CEP131

centrosomal protein 131

Basic information

Region (hg38): 17:81189593-81222999

Previous symbols: [ "AZI1" ]

Links

ENSG00000141577 ∙ NCBI:22994 ∙ OMIM:613479 ∙ HGNC:29511 ∙ Uniprot:Q9UPN4 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• male infertility with azoospermia or oligozoospermia due to single gene mutation (Moderate), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CEP131 gene.

• not_specified (210 variants)
• not_provided (10 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CEP131 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000014984.4. 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				6		6
missense			193	17		210
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	193	23	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CEP131	protein_coding	protein_coding	ENST00000450824	25	33407

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.36e-16	0.997	125619	0	129	125748	0.000513

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.379	636	663	0.959	0.0000462	6817
Missense in Polyphen		158	166.67	0.94797		1742
Synonymous	-0.126	286	283	1.01	0.0000195	2147
Loss of Function	2.95	34	58.3	0.583	0.00000295	645

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00178	0.00175
Ashkenazi Jewish	0.00	0.00
East Asian	0.000345	0.000326
Finnish	0.000191	0.000185
European (Non-Finnish)	0.000544	0.000492
Middle Eastern	0.000345	0.000326
South Asian	0.000165	0.000163
Other	0.00121	0.00114

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of centriolar satellites contributing to the building of a complex and dynamic network required to regulate cilia/flagellum formation (PubMed:17954613, PubMed:24185901). In proliferating cells, MIB1-mediated ubiquitination induces its sequestration within centriolar satellites, precluding untimely cilia formation initiation (PubMed:24121310). In contrast, during normal and ultraviolet or heat shock cellular stress-induced ciliogenesis, its non-ubiquitinated form is rapidly displaced from centriolar satellites and recruited to centrosome/basal bodies in a microtubule- and p38 MAPK-dependent manner (PubMed:24121310, PubMed:26616734). Acts also as a negative regulator of BBSome ciliary trafficking (PubMed:24550735). Plays a role in sperm flagellar formation; may be involved in the regulation of intraflagellar transport (IFT) and/or intramanchette (IMT) trafficking, which are important for axoneme extension and/or cargo delivery to the nascent sperm tail (By similarity). Required for optimal cell proliferation and cell cycle progression; may play a role in the regulation of genome stability in non- ciliogenic cells (PubMed:22797915, PubMed:26297806). Involved in centriole duplication (By similarity). Required for CEP152, WDR62 and CEP63 centrosomal localization and promotes the centrosomal localization of CDK2 (PubMed:26297806). {ECO:0000250|UniProtKB:Q62036, ECO:0000269|PubMed:17954613, ECO:0000269|PubMed:22797915, ECO:0000269|PubMed:24121310, ECO:0000269|PubMed:24185901, ECO:0000269|PubMed:24550735, ECO:0000269|PubMed:26297806, ECO:0000269|PubMed:26616734}.
• Pathway: Regulation of PLK1 Activity at G2/M Transition;Recruitment of mitotic centrosome proteins and complexes;Loss of Nlp from mitotic centrosomes;Loss of proteins required for interphase microtubule organization from the centrosome;Centrosome maturation;AURKA Activation by TPX2;G2/M Transition;Mitotic G2-G2/M phases;Recruitment of NuMA to mitotic centrosomes;Mitotic Prometaphase;M Phase;Cell Cycle;Cell Cycle, Mitotic;Anchoring of the basal body to the plasma membrane;Cilium Assembly;Organelle biogenesis and maintenance (Consensus)

Recessive Scores

• pRec: 0.143

Intolerance Scores

• rvis_EVS: 2.69
• rvis_percentile_EVS: 98.88

Haploinsufficiency Scores

• pHI: 0.113
• hipred: N
• hipred_score: 0.377
• ghis: 0.447

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Cep131
• Phenotype: reproductive system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cellular phenotype; endocrine/exocrine gland phenotype

Zebrafish Information Network

• Gene name: cep131
• Affected structure: otolith
• Phenotype tag: abnormal
• Phenotype quality: mislocalised

Gene ontology

• Biological process: G2/M transition of mitotic cell cycle;multicellular organism development;spermatogenesis;positive regulation of cell population proliferation;regulation of G2/M transition of mitotic cell cycle;regulation of centrosome duplication;cell differentiation;intraciliary transport involved in cilium assembly;cilium assembly;protein localization to centrosome;positive regulation of intracellular protein transport;ciliary basal body-plasma membrane docking
• Cellular component: acrosomal vesicle;centrosome;microtubule organizing center;cytosol;microtubule cytoskeleton;centriolar satellite;ciliary transition zone;intracellular membrane-bounded organelle;intercellular bridge
• Molecular function: protein binding;protein homodimerization activity;protein-containing complex binding