CEP15

Chr 3

centrosomal protein 15

Also known as: C3orf14, HT021

NCBI Gene: 57415ENSG00000114405UniProt: Q9HBI5

CEP15 encodes a protein predicted to be located in the cilium and may be involved in ciliary assembly. Mutations in CEP15 have not been definitively associated with human disease based on the available information. The gene shows low constraint against loss-of-function variants (pLI near 0, LOEUF >1), suggesting tolerance to such mutations.

ResearchSummary from RefSeq, UniProt
LOEUF 1.80
Clinical Summary— CEP15
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.80LOEUF
pLI 0.000
Z-score -0.17
OE 1.07 (0.60–1.80)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.35Z-score
OE missense 0.88 (0.71–1.09)
57 obs / 64.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE1.07 (0.60–1.80)
0≤0.351.4
Missense OE0.88 (0.71–1.09)
0≤0.61.4
Synonymous OE0.89
0≤1.21.6
LoF obs/exp: 7 / 6.5Missense obs/exp: 57 / 64.9Syn Z: 0.40

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CEP15 · 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

ClinicalTrials.gov

No active trials found for this gene.

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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