VSIG10

V-set and immunoglobulin domain containing 10, the group of V-set domain containing|I-set domain containing

Basic information

Region (hg38): 12:118063593-118136026

Links

ENSG00000176834NCBI:54621HGNC:26078Uniprot:Q8N0Z9AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the VSIG10 gene.

  • not_specified (67 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the VSIG10 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000019086.6. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
0
missense
62
clinvar
5
clinvar
67
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 62 5 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
VSIG10protein_codingprotein_codingENST00000359236 972434
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.000003480.9881245751791246550.000321
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.5832662940.9040.00001553497
Missense in Polyphen5471.5130.75511858
Synonymous-0.3721281231.040.000007201074
Loss of Function2.271325.30.5140.00000124279

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0004450.000439
Ashkenazi Jewish0.000.00
East Asian0.0001110.000111
Finnish0.00004650.0000464
European (Non-Finnish)0.0001530.000150
Middle Eastern0.0001110.000111
South Asian0.001600.00157
Other0.0005010.000495

dbNSFP

Source: dbNSFP

Intolerance Scores

loftool
rvis_EVS
0.42
rvis_percentile_EVS
77.23

Haploinsufficiency Scores

pHI
hipred
N
hipred_score
0.123
ghis
0.469

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.114

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyHighMediumHigh
CancerHighHighHigh

Mouse Genome Informatics

Gene name
Vsig10
Phenotype

Gene ontology

Biological process
Cellular component
integral component of membrane
Molecular function