ARV1 (ARV1 homolog, fatty acid homeostasis modulator) - Rat Genome Database

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Gene: ARV1 (ARV1 homolog, fatty acid homeostasis modulator) Homo sapiens
Analyze
Symbol: ARV1
Name: ARV1 homolog, fatty acid homeostasis modulator
RGD ID: 1349198
HGNC Page HGNC:29561
Description: Predicted to enable sterol transfer activity. Involved in regulation of cholesterol metabolic process and regulation of intracellular cholesterol transport. Acts upstream of or within cholesterol transport. Located in endoplasmic reticulum membrane. Implicated in developmental and epileptic encephalopathy 38.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ARV1 fatty acid homeostatsis modulator; ARV1 homolog; ARV1 homolog, fatty acid homeostatsis modulator; DEE38; EIEE38; hARV1
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
GRCh381230,979,094 - 231,000,733 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1230,978,981 - 231,000,733 (+)EnsemblGRCh38hg38GRCh38
GRCh371231,114,840 - 231,136,479 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361229,181,446 - 229,203,102 (+)NCBINCBI36Build 36hg18NCBI36
Build 341227,421,557 - 227,443,212NCBI
Celera1204,380,771 - 204,402,432 (+)NCBICelera
Cytogenetic Map1q42.2NCBI
HuRef1201,599,541 - 201,621,202 (+)NCBIHuRef
CHM1_11232,388,113 - 232,409,767 (+)NCBICHM1_1
T2T-CHM13v2.01230,359,572 - 230,381,205 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11063737   PMID:12145310   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16196087   PMID:16710414   PMID:17207965   PMID:20663892   PMID:21873635   PMID:21890473   PMID:21963094  
PMID:24273168   PMID:26186194   PMID:26460143   PMID:26496610   PMID:27104745   PMID:27270415   PMID:28298427   PMID:28514442   PMID:29987050   PMID:32165008   PMID:32296183   PMID:32462292  
PMID:33961781   PMID:34186245   PMID:34296759   PMID:35271311   PMID:35696571   PMID:37314216  


Genomics

Comparative Map Data
ARV1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381230,979,094 - 231,000,733 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1230,978,981 - 231,000,733 (+)EnsemblGRCh38hg38GRCh38
GRCh371231,114,840 - 231,136,479 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361229,181,446 - 229,203,102 (+)NCBINCBI36Build 36hg18NCBI36
Build 341227,421,557 - 227,443,212NCBI
Celera1204,380,771 - 204,402,432 (+)NCBICelera
Cytogenetic Map1q42.2NCBI
HuRef1201,599,541 - 201,621,202 (+)NCBIHuRef
CHM1_11232,388,113 - 232,409,767 (+)NCBICHM1_1
T2T-CHM13v2.01230,359,572 - 230,381,205 (+)NCBIT2T-CHM13v2.0
Arv1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398125,448,765 - 125,469,533 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl8125,448,878 - 125,460,862 (+)EnsemblGRCm39 Ensembl
GRCm388124,722,026 - 124,742,794 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8124,722,139 - 124,734,123 (+)EnsemblGRCm38mm10GRCm38
MGSCv378127,246,039 - 127,258,023 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv368127,608,229 - 127,620,213 (+)NCBIMGSCv36mm8
Celera8129,027,282 - 129,042,285 (+)NCBICelera
Cytogenetic Map8E2NCBI
cM Map872.81NCBI
Arv1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81969,589,728 - 69,601,547 (+)NCBIGRCr8
mRatBN7.21952,692,337 - 52,704,156 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1952,692,337 - 52,704,156 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1959,477,003 - 59,489,034 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01960,327,753 - 60,339,568 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01962,403,453 - 62,415,484 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01957,484,720 - 57,496,539 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1957,484,634 - 57,496,695 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01968,189,521 - 68,201,340 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41954,904,721 - 54,916,541 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11954,909,646 - 54,921,403 (+)NCBI
Celera1952,060,698 - 52,072,513 (+)NCBICelera
Cytogenetic Map19q12NCBI
Arv1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554927,672,746 - 7,683,728 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554927,669,956 - 7,683,293 (-)NCBIChiLan1.0ChiLan1.0
ARV1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2118,206,337 - 18,228,141 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1118,402,184 - 18,420,649 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01206,527,777 - 206,549,606 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11211,554,553 - 211,576,484 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1211,554,553 - 211,576,484 (+)Ensemblpanpan1.1panPan2
ARV1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.148,409,039 - 8,424,776 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl48,409,484 - 8,424,644 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha48,400,805 - 8,416,587 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.048,433,785 - 8,449,987 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl48,433,790 - 8,449,888 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.148,437,946 - 8,453,484 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.048,559,958 - 8,575,500 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.048,790,025 - 8,805,558 (-)NCBIUU_Cfam_GSD_1.0
Arv1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934443,386,058 - 43,396,908 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648419,551,293 - 19,562,138 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648419,551,293 - 19,562,132 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ARV1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1459,396,962 - 59,408,958 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11459,396,958 - 59,409,008 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21464,061,498 - 64,073,531 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ARV1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12568,251,110 - 68,271,530 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2568,251,130 - 68,271,607 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605570,157,256 - 70,177,626 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Arv1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477518,638,010 - 18,652,985 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477518,634,671 - 18,652,476 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ARV1
43 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_022786.3(ARV1):c.175-10A>C single nucleotide variant not provided [RCV000914397] Chr1:230988310 [GRCh38]
Chr1:231124056 [GRCh37]
Chr1:1q42.2		 likely benign
GRCh38/hg38 1q42.2(chr1:230519755-231232066)x3 copy number gain See cases [RCV000050291] Chr1:230519755..231232066 [GRCh38]
Chr1:230655501..231367812 [GRCh37]
Chr1:228722124..229434435 [NCBI36]
Chr1:1q42.2		 uncertain significance
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q42.13-42.2(chr1:229883805-231517553)x3 copy number gain See cases [RCV000051559] Chr1:229883805..231517553 [GRCh38]
Chr1:230019552..231653299 [GRCh37]
Chr1:228086175..229719922 [NCBI36]
Chr1:1q42.13-42.2		 uncertain significance
GRCh38/hg38 1q42.13-42.2(chr1:230489657-231243203)x3 copy number gain See cases [RCV000051560] Chr1:230489657..231243203 [GRCh38]
Chr1:230625403..231378949 [GRCh37]
Chr1:228692026..229445572 [NCBI36]
Chr1:1q42.13-42.2		 uncertain significance
GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1 copy number loss See cases [RCV000051082] Chr1:230106271..243677283 [GRCh38]
Chr1:230242018..243840585 [GRCh37]
Chr1:228308641..241907208 [NCBI36]
Chr1:1q42.13-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 copy number gain See cases [RCV000051882] Chr1:224096488..248918469 [GRCh38]
Chr1:224284190..249212668 [GRCh37]
Chr1:222350813..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q42.2(chr1:230749331-231192557)x1 copy number loss See cases [RCV000133617] Chr1:230749331..231192557 [GRCh38]
Chr1:230885077..231328303 [GRCh37]
Chr1:228951700..229394926 [NCBI36]
Chr1:1q42.2		 uncertain significance
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 copy number gain See cases [RCV000135839] Chr1:223815147..248918469 [GRCh38]
Chr1:224002849..249212668 [GRCh37]
Chr1:222069472..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1 copy number loss See cases [RCV000135796] Chr1:226185124..232872488 [GRCh38]
Chr1:226372825..233008234 [GRCh37]
Chr1:224439448..231074857 [NCBI36]
Chr1:1q42.12-42.2		 pathogenic
GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3 copy number gain See cases [RCV000136666] Chr1:229022909..248918469 [GRCh38]
Chr1:229158656..249212668 [GRCh37]
Chr1:227225279..247179291 [NCBI36]
Chr1:1q42.13-44		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 copy number gain See cases [RCV000137769] Chr1:224022862..248918469 [GRCh38]
Chr1:224210564..249212668 [GRCh37]
Chr1:222277187..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3 copy number gain See cases [RCV000142448] Chr1:225438480..248787200 [GRCh38]
Chr1:225626182..249060210 [GRCh37]
Chr1:223692805..247048022 [NCBI36]
Chr1:1q42.12-44		 pathogenic
NM_022786.3(ARV1):c.94T>C (p.Tyr32His) single nucleotide variant not provided [RCV000515018] Chr1:230979199 [GRCh38]
Chr1:231114945 [GRCh37]
Chr1:1q42.2		 benign|likely benign
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q42.2(chr1:230519755-231232066)x3 copy number gain See cases [RCV000148222] Chr1:230519755..231232066 [GRCh38]
Chr1:230655501..231367812 [GRCh37]
Chr1:228722124..229434435 [NCBI36]
Chr1:1q42.2		 uncertain significance
NM_022786.3(ARV1):c.565G>A (p.Gly189Arg) single nucleotide variant Abnormality of the nervous system [RCV001814076]|Blindness [RCV000162175]|Developmental and epileptic encephalopathy, 38 [RCV000235018] Chr1:230995876 [GRCh38]
Chr1:231131622 [GRCh37]
Chr1:1q42.2		 pathogenic|likely pathogenic
NM_022786.3(ARV1):c.294+1G>A single nucleotide variant ARV1-related disorder [RCV000234848]|Developmental and epileptic encephalopathy, 38 [RCV000235015] Chr1:230988440 [GRCh38]
Chr1:231124186 [GRCh37]
Chr1:1q42.2		 pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_022786.3(ARV1):c.656A>C (p.Asn219Thr) single nucleotide variant Inborn genetic diseases [RCV002524037]|See cases [RCV002252139]|not provided [RCV000493727] Chr1:230995967 [GRCh38]
Chr1:231131713 [GRCh37]
Chr1:1q42.2		 uncertain significance
GRCh37/hg19 1q42.13-42.2(chr1:230619349-231413907)x3 copy number gain See cases [RCV000511859] Chr1:230619349..231413907 [GRCh37]
Chr1:1q42.13-42.2		 uncertain significance
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 copy number gain See cases [RCV000510981] Chr1:224105294..249224684 [GRCh37]
Chr1:1q42.11-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_022786.3(ARV1):c.217C>T (p.Pro73Ser) single nucleotide variant Inborn genetic diseases [RCV003261502] Chr1:230988362 [GRCh38]
Chr1:231124108 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_022786.3(ARV1):c.674-2A>T single nucleotide variant Developmental and epileptic encephalopathy, 38 [RCV000626020]|Inborn genetic diseases [RCV000623178] Chr1:230997119 [GRCh38]
Chr1:231132865 [GRCh37]
Chr1:1q42.2		 pathogenic|uncertain significance
t(1;3)(q44;p25)dn translocation not specified [RCV000714249] Chr1:231122975..231122976 [GRCh37]
Chr3:28822575..28822579 [GRCh37]
Chr1:1q42.2
Chr3:3p24.1		 uncertain significance
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3 copy number gain not provided [RCV000684707] Chr1:228529973..249181598 [GRCh37]
Chr1:1q42.13-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_022786.3(ARV1):c.732G>A (p.Leu244=) single nucleotide variant not provided [RCV001532577] Chr1:230997179 [GRCh38]
Chr1:231132925 [GRCh37]
Chr1:1q42.2		 likely benign
NM_022786.3(ARV1):c.64A>T (p.Thr22Ser) single nucleotide variant ARV1-related disorder [RCV003905787]|not provided [RCV000958554]|not specified [RCV001819017] Chr1:230979169 [GRCh38]
Chr1:231114915 [GRCh37]
Chr1:1q42.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_022786.3(ARV1):c.528C>T (p.Phe176=) single nucleotide variant ARV1-related disorder [RCV003933084]|not provided [RCV000918785] Chr1:230995839 [GRCh38]
Chr1:231131585 [GRCh37]
Chr1:1q42.2		 benign|likely benign
NM_022786.3(ARV1):c.360A>G (p.Gln120=) single nucleotide variant not provided [RCV000899123] Chr1:230990175 [GRCh38]
Chr1:231125921 [GRCh37]
Chr1:1q42.2		 likely benign
NM_022786.3(ARV1):c.302G>A (p.Gly101Glu) single nucleotide variant ARV1-related disorder [RCV003962887]|not provided [RCV000972068] Chr1:230990117 [GRCh38]
Chr1:231125863 [GRCh37]
Chr1:1q42.2		 benign
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3 copy number gain not provided [RCV001005175] Chr1:219916966..239004378 [GRCh37]
Chr1:1q41-43		 pathogenic
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44		 pathogenic
NM_022786.3(ARV1):c.517_518insC (p.Lys173fs) insertion not provided [RCV001008423] Chr1:230995828..230995829 [GRCh38]
Chr1:231131574..231131575 [GRCh37]
Chr1:1q42.2		 likely pathogenic
GRCh37/hg19 1q42.2(chr1:230921930-231387086)x3 copy number gain not provided [RCV000847404] Chr1:230921930..231387086 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_022786.3(ARV1):c.73G>T (p.Ala25Ser) single nucleotide variant ARV1-related disorder [RCV003958303]|Inborn genetic diseases [RCV004669168]|not provided [RCV000909691] Chr1:230979178 [GRCh38]
Chr1:231114924 [GRCh37]
Chr1:1q42.2		 likely benign
GRCh37/hg19 1q42.13-42.2(chr1:230616084-231410027)x3 copy number gain not provided [RCV001005189] Chr1:230616084..231410027 [GRCh37]
Chr1:1q42.13-42.2		 uncertain significance
GRCh37/hg19 1q42.13-43(chr1:228832737-240993877)x3 copy number gain not provided [RCV001005187] Chr1:228832737..240993877 [GRCh37]
Chr1:1q42.13-43		 pathogenic
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44		 pathogenic
NM_022786.3(ARV1):c.101G>A (p.Cys34Tyr) single nucleotide variant Developmental and epileptic encephalopathy, 38 [RCV001655670]|not provided [RCV001046333] Chr1:230979206 [GRCh38]
Chr1:231114952 [GRCh37]
Chr1:1q42.2		 uncertain significance
GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1 copy number loss not provided [RCV001005180] Chr1:223653722..234591807 [GRCh37]
Chr1:1q41-42.2		 pathogenic
NM_022786.3(ARV1):c.518dup (p.Pro174fs) duplication Developmental and epileptic encephalopathy, 38 [RCV001655669]|not provided [RCV001040844] Chr1:230995820..230995821 [GRCh38]
Chr1:231131566..231131567 [GRCh37]
Chr1:1q42.2		 pathogenic|likely pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NM_022786.3(ARV1):c.175-11T>C single nucleotide variant Developmental and epileptic encephalopathy, 38 [RCV001554173]|not provided [RCV004715519] Chr1:230988309 [GRCh38]
Chr1:231124055 [GRCh37]
Chr1:1q42.2		 benign
NM_022786.3(ARV1):c.363_364del (p.Ser122fs) deletion Developmental and epileptic encephalopathy, 38 [RCV001262173] Chr1:230990178..230990179 [GRCh38]
Chr1:231125924..231125925 [GRCh37]
Chr1:1q42.2		 likely pathogenic
NM_022786.3(ARV1):c.292_294+1del deletion Developmental and epileptic encephalopathy, 38 [RCV001262616] Chr1:230988437..230988440 [GRCh38]
Chr1:231124183..231124186 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_022786.3(ARV1):c.175-2A>G single nucleotide variant Developmental and epileptic encephalopathy, 38 [RCV001329920] Chr1:230988318 [GRCh38]
Chr1:231124064 [GRCh37]
Chr1:1q42.2		 likely pathogenic
NM_022786.3(ARV1):c.*4+1G>A single nucleotide variant ARV1-related disorder [RCV003954091]|not provided [RCV003329854]|not specified [RCV004765801] Chr1:230997268 [GRCh38]
Chr1:231133014 [GRCh37]
Chr1:1q42.2		 pathogenic|likely benign|uncertain significance
NM_022786.3(ARV1):c.29A>G (p.Gln10Arg) single nucleotide variant Developmental and epileptic encephalopathy, 38 [RCV001336587] Chr1:230979134 [GRCh38]
Chr1:231114880 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_022786.3(ARV1):c.309_310del (p.Cys104fs) microsatellite not provided [RCV001291569] Chr1:230990122..230990123 [GRCh38]
Chr1:231125868..231125869 [GRCh37]
Chr1:1q42.2		 likely pathogenic
NM_022786.3(ARV1):c.448+1G>T single nucleotide variant not provided [RCV001377260] Chr1:230990264 [GRCh38]
Chr1:231126010 [GRCh37]
Chr1:1q42.2		 likely pathogenic
NM_022786.3(ARV1):c.518del (p.Lys173fs) deletion not provided [RCV003159363] Chr1:230995821 [GRCh38]
Chr1:231131567 [GRCh37]
Chr1:1q42.2		 likely pathogenic
GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227) copy number loss not specified [RCV002052878] Chr1:226131690..231908227 [GRCh37]
Chr1:1q42.12-42.2		 likely pathogenic
GRCh37/hg19 1q42.13-42.2(chr1:228214912-231483538) copy number loss not specified [RCV002052889] Chr1:228214912..231483538 [GRCh37]
Chr1:1q42.13-42.2		 pathogenic
NM_022786.3(ARV1):c.175-3_175-2inv inversion Developmental and epileptic encephalopathy, 38 [RCV001843749] Chr1:230988317..230988318 [GRCh38]
Chr1:231124063..231124064 [GRCh37]
Chr1:1q42.2		 pathogenic
NM_022786.3(ARV1):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV001824506] Chr1:230979107 [GRCh38]
Chr1:231114853 [GRCh37]
Chr1:1q42.2		 likely pathogenic
NC_000001.10:g.(?_229567246)_(232172577_?)dup duplication Actin accumulation myopathy [RCV003120751]|not provided [RCV001943051] Chr1:229567246..232172577 [GRCh37]
Chr1:1q42.13-42.2		 uncertain significance|no classifications from unflagged records
NC_000001.10:g.(?_230203028)_(231413288_?)del deletion Congenital disorder of glycosylation, type IIq [RCV003109448]|not provided [RCV003113491] Chr1:230203028..231413288 [GRCh37]
Chr1:1q42.13-42.2		 pathogenic|no classifications from unflagged records
NC_000001.10:g.(?_229567246)_(231413288_?)del deletion not provided [RCV003116710] Chr1:229567246..231413288 [GRCh37]
Chr1:1q42.13-42.2		 pathogenic
NM_022786.3(ARV1):c.746T>A (p.Val249Asp) single nucleotide variant not provided [RCV002288115] Chr1:230997193 [GRCh38]
Chr1:231132939 [GRCh37]
Chr1:1q42.2		 uncertain significance
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1q42.13-43(chr1:227992928-236659905)x3 copy number gain not provided [RCV002475638] Chr1:227992928..236659905 [GRCh37]
Chr1:1q42.13-43		 likely pathogenic
NM_022786.3(ARV1):c.573_574del (p.Leu192fs) microsatellite Developmental and epileptic encephalopathy, 38 [RCV002510669] Chr1:230995882..230995883 [GRCh38]
Chr1:231131628..231131629 [GRCh37]
Chr1:1q42.2		 likely pathogenic
GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3 copy number gain not provided [RCV002475745] Chr1:223972939..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1q42.2(chr1:231126647-231194176)x1 copy number loss not provided [RCV002475818] Chr1:231126647..231194176 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_022786.3(ARV1):c.646C>T (p.Leu216Phe) single nucleotide variant Inborn genetic diseases [RCV002911632] Chr1:230995957 [GRCh38]
Chr1:231131703 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_022786.3(ARV1):c.502A>G (p.Met168Val) single nucleotide variant Inborn genetic diseases [RCV002781834] Chr1:230995813 [GRCh38]
Chr1:231131559 [GRCh37]
Chr1:1q42.2		 uncertain significance
GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3 copy number gain not provided [RCV002509019] Chr1:224230307..243181599 [GRCh37]
Chr1:1q42.11-43		 not provided
NM_022786.3(ARV1):c.667A>G (p.Ile223Val) single nucleotide variant Inborn genetic diseases [RCV002944373] Chr1:230995978 [GRCh38]
Chr1:231131724 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_022786.3(ARV1):c.475T>A (p.Phe159Ile) single nucleotide variant Inborn genetic diseases [RCV003218640] Chr1:230995786 [GRCh38]
Chr1:231131532 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_022786.3(ARV1):c.691C>T (p.Arg231Cys) single nucleotide variant Developmental and epileptic encephalopathy, 38 [RCV003141548] Chr1:230997138 [GRCh38]
Chr1:231132884 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_022786.3(ARV1):c.148del (p.His50fs) deletion Inborn genetic diseases [RCV003198049] Chr1:230979252 [GRCh38]
Chr1:231114998 [GRCh37]
Chr1:1q42.2		 pathogenic
GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1 copy number loss Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 [RCV003327728] Chr1:230178121..243646135 [GRCh38]
Chr1:1q42.13-44		 pathogenic
NM_022786.3(ARV1):c.594_595del (p.Ile198fs) deletion Developmental and epileptic encephalopathy, 38 [RCV003444167] Chr1:230995904..230995905 [GRCh38]
Chr1:231131650..231131651 [GRCh37]
Chr1:1q42.2		 likely pathogenic
NM_022786.3(ARV1):c.712G>A (p.Val238Met) single nucleotide variant Inborn genetic diseases [RCV003372077] Chr1:230997159 [GRCh38]
Chr1:231132905 [GRCh37]
Chr1:1q42.2		 likely benign
GRCh37/hg19 1q42.13-43(chr1:230231959-238032346)x1 copy number loss not provided [RCV003484077] Chr1:230231959..238032346 [GRCh37]
Chr1:1q42.13-43		 pathogenic
GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3 copy number gain not provided [RCV003484052] Chr1:229373250..249206595 [GRCh37]
Chr1:1q42.13-44		 pathogenic
NM_022786.3(ARV1):c.81G>T (p.Ser27=) single nucleotide variant not provided [RCV003414945] Chr1:230979186 [GRCh38]
Chr1:231114932 [GRCh37]
Chr1:1q42.2		 likely benign
NM_022786.3(ARV1):c.214G>A (p.Asp72Asn) single nucleotide variant not provided [RCV003414946] Chr1:230988359 [GRCh38]
Chr1:231124105 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_022786.3(ARV1):c.295-5A>G single nucleotide variant not provided [RCV003414947] Chr1:230990105 [GRCh38]
Chr1:231125851 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_022786.3(ARV1):c.125A>G (p.Lys42Arg) single nucleotide variant Inborn genetic diseases [RCV004418320] Chr1:230979230 [GRCh38]
Chr1:231114976 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_022786.3(ARV1):c.761G>A (p.Ser254Asn) single nucleotide variant Inborn genetic diseases [RCV004418327] Chr1:230997208 [GRCh38]
Chr1:231132954 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_022786.3(ARV1):c.655A>C (p.Asn219His) single nucleotide variant not provided [RCV003887315] Chr1:230995966 [GRCh38]
Chr1:231131712 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_022786.3(ARV1):c.692G>A (p.Arg231His) single nucleotide variant Inborn genetic diseases [RCV004418325] Chr1:230997139 [GRCh38]
Chr1:231132885 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_022786.3(ARV1):c.759G>C (p.Gln253His) single nucleotide variant Inborn genetic diseases [RCV004418326] Chr1:230997206 [GRCh38]
Chr1:231132952 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_022786.3(ARV1):c.655A>G (p.Asn219Asp) single nucleotide variant Inborn genetic diseases [RCV004418324] Chr1:230995966 [GRCh38]
Chr1:231131712 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_022786.3(ARV1):c.354G>C (p.Gln118His) single nucleotide variant Inborn genetic diseases [RCV004418322] Chr1:230990169 [GRCh38]
Chr1:231125915 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_022786.3(ARV1):c.545C>T (p.Ala182Val) single nucleotide variant Inborn genetic diseases [RCV004418323] Chr1:230995856 [GRCh38]
Chr1:231131602 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_022786.3(ARV1):c.9C>T (p.Asn3=) single nucleotide variant ARV1-related disorder [RCV003962198] Chr1:230979114 [GRCh38]
Chr1:231114860 [GRCh37]
Chr1:1q42.2		 likely benign
NM_022786.3(ARV1):c.283A>C (p.Thr95Pro) single nucleotide variant ARV1-related disorder [RCV004733863] Chr1:230988428 [GRCh38]
Chr1:231124174 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_022786.3(ARV1):c.179C>A (p.Ser60Tyr) single nucleotide variant Inborn genetic diseases [RCV004418321] Chr1:230988324 [GRCh38]
Chr1:231124070 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_022786.3(ARV1):c.49G>A (p.Asp17Asn) single nucleotide variant Inborn genetic diseases [RCV003357795] Chr1:230979154 [GRCh38]
Chr1:231114900 [GRCh37]
Chr1:1q42.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1058
Count of miRNA genes:455
Interacting mature miRNAs:477
Transcripts:ENST00000310256, ENST00000366658, ENST00000435927, ENST00000450711, ENST00000459891, ENST00000480519, ENST00000497753
Prediction methods:Miranda, Rnahybrid
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
407329440GWAS978416_Hdiglyceride measurement QTL GWAS978416 (human)1e-08diglyceride measurement1230998470230998471Human

Markers in Region
A007E06  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371231,136,074 - 231,136,183UniSTSGRCh37
Build 361229,202,697 - 229,202,806RGDNCBI36
Celera1204,402,027 - 204,402,136RGD
Cytogenetic Map1q42.2UniSTS
HuRef1201,620,797 - 201,620,906UniSTS
GeneMap99-GB4 RH Map1737.02UniSTS
NCBI RH Map12031.7UniSTS


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 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_052022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001346992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_144538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007063028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF271780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF290878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF321442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL122047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL732414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL844165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000310256   ⟹   ENSP00000312458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1230,979,094 - 231,000,733 (+)Ensembl
Ensembl Acc Id: ENST00000366658   ⟹   ENSP00000355618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1230,979,094 - 231,000,595 (+)Ensembl
Ensembl Acc Id: ENST00000435927   ⟹   ENSP00000394547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1230,979,146 - 230,997,267 (+)Ensembl
Ensembl Acc Id: ENST00000450711   ⟹   ENSP00000416039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1230,979,116 - 230,999,803 (+)Ensembl
Ensembl Acc Id: ENST00000459891   ⟹   ENSP00000435420
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1230,995,760 - 231,000,595 (+)Ensembl
Ensembl Acc Id: ENST00000480519   ⟹   ENSP00000436763
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1230,979,111 - 230,999,867 (+)Ensembl
Ensembl Acc Id: ENST00000497753
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1230,978,981 - 230,997,154 (+)Ensembl
RefSeq Acc Id: NM_001346992   ⟹   NP_001333921
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381230,979,094 - 231,000,733 (+)NCBI
T2T-CHM13v2.01230,359,572 - 230,381,205 (+)NCBI
Sequence:
RefSeq Acc Id: NM_022786   ⟹   NP_073623
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381230,979,094 - 231,000,733 (+)NCBI
GRCh371231,114,823 - 231,136,479 (+)RGD
Build 361229,181,446 - 229,203,102 (+)NCBI Archive
Celera1204,380,771 - 204,402,432 (+)RGD
HuRef1201,599,541 - 201,621,202 (+)RGD
CHM1_11232,388,113 - 232,409,767 (+)NCBI
T2T-CHM13v2.01230,359,572 - 230,381,205 (+)NCBI
Sequence:
RefSeq Acc Id: NR_144538
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381230,979,094 - 231,000,733 (+)NCBI
T2T-CHM13v2.01230,359,572 - 230,381,205 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449202   ⟹   XP_024304970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381230,979,094 - 231,000,733 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054338307   ⟹   XP_054194282
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,359,572 - 230,381,205 (+)NCBI
RefSeq Acc Id: XR_002957381
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381230,979,094 - 231,000,733 (+)NCBI
Sequence:
RefSeq Acc Id: XR_007063028
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381230,979,094 - 231,000,733 (+)NCBI
RefSeq Acc Id: XR_008486142
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,359,572 - 230,381,205 (+)NCBI
RefSeq Acc Id: XR_008486143
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,359,572 - 230,381,205 (+)NCBI
RefSeq Acc Id: NP_073623   ⟸   NM_022786
- Peptide Label: isoform 2
- UniProtKB: Q9H5V6 (UniProtKB/Swiss-Prot),   Q9H2H2 (UniProtKB/Swiss-Prot),   Q5VSP2 (UniProtKB/Swiss-Prot),   Q5VSP0 (UniProtKB/Swiss-Prot),   Q5VSN9 (UniProtKB/Swiss-Prot),   Q5VSN8 (UniProtKB/Swiss-Prot),   Q5VSN7 (UniProtKB/Swiss-Prot),   A8KAI4 (UniProtKB/Swiss-Prot),   Q9UFF5 (UniProtKB/Swiss-Prot),   Q9H2C2 (UniProtKB/Swiss-Prot),   H7C484 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001333921   ⟸   NM_001346992
- Peptide Label: isoform 1
- UniProtKB: H7C0E7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024304970   ⟸   XM_024449202
- Peptide Label: isoform X1
- UniProtKB: H7C0E7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000416039   ⟸   ENST00000450711
Ensembl Acc Id: ENSP00000436763   ⟸   ENST00000480519
Ensembl Acc Id: ENSP00000312458   ⟸   ENST00000310256
Ensembl Acc Id: ENSP00000355618   ⟸   ENST00000366658
Ensembl Acc Id: ENSP00000435420   ⟸   ENST00000459891
Ensembl Acc Id: ENSP00000394547   ⟸   ENST00000435927
RefSeq Acc Id: XP_054194282   ⟸   XM_054338307
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H2C2-F1-model_v2 AlphaFold Q9H2C2 1-271 view protein structure

Promoters
RGD ID:6787124
Promoter ID:HG_KWN:7800
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000366658,   NM_001122835,   NM_024525,   OTTHUMT00000092232,   OTTHUMT00000092233,   OTTHUMT00000092362,   OTTHUMT00000092639,   OTTHUMT00000092641,   OTTHUMT00000092642,   OTTHUMT00000092644,   UC009XFI.1,   UC009XFJ.1,   UC009XFK.1,   UC009XFL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361229,179,996 - 229,181,552 (-)MPROMDB
RGD ID:6859256
Promoter ID:EPDNEW_H2790
Type:initiation region
Name:ARV1_1
Description:ARV1 homolog, fatty acid homeostasis modulator
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
GRCh381230,979,094 - 230,979,154EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29561 AgrOrtholog
COSMIC ARV1 COSMIC
Ensembl Genes ENSG00000173409 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000310256 ENTREZGENE
  ENST00000310256.7 UniProtKB/Swiss-Prot
  ENST00000366658.6 UniProtKB/TrEMBL
  ENST00000435927 ENTREZGENE
  ENST00000435927.5 UniProtKB/TrEMBL
  ENST00000450711.5 UniProtKB/TrEMBL
  ENST00000459891.1 UniProtKB/TrEMBL
GTEx ENSG00000173409 GTEx
HGNC ID HGNC:29561 ENTREZGENE
Human Proteome Map ARV1 Human Proteome Map
InterPro Arv1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:64801 UniProtKB/Swiss-Prot
NCBI Gene 64801 ENTREZGENE
OMIM 611647 OMIM
PANTHER PROTEIN ARV1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR14467 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Arv1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134935092 PharmGKB
PROSITE PROKAR_LIPOPROTEIN UniProtKB/TrEMBL
UniProt A0A0A0MRI7_HUMAN UniProtKB/TrEMBL
  A8KAI4 ENTREZGENE
  ARV1_HUMAN UniProtKB/Swiss-Prot
  H0YEB4_HUMAN UniProtKB/TrEMBL
  H7C0E7 ENTREZGENE, UniProtKB/TrEMBL
  H7C484 ENTREZGENE, UniProtKB/TrEMBL
  Q5VSN7 ENTREZGENE
  Q5VSN8 ENTREZGENE
  Q5VSN9 ENTREZGENE
  Q5VSP0 ENTREZGENE
  Q5VSP2 ENTREZGENE
  Q9H2C2 ENTREZGENE
  Q9H2H2 ENTREZGENE
  Q9H5V6 ENTREZGENE
  Q9UFF5 ENTREZGENE
UniProt Secondary A8KAI4 UniProtKB/Swiss-Prot
  Q5VSN7 UniProtKB/Swiss-Prot
  Q5VSN8 UniProtKB/Swiss-Prot
  Q5VSN9 UniProtKB/Swiss-Prot
  Q5VSP0 UniProtKB/Swiss-Prot
  Q5VSP2 UniProtKB/Swiss-Prot
  Q9H2H2 UniProtKB/Swiss-Prot
  Q9H5V6 UniProtKB/Swiss-Prot
  Q9UFF5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-09-29 ARV1  ARV1 homolog, fatty acid homeostasis modulator    ARV1 homolog, fatty acid homeostatsis modulator  Symbol and/or name change 5135510 APPROVED
2015-07-07 ARV1  ARV1 homolog, fatty acid homeostatsis modulator    ARV1 fatty acid homeostatsis modulator  Symbol and/or name change 5135510 APPROVED
2015-06-23 ARV1  ARV1 fatty acid homeostatsis modulator    ARV1 homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED