CEP95

protein-coding

centrosomal protein 95

Gene summary

Located in centrosome and spindle pole. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

CCDC45

MANE transcript

NM_138363.3

Inheritance

—

ClinVar variants

U:130B:9

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.75

Max pathogenic AF

—

Genomic locus

chr17:64,506,865-64,542,461

External References & Databases

Ensembl (ENSG00000258890)

Transcript & Mutation Effects

hg38 • Region Span ~35.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CEP95 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 131

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_138363.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			125 clinvar	9 clinvar		134
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	130	9	0	139

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 32 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_138363.3	RefSeq	NP_612372.1	20	MANE Select
ENST00000556440.7	Ensembl	ENSP00000450461.2	20	MANE Select
NM_001316990.2	RefSeq	NP_001303919.1	15	Standard
ENST00000553956.6	Ensembl	ENSP00000452317.2	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding

Cellular Component

spindle pole
cytoplasm
centrosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000556440
Coding exons: 20
Length: 35874
Individuals with no LoFs: 124352
Homozygous LoFs: 0
Heterozygous LoFs: 286
Defined: 124638
p: 0.00115

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.706	449	409	1.10	0.0000213	5371
Missense (PolyPhen)		158	138.18	1.1434		1953
Synonymous	0.0298	138	138	0.997	0.00000656	1485
Loss of Function	1.61	36	48.0	0.749	0.00000264	609

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00079	0.00078	rare
Latino/Admixed American	0.0014	0.0013	notable
Ashkenazi Jewish	0.00030	0.00030	rare
East Asian	0.0011	0.0011	notable
Finnish	0.00084	0.00084	rare
European (Non-Finnish)	0.0013	0.0012	notable
South Asian	0.0010	0.0010	notable
Other	0.0027	0.0026	notable

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0851

Intolerance Scores

RVIS EVS: -0.31
RVIS percentile EVS: 32.15

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium