CEP68

centrosomal protein 68

Basic information

Region (hg38): 2:65056354-65087004

Previous symbols: [ "KIAA0582" ]

Links

ENSG00000011523 ∙ NCBI:23177 ∙ OMIM:616889 ∙ HGNC:29076 ∙ Uniprot:Q76N32 ∙ 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 CEP68 gene.

• not_specified (136 variants)
• not_provided (12 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CEP68 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000015147.3. 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				3	3	6
missense			123	13	3	139
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	123	16	6

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CEP68	protein_coding	protein_coding	ENST00000377990	5	30639

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.518	0.482	125711	0	37	125748	0.000147

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.625	457	421	1.09	0.0000242	4846
Missense in Polyphen		95	94.209	1.0084		1238
Synonymous	-1.10	193	175	1.11	0.0000100	1651
Loss of Function	3.57	5	23.8	0.210	0.00000103	290

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000184	0.000181
Ashkenazi Jewish	0.00	0.00
East Asian	0.000328	0.000326
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000196	0.000193
Middle Eastern	0.000328	0.000326
South Asian	0.0000656	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in maintenance of centrosome cohesion, probably as part of a linker structure which prevents centrosome splitting (PubMed:18042621). Required for localization of CDK5RAP2 to the centrosome during interphase (PubMed:24554434, PubMed:25503564). {ECO:0000269|PubMed:18042621, ECO:0000269|PubMed:24554434, ECO:0000269|PubMed:25503564}.

Recessive Scores

• pRec: 0.0950

Intolerance Scores

• loftool: 0.670
• rvis_EVS: 0.72
• rvis_percentile_EVS: 85.85

Haploinsufficiency Scores

• pHI: 0.0598
• hipred: N
• hipred_score: 0.273
• ghis: 0.482

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0564

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cep68

Gene ontology

• Biological process: centrosome cycle;centriole-centriole cohesion;protein localization to organelle
• Cellular component: nucleus;centrosome;microtubule organizing center;cytosol;cell junction
• Molecular function: protein binding;protein kinase binding;protein domain specific binding