Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Experimental Liver Cirrhosis | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:25380136 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Experimental Liver Cirrhosis | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:25380136 | |
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# | Reference Title | Reference Citation |
1. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:12477932 | PMID:12975309 | PMID:14702039 | PMID:15164054 | PMID:15231748 | PMID:15340161 | PMID:15489334 | PMID:15498874 | PMID:16189514 | PMID:17207965 | PMID:20666777 | PMID:21685187 |
PMID:21873635 | PMID:22424883 | PMID:22488247 | PMID:24691993 | PMID:25279955 | PMID:26228159 | PMID:26760575 | PMID:28236118 | PMID:28258694 | PMID:28776578 | PMID:29203588 | PMID:29216931 |
PMID:29720116 | PMID:29737375 | PMID:29771768 | PMID:30106102 | PMID:30128738 | PMID:30220083 | PMID:30306644 | PMID:30382166 | PMID:30635425 | PMID:31088847 | PMID:31363159 | PMID:31484064 |
PMID:31537897 | PMID:31645726 | PMID:31781843 | PMID:31883303 | PMID:31901178 | PMID:31940493 | PMID:31949051 | PMID:32060343 | PMID:32117584 | PMID:32205423 | PMID:32266446 | PMID:32296183 |
PMID:32600443 | PMID:32873829 | PMID:33086339 | PMID:33178206 | PMID:33250890 | PMID:33329552 | PMID:33396515 | PMID:33770210 | PMID:33845483 | PMID:33889438 | PMID:34106206 | PMID:34465822 |
PMID:34660778 | PMID:34728682 | PMID:34752423 | PMID:35056382 | PMID:35187955 | PMID:35521773 | PMID:36042047 | PMID:36450109 | PMID:36849939 | PMID:36862156 | PMID:36944807 | PMID:36968142 |
PMID:37188624 | PMID:37244388 | PMID:37435070 | PMID:37562584 | PMID:37695550 | PMID:37854605 | PMID:37863710 | PMID:37907049 | PMID:38042220 | PMID:38060328 | PMID:38175754 | PMID:38357542 |
VSIR (Homo sapiens - human) |
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Vsir (Mus musculus - house mouse) |
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Vsir (Rattus norvegicus - Norway rat) |
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Vsir (Chinchilla lanigera - long-tailed chinchilla) |
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VSIR (Pan paniscus - bonobo/pygmy chimpanzee) |
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VSIR (Canis lupus familiaris - dog) |
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VSIR (Sus scrofa - pig) |
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VSIR (Chlorocebus sabaeus - green monkey) |
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Vsir (Heterocephalus glaber - naked mole-rat) |
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Variants in VSIR
12 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 10q21.2-22.2(chr10:62229688-74468143)x1 | copy number loss | See cases [RCV000052530] | Chr10:62229688..74468143 [GRCh38] Chr10:63989447..76227901 [GRCh37] Chr10:63659453..75897907 [NCBI36] Chr10:10q21.2-22.2 |
pathogenic |
GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1 | copy number loss | See cases [RCV000052511] | Chr10:58436466..74415216 [GRCh38] Chr10:60196226..76174974 [GRCh37] Chr10:59866232..75844980 [NCBI36] Chr10:10q21.1-22.2 |
pathogenic |
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 | copy number gain | See cases [RCV000134848] | Chr10:42685306..73715908 [GRCh38] Chr10:43180754..75475666 [GRCh37] Chr10:42500760..75145672 [NCBI36] Chr10:10q11.21-22.2 |
pathogenic |
GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3 | copy number gain | See cases [RCV000135438] | Chr10:67196567..79422057 [GRCh38] Chr10:68956325..81181813 [GRCh37] Chr10:68626331..80851819 [NCBI36] Chr10:10q21.3-22.3 |
pathogenic |
GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1 | copy number loss | See cases [RCV000136658] | Chr10:63402579..75296099 [GRCh38] Chr10:65162339..77055857 [GRCh37] Chr10:64832345..76725863 [NCBI36] Chr10:10q21.3-22.2 |
pathogenic|likely benign |
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 | copy number gain | See cases [RCV000138007] | Chr10:50729367..87147204 [GRCh38] Chr10:52489127..88906961 [GRCh37] Chr10:52159133..88896941 [NCBI36] Chr10:10q11.23-23.2 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 | copy number gain | See cases [RCV000448750] | Chr10:93297..135378918 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) | copy number gain | See cases [RCV000511389] | Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic|uncertain significance |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 | copy number gain | See cases [RCV000510861] | Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 | copy number loss | Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] | Chr10:42347406..135534747 [GRCh37] Chr10:10q11.21-26.3 |
drug response |
GRCh37/hg19 10q22.1(chr10:73321268-73554051)x1 | copy number loss | not provided [RCV000683208] | Chr10:73321268..73554051 [GRCh37] Chr10:10q22.1 |
uncertain significance |
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3 | copy number gain | not provided [RCV000683289] | Chr10:69040366..93194993 [GRCh37] Chr10:10q21.3-23.32 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 | copy number gain | not provided [RCV000749464] | Chr10:73232..135524321 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 | copy number gain | not provided [RCV000749465] | Chr10:98087..135477883 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
NM_022153.2(VSIR):c.20T>C (p.Leu7Pro) | single nucleotide variant | Retinitis pigmentosa-deafness syndrome [RCV000988382] | Chr10:71773420 [GRCh38] Chr10:73533177 [GRCh37] Chr10:10q22.1 |
benign |
NM_022153.2(VSIR):c.561T>G (p.Asp187Glu) | single nucleotide variant | Retinitis pigmentosa-deafness syndrome [RCV000988381] | Chr10:71760875 [GRCh38] Chr10:73520632 [GRCh37] Chr10:10q22.1 |
benign |
NM_022153.2(VSIR):c.694C>T (p.Arg232Trp) | single nucleotide variant | See cases [RCV001197989] | Chr10:71752985 [GRCh38] Chr10:73512742 [GRCh37] Chr10:10q22.1 |
uncertain significance |
GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714) | copy number loss | not specified [RCV002052875] | Chr10:68735254..78885714 [GRCh37] Chr10:10q21.3-22.3 |
pathogenic |
NC_000010.10:g.(?_73381150)_(73553170_?)del | deletion | not provided [RCV001963106] | Chr10:73381150..73553170 [GRCh37] Chr10:10q22.1 |
pathogenic |
NC_000010.10:g.(?_73490206)_(73768229_?)dup | duplication | not provided [RCV001955739] | Chr10:73490206..73768229 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022153.2(VSIR):c.839C>T (p.Ser280Leu) | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 12 [RCV002496182]|not provided [RCV003418418]|not specified [RCV002247932] | Chr10:71751727 [GRCh38] Chr10:73511484 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NC_000010.10:g.(?_73499381)_(73862745_?)dup | duplication | Sphingolipid activator protein 1 deficiency [RCV003113123] | Chr10:73499381..73862745 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NC_000010.10:g.(?_73464648)_(73768229_?)dup | duplication | not provided [RCV003111464] | Chr10:73464648..73768229 [GRCh37] Chr10:10q22.1 |
uncertain significance |
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) | copy number gain | Distal trisomy 10q [RCV003319593] | Chr10:11138692..135427143 [GRCh37] Chr10:10p14-q26.3 |
pathogenic |
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) | copy number loss | Distal 10q deletion syndrome [RCV003319583] | Chr10:12829206..135427143 [GRCh37] Chr10:10p13-q26.3 |
pathogenic |
GRCh37/hg19 10q22.1(chr10:73321269-74612651)x1 | copy number loss | not provided [RCV003483098] | Chr10:73321269..74612651 [GRCh37] Chr10:10q22.1 |
uncertain significance |
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 | copy number gain | not provided [RCV003484798] | Chr10:42709645..100834951 [GRCh37] Chr10:10q11.21-24.2 |
pathogenic |
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. |
PMC55343P6 |
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STS-W72919 |
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STS-R80211 |
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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 | 247 | 247 | ||||||||||||||||
Medium | 2319 | 2588 | 1140 | 256 | 1495 | 107 | 3395 | 1357 | 2732 | 256 | 1193 | 1480 | 165 | 1 | 1204 | 2084 | 5 | 2 |
Low | 109 | 156 | 581 | 366 | 147 | 356 | 767 | 818 | 969 | 160 | 256 | 82 | 10 | 704 | 1 | |||
Below cutoff | 8 | 2 | 1 | 42 | 1 | 176 | 17 | 15 | 2 | 8 | 39 |
RefSeq Transcripts | NG_008835 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_022153 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB073653 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF193048 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF289594 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK024449 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL731541 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY265805 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY358379 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC020568 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC111048 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC127257 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471083 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068268 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EF506490 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000394957 ⟹ ENSP00000378409 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000470317 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000481568 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_022153 ⟹ NP_071436 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_071436 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAG22476 | (Get FASTA) | NCBI Sequence Viewer |
AAH20568 | (Get FASTA) | NCBI Sequence Viewer | |
AAI11049 | (Get FASTA) | NCBI Sequence Viewer | |
AAI27258 | (Get FASTA) | NCBI Sequence Viewer | |
AAL55778 | (Get FASTA) | NCBI Sequence Viewer | |
AAP03084 | (Get FASTA) | NCBI Sequence Viewer | |
AAQ88745 | (Get FASTA) | NCBI Sequence Viewer | |
ABP88253 | (Get FASTA) | NCBI Sequence Viewer | |
BAB15739 | (Get FASTA) | NCBI Sequence Viewer | |
EAW54435 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000378409 | ||
ENSP00000378409.3 | |||
GenBank Protein | Q9H7M9 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_071436 ⟸ NM_022153 |
- Peptide Label: | precursor |
- UniProtKB: | Q8WUG3 (UniProtKB/Swiss-Prot), Q6UXF3 (UniProtKB/Swiss-Prot), A8MVH5 (UniProtKB/Swiss-Prot), A4ZYV1 (UniProtKB/Swiss-Prot), A1L0X9 (UniProtKB/Swiss-Prot), Q8WYZ8 (UniProtKB/Swiss-Prot), Q9H7M9 (UniProtKB/Swiss-Prot), Q2TA85 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000378409 ⟸ ENST00000394957 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9H7M9-F1-model_v2 | AlphaFold | Q9H7M9 | 1-311 | view protein structure |
RGD ID: | 7217791 | ||||||||
Promoter ID: | EPDNEW_H14641 | ||||||||
Type: | initiation region | ||||||||
Name: | VSIR_1 | ||||||||
Description: | V-set immunoregulatory receptor | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 6787415 | ||||||||
Promoter ID: | HG_KWN:9961 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell | ||||||||
Transcripts: | OTTHUMT00000048550 | ||||||||
Position: |
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RGD ID: | 6787414 | ||||||||
Promoter ID: | HG_KWN:9962 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_2Hour | ||||||||
Transcripts: | OTTHUMT00000048549 | ||||||||
Position: |
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RGD ID: | 6787555 | ||||||||
Promoter ID: | HG_KWN:9963 | ||||||||
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: | ENST00000394957, ENST00000394960, NM_022153, UC001JSE.1, UC001JSF.1, UC009XQM.1 | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:30085 | AgrOrtholog |
COSMIC | VSIR | COSMIC |
Ensembl Genes | ENSG00000107738 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000394957 | ENTREZGENE |
ENST00000394957.8 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 2.60.40.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000107738 | GTEx |
HGNC ID | HGNC:30085 | ENTREZGENE |
Human Proteome Map | VSIR | Human Proteome Map |
InterPro | Ig-like_dom | UniProtKB/Swiss-Prot |
Ig-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig-like_fold | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig_sub | UniProtKB/Swiss-Prot | |
Ig_V-set | UniProtKB/Swiss-Prot | |
VISTA | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:64115 | UniProtKB/Swiss-Prot |
NCBI Gene | 64115 | ENTREZGENE |
OMIM | 615608 | OMIM |
PANTHER | PTHR44819 | UniProtKB/Swiss-Prot |
V-TYPE IMMUNOGLOBULIN DOMAIN-CONTAINING SUPPRESSOR OF T-CELL ACTIVATION | UniProtKB/Swiss-Prot | |
V-TYPE IMMUNOGLOBULIN DOMAIN-CONTAINING SUPPRESSOR OF T-CELL ACTIVATION | UniProtKB/TrEMBL | |
V-TYPE IMMUNOGLOBULIN DOMAIN-CONTAINING SUPPRESSOR OF T-CELL ACTIVATION | UniProtKB/TrEMBL | |
Pfam | V-set | UniProtKB/Swiss-Prot |
PharmGKB | PA142672307 | PharmGKB |
PROSITE | IG_LIKE | UniProtKB/Swiss-Prot |
SMART | SM00409 | UniProtKB/Swiss-Prot |
Superfamily-SCOP | Immunoglobulin | UniProtKB/TrEMBL, UniProtKB/Swiss-Prot |
UniProt | A1L0X9 | ENTREZGENE |
A4ZYV1 | ENTREZGENE | |
A8MVH5 | ENTREZGENE | |
Q2TA85 | ENTREZGENE, UniProtKB/TrEMBL | |
Q6UXF3 | ENTREZGENE | |
Q8WUG3 | ENTREZGENE | |
Q8WYZ8 | ENTREZGENE | |
Q9H7M9 | ENTREZGENE, UniProtKB/Swiss-Prot | |
UniProt Secondary | A1L0X9 | UniProtKB/Swiss-Prot |
A4ZYV1 | UniProtKB/Swiss-Prot | |
A8MVH5 | UniProtKB/Swiss-Prot | |
Q6UXF3 | UniProtKB/Swiss-Prot | |
Q8WUG3 | UniProtKB/Swiss-Prot | |
Q8WYZ8 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-11-29 | VSIR | V-set immunoregulatory receptor | C10orf54 | chromosome 10 open reading frame 54 | Symbol and/or name change | 5135510 | APPROVED |