ARIH1 (ariadne RBR E3 ubiquitin protein ligase 1) - Rat Genome Database

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Gene: ARIH1 (ariadne RBR E3 ubiquitin protein ligase 1) Homo sapiens
Analyze
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
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381572,474,330 - 72,602,987 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1572,474,330 - 72,602,987 (+)EnsemblGRCh38hg38GRCh38
GRCh371572,766,671 - 72,895,328 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361570,553,721 - 70,662,877 (+)NCBINCBI36Build 36hg18NCBI36
Build 341570,553,720 - 70,662,877NCBI
Celera1549,652,768 - 49,763,614 (+)NCBICelera
Cytogenetic Map15q24.1NCBI
HuRef1549,597,019 - 49,709,554 (+)NCBIHuRef
CHM1_11572,884,658 - 72,996,840 (+)NCBICHM1_1
T2T-CHM13v2.01570,291,593 - 70,420,271 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
4,4'-sulfonyldiphenol  (EXP)
acrylamide  (ISO)
aflatoxin B1  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
calciol  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
cisplatin  (EXP,ISO)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
DDE  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
doxorubicin  (EXP,ISO)
elemental selenium  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
etoposide  (ISO)
fenofibrate  (ISO)
fenvalerate  (ISO)
flutamide  (ISO)
FR900359  (EXP)
hypochlorous acid  (ISO)
ivermectin  (EXP)
ketamine  (ISO)
methamphetamine  (ISO)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
Methylazoxymethanol acetate  (ISO)
methylmercury chloride  (EXP)
mitomycin C  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
ouabain  (EXP)
oxaliplatin  (ISO)
ozone  (EXP,ISO)
paracetamol  (EXP,ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
selenium atom  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenate  (EXP)
sodium arsenite  (EXP)
Soman  (ISO)
temozolomide  (EXP)
tetrachloromethane  (ISO)
tetrahydropalmatine  (EXP)
thiram  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
trimellitic anhydride  (ISO)
valproic acid  (EXP)
vitamin E  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# 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
Additional References at PubMed
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:37495603   PMID:37827155   PMID:38386664   PMID:38803224  


Genomics

Comparative Map Data
ARIH1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381572,474,330 - 72,602,987 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1572,474,330 - 72,602,987 (+)EnsemblGRCh38hg38GRCh38
GRCh371572,766,671 - 72,895,328 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361570,553,721 - 70,662,877 (+)NCBINCBI36Build 36hg18NCBI36
Build 341570,553,720 - 70,662,877NCBI
Celera1549,652,768 - 49,763,614 (+)NCBICelera
Cytogenetic Map15q24.1NCBI
HuRef1549,597,019 - 49,709,554 (+)NCBIHuRef
CHM1_11572,884,658 - 72,996,840 (+)NCBICHM1_1
T2T-CHM13v2.01570,291,593 - 70,420,271 (+)NCBIT2T-CHM13v2.0
Arih1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39959,295,837 - 59,395,469 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl959,295,541 - 59,393,901 (-)EnsemblGRCm39 Ensembl
GRCm38959,388,554 - 59,488,186 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl959,388,258 - 59,486,618 (-)EnsemblGRCm38mm10GRCm38
MGSCv37959,236,361 - 59,334,181 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36959,190,602 - 59,284,291 (-)NCBIMGSCv36mm8
Celera956,615,709 - 56,713,470 (-)NCBICelera
Cytogenetic Map9BNCBI
cM Map932.01NCBI
Arih1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8868,673,199 - 68,775,648 (-)NCBIGRCr8
mRatBN7.2859,777,378 - 59,879,762 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl859,777,379 - 59,880,245 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx865,301,933 - 65,403,940 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0863,574,949 - 63,676,955 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0861,444,284 - 61,546,293 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0864,166,359 - 64,268,555 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl864,166,360 - 64,268,555 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0863,928,309 - 64,030,505 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4863,201,871 - 63,305,302 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1863,223,929 - 63,324,356 (-)NCBI
Celera859,219,248 - 59,321,584 (-)NCBICelera
Cytogenetic Map8q24NCBI
Arih1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554504,683,118 - 4,737,994 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554504,683,118 - 4,737,793 (-)NCBIChiLan1.0ChiLan1.0
ARIH1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21661,736,831 - 61,847,988 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11565,901,074 - 66,012,216 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01551,423,132 - 51,534,278 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1 Ensembl1570,187,722 - 70,297,226 (+)Ensemblpanpan1.1panPan2
ARIH1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13035,927,277 - 36,040,168 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3035,927,233 - 36,108,381 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3035,863,589 - 35,988,001 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03036,133,344 - 36,257,840 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3036,133,366 - 36,246,243 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13036,084,559 - 36,202,242 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03036,112,246 - 36,236,422 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03036,367,971 - 36,492,251 (+)NCBIUU_Cfam_GSD_1.0
Arih1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640113,974,529 - 114,102,322 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647131,822,592 - 31,947,624 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647131,822,592 - 31,947,624 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ARIH1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl760,710,051 - 60,824,101 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1760,707,483 - 60,824,117 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2765,167,891 - 65,209,110 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ARIH1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12610,890,440 - 11,002,812 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2610,893,735 - 11,002,159 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666048130,582,412 - 130,699,103 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Arih1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247811,567,343 - 1,665,766 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ARIH1
152 total Variants

Clinical 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 15q23-25.1(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
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
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
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 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
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_000015.10: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
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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.217G>C (p.Ala73Pro) single nucleotide variant not specified [RCV004180007] Chr15:72474856 [GRCh38]
Chr15:72767197 [GRCh37]
Chr15:15q24.1		 uncertain significance
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] 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
miRNA Target Status

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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407133232GWAS782208_Hlanguage measurement QTL GWAS782208 (human)0.0000006language measurement157251011572510116Human
407106968GWAS755944_Hbody height QTL GWAS755944 (human)7e-15body height (VT:0001253)body height (CMO:0000106)157250583772505838Human
406886219GWAS535195_Hposterior cortical atrophy, Alzheimer disease QTL GWAS535195 (human)0.000006posterior cortical atrophy, Alzheimer disease157251906172519062Human
407276360GWAS925336_Hbody height QTL GWAS925336 (human)1e-42body height (VT:0001253)body height (CMO:0000106)157250851272508513Human

Markers in Region
A004P07  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,877,575 - 72,877,840UniSTSGRCh37
Build 361570,664,629 - 70,664,894RGDNCBI36
Celera1549,762,293 - 49,762,558RGD
Cytogenetic Map15q24UniSTS
Cytogenetic Map15q24.1UniSTS
HuRef1549,708,233 - 49,708,498UniSTS
GeneMap99-GB4 RH Map15256.87UniSTS
NCBI RH Map15486.2UniSTS
RH93460  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,797,854 - 72,798,029UniSTSGRCh37
Build 361570,584,908 - 70,585,083RGDNCBI36
Celera1549,683,978 - 49,684,153RGD
Cytogenetic Map15q24UniSTS
HuRef1549,628,498 - 49,628,673UniSTS
GeneMap99-GB4 RH Map15252.15UniSTS
D2S1933E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,876,981 - 72,877,083UniSTSGRCh37
Build 361570,664,035 - 70,664,137RGDNCBI36
Celera1549,761,699 - 49,761,801RGD
Cytogenetic Map15q24UniSTS
HuRef1549,707,639 - 49,707,741UniSTS
ARIH1_702  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,877,238 - 72,877,989UniSTSGRCh37
Build 361570,664,292 - 70,665,043RGDNCBI36
Celera1549,761,956 - 49,762,707RGD
HuRef1549,707,896 - 49,708,647UniSTS
RH47216  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,878,548 - 72,878,695UniSTSGRCh37
Build 361570,665,602 - 70,665,749RGDNCBI36
Celera1549,763,266 - 49,763,413RGD
Cytogenetic Map15q24UniSTS
Cytogenetic Map15q24.1UniSTS
HuRef1549,709,206 - 49,709,353UniSTS
GeneMap99-GB4 RH Map15253.26UniSTS
NCBI RH Map15436.8UniSTS
SHGC-36787  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,877,748 - 72,877,851UniSTSGRCh37
Build 361570,664,802 - 70,664,905RGDNCBI36
Celera1549,762,466 - 49,762,569RGD
Cytogenetic Map15q24UniSTS
Cytogenetic Map15q24.1UniSTS
HuRef1549,708,406 - 49,708,509UniSTS
Stanford-G3 RH Map152515.0UniSTS
GeneMap99-G3 RH Map152510.0UniSTS
RH77925  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,823,976 - 72,824,055UniSTSGRCh37
Build 361570,611,030 - 70,611,109RGDNCBI36
Celera1549,708,682 - 49,708,761RGD
Cytogenetic Map15q24UniSTS
HuRef1549,654,608 - 49,654,687UniSTS
GeneMap99-GB4 RH Map15253.26UniSTS
NCBI RH Map15436.8UniSTS
SHGC-34211  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,878,547 - 72,878,696UniSTSGRCh37
Build 361570,665,601 - 70,665,750RGDNCBI36
Celera1549,763,265 - 49,763,414RGD
Cytogenetic Map15q24UniSTS
Cytogenetic Map15q24.1UniSTS
HuRef1549,709,205 - 49,709,354UniSTS
TNG Radiation Hybrid Map1527913.0UniSTS
GeneMap99-GB4 RH Map15255.26UniSTS
Whitehead-RH Map15247.2UniSTS
NCBI RH Map15440.4UniSTS
GeneMap99-G3 RH Map152510.0UniSTS


Expression

RNA-SEQ Expression

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

Sequence

Nucleotide Sequences
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 AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,474,330 - 72,602,987 (+)Ensembl
Ensembl Acc Id: ENST00000561770   ⟹   ENSP00000457767
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,572,126 - 72,582,133 (+)Ensembl
Ensembl Acc Id: ENST00000561987
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,561,452 - 72,582,118 (+)Ensembl
Ensembl Acc Id: ENST00000562891   ⟹   ENSP00000477687
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,580,731 - 72,583,551 (+)Ensembl
Ensembl Acc Id: ENST00000563310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,581,472 - 72,586,559 (+)Ensembl
Ensembl Acc Id: ENST00000564062   ⟹   ENSP00000454774
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,474,645 - 72,563,500 (+)Ensembl
Ensembl Acc Id: ENST00000565950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,566,370 - 72,580,779 (+)Ensembl
Ensembl Acc Id: ENST00000566063
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,580,558 - 72,583,290 (+)Ensembl
Ensembl Acc Id: ENST00000567762
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,474,936 - 72,544,923 (+)Ensembl
Ensembl Acc Id: ENST00000570085   ⟹   ENSP00000456746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,474,490 - 72,561,547 (+)Ensembl
RefSeq Acc Id: NM_005744   ⟹   NP_005735
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381572,474,330 - 72,602,987 (+)NCBI
GRCh371572,766,667 - 72,878,904 (+)NCBI
Build 361570,553,721 - 70,662,877 (+)NCBI Archive
Celera1549,652,768 - 49,763,614 (+)RGD
HuRef1549,597,019 - 49,709,554 (+)ENTREZGENE
CHM1_11572,884,658 - 72,996,840 (+)NCBI
T2T-CHM13v2.01570,291,593 - 70,420,271 (+)NCBI
Sequence:
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:
Ensembl Acc Id: ENSP00000456746   ⟸   ENST00000570085
Ensembl Acc Id: ENSP00000457767   ⟸   ENST00000561770
Ensembl Acc Id: ENSP00000369217   ⟸   ENST00000379887
Ensembl Acc Id: ENSP00000477687   ⟸   ENST00000562891
Ensembl Acc Id: ENSP00000454774   ⟸   ENST00000564062
Protein Domains
Ariadne   E3 ubiquitin-protein ligase ARIH1-like UBA-like   IBR

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

Promoters
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 AssemblyChrPosition (strand)Source
Build 361570,553,239 - 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 AssemblyChrPosition (strand)Source
Build 361570,663,391 - 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 AssemblyChrPosition (strand)Source
GRCh381572,474,330 - 72,474,390EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:689 AgrOrtholog
COSMIC ARIH1 COSMIC
Ensembl Genes ENSG00000166233 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000379887 ENTREZGENE
  ENST00000379887.9 UniProtKB/Swiss-Prot
  ENST00000561770.1 UniProtKB/TrEMBL
  ENST00000562891.2 UniProtKB/TrEMBL
  ENST00000564062.1 UniProtKB/TrEMBL
  ENST00000570085.5 UniProtKB/TrEMBL
Gene3D-CATH 1.20.120.1750 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  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, UniProtKB/TrEMBL
  ARIH1-like_UBL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  E3_UB_ligase_RBR UniProtKB/Swiss-Prot
  IBR_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  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 E3 UBIQUITIN-PROTEIN LIGASE ARIH1 UniProtKB/Swiss-Prot
  PTHR11685 UniProtKB/Swiss-Prot
Pfam ARI1_UBAl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ariadne UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IBR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  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, UniProtKB/TrEMBL
  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