CEP128

centrosomal protein 128

Basic information

Region (hg38): 14:80476983-80959517

Previous symbols: [ "C14orf61", "C14orf145" ]

Links

ENSG00000100629 ∙ NCBI:145508 ∙ ∙ HGNC:20359 ∙ Uniprot:Q6ZU80 ∙ 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 CEP128 gene.

• not_specified (140 variants)
• not_provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CEP128 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000152446.5. 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					2	2
missense			130	11	1	142
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	130	11	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CEP128	protein_coding	protein_coding	ENST00000555265	23	482532

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.72e-23	0.953	125607	1	140	125748	0.000561

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.328	593	571	1.04	0.0000315	7187
Missense in Polyphen		152	158.63	0.95819		2218
Synonymous	0.181	199	202	0.984	0.0000101	1947
Loss of Function	2.68	47	71.5	0.658	0.00000440	808

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00136	0.00136
Ashkenazi Jewish	0.00	0.00
East Asian	0.000598	0.000598
Finnish	0.000278	0.000231
European (Non-Finnish)	0.000391	0.000387
Middle Eastern	0.000598	0.000598
South Asian	0.00121	0.00118
Other	0.00115	0.000978

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: -0.68
• rvis_percentile_EVS: 15.4

Haploinsufficiency Scores

• pHI: 0.133
• hipred: N
• hipred_score: 0.462
• ghis: 0.572

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	High
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Cep128

Zebrafish Information Network

• Gene name: cep128
• Affected structure: whole organism
• Phenotype tag: abnormal
• Phenotype quality: dorsalized

Gene ontology

• Biological process: protein localization
• Cellular component: spindle pole;centriole;centriolar subdistal appendage