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C10ORF131

Chr 10

chromosome 10 open reading frame 131

Also known as: bA690P14.3

NCBI Gene: 100127889UniProt: Q6DHV5

ResearchGenerating clinical summary…
0
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.77
LOEUF
—
Mechanism
Some data sources returned errors (1)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/C10ORF131?content-type=application/json

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.77LOEUF
pLI 0.000
Z-score -0.16
OE 1.06 (0.62–1.77)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.42Z-score
OE missense 0.86 (0.70–1.06)
64 obs / 74.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.06 (0.62–1.77)
0≤0.351.4
Missense OE?0.86 (0.70–1.06)
0≤0.61.4
Synonymous OE?0.38
0≤1.21.6
LoF obs/exp: 8 / 7.5Missense obs/exp: 64 / 74.1Syn Z: 2.38

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

C10ORF131 · 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