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
Description: Predicted to have sterol transporter activity. Involved in regulation of cholesterol metabolic process and regulation of intracellular cholesterol transport. Localizes to endoplasmic reticulum membrane. Implicated in developmental and epileptic encephalopathy 38.
Type: protein-coding
RefSeq Status: REVIEWED
Also 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 Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1230,978,981 - 231,000,733 (+)EnsemblGRCh38hg38GRCh38
GRCh381230,979,082 - 231,000,733 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371231,114,840 - 231,136,479 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361229,181,446 - 229,203,102 (+)NCBINCBI36hg18NCBI36
Build 341227,421,557 - 227,443,212NCBI
Celera1204,380,771 - 204,402,432 (+)NCBI
Cytogenetic Map1q42.2NCBI
HuRef1201,599,541 - 201,621,202 (+)NCBIHuRef
CHM1_11232,388,113 - 232,409,767 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

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  


Genomics

Comparative Map Data
ARV1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1230,978,981 - 231,000,733 (+)EnsemblGRCh38hg38GRCh38
GRCh381230,979,082 - 231,000,733 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371231,114,840 - 231,136,479 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361229,181,446 - 229,203,102 (+)NCBINCBI36hg18NCBI36
Build 341227,421,557 - 227,443,212NCBI
Celera1204,380,771 - 204,402,432 (+)NCBI
Cytogenetic Map1q42.2NCBI
HuRef1201,599,541 - 201,621,202 (+)NCBIHuRef
CHM1_11232,388,113 - 232,409,767 (+)NCBICHM1_1
Arv1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398125,448,765 - 125,469,533 (+)NCBIGRCm39mm39
GRCm39 Ensembl8125,448,878 - 125,460,862 (+)Ensembl
GRCm388124,722,026 - 124,742,794 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8124,722,139 - 124,734,123 (+)EnsemblGRCm38mm10GRCm38
MGSCv378127,246,039 - 127,258,023 (+)NCBIGRCm37mm9NCBIm37
MGSCv368127,608,229 - 127,620,213 (+)NCBImm8
Celera8129,027,282 - 129,042,285 (+)NCBICelera
Cytogenetic Map8E2NCBI
Arv1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21952,692,337 - 52,704,156 (+)NCBI
Rnor_6.0 Ensembl1957,484,634 - 57,496,695 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01957,484,720 - 57,496,539 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01968,189,521 - 68,201,340 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41954,904,721 - 54,916,541 (+)NCBIRGSC3.4rn4RGSC3.4
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
PanPan1.11211,554,553 - 211,576,484 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1211,554,553 - 211,576,484 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01206,527,777 - 206,549,606 (+)NCBIMhudiblu_PPA_v0panPan3
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 (-)NCBI
ROS_Cfam_1.048,433,785 - 8,449,987 (-)NCBI
UMICH_Zoey_3.148,437,946 - 8,453,484 (-)NCBI
UNSW_CanFamBas_1.048,559,958 - 8,575,500 (-)NCBI
UU_Cfam_GSD_1.048,790,025 - 8,805,558 (-)NCBI
Arv1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_ltri_2NW_02440934443,386,058 - 43,396,908 (-)NCBI
SpeTri2.0NW_00493648419,551,293 - 19,562,132 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ARV1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1459,396,961 - 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 - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12568,251,110 - 68,271,530 (+)NCBI
ChlSab1.1 Ensembl2568,251,130 - 68,271,607 (+)Ensembl
Arv1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462477518,634,671 - 18,652,476 (-)NCBI

Position Markers
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

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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2302 1735 1498 426 1121 269 3517 1236 3303 362 1374 1438 172 1 878 2101 3 2
Low 137 1219 228 198 793 196 840 961 431 57 86 175 2 326 687 3
Below cutoff 37 37

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000310256   ⟹   ENSP00000312458
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1230,979,094 - 231,000,733 (+)Ensembl
RefSeq Acc Id: ENST00000366658   ⟹   ENSP00000355618
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1230,979,094 - 231,000,595 (+)Ensembl
RefSeq Acc Id: ENST00000435927   ⟹   ENSP00000394547
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1230,979,146 - 230,997,267 (+)Ensembl
RefSeq Acc Id: ENST00000450711   ⟹   ENSP00000416039
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1230,979,116 - 230,999,803 (+)Ensembl
RefSeq Acc Id: ENST00000459891   ⟹   ENSP00000435420
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1230,995,760 - 231,000,595 (+)Ensembl
RefSeq Acc Id: ENST00000480519   ⟹   ENSP00000436763
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1230,979,111 - 230,999,867 (+)Ensembl
RefSeq Acc Id: ENST00000497753
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 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
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
Sequence:
RefSeq Acc Id: NR_144538
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381230,979,094 - 231,000,733 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449202   ⟹   XP_024304970
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381230,979,082 - 231,000,595 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002957381
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381230,979,082 - 231,000,595 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_073623   ⟸   NM_022786
- Peptide Label: isoform 2
- UniProtKB: Q9H2C2 (UniProtKB/Swiss-Prot),   A0A024R3V6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001333921   ⟸   NM_001346992
- Peptide Label: isoform 1
- UniProtKB: Q9H2C2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024304970   ⟸   XM_024449202
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000416039   ⟸   ENST00000450711
RefSeq Acc Id: ENSP00000436763   ⟸   ENST00000480519
RefSeq Acc Id: ENSP00000312458   ⟸   ENST00000310256
RefSeq Acc Id: ENSP00000355618   ⟸   ENST00000366658
RefSeq Acc Id: ENSP00000435420   ⟸   ENST00000459891
RefSeq Acc Id: ENSP00000394547   ⟸   ENST00000435927

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

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 Blindness [RCV000162175]|Epileptic encephalopathy, early infantile, 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 condition [RCV000234848]|Epileptic encephalopathy, early infantile, 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 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.674-2A>T single nucleotide variant Epileptic encephalopathy, early infantile, 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.64A>T (p.Thr22Ser) single nucleotide variant not provided [RCV000958554] Chr1:230979169 [GRCh38]
Chr1:231114915 [GRCh37]
Chr1:1q42.2
benign|conflicting interpretations of pathogenicity
NM_022786.3(ARV1):c.528C>T (p.Phe176=) single nucleotide variant not provided [RCV000918785] Chr1:230995839 [GRCh38]
Chr1:231131585 [GRCh37]
Chr1:1q42.2
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 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 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 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 not provided [RCV001040844] Chr1:230995820..230995821 [GRCh38]
Chr1:231131566..231131567 [GRCh37]
Chr1:1q42.2
pathogenic
NM_022786.3(ARV1):c.363_364del (p.Ser122fs) deletion Epileptic encephalopathy, early infantile, 38 [RCV001262173] Chr1:230990178..230990179 [GRCh38]
Chr1:231125924..231125925 [GRCh37]
Chr1:1q42.2
likely pathogenic
NM_022786.3(ARV1):c.292_294+1del deletion Epileptic encephalopathy, early infantile, 38 [RCV001262616] Chr1:230988437..230988440 [GRCh38]
Chr1:231124183..231124186 [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

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 Protein ENSP00000312458 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000355618 UniProtKB/TrEMBL
  ENSP00000394547 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000416039 UniProtKB/TrEMBL
  ENSP00000435420 UniProtKB/TrEMBL
  ENSP00000436763 UniProtKB/TrEMBL
Ensembl Transcript ENST00000310256 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000366658 UniProtKB/TrEMBL
  ENST00000435927 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000450711 UniProtKB/TrEMBL
  ENST00000459891 UniProtKB/TrEMBL
  ENST00000480519 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, UniProtKB/TrEMBL
NCBI Gene 64801 ENTREZGENE
OMIM 611647 OMIM
  617020 OMIM
PANTHER PTHR14467 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Arv1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134935092 PharmGKB
UniProt A0A024R3V6 ENTREZGENE, UniProtKB/TrEMBL
  A0A0A0MRI7_HUMAN UniProtKB/TrEMBL
  ARV1_HUMAN UniProtKB/Swiss-Prot
  F6QB42_HUMAN UniProtKB/TrEMBL
  H0YEB4_HUMAN UniProtKB/TrEMBL
  H7C0E7_HUMAN UniProtKB/TrEMBL
  H7C484_HUMAN UniProtKB/TrEMBL
  Q9H2C2 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