CEP95

centrosomal protein 95

Basic information

Region (hg38): 17:64506865-64542461

Previous symbols: [ "CCDC45" ]

Links

ENSG00000258890 ∙ NCBI:90799 ∙ ∙ HGNC:25141 ∙ Uniprot:Q96GE4 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CEP95 gene.

• not_specified (112 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CEP95 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000138363.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			104	8		112
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	104	8	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CEP95	protein_coding	protein_coding	ENST00000556440	20	35874

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.46e-19	0.249	124352	0	286	124638	0.00115

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.706	449	409	1.10	0.0000213	5371
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00214	0.00213
Ashkenazi Jewish	0.000300	0.000298
East Asian	0.00106	0.00106
Finnish	0.000836	0.000836
European (Non-Finnish)	0.00126	0.00125
Middle Eastern	0.00106	0.00106
South Asian	0.00103	0.00101
Other	0.00269	0.00265

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0851

Intolerance Scores

• rvis_EVS: -0.31
• rvis_percentile_EVS: 32.15

Haploinsufficiency Scores

• pHI: 0.270
• hipred: N
• hipred_score: 0.200
• ghis: 0.589

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cep95

Gene ontology

• Cellular component: spindle pole;cytoplasm;centrosome
• Molecular function: protein binding