CEP350

centrosomal protein 350

Basic information

Region (hg38): 1:179954674-180114880

Links

ENSG00000135837 ∙ NCBI:9857 ∙ OMIM:617870 ∙ HGNC:24238 ∙ Uniprot:Q5VT06 ∙ 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 CEP350 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CEP350 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				6		6
missense			149	8	2	159
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	149	14	2

Variants in CEP350

This is a list of pathogenic ClinVar variants found in the CEP350 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-179986231-C-T		not specified	Uncertain significance (Dec 09, 2023)
1-179986240-A-G		not specified	Uncertain significance (Nov 07, 2022)
1-179987281-G-A		not specified	Uncertain significance (May 15, 2023)
1-179990507-C-G		not specified	Uncertain significance (Jun 16, 2024)
1-179992097-C-G		not specified	Uncertain significance (Feb 28, 2024)
1-179992122-G-A		not specified	Uncertain significance (Dec 06, 2022)
1-179992172-G-A		not specified	Uncertain significance (Jan 04, 2024)
1-179992182-A-C		not specified	Uncertain significance (May 18, 2023)
1-179992187-C-T		not specified	Uncertain significance (Apr 07, 2023)
1-179992199-C-G		not specified	Uncertain significance (Sep 16, 2021)
1-179996606-A-G		not specified	Uncertain significance (Aug 13, 2021)
1-179996693-G-A		not specified	Uncertain significance (Jan 26, 2023)
1-179996705-G-A		not specified	Uncertain significance (Jun 04, 2024)
1-179996722-A-G		not specified	Uncertain significance (Oct 05, 2021)
1-179996755-C-G		not specified	Uncertain significance (Dec 13, 2022)
1-179996812-A-G		not specified	Likely benign (May 25, 2022)
1-179996879-A-G		not specified	Likely benign (Mar 25, 2024)
1-179996941-A-G		not specified	Uncertain significance (May 08, 2024)
1-179996948-C-T		not specified	Uncertain significance (Jun 07, 2024)
1-179997043-T-C		not specified	Uncertain significance (Dec 13, 2023)
1-179997157-C-T		not specified	Uncertain significance (Sep 16, 2021)
1-180006460-T-C		not specified	Uncertain significance (Sep 12, 2023)
1-180006500-G-C		not specified	Uncertain significance (Oct 12, 2021)
1-180006504-G-A		not specified	Uncertain significance (Mar 28, 2024)
1-180006513-C-G		not specified	Uncertain significance (Oct 26, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CEP350	protein_coding	protein_coding	ENST00000367607	37	160143

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	7.44e-11	125561	0	32	125593	0.000127

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.39	1346	1.50e+3	0.899	0.0000764	20330
Missense in Polyphen		393	478.93	0.82058		6690
Synonymous	0.990	502	531	0.945	0.0000265	5792
Loss of Function	9.58	17	139	0.122	0.00000784	1869

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000337	0.000327
Ashkenazi Jewish	0.000102	0.0000993
East Asian	0.000109	0.000109
Finnish	0.0000931	0.0000925
European (Non-Finnish)	0.000152	0.000141
Middle Eastern	0.000109	0.000109
South Asian	0.0000673	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays an essential role in centriole growth by stabilizing a procentriolar seed composed of at least, SASS6 and CENPJ (PubMed:19052644). Required for anchoring microtubules to the centrosomes and for the integrity of the microtubule network (PubMed:16314388, PubMed:17878239, PubMed:28659385). Recruits PPARA to discrete subcellular compartments and thereby modulates PPARA activity (PubMed:15615782). Required for ciliation (PubMed:28659385). {ECO:0000269|PubMed:15615782, ECO:0000269|PubMed:16314388, ECO:0000269|PubMed:17878239, ECO:0000269|PubMed:19052644, ECO:0000269|PubMed:28659385}.

Recessive Scores

• pRec: 0.100

Intolerance Scores

• loftool: 0.639
• rvis_EVS: 0.08
• rvis_percentile_EVS: 59.21

Haploinsufficiency Scores

• pHI: 0.487
• hipred: Y
• hipred_score: 0.637
• ghis: 0.571

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.905

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cep350

Gene ontology

• Biological process: microtubule anchoring
• Cellular component: nucleus;centrosome;centriole;spindle;membrane;cell projection
• Molecular function: protein binding;microtubule binding