CEP120

Chr 5

centrosomal protein 120

Also known as: CCDC100, JBTS31, SRTD13

NCBI Gene: 153241ENSG00000168944UniProt: Q8N960

This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of nuclear movement in neural progenitors, and in neural progenitor self-renewal. Mutations in this gene are predicted to result in neurogenic defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtShort-rib thoracic dysplasia 13 with or without polydactyly
UniProtJoubert syndrome 31

Clinical highlights

Gene-disease validity (ClinGen)
ciliopathy · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
1
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.80
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — CEP120
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
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 2.78
OE 0.59 (0.45–0.80)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.23Z-score
OE missense 1.03 (0.96–1.11)
525 obs / 510.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.59 (0.45–0.80)
0≤0.351.4
Missense OE?1.03 (0.96–1.11)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 32 / 54.1Missense obs/exp: 525 / 510.2Syn Z: -0.23

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CEP120 · protein map & ClinVar variants

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

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