CEP85

centrosomal protein 85

Basic information

Region (hg38): 1:26234200-26278808

Previous symbols: [ "CCDC21" ]

Links

ENSG00000130695 ∙ NCBI:64793 ∙ OMIM:618898 ∙ HGNC:25309 ∙ Uniprot:Q6P2H3 ∙ 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 CEP85 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CEP85 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					2	2
missense			40	3	2	45
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	40	3	4

Variants in CEP85

This is a list of pathogenic ClinVar variants found in the CEP85 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-26239798-G-C		not specified	Uncertain significance (Jul 12, 2023)
1-26239836-C-T		not specified	Uncertain significance (Dec 05, 2022)
1-26244252-C-T		not specified	Uncertain significance (Dec 04, 2023)
1-26244253-G-A			Benign (Jul 13, 2018)
1-26244269-C-A			Benign (Jul 13, 2018)
1-26255209-A-G		not specified	Uncertain significance (Dec 22, 2023)
1-26255258-T-C		not specified	Uncertain significance (Jun 11, 2021)
1-26255270-C-T		not specified	Uncertain significance (Aug 21, 2023)
1-26255313-A-C		not specified	Uncertain significance (Aug 04, 2021)
1-26255425-A-G		not specified	Likely benign (Jul 20, 2022)
1-26255446-C-G		not specified	Uncertain significance (Jun 22, 2021)
1-26255489-C-T		not specified	Likely benign (Feb 17, 2022)
1-26255490-G-A			Benign (Jul 26, 2018)
1-26255492-G-A		not specified	Uncertain significance (Jan 17, 2024)
1-26255504-T-C		not specified	Uncertain significance (Sep 14, 2021)
1-26255528-A-G		not specified	Uncertain significance (May 22, 2024)
1-26255579-G-A		not specified	Likely benign (Nov 17, 2023)
1-26255590-C-T		not specified	Uncertain significance (Jun 24, 2022)
1-26255608-A-G		not specified	Uncertain significance (Feb 28, 2023)
1-26255633-A-G		not specified	Uncertain significance (Jan 22, 2024)
1-26255662-G-C		not specified	Uncertain significance (Mar 25, 2022)
1-26255671-C-T		not specified	Uncertain significance (Jun 16, 2024)
1-26255728-C-T		not specified	Uncertain significance (Dec 01, 2022)
1-26255792-G-A		not specified	Uncertain significance (Jun 08, 2022)
1-26255825-A-G		not specified	Uncertain significance (May 16, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CEP85	protein_coding	protein_coding	ENST00000252992	13	44609

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000270	1.00	125702	0	46	125748	0.000183

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.224	404	417	0.969	0.0000230	4981
Missense in Polyphen		110	136.99	0.80297		1769
Synonymous	0.890	143	157	0.910	0.00000859	1459
Loss of Function	3.94	14	41.3	0.339	0.00000219	460

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000585	0.000585
Ashkenazi Jewish	0.0000994	0.0000992
East Asian	0.000110	0.000109
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000220	0.000220
Middle Eastern	0.000110	0.000109
South Asian	0.000131	0.000131
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as a negative regulator of NEK2 to maintain the centrosome integrity in interphase. Suppresses centrosome disjunction by inhibiting NEK2 kinase activity (PubMed:26220856). {ECO:0000269|PubMed:26220856}.

Intolerance Scores

• rvis_EVS: -0.11
• rvis_percentile_EVS: 45.57

Haploinsufficiency Scores

• pHI: 0.184
• hipred: N
• hipred_score: 0.492
• ghis: 0.521

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• 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: Cep85

Gene ontology

• Biological process: negative regulation of protein kinase activity;chromosome segregation;regulation of mitotic centrosome separation
• Cellular component: pericentriolar material;spindle pole;nucleolus;mitochondrion;Golgi apparatus;centrosome;microtubule organizing center;cytosol
• Molecular function: protein binding