CEP76

Chr 18

centrosomal protein 76

Also known as: C18orf9, HsT1705

NCBI Gene: 79959ENSG00000101624UniProt: Q8TAP6

This gene encodes a centrosomal protein which regulates centriole amplification by limiting centriole duplication to once per cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.76
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?
0.76LOEUF
pLI 0.000
Z-score 2.75
OE 0.52 (0.37–0.76)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.75Z-score
OE missense 0.74 (0.67–0.82)
265 obs / 357.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.52 (0.37–0.76)
0≤0.351.4
Missense OE?0.74 (0.67–0.82)
0≤0.61.4
Synonymous OE?0.85
0≤1.21.6
LoF obs/exp: 20 / 38.4Missense obs/exp: 265 / 357.9Syn Z: 1.31

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CEP76 · 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