CEP350

protein-coding

centrosomal protein 350

Gene summary

The product of this gene is a large protein with a CAP-Gly domain typically found in cytoskeleton-associated proteins. The encoded protein primarily localizes to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. The encoded protein directly interacts with another large centrosomal protein and is required to anchor microtubules at the centrosome. It is also implicated in the regulation of a class of nuclear hormone receptors in the nucleus. Several alternatively spliced transcript variants have been found, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]

MANE transcript

NM_014810.5

Inheritance

—

ClinVar variants

U:445B:25

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.12

Max pathogenic AF

—

Genomic locus

chr1:179,954,674-180,114,880

External References & Databases

Ensembl (ENSG00000135837)

Transcript & Mutation Effects

hg38 • Region Span ~160.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CEP350 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 418

not providedTotal: 21

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_014810.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			4 clinvar	7 clinvar		11
missense			418 clinvar	16 clinvar	2 clinvar	436
nonsense			6 clinvar			6
start loss						0
frameshift			7 clinvar			7
splice donor/acceptor (+/-2bp)			10 clinvar			10
Total	0	0	445	23	2	470

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 53 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_014810.5	RefSeq	NP_055625.4	37	MANE Select
ENST00000367607.8	Ensembl	ENSP00000356579.3	37	MANE Select
ENST00000417046.2	Ensembl	ENSP00000401608.2	37	Standard
ENST00000418229.6	Ensembl	ENSP00000407044.2	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

microtubule anchoring

Molecular Function

protein binding
microtubule binding

Cellular Component

nucleus
centrosome
centriole
spindle
membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000367607
Coding exons: 37
Length: 160143
Individuals with no LoFs: 125561
Homozygous LoFs: 0
Heterozygous LoFs: 32
Defined: 125593
p: 0.000127

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.39	1346	1.50e+3	0.899	0.0000764	20330
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00013	0.00012	rare
Latino/Admixed American	0.00020	0.00020	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.00011	0.00011	rare
Finnish	0.000093	0.000092	rare
European (Non-Finnish)	0.00015	0.00014	rare
South Asian	0.000067	0.000065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

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

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): E
Indispensability pred.: E
Indispensability score: 0.905

Gene Damage Prediction

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