CCDC181

Chr 1

coiled-coil domain containing 181

Also known as: C1orf114

NCBI Gene: 57821ENSG00000117477UniProt: Q5TID7

Predicted to enable microtubule binding activity. Predicted to be involved in manchette assembly and sperm flagellum assembly. Located in axoneme. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.04
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

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.04LOEUF
pLI 0.000
Z-score 1.39
OE 0.71 (0.49–1.04)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.66Z-score
OE missense 0.88 (0.79–0.99)
225 obs / 254.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.71 (0.49–1.04)
0≤0.351.4
Missense OE?0.88 (0.79–0.99)
0≤0.61.4
Synonymous OE?1.06
0≤1.21.6
LoF obs/exp: 19 / 26.8Missense obs/exp: 225 / 254.7Syn Z: -0.42

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CCDC181 · 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