VENTX

Chr 10

VENT homeobox

Also known as: HPX42B, NA88A, VENTX2

NCBI Gene: 27287ENSG00000151650UniProt: O95231

This gene encodes a member of the Vent family of homeodomain proteins. The encoded protein may function as a transcriptional repressor and be involved in mesodermal patterning and hemopoietic stem cell maintenance. Multiple pseudogenes exist for this gene. A transcribed pseudogene located on chromosome X may lead to antigen production in certain melanomas. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.92
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.92LOEUF
pLI 0.000
Z-score -0.72
OE 1.37 (0.71–1.92)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.67Z-score
OE missense 1.15 (1.02–1.30)
180 obs / 156.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.37 (0.71–1.92)
0≤0.351.4
Missense OE?1.15 (1.02–1.30)
0≤0.61.4
Synonymous OE?1.10
0≤1.21.6
LoF obs/exp: 6 / 4.4Missense obs/exp: 180 / 156.4Syn Z: -0.65

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

VENTX · 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