VSTM4

Chr 10

V-set and transmembrane domain containing 4

Also known as: C10orf72

NCBI Gene: 196740ENSG00000165633UniProt: Q8IW00

Predicted to act upstream of or within several processes, including endothelial cell proliferation; retina blood vessel maintenance; and vasculature development. Predicted to be located in extracellular region and plasma membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.72
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.72LOEUF
pLI 0.034
Z-score 2.34
OE 0.34 (0.18–0.72)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.30Z-score
OE missense 0.94 (0.83–1.06)
174 obs / 185.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.34 (0.18–0.72)
0≤0.351.4
Missense OE?0.94 (0.83–1.06)
0≤0.61.4
Synonymous OE?0.93
0≤1.21.6
LoF obs/exp: 5 / 14.7Missense obs/exp: 174 / 185.3Syn Z: 0.47

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

VSTM4 · 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