CEP95
Chr 17centrosomal protein 95
Also known as: CCDC45
Located in centrosome and spindle pole. [provided by Alliance of Genome Resources, Jul 2025]
Clinical Summary— CEP95
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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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ClinVar Variants
9 Pathogenic / Likely Pathogenic· 124 VUS of 143 total submissions
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.99LOEUF
pLI 0.000
Z-score 1.61
OE 0.75 (0.57–0.99)
Typical tolerance to LoF variation
Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.71Z-score
OE missense 1.10 (1.02–1.19)
449 obs / 408.9 exp
Tolerant to missense variation
Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.75 (0.57–0.99)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.10 (1.02–1.19)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.00
0≤1.21.6
LoF obs/exp: 36 / 48.0Missense obs/exp: 449 / 408.9Syn Z: 0.03
ClinVar Variant Classifications
143 submitted variants in ClinVar
Classification Summary
Pathogenic9
VUS124
Likely Benign9
Benign1
9
Pathogenic
124
VUS
9
Likely Benign
1
Benign
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 9 | 0 | 9 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 121 | 3 | 0 | 124 |
Likely Benign | 0 | 9 | 0 | 0 | 9 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 130 | 13 | 0 | 143 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CEP95 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype
No OMIM entries found.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease.
Tambi R et al.·Physiol Genomics
2023Meta-analysis
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
No open access results found
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
A multi-omics Mendelian randomization identifies putatively causal genes and DNA methylation sites for asthma
Wang J et al.·World Allergy Organ J
2024
Technical Note: Assessing GPS Sensor Accuracy Using Real-Time Kinematic Device for Livestock Tracking.
Zhao B et al.·J Anim Sci
2024
Analysis of the role of METTL5 as a hub gene in lung adenocarcinoma based on a weighted gene co-expression network.
Yan X et al.·Math Biosci Eng
2021
Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry.
Graff M et al.·Am J Hum Genet
2021
Multi-tissue transcriptome-wide association study identifies novel candidate susceptibility genes for cataract
Choquet H et al.·Front Ophthalmol (Lausanne)
2024
Brain Transcriptome Changes Associated With an Acute Increase of Protein O-GlcNAcylation and Implications for Neurodegenerative Disease
Bell MB et al.·J Neurochem
2025
ORC1 binds to cis-transcribed RNAs for efficient activation of replication origins
Mas AM et al.·Nat Commun
2023
Whole genome sequencing identifies rare genetic variants in familial pancreatic cancer patients
Tan M et al.·Ann Hum Genet
2022Cohort
Differential blood DNA methylation across Lewy body dementias
Nasamran CA et al.·Alzheimers Dement (Amst)
2021
Top 9 full-text resultsSearch PubTator3 ↗
External Resources
Links to major genomics databases and tools