CCP110

Chr 16

centriolar coiled-coil protein 110

Also known as: CP110, Cep110

CCP110 encodes a protein necessary for centrosome duplication and acts as a key negative regulator of ciliogenesis by capping the mother centriole to prevent cilia formation, while also being required for correct spindle formation and cytokinesis regulation. The gene is highly constrained against loss-of-function variants (LOEUF 0.454), suggesting that mutations are likely to cause severe developmental phenotypes. Pathogenic variants are expected to follow an autosomal dominant inheritance pattern given the gene's critical cellular functions and constraint metrics.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.45
Clinical SummaryCCP110
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.29) despite low pLI — interpret in context.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.45LOEUF
pLI 0.007
Z-score 4.46
OE 0.29 (0.180.45)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.28Z-score
OE missense 0.84 (0.780.91)
437 obs / 518.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.29 (0.180.45)
00.351.4
Missense OE0.84 (0.780.91)
00.61.4
Synonymous OE0.82
01.21.6
LoF obs/exp: 13 / 45.5Missense obs/exp: 437 / 518.7Syn Z: 1.91

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CCP110 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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