VCX3A

Chr X

variable charge X-linked 3A

Also known as: VCX-8r, VCX-A, VCX3, VCX8R, VCXA

This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22 and Y-linked members are two identical copies of the gene within a palindromic region on Yq11. The family members share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. VCX/Y genes encode small and highly charged proteins of unknown function. The presence of a putative bipartite nuclear localization signal suggests that VCX/Y members are nuclear proteins. This gene contains 8 repeats of the 30-bp unit. [provided by RefSeq, Jul 2008]

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
1
Pubs (1 yr)
P/LP submissions
P/LP missense
1.87
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.87LOEUF
pLI 0.310
Z-score 0.48
OE 0.00 (0.001.87)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-2.14Z-score
OE missense 1.89 (1.561.98)
86 obs / 45.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.00 (0.001.87)
00.351.4
Missense OE?1.89 (1.561.98)
00.61.4
Synonymous OE?1.79
01.21.6
LoF obs/exp: 0 / 0.3Missense obs/exp: 86 / 45.4Syn Z: -3.02

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

VCX3A · 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

No active trials found for this gene.

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