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C10ORF113

Chr 10

chromosome 10 open reading frame 113

Also known as: bA165O3.1

NCBI Gene: 387638UniProt: O76041

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.86
LOEUF
—
Mechanism
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/C10ORF113?content-type=application/json

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?
1.86LOEUF
pLI 0.000
Z-score -0.23
OE 1.12 (0.56–1.86)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.81Z-score
OE missense 1.25 (1.06–1.47)
105 obs / 84.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.12 (0.56–1.86)
0≤0.351.4
Missense OE?1.25 (1.06–1.47)
0≤0.61.4
Synonymous OE?0.76
0≤1.21.6
LoF obs/exp: 5 / 4.5Missense obs/exp: 105 / 84.1Syn Z: 1.05

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

C10ORF113 · 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