VSIG1

Chr X

V-set and immunoglobulin domain containing 1

Also known as: 1700062D20Rik, GPA34, dJ889N15.1

NCBI Gene: 340547ENSG00000101842UniProt: Q86XK7OMIM: 300620

This gene encodes a member of the junctional adhesion molecule (JAM) family. The encoded protein contains multiple glycosylation sites at the N-terminal region, and multiple phosphorylation sites and glutamic acid/proline (EP) repeats at the C-terminal region. The gene is expressed in normal stomach and testis, as well as in gastric, esophageal and ovarian cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

OMIMResearchGenerating clinical summary…
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.98
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.98LOEUF
pLI 0.002
Z-score 1.62
OE 0.50 (0.27–0.98)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.46Z-score
OE missense 0.90 (0.79–1.03)
152 obs / 168.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.50 (0.27–0.98)
0≤0.351.4
Missense OE?0.90 (0.79–1.03)
0≤0.61.4
Synonymous OE?1.07
0≤1.21.6
LoF obs/exp: 6 / 12.1Missense obs/exp: 152 / 168.6Syn Z: -0.44

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

VSIG1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients