CEP126

centrosomal protein 126

Basic information

Region (hg38): 11:101915010-102001062

Previous symbols: [ "KIAA1377" ]

Links

ENSG00000110318 ∙ NCBI:57562 ∙ OMIM:614634 ∙ HGNC:29264 ∙ Uniprot:Q9P2H0 ∙ 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 CEP126 gene.

• not_specified (117 variants)
• not_provided (12 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CEP126 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020802.4. 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				1	2	3
missense			104	13	6	123
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	104	14	8

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CEP126	protein_coding	protein_coding	ENST00000263468	11	86044

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.22e-18	0.477	125493	0	254	125747	0.00101

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.557	518	555	0.933	0.0000265	7352
Missense in Polyphen		100	122.21	0.81824		1810
Synonymous	-0.399	206	199	1.04	0.00000931	2091
Loss of Function	1.76	34	47.0	0.723	0.00000241	629

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0116	0.0116
Ashkenazi Jewish	0.00	0.00
East Asian	0.000872	0.000816
Finnish	0.0000928	0.0000924
European (Non-Finnish)	0.000182	0.000176
Middle Eastern	0.000872	0.000816
South Asian	0.000698	0.000686
Other	0.000655	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Participates in cytokinesis (PubMed:19799413). Necessary for microtubules and mitotic spindle organization (PubMed:24867236). Involved in primary cilium formation (PubMed:24867236). {ECO:0000269|PubMed:19799413, ECO:0000269|PubMed:24867236}.

Recessive Scores

• pRec: 0.0838

Intolerance Scores

• rvis_EVS: 0.45
• rvis_percentile_EVS: 78.04

Haploinsufficiency Scores

• pHI: 0.0940
• hipred: N
• hipred_score: 0.123
• ghis: 0.474

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Cep126

Gene ontology

• Biological process: mitotic spindle organization;cytoplasmic microtubule organization;cilium assembly;non-motile cilium assembly
• Cellular component: cytoplasm;centrosome;midbody;ciliary base
• Molecular function: protein binding