTTGCCTTGTTTTCTTAATCTTAGGGATAAAGATTTTAATGTTTCATCACTAAGTATAATGTTAACTGTAAGTTTTTCACAGACCAGCCCAAAGAAGTTCCTTTCT
ATTCCTAATTTGTTGATAATTTTTATTAGGAAGGGTTATTAAATTTTGTGAGATGCGTTTTTAGCTTTTAATAAGATTATTATGTATTTCTCTTTTTATTTTGTTAAGATGGTATGTTACAGGGGTTG
GCAAACTGTGGCCCATGGGCCAGATCCAGCCCATGGACAGTTTTGTTGTTGCTGTTTTAGAGACAGTCTCACTCTTTTGCTCAGGCTGCCAGGCTGGAGTGCAATGACATGATCATAGCTCACTGCAG
CCTTGAGCTCCTGGACTCAAGCGACCCTCCTGCCTCAGCCTCCTGAGTAGCTAGGAATACAGGTGCATGTCACCACACCAGGCAAATTTAAGAAATTTTTTGTAGATCTTGCCGTGTTGCCCATGATG
GTCTCAAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCTACAGTGCTGGGATTAGAGGTGTGAGCCACCACACTTGGCTCTCATGGACTGTTTTTGTTTTTGTTTTGAGACAGGGTCTCTGT
CACGCAGGCTGGAGTGTGGTGGCATGAACGTGGCTCACTGCAGCCTCAACTTTCTTGGCTCCAGCAATCATCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGTGTGCGCTACCACAGCTGGCTA
ATTTTTCTTTTTCATTTTTGTAGACATGGAGTCTTGATATGTTGCCCAGATTGATCTGGAACTGCTAGGCTCAAGTGATCTTCCTGCCTTGCACTCCCGAAGTGTTGGCATTACAGGCATGAGACACA
GTGCCCAGCCTATTGCAGTGTTTTTTGTTTTTTCTGTTTTTTTTTTTTTTTTTTCATCTTTGTTTTTGTTTTTTTGAGACTGAGTCTTGCTCTATCTCCCAGGCTGTGGTGCAGTGGTGCAATCTGCA
ACCTCCGCCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAAGTGGGATTATAGGCACATGTCACCAAGCTCAGCTAACTTTTATATTTTTAGTAGAAACGGGGTTTCACCATATTGGC
CAGGCTGGTCTTGAACTCCTGGCCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTCACTAGGCGTAGTAGGGCTACTACGCCTGGCCCTACTGCAGTTTTTAATAAGAGAT
GAGTTCTCTCAGCTTTTGTCTATAAGAGAATGTCCTTACTTTTATTTTTGAGGGGTATTTTAGTTGGATATAGGACTCTATGTTGACCTTTTATTTCTTCTTTCAGTACTTTAAAGAAGTTATTTTAT
TGTACTCAGGCCTCATTTGTTTCTGGTGAGAAGTCATTCATCATTTTAATTTTTATTTCCTTTCCGTAATGTGTGGTTGTTCTCAATGGCTGCATCTGTGCATTATATTTACTTTTCAGTAGATTGAC
TAGGGAATGTCTAGGTATGTTTTTCTTTGTATAGAGTTTACTGAACTTCTTGGATCTGTGTTGATGTCTTTCATTAATATTGGTTCTTTCTTGGCCGTTATCCGTTTACATTTTTCTCTTGTCTCATA
CTCTCTTGCTTCTCCTCTTCTTTGGAGATTCTAGTTACATGTATATTAGATGATTTGATATAAACCTACAGATCTCAGATGATTTTTCCCCTGCCCTGTTTTCTTTTTGTTTTCAGTTTGGATACTTT
CCATTTAACCATCTTTAAGTTTTTTGATGCTTTCCAATGTTAACCTGTTAAACTTGTTTATTGAATTCTCCATTTAAAAATTTTTATTTTTAGTTATTTATGGATACATAGTTGTACTGAATTATTCA
TTTCTAATATTTTTATTTCTAGCATTTCATTATATTTGTATAGTTACAATTTTCTGCTGAAATTTCCTATTTCTTCATGCATGTTTTCCACATTTTCCATTCTACTTTTTAGCATTTTAATCAGTTAT
TTTATTGGGTTTTTTCTGTTTTTTCTTTCATTTTTAATCAGTTATTTTAAGGATCCAAACTGATAATTCAACATCTGGGTCTTTTCTAGTTCTGCTTCTATTGAGCCCTTCCTCTCCCTTACCATGAA
TCTTATTTTCTTGCTTTTGCACGTCTTGTATATTTGATTGGATGATGGACGTTTTATGTTGAAAAAAAAAAGAAATTGAAGAAAATGTTTACTTCCAAAACAGAGCATGCCCTTTGTTTTTTTTTCAG
GCCACTTGAATGGTGGCTCAATCTGATGTATATGAATTCTAGACTGGGGCTTCACTGCAGTTTTAGTTTGATTCAGTTTGCCTCTAGCTTCAAATATTTGAAGGAACGTAGAATCAGAACTCTCATAT
CACCAGGGCCTGAGTTTTGGGCATTGGCAAGATTCCAGAGATCTGACTTTGCTTCATAGCTAAGCCACCAGCTTTTATCAATGTGGGAGATCTTTCCCTACTTTACAACCTTGCTGCCAGGATTTTTT
TTTTTAATCAATGGGCTGGGGATAGGAGGATCTTTCTCAGCTCTCATGTGTGCCCTGCCCTTTTGTAGAGGAATGCCCACAATGCCTAGGGGATGGGTTTCTCAGCATTTCTGACCCCATTTAGGCTC
CAAGAGTGCCTCTGTTGGATTTCACAACAATCCTGCCTCCCCTTTCATTTTTAAAGGGTATTTTGCCCTTGGGAGAAGTCAAGCTCTCTCAGCGTTCCTTCTATTATCCACACCTTTAGTGTACTACA
CCTTCCTGTACCTGGTTATCATCTAAGGGGTAAGATTGGTGGGAAGCCTTCCTCTGTGGATTTGGGTCATCTAGGTTCTAATGTCAAACCAGCCTCCAAGGGGTTGTGAAAATGTTGTTAAATTTCAG
CAGGTTTCTCTTTTCTCCCCCCTGTAGTATTCCTCTTCCTACCATAGTTCAACTAGGAATAACAACAGCTAGGGGGTCTCTTCTCTCCTATGAAGGACTTGGCACTTTCTGGAGTTTGGATCATTTAG
GTTTCTTTGGTTTTTGTTTTTATTTTGAGACAGGGTCTCACTCTTACCCAGCCTGGAGTACAGCCTGTAGTGATCTCAGCTCACTACAACCTCTGCCTTCCTGGCTCAGTTGATCCTCCCACCTCAGC
CTCCTGAGCAGCTGGGACTACAGGCGTGTACCACCACACCCGGCTAATTTTTGTATTTTTTGTTGAGATAGGGTTTTACCATGTTGCCCAGGCTGATCTCAAACTTCTGAGCTCAAGCGATCTGCCTG
CCTCAGCACCCCAAAGTCCTGGGGTTACAGGCATAAACCACTGCACCCAACCTAGATTTCTTTGTGTCCTTAGCTTTCTGATGAATTAAACATATGTTTTATTTTCTAGCTCATCTGGCCTTTTGTTG
TTGTTTGCTAGAGTGGGAGGTATATTCCTTGTGACTTTGTTCATATCACTAGTGAATTTCAGAAGTAGGAGTTTATTTTTTTAATAAAAAATTTTTTTAGGTCAGGCACAGTGTCTCATGCCTGTAAT
CCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGATCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCAACTCTACTAAAAATACTAAAATTAGCCAGGTGTGGTGGTGGGCGC
CTGTAATCCCAGCTACTTGAGAGACTGAGTCAGGAGATTTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCCTCTCAAA
AAAAAAAAAAAAAATTTTTTTTTAAACACGTCTCACTGCCACCCAGGCTTGAGTGCCATGACATGATCATAGCTCACTGCTGGCTTGACCTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCTTGA
GTAGCTGGGACCACAGTCATGTGCCACCATGCCTGGCTTTTTTTTTTTTGTAGAGTTTGGGTCTCGCTATGTTGCCTGTGATCCTCCCACCTTGGTTTTCCAAAGTGCTGGGATTAAAGGCATGAGCC
ACCATGCCTGGTTAGGAATGGGAGTTTAAACAATGGTTTTATTTACATATTTCATTAGCTAGTATTTTTTTCTTTTTTGAGACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCT
AGGCTCATTGCAACCTCTGCCTCGTGATTCTCGTGACTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTG
GCCAGGTTGGTCTCCAACTCCTGACCTCAGTTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCTCCTGGCCTCATTAACTGTTTTCAAAAGTAAAAGTACATGGA
TAATACAAAGTTAAATTTTGTAGAATCATAAAGAAAAGCAACACCTTCCCATCTTAACTCCCCTAGTGCCTCTACTCCCTCCACAGAGACAAATATCTTACCAGTTGGTTGTGTTTTCTTTTCCAAAC
TGTATTTCTAAAATGTGTCAATATCTCTTCCTTTTATTTTTTATTTTTTGTAGAGACAGGGGTCTCACTGTGCTGCCTAGGCTGGTCTCAAACTCCTGGCCTCCTACCTCGACTTCTCATAGTTCTGG
CGTGAGCTACTGCACCTGGCCTCCCCCTTATTATTTTTTTAAACATGAATGGAAGCATACTATATTTTCTACACTTTATTTGTTTTATGTAACTATTTTAACAACCTGAGGACTTTTACAGGCTGCAT
AATATGTCTTAATATGGATGTATCTTAGTTTATTTAAACAGTTACTGGTGATGGACATTTCCATGTTTCCAGTATTTTTTCTCACAAACAATGCAGTATTATGCCTTTGTCCACATTCACCATTGATT
GCTATTGAGTATATCTGTAGCATCAAGAATAGGCATACTGAAAATCCTCCATGAAGTCCAGTGAAGCTTCATATTATTTTGAAGTGATATTTCCCAGTGTTGGCTGGACTCTCAAGCGTTTGTGGTAT
AGGTTTTGGGAGGACTGGACACTTCCAAAGAGAAATAAGATGTTACAGACTTGTCCAGCAGGTGGCATCAGAACAAAGCTGGCTATGGACCTTGTCAGTACAAATGATAAAACATTAAAAATGTAAAA
ACTCAACTGTAGCTCCTTGTTTATACATATATTGGGGGTGTTGAAAAGTTACCGATGCCTGATTCCTCTTCTATGTCCTCAGCCCCCACCATAAAAATAGATAAATGCCATTTTTTTTGTATGCCCAG
CACAGCTATATGATTTGAATAATCTTGATAAGCAGGGTCACATTTGAGGAGATTTGCTAAGGGAAATGAAGATCCATCTGTGACACAAGAAACATGTTCTATGTGATTTCTGGGATTTTCCTGTGAAC
ATACTTCTTGTTTGTTTGTTTTACAGTGGATCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGTGCAATCATAGCTCACTGCAACCTTGAGCTCCTGGGCTCAGGAGAGCCTCTCTCCTCAGTCTCCC
AAGTAGCTAGGACTACAGACACATGCCATCATGCCAGGCTCATTTTAAAATTTTTTGTAGAGACGGGTCTCACTATGTTGCTCAGGCTGGTATTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAG
CATCTCAAAGTGTTGGGATTACAGGTGTGAACCATAGTATCCAACCTATTATGTTTTTTTAAAAAGAGATTGTTCTAATTATGTATATAATTAAAGTACATTAGGTTTAGTGATTGCAATTTGAGAAA
CCAATGTCCTTTCTTATTGAAAAAGGCCCTGGTACAGAAAGTGTTCTATCTTCCTCACAAGATCTGAGGTCAAAGGAGAGATTTTGAAACATTATAGCAATGGCTTCTAGTTATTGAATAAAGAATGT
CATTTGCTCCTCACAGGACCCCTTTCAGGGAGATTTCACATATTGGGAAACAGCCTCATGAGCTTTCTACAAACATCTTTGTCCTTAAGTCTTCCCATTTCAGTAATTGGCTGTACCACTCATCCAGC
AGCTTTCAAAGTAAGAAACCTGGCAATCTTCCTTTAACATCCATTTCCCTTTCCCTCATTCCCCCATATCCAATCATGTGTATTGGAGGTTTTTCCACCTCTAAACTTGAGAACCCATTTACTTTTTC
TCCATCTCCTTTGCCATCACACTAGTCCAAGTGAAGTGTTTCATCATCTCATTTGCAGCATCCTTTAGTTTACCCTAGATTATCAATTTTTGTCCCCCTCCCAATTCAGTCTCTACTCATGAGCTAAC
ATGAGTTTATTAAGTGTTCATTCTGACCATGCCATTCCTTGCTCAAAATTCTCTAGTGCCTTCCCAATGCCCTTAAAATAAAATTCCTCATATGGCCTTTGTGGATCTGCACTCCTACCTCTTCTCCT
ATTGCAACCAACCCTGTTACCTTTTTCTCTTTTCACACTGGTCTTCATTCTGTGCTGCAAACTGGCTGAGATTCTTCCATCCTCAGGGCCTTTGCACAAGTTCTTCCTTTGCCTTAGAATTCTTTCCT
GGCCTGCACATGTCTTCATCCCCTTTCCCTAAGCTAATGCCTTACCCTTTAGGTCTCATTTTAAACATCTCTTACCCAGGAAAAATTTCCCTGTCCAAACAAGTCTAGATTGGCTCCCCATTGTTTGT
TCTAACTGTTCTATATTTCTCCTTCTTAGCATTTATCACAATTCTTGGTATGTTGTGCTTTTCACTTTCTTAGTCGCTATTATTGGAGTAGGTAATACATCCATATAGTACAAAATTCAAAATGTATT
AAAGGTATAGAGTAAAAAGTCTTCTCTTCCCTGTCCCCCCGCTACCCAGTTCTCCTCTTTAGAACCACTTTTAGCATTTTGAATATCCTTCCAGAAATATTTTCTAAGTATACAAGCAATTATGTATA
TAATATTCCTCTTTATTTTTGCCTTTTTATTAATACAGATACTATATGCATTTTCTGCACTTTATCTGTTAATAATATATCTTGGCAATTATTCAATATTAATATGTAAATAGTTGCCTCTTTCTTTT
TCATGCGCCATATAATATGGACTTATAATTTATTTAACCTCTATCTAGGTTGGTTTTAGGCATTGGTTATTACAAATAATGCTGCATTGAATACCTTTGTATGTAAAGTCATTTCCCACATCTATGCC
TATAGAATAAATTACTAGAATTGAAATAATTCAGTTAAAGATTATGTGCATTTTTAATTTTGGTAGTTATTGCCAAACTGCTCTCAATGGAAGTTTTATGAATTCCCACTAGTGAATGCATTTGTCCT
CACAATTATGTCAGTGAAATTTTTGTTCTTTGCCAATGCAAGAAATGGAAAGTATCTCTTGGAAACTAATTTGCATGTTTTTTTTCCTTGCACAGTTATATTTTCATATGTTAAAGAGCCATTTGTAT
TTCTTGGTGAATTGTTCATAAACTTTGCTTACTTATTATCTAATGTCTGACTAATTTGCTACACTCTAAATTCCCAATTCATACTTAAGTCTCGCCCTTGCAATTTAGATGTACAATCTGCCTCTTCA
GTGGTTTCCACACCAAAAAATCCACAGGCTCCTGAATTTTATATGGGCCTAAGAGTCTTACTGAAAATTGGAAGTCTTAAGGTGTAGTCTATTTTATGCAGTGTGAGGCCTTTCATGCTCTGAAATGT
ACCACTCTTGACTGACTTTTTCTTCTTCACCCTGTCCGGCACTGTGCCCTTATTAGCCAGAGAAATGTTCCCCCTTTCTCCCAGGAAACGTTCTGACCTTACCCTGGTCCCTCAAGGACTCTCCTTCT
CCCCCAAATTAACTTTCAAGGAGTTTCTCCAACCCAAAATGGCACCCTTCCTGAAAAGATTTCTAGTGGATACTGTTTTCTGTACCTCACTACGGATGTATTTTGCTGCTTGGCTCCCCGTCTCCATT
TTGCTATGGCAAACATTTTTTTCCAGAAATATATCAGATAAAATGAA

hide sequence


Protein RefSeqs	NP_005735	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAD28088	(Get FASTA)	NCBI Sequence Viewer
	AAH51877	(Get FASTA)	NCBI Sequence Viewer
	BAB19786	(Get FASTA)	NCBI Sequence Viewer
	BAD92669	(Get FASTA)	NCBI Sequence Viewer
	BAG35590	(Get FASTA)	NCBI Sequence Viewer
	CAA08817	(Get FASTA)	NCBI Sequence Viewer
	CAA10274	(Get FASTA)	NCBI Sequence Viewer
	CAB45870	(Get FASTA)	NCBI Sequence Viewer
	CAH05382	(Get FASTA)	NCBI Sequence Viewer
	EAW77907	(Get FASTA)	NCBI Sequence Viewer
	EAW77908	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000369217
	ENSP00000369217.4
GenBank Protein	Q9Y4X5	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_005735 ⟸ NM_005744

- UniProtKB:

Q9UEN0 (UniProtKB/Swiss-Prot), Q9H3T6 (UniProtKB/Swiss-Prot), O76026 (UniProtKB/Swiss-Prot), B2R6U3 (UniProtKB/Swiss-Prot), Q9UP39 (UniProtKB/Swiss-Prot), Q9Y4X5 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MDSDEGYNYEFDEDEECSEEDSGAEEEEDEDDDEPDDDTLDLGEVELVEPGLGVGGERDGLLCGETGGGGGSALGPGGGGGGGGGGGGGGPGHEQEEDYRYEVLTAEQILQHMVECIREVNEVIQNPA
TITRILLSHFNWDKEKLMERYFDGNLEKLFAECHVINPSKKSRTRQMNTRSSAQDMPCQICYLNYPNSYFTGLECGHKFCMQCWSEYLTTKIMEEGMGQTISCPAHGCDILVDDNTVMRLITDSKVKL
KYQHLITNSFVECNRLLKWCPAPDCHHVVKVQYPDAKPVRCKCGRQFCFNCGENWHDPVKCKWLKKWIKKCDDDSETSNWIAANTKECPKCHVTIEKDGGCNHMVCRNQNCKAEFCWVCLGPWEPHGS
AWYNCNRYNEDDAKAARDAQERSRAALQRYLFYCNRYMNHMQSLRFEHKLYAQVKQKMEEMQQHNMSWIEVQFLKKAVDVLCQCRATLMYTYVFAFYLKKNNQSIIFENNQADLENATEVLSGYLERD
ISQDSLQDIKQKVQDKYRYCESRRRVLLQHVHEGYEKDLWEYIED

hide sequence

Ensembl Acc Id:

ENSP00000456746 ⟸ ENST00000570085

Ensembl Acc Id:

ENSP00000457767 ⟸ ENST00000561770

Ensembl Acc Id:

ENSP00000369217 ⟸ ENST00000379887

Ensembl Acc Id:

ENSP00000477687 ⟸ ENST00000562891

Protein Domains

Ariadne E3 ubiquitin-protein ligase ARIH1-like UBA-like IBR

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9Y4X5-F1-model_v2	AlphaFold	Q9Y4X5	1-557	view protein structure

RGD ID:

6792110

Promoter ID:

HG_KWN:21841

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000299305, OTTHUMT00000257350

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	15	70,553,239 - 70,553,739 (+)	MPROMDB

RGD ID:

6815092

Promoter ID:

HG_MRA:5462

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562

Transcripts:

AK000336

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	15	70,663,391 - 70,663,891 (+)	MPROMDB

RGD ID:

7230019

Promoter ID:

EPDNEW_H20755

Type:

initiation region

Name:

ARIH1_1

Description:

ariadne RBR E3 ubiquitin protein ligase 1

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	72,474,330 - 72,474,390	EPDNEW

Database	Acc Id	Source(s)
COSMIC	ARIH1	COSMIC
Ensembl Genes	ENSG00000166233	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000379887	ENTREZGENE
	ENST00000379887.9	UniProtKB/Swiss-Prot
Gene3D-CATH	1.20.120.1750	UniProtKB/Swiss-Prot
	3.30.40.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000166233	GTEx
HGNC ID	HGNC:689	ENTREZGENE
Human Proteome Map	ARIH1	Human Proteome Map
InterPro	Ariadne	UniProtKB/Swiss-Prot
	ARIH1-like_UBL	UniProtKB/Swiss-Prot
	E3_UB_ligase_RBR	UniProtKB/Swiss-Prot
	IBR_dom	UniProtKB/Swiss-Prot
	TRIAD_supradom	UniProtKB/Swiss-Prot
	Znf_C3HC4_RING-type	UniProtKB/Swiss-Prot
	Znf_RING	UniProtKB/Swiss-Prot
	Znf_RING/FYVE/PHD	UniProtKB/Swiss-Prot
KEGG Report	hsa:25820	UniProtKB/Swiss-Prot
NCBI Gene	25820	ENTREZGENE
OMIM	605624	OMIM
PANTHER	PTHR11685	UniProtKB/Swiss-Prot
Pfam	ARI1_UBAl	UniProtKB/Swiss-Prot
	Ariadne	UniProtKB/Swiss-Prot
	IBR	UniProtKB/Swiss-Prot
	IBR_1	UniProtKB/Swiss-Prot
	zf-C3HC4	UniProtKB/Swiss-Prot
PharmGKB	PA24982	PharmGKB
PROSITE	TRIAD	UniProtKB/Swiss-Prot
	ZF_RING_2	UniProtKB/Swiss-Prot
SMART	IBR	UniProtKB/Swiss-Prot
	RING	UniProtKB/Swiss-Prot
Superfamily-SCOP	RING/U-box	UniProtKB/Swiss-Prot
UniProt	A0A087WT96_HUMAN	UniProtKB/TrEMBL
	ARI1_HUMAN	UniProtKB/Swiss-Prot
	B2R6U3	ENTREZGENE
	H3BNB9_HUMAN	UniProtKB/TrEMBL
	H3BSK4_HUMAN	UniProtKB/TrEMBL
	H3BUS0_HUMAN	UniProtKB/TrEMBL
	O76026	ENTREZGENE
	Q9H3T6	ENTREZGENE
	Q9UEN0	ENTREZGENE
	Q9UP39	ENTREZGENE
	Q9Y4X5	ENTREZGENE
UniProt Secondary	B2R6U3	UniProtKB/Swiss-Prot
	O76026	UniProtKB/Swiss-Prot
	Q9H3T6	UniProtKB/Swiss-Prot
	Q9UEN0	UniProtKB/Swiss-Prot
	Q9UP39	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2013-10-22	ARIH1	ariadne RBR E3 ubiquitin protein ligase 1		ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)	Symbol and/or name change	5135510	APPROVED

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


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


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

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