CEP20

centrosomal protein 20

Basic information

Region (hg38): 16:15865719-15888625

Previous symbols: [ "C16orf63", "FOPNL" ]

Links

ENSG00000133393 ∙ NCBI:123811 ∙ OMIM:617149 ∙ HGNC:26435 ∙ Uniprot:Q96NB1 ∙ 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 CEP20 gene.

• not_specified (28 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CEP20 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000144600.4. 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		1
missense			28	1		29
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1			1
Total	0	0	29	2	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CEP20	protein_coding	protein_coding	ENST00000255759	5	22906

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000183	0.264	125699	0	48	125747	0.000191

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.589	103	87.5	1.18	0.00000425	1118
Missense in Polyphen		20	25.757	0.77648		329
Synonymous	0.352	30	32.6	0.922	0.00000149	326
Loss of Function	0.140	9	9.46	0.951	6.34e-7	110

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000216	0.000198
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.00	0.00
Finnish	0.00134	0.00134
European (Non-Finnish)	0.0000806	0.0000791
Middle Eastern	0.00	0.00
South Asian	0.000131	0.000131
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in the biogenesis of cilia (PubMed:20551181). Required for the recruitement of PLK1 to centrosomes and S phase progression (PubMed:24018379). {ECO:0000269|PubMed:20551181, ECO:0000269|PubMed:24018379}.

Intolerance Scores

• rvis_EVS: -0.07
• rvis_percentile_EVS: 48.12

Haploinsufficiency Scores

• pHI: 0.188
• hipred: N
• hipred_score: 0.174
• ghis: 0.650

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fopnl

Gene ontology

• Biological process: microtubule anchoring;cilium assembly
• Cellular component: nucleus;centrosome;centriole;motile cilium;centriolar satellite;ciliary basal body