CEP41

Chr 7AR

centrosomal protein 41

Also known as: JBTS15, TSGA14

NCBI Gene: 95681ENSG00000106477UniProt: Q9BYV8OMIM: 610523

The protein is required for ciliogenesis and facilitates tubulin glutamylation in cilia by participating in the transport of TTLL6 tubulin polyglutamylase between the basal body and cilium. Mutations cause Joubert syndrome 15, an autosomal recessive ciliopathy characterized by neurological abnormalities. This gene shows high constraint against loss-of-function variants, indicating its critical role in normal development.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismARLOEUF 0.921 OMIM phenotype
Clinical Summary— CEP41
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Gene-Disease Validity (ClinGen)
ciliopathy · ARStrong

Strong evidence — appropriate for clinical testing

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
22 unique Pathogenic / Likely Pathogenic· 132 VUS of 300 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.92LOEUF
pLI 0.000
Z-score 1.83
OE 0.57 (0.36–0.92)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.35Z-score
OE missense 0.93 (0.83–1.05)
188 obs / 201.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.57 (0.36–0.92)
0≤0.351.4
Missense OE0.93 (0.83–1.05)
0≤0.61.4
Synonymous OE0.95
0≤1.21.6
LoF obs/exp: 12 / 21.1Missense obs/exp: 188 / 201.9Syn Z: 0.33
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
definitiveCEP41-related Joubert syndromeLOFAR

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.7326th %ile
GOF
0.5171th %ile
LOF
0.3259th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

300 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic16
Likely Pathogenic6
VUS132
Likely Benign115
Benign10
16
Pathogenic
6
Likely Pathogenic
132
VUS
115
Likely Benign
10
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
10
0
6
0
16
Likely Pathogenic
5
1
0
0
6
VUS
1
116
12
3
132
Likely Benign
1
2
66
46
115
Benign
0
0
10
0
10
Total171199449279

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CEP41 · 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.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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