C10ORF71

Chr 10

chromosome 10 open reading frame 71

Also known as: CEFIP, CMD1QQ

NCBI Gene: 118461ENSG00000177354UniProt: Q711Q0

Predicted to be involved in positive regulation of calcineurin-NFAT signaling cascade. Predicted to act upstream of or within cardiac muscle cell contraction; cardiac muscle cell differentiation; and heart morphogenesis. Predicted to be located in cytoplasm. Predicted to be active in Z disc. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCardiomyopathy, dilated, 1QQ
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.80
LOEUF
—
Mechanism
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?
0.80LOEUF
pLI 0.000
Z-score 2.49
OE 0.55 (0.39–0.80)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.69Z-score
OE missense 0.93 (0.88–0.99)
765 obs / 820.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.55 (0.39–0.80)
0≤0.351.4
Missense OE?0.93 (0.88–0.99)
0≤0.61.4
Synonymous OE?0.92
0≤1.21.6
LoF obs/exp: 20 / 36.2Missense obs/exp: 765 / 820.3Syn Z: 1.10

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

C10ORF71 · 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