CEP95

centrosomal protein 95

Basic information

Region (hg38): 17:64506864-64542461

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.

• Inborn genetic diseases (31 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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			27	4		31
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	27	4	0

Variants in CEP95

This is a list of pathogenic ClinVar variants found in the CEP95 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-64507101-G-A		not specified	Uncertain significance (Dec 01, 2023)
17-64508603-A-G		not specified	Likely benign (May 27, 2022)
17-64508631-A-G		not specified	Uncertain significance (Jun 01, 2023)
17-64508633-A-G		not specified	Uncertain significance (Apr 18, 2023)
17-64508635-A-G		not specified	Uncertain significance (Aug 02, 2021)
17-64508690-T-A		not specified	Uncertain significance (Sep 06, 2022)
17-64508699-A-G		not specified	Uncertain significance (Jan 16, 2024)
17-64510230-T-C		not specified	Uncertain significance (Jan 08, 2024)
17-64510258-G-T		not specified	Uncertain significance (Jan 17, 2024)
17-64516756-G-A		not specified	Uncertain significance (Feb 14, 2023)
17-64519407-C-T		not specified	Uncertain significance (May 18, 2023)
17-64519433-A-G		not specified	Uncertain significance (Nov 15, 2021)
17-64521485-C-T		not specified	Uncertain significance (Dec 21, 2022)
17-64522743-C-G		not specified	Uncertain significance (Jun 06, 2023)
17-64522767-A-G		not specified	Uncertain significance (Sep 14, 2022)
17-64522820-A-G		not specified	Uncertain significance (Oct 03, 2022)
17-64522882-C-T		not specified	Likely benign (Apr 20, 2023)
17-64525819-A-C		not specified	Uncertain significance (Jul 05, 2023)
17-64525833-C-G		not specified	Uncertain significance (Mar 06, 2023)
17-64525840-A-G		not specified	Uncertain significance (Aug 04, 2023)
17-64526121-G-A		not specified	Uncertain significance (Oct 25, 2022)
17-64527135-C-T		not specified	Uncertain significance (Sep 22, 2022)
17-64527157-A-G		not specified	Uncertain significance (Feb 17, 2023)
17-64527187-T-C		not specified	Uncertain significance (Jun 28, 2023)
17-64527199-C-G		not specified	Uncertain significance (Nov 22, 2023)

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