CEP295

centrosomal protein 295, the group of Small nucleolar RNA protein coding host genes

Basic information

Region (hg38): 11:93661682-93730358

Previous symbols: [ "KIAA1731" ]

Links

ENSG00000166004 ∙ NCBI:85459 ∙ OMIM:617728 ∙ HGNC:29366 ∙ Uniprot:Q9C0D2 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Seckel syndrome 11	AR	Cardiovascular	Among other findings, the condition can include congenital cardiac anomalies, and awareness may allow early intervention and management	Cardiovascular; Craniofacial; Genitourinary; Musculoskeletal; Neurologic; Ophthalmologic; Renal	38154379

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CEP295 gene.

• not_specified (349 variants)
• not_provided (22 variants)
• Seckel_syndrome_11 (4 variants)
• Meckel-Gruber_syndrome (1 variants)
• CEP295-related_condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CEP295 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000033395.2. 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				1	6	7
missense	1		327	23	11	362
nonsense	2					2
start loss						0
frameshift	1		1			2
splice donor/acceptor (+/-2bp)						0
Total	4	0	328	24	17

Highest pathogenic variant AF is 0.000018046283

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CEP295	protein_coding	protein_coding	ENST00000325212	29	68718

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.36e-13	1.00	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.66	999	1.16e+3	0.863	0.0000548	17046
Missense in Polyphen		206	263.21	0.78265		4377
Synonymous	2.75	355	427	0.831	0.0000207	4828
Loss of Function	6.13	43	113	0.379	0.00000560	1597

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Centriole-enriched microtubule-binding protein involved in centriole biogenesis (PubMed:20844083, PubMed:25131205, PubMed:27185865). Essential for the generation of the distal portion of new-born centrioles in a CENPJ- and CEP120-mediated elongation dependent manner during the cell cycle S/G2 phase after formation of the initiating cartwheel structure (PubMed:27185865). Required for the recruitment of centriolar proteins, such as POC1B, POC5 and CEP135, into the distal portion of centrioles (PubMed:27185865). Also required for centriole-to-centrosome conversion during mitotic progression, but is dispensable for cartwheel removal or centriole disengagement (PubMed:25131205). Binds to and stabilizes centriolar microtubule (PubMed:27185865). {ECO:0000269|PubMed:20844083, ECO:0000269|PubMed:25131205, ECO:0000269|PubMed:27185865}.

Recessive Scores

• pRec: 0.0830

Intolerance Scores

• rvis_EVS: 5.12
• rvis_percentile_EVS: 99.83

Haploinsufficiency Scores

• pHI: 0.0979
• hipred: N
• hipred_score: 0.112
• ghis: 0.400

Essentials

• essential_gene_gene_trap: E

Mouse Genome Informatics

• Gene name: Cep295

Gene ontology

• Biological process: positive regulation of centrosome duplication;regulation of centriole replication;positive regulation of protein acetylation;positive regulation of centriole elongation;positive regulation of establishment of protein localization
• Cellular component: cytoplasm;centrosome;centriole;cytosol;cytoskeleton;plasma membrane;mitotic spindle microtubule
• Molecular function: microtubule binding