C10ORF113

Chr 10

chromosome 10 open reading frame 113

Also known as: bA165O3.1

NCBI Gene: 387638UniProt: O76041

The protein binds to actin and assembles the Z-disk, functionally linking sarcomeric actin to desmin intermediate filaments in heart muscle sarcomeres. Mutations cause autosomal recessive cardiomyopathy with features including arrhythmias, heart failure, and sudden cardiac death. The gene shows low constraint against loss-of-function variants, consistent with the recessive inheritance pattern.

Summary from UniProt
Research Assistant →
0
Active trials
0
Pubs (1 yr)
10
P/LP submissions
0%
P/LP missense
1.86
LOEUF
—
Mechanism
Clinical Summary— C10ORF113
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
10 unique Pathogenic / Likely Pathogenic· 6 VUS of 21 total submissions
Explore recent and relevant literature in Research Assistant →
Some data sources returned errors (1)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/C10ORF113?content-type=application/json&expand=1

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 OE1.12 (0.56–1.86)
0≤0.351.4
Missense OE1.25 (1.06–1.47)
0≤0.61.4
Synonymous OE0.76
0≤1.21.6
LoF obs/exp: 5 / 4.5Missense obs/exp: 105 / 84.1Syn Z: 1.05

ClinVar Variant Classifications

21 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic9
Likely Pathogenic1
VUS6
Likely Benign1
Benign3
9
Pathogenic
1
Likely Pathogenic
6
VUS
1
Likely Benign
3
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
9
0
9
Likely Pathogenic
0
0
1
0
1
VUS
0
0
6
0
6
Likely Benign
0
0
1
0
1
Benign
0
0
3
0
3
Total0020020

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in 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