CEP128

centrosomal protein 128

Basic information

Region (hg38): 14:80476982-80959517

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.

• Inborn genetic diseases (47 variants)
• not provided (19 variants)
• Hypothyroidism due to TSH receptor mutations (8 variants)
• Familial hyperthyroidism due to mutations in TSH receptor (8 variants)
• not specified (5 variants)
• THYROTROPIN RECEPTOR POLYMORPHISM (1 variants)
• Familial gestational hyperthyroidism (1 variants)
• Familial hyperthyroidism due to mutations in TSH receptor;Hypothyroidism due to TSH receptor mutations;Familial gestational hyperthyroidism (1 variants)
• TSHR-Related Disorders (1 variants)
• Developmental delay;autistic features;Epilepsy (1 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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					2	2
missense			42	4		46
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding	3	1	7	6	2	19
Total	3	1	49	10	4

Highest pathogenic variant AF is 0.00000657

Variants in CEP128

This is a list of pathogenic ClinVar variants found in the CEP128 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
14-80497483-C-T		not specified	Uncertain significance (Aug 14, 2023)
14-80497489-T-C		not specified	Uncertain significance (Oct 29, 2021)
14-80497506-T-A		not specified	Uncertain significance (Jul 19, 2023)
14-80497541-T-G		not specified	Uncertain significance (Sep 20, 2023)
14-80497551-T-G			Benign (Dec 31, 2019)
14-80497574-T-C		not specified	Uncertain significance (Aug 16, 2021)
14-80504948-G-A		not specified	Uncertain significance (Jan 24, 2023)
14-80504983-C-T		not specified	Uncertain significance (Dec 16, 2022)
14-80505019-C-T		not specified	Likely benign (Oct 02, 2023)
14-80526890-C-A		not specified	Uncertain significance (Jun 22, 2023)
14-80526895-T-C		not specified	Uncertain significance (Sep 17, 2021)
14-80526898-C-T		not specified	Uncertain significance (Oct 05, 2023)
14-80526987-A-G			Likely benign (Feb 26, 2018)
14-80530816-T-G		not specified	Uncertain significance (Dec 19, 2023)
14-80530886-T-C		not specified	Uncertain significance (Dec 22, 2023)
14-80559298-C-T		not specified	Uncertain significance (May 18, 2023)
14-80580411-T-C		not specified	Uncertain significance (Mar 20, 2023)
14-80743097-A-T		not specified	Likely benign (Dec 15, 2023)
14-80743122-A-G		not specified	Uncertain significance (Jul 25, 2023)
14-80743140-T-C		not specified	Uncertain significance (Jan 09, 2024)
14-80743212-T-C		not specified	Likely benign (May 17, 2023)
14-80743239-A-G		not specified	Uncertain significance (Jul 26, 2023)
14-80756918-G-A		not specified	Uncertain significance (Jul 17, 2023)
14-80756950-A-G		not specified	Uncertain significance (Dec 28, 2023)
14-80761474-C-A		not specified	Uncertain significance (Sep 26, 2023)

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