VSTM2A (V-set and transmembrane domain containing 2A) - Rat Genome Database
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Gene: VSTM2A (V-set and transmembrane domain containing 2A) Homo sapiens
Analyze
Symbol: VSTM2A
Name: V-set and transmembrane domain containing 2A
RGD ID: 1604199
HGNC Page HGNC
Description: Predicted to have identical protein binding activity. Involved in several processes, including positive regulation of brown fat cell differentiation; positive regulation of lipid storage; and positive regulation of white fat cell proliferation. Predicted to localize to extracellular region; INTERACTS WITH 4,4'-sulfonyldiphenol; aflatoxin B1; all-trans-retinoic acid.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: hypothetical protein MGC33530; MGC33530; V-set and transmembrane domain containing 2; V-set and transmembrane domain-containing protein 2A; VSTM2
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 Ensembl754,542,325 - 54,571,080 (+)EnsemblGRCh38hg38GRCh38
GRCh38754,542,064 - 54,571,072 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37754,610,068 - 54,638,760 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36754,577,513 - 54,604,442 (+)NCBINCBI36hg18NCBI36
Celera754,714,731 - 54,741,659 (+)NCBI
Cytogenetic Map7p11.2NCBI
HuRef754,447,719 - 54,473,944 (+)NCBIHuRef
CHM1_1754,612,542 - 54,641,261 (+)NCBICHM1_1
CRA_TCAGchr7v2754,615,835 - 54,642,765 (+)NCBI
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:12107411   PMID:12477932   PMID:12690205   PMID:15489334   PMID:17207965   PMID:21873635   PMID:24412244   PMID:26186194   PMID:28052263   PMID:28298427   PMID:28514442   PMID:30285995  
PMID:31588233  


Genomics

Comparative Map Data
VSTM2A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl754,542,325 - 54,571,080 (+)EnsemblGRCh38hg38GRCh38
GRCh38754,542,064 - 54,571,072 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37754,610,068 - 54,638,760 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36754,577,513 - 54,604,442 (+)NCBINCBI36hg18NCBI36
Celera754,714,731 - 54,741,659 (+)NCBI
Cytogenetic Map7p11.2NCBI
HuRef754,447,719 - 54,473,944 (+)NCBIHuRef
CHM1_1754,612,542 - 54,641,261 (+)NCBICHM1_1
CRA_TCAGchr7v2754,615,835 - 54,642,765 (+)NCBI
Vstm2a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391116,207,742 - 16,234,551 (+)NCBIGRCm39mm39
GRCm39 Ensembl1116,207,724 - 16,377,310 (+)Ensembl
GRCm381116,257,742 - 16,284,551 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1116,257,724 - 16,427,310 (+)EnsemblGRCm38mm10GRCm38
MGSCv371116,157,727 - 16,184,554 (+)NCBIGRCm37mm9NCBIm37
MGSCv361116,157,775 - 16,184,189 (+)NCBImm8
Celera1116,651,091 - 16,678,297 (+)NCBICelera
Cytogenetic Map11A2NCBI
Vstm2a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21490,660,012 - 90,897,561 (+)NCBI
Rnor_6.0 Ensembl1499,529,284 - 99,554,479 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01499,528,996 - 99,558,304 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01499,292,180 - 99,317,627 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41497,074,759 - 97,100,169 (+)NCBIRGSC3.4rn4RGSC3.4
Celera1489,755,785 - 89,785,082 (+)NCBICelera
Cytogenetic Map14q22NCBI
Vstm2a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955456767,303 - 794,635 (-)NCBIChiLan1.0ChiLan1.0
VSTM2A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1755,447,878 - 55,477,148 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl755,447,878 - 55,477,148 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0755,136,669 - 55,168,379 (+)NCBIMhudiblu_PPA_v0panPan3
VSTM2A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl185,345,261 - 5,371,332 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1185,344,966 - 5,373,486 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Vstm2a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004936678932,663 - 970,905 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
VSTM2A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl9138,990,480 - 139,019,107 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.19138,990,480 - 139,017,965 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29153,209,795 - 153,236,793 (+)NCBISscrofa10.2Sscrofa10.2susScr3
VSTM2A
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1214,300,584 - 4,330,607 (-)NCBI
ChlSab1.1 Ensembl214,298,700 - 4,330,543 (-)Ensembl
Vstm2a
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624740997,516 - 1,023,489 (-)NCBI

Position Markers
WI-15640  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37754,618,016 - 54,618,121UniSTSGRCh37
Build 36754,585,510 - 54,585,615RGDNCBI36
Celera754,722,728 - 54,722,833RGD
Cytogenetic Map7p11.2UniSTS
HuRef754,455,054 - 54,455,159UniSTS
CRA_TCAGchr7v2754,623,832 - 54,623,937UniSTS
GeneMap99-GB4 RH Map7249.98UniSTS
Whitehead-RH Map7222.6UniSTS
NCBI RH Map7758.0UniSTS
D7S2151E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37754,637,393 - 54,637,581UniSTSGRCh37
Build 36754,604,887 - 54,605,075RGDNCBI36
Celera754,742,104 - 54,742,292RGD
HuRef754,474,389 - 54,474,577UniSTS
CRA_TCAGchr7v2754,643,210 - 54,643,398UniSTS
SHGC-146677  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37754,622,852 - 54,623,198UniSTSGRCh37
Build 36754,590,346 - 54,590,692RGDNCBI36
Celera754,727,562 - 54,727,908RGD
Cytogenetic Map7p11.2UniSTS
HuRef754,459,888 - 54,460,234UniSTS
CRA_TCAGchr7v2754,628,668 - 54,629,014UniSTS
TNG Radiation Hybrid Map726309.0UniSTS
RH47359  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37754,638,022 - 54,638,159UniSTSGRCh37
Build 36754,605,516 - 54,605,653RGDNCBI36
Celera754,742,733 - 54,742,870RGD
Cytogenetic Map7p11.2UniSTS
HuRef754,475,018 - 54,475,155UniSTS
CRA_TCAGchr7v2754,643,839 - 54,643,976UniSTS
GeneMap99-GB4 RH Map7249.98UniSTS
NCBI RH Map7756.1UniSTS
SGC34528  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37754,638,067 - 54,638,218UniSTSGRCh37
Build 36754,605,561 - 54,605,712RGDNCBI36
Celera754,742,778 - 54,742,929RGD
Cytogenetic Map7p11.2UniSTS
HuRef754,475,063 - 54,475,214UniSTS
CRA_TCAGchr7v2754,643,884 - 54,644,035UniSTS
GeneMap99-GB4 RH Map7249.98UniSTS
Whitehead-RH Map7223.8UniSTS
NCBI RH Map7756.1UniSTS
D7S2824  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37754,638,508 - 54,638,757UniSTSGRCh37
Build 36754,606,002 - 54,606,251RGDNCBI36
Celera754,743,219 - 54,743,468RGD
Cytogenetic Map7p11.2UniSTS
HuRef754,475,504 - 54,475,753UniSTS
CRA_TCAGchr7v2754,644,325 - 54,644,574UniSTS
GeneMap99-GB4 RH Map7250.19UniSTS
Whitehead-RH Map7222.1UniSTS
Whitehead-YAC Contig Map7 UniSTS
NCBI RH Map7759.0UniSTS
MARC_11447-11448:1000476280:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37754,636,581 - 54,636,932UniSTSGRCh37
Build 36754,604,075 - 54,604,426RGDNCBI36
Celera754,741,292 - 54,741,643RGD
HuRef754,473,577 - 54,473,928UniSTS
CRA_TCAGchr7v2754,642,398 - 54,642,749UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3360
Count of miRNA genes:936
Interacting mature miRNAs:1124
Transcripts:ENST00000302287, ENST00000402026, ENST00000402613, ENST00000404951, ENST00000407838, ENST00000466888, ENST00000469952, ENST00000495904, ENST00000498834
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.


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
High
Medium 8 6 1 1 910 11 16 7
Low 588 17 184 1 37 2 190 16 1458 40 308 119 2 1 5 143
Below cutoff 1530 1248 927 159 448 68 2438 1313 1227 92 594 754 93 547 1539

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001301009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001317843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_182546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_133927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB074160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC069313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI340204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC045679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI458531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI553644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI667944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI752069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI754879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI755592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI758069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ639021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX451729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS596860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS596862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN991717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN991972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EY892386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  R40993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000302287   ⟹   ENSP00000303108
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl754,542,325 - 54,552,531 (+)Ensembl
RefSeq Acc Id: ENST00000402613   ⟹   ENSP00000384103
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl754,542,605 - 54,569,446 (+)Ensembl
RefSeq Acc Id: ENST00000404951   ⟹   ENSP00000384701
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl754,542,416 - 54,570,495 (+)Ensembl
RefSeq Acc Id: ENST00000407838   ⟹   ENSP00000384967
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl754,542,325 - 54,571,080 (+)Ensembl
RefSeq Acc Id: ENST00000466888
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl754,546,672 - 54,569,287 (+)Ensembl
RefSeq Acc Id: ENST00000469952
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl754,546,993 - 54,550,919 (+)Ensembl
RefSeq Acc Id: ENST00000495904
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl754,542,326 - 54,547,160 (+)Ensembl
RefSeq Acc Id: ENST00000498834
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl754,546,161 - 54,569,489 (+)Ensembl
RefSeq Acc Id: NM_001301009   ⟹   NP_001287938
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38754,542,375 - 54,571,067 (+)NCBI
CHM1_1754,612,542 - 54,641,261 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001317843   ⟹   NP_001304772
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38754,542,375 - 54,552,535 (+)NCBI
CHM1_1754,612,542 - 54,622,745 (+)NCBI
Sequence:
RefSeq Acc Id: NM_182546   ⟹   NP_872352
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38754,542,375 - 54,571,067 (+)NCBI
GRCh37754,610,019 - 54,636,948 (+)RGD
Build 36754,577,513 - 54,604,442 (+)NCBI Archive
Celera754,714,731 - 54,741,659 (+)RGD
HuRef754,447,719 - 54,473,944 (+)RGD
CHM1_1754,612,542 - 54,641,261 (+)NCBI
CRA_TCAGchr7v2754,615,835 - 54,642,765 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NR_133927
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38754,546,161 - 54,571,067 (+)NCBI
CHM1_1754,616,383 - 54,641,261 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006715665   ⟹   XP_006715728
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38754,542,064 - 54,568,864 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006715666   ⟹   XP_006715729
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38754,542,064 - 54,571,072 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017011841   ⟹   XP_016867330
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38754,542,064 - 54,561,810 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_872352   ⟸   NM_182546
- Peptide Label: isoform 1 precursor
- UniProtKB: Q8TAG5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006715729   ⟸   XM_006715666
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_006715728   ⟸   XM_006715665
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001287938   ⟸   NM_001301009
- Peptide Label: isoform 2 precursor
- UniProtKB: F8W8J5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001304772   ⟸   NM_001317843
- Peptide Label: isoform 3 precursor
- UniProtKB: Q8TAG5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016867330   ⟸   XM_017011841
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000384103   ⟸   ENST00000402613
RefSeq Acc Id: ENSP00000384701   ⟸   ENST00000404951
RefSeq Acc Id: ENSP00000384967   ⟸   ENST00000407838
RefSeq Acc Id: ENSP00000303108   ⟸   ENST00000302287
Protein Domains
Ig-like   Ig-like V-type

Promoters
RGD ID:7210613
Promoter ID:EPDNEW_H11052
Type:initiation region
Name:VSTM2A_1
Description:V-set and transmembrane domain containing 2A
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
GRCh38754,542,408 - 54,542,468EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p12.1-11.2(chr7:52114454-57434735)x1 copy number loss See cases [RCV000052656] Chr7:52114454..57434735 [GRCh38]
Chr7:52182150..57493216 [GRCh37]
Chr7:52149644..57498383 [NCBI36]
Chr7:7p12.1-11.2
uncertain significance
GRCh38/hg38 7p12.1-11.2(chr7:52192528-57823293)x3 copy number gain See cases [RCV000053439] Chr7:52192528..57823293 [GRCh38]
Chr7:52260224..57882999 [GRCh37]
Chr7:52227718..57886941 [NCBI36]
Chr7:7p12.1-11.2
uncertain significance
GRCh38/hg38 7p12.1-11.2(chr7:53450330-56107195)x3 copy number gain See cases [RCV000053440] Chr7:53450330..56107195 [GRCh38]
Chr7:53518023..56174888 [GRCh37]
Chr7:53485517..56142382 [NCBI36]
Chr7:7p12.1-11.2
uncertain significance
GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3 copy number gain See cases [RCV000053532] Chr7:33328312..62377476 [GRCh38]
Chr7:33367924..61831899 [GRCh37]
Chr7:33334449..61469334 [NCBI36]
Chr7:7p14.3-q11.21
pathogenic
GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3 copy number gain See cases [RCV000053534] Chr7:53274059..68576213 [GRCh38]
Chr7:53341752..68041200 [GRCh37]
Chr7:53309246..67679136 [NCBI36]
Chr7:7p12.1-q11.22
pathogenic
NM_182546.3(VSTM2A):c.634+3726C>T single nucleotide variant Malignant melanoma [RCV000067911] Chr7:54553896 [GRCh38]
Chr7:54621589 [GRCh37]
Chr7:54589083 [NCBI36]
Chr7:7p11.2
not provided
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1 copy number loss See cases [RCV000136092] Chr7:40534157..56107122 [GRCh38]
Chr7:40573756..56174815 [GRCh37]
Chr7:40540281..56142309 [NCBI36]
Chr7:7p14.1-11.2
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Speech-language disorder 1 [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754332] Chr7:52551984..56315037 [GRCh38]
Chr7:7p12.1-11.2
likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p12.1-11.1(chr7:52809787-58025873)x1 copy number loss not provided [RCV000846150] Chr7:52809787..58025873 [GRCh37]
Chr7:7p12.1-11.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28499 AgrOrtholog
COSMIC VSTM2A COSMIC
Ensembl Genes ENSG00000170419 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000303108 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000384103 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000384701 UniProtKB/TrEMBL
  ENSP00000384967 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000302287 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000402613 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000404951 UniProtKB/TrEMBL
  ENST00000407838 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000170419 GTEx
HGNC ID HGNC:28499 ENTREZGENE
Human Proteome Map VSTM2A Human Proteome Map
InterPro Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_V-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:222008 UniProtKB/Swiss-Prot
NCBI Gene 222008 ENTREZGENE
Pfam V-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162408875 PharmGKB
PROSITE IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00409 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B5MCX6_HUMAN UniProtKB/TrEMBL
  F8W8J5 ENTREZGENE, UniProtKB/TrEMBL
  Q8TAG5 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A4D2E9 UniProtKB/Swiss-Prot
  B5MC94 UniProtKB/Swiss-Prot