CEP192

centrosomal protein 192, the group of Protein phosphatase 1 regulatory subunits

Basic information

Region (hg38): 18:12991361-13125052

Links

ENSG00000101639 ∙ NCBI:55125 ∙ OMIM:616426 ∙ HGNC:25515 ∙ Uniprot:Q8TEP8 ∙ 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 CEP192 gene.

• Inborn genetic diseases (90 variants)
• not provided (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CEP192 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				1	2	3
missense			82	9	4	95
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	82	10	6

Variants in CEP192

This is a list of pathogenic ClinVar variants found in the CEP192 region.

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

Position	Type	Phenotype	Significance	ClinVar
18-12999534-G-T		not specified	Uncertain significance (Dec 13, 2022)
18-13001489-A-G		not specified	Uncertain significance (Aug 08, 2022)
18-13001506-C-G		not specified	Uncertain significance (Dec 15, 2023)
18-13008498-G-C			Benign (Apr 11, 2018)
18-13008502-A-G		not specified	Likely benign (Apr 26, 2023)
18-13008566-G-A		not specified	Uncertain significance (Oct 04, 2022)
18-13015383-T-G		not specified	Uncertain significance (Dec 07, 2023)
18-13015390-C-G			Likely benign (Sep 01, 2022)
18-13017215-A-C		not specified	Uncertain significance (Feb 14, 2023)
18-13017268-T-C		not specified	Uncertain significance (Jul 20, 2021)
18-13017287-C-T		not specified	Uncertain significance (Sep 16, 2021)
18-13017319-A-G		not specified	Uncertain significance (Aug 22, 2023)
18-13018559-C-T		not specified	Uncertain significance (Jun 18, 2021)
18-13019127-T-C		not specified	Uncertain significance (Nov 08, 2022)
18-13029667-G-T		not specified	Uncertain significance (Sep 14, 2022)
18-13029681-G-A		not specified	Uncertain significance (Nov 21, 2023)
18-13029736-A-G		not specified	Uncertain significance (Sep 26, 2023)
18-13029751-A-G		not specified	Likely benign (Sep 27, 2021)
18-13029918-A-T		not specified	Uncertain significance (Nov 10, 2022)
18-13029948-A-G		not specified	Uncertain significance (Nov 21, 2023)
18-13030503-G-A		not specified	Uncertain significance (Jan 03, 2022)
18-13030533-T-C		not specified	Uncertain significance (Mar 29, 2023)
18-13030562-A-T		not specified	Uncertain significance (Nov 18, 2022)
18-13037258-C-T		not specified	Uncertain significance (Jun 21, 2023)
18-13038416-C-T		not specified	Likely benign (Feb 06, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CEP192	protein_coding	protein_coding	ENST00000506447	44	133691

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.24e-22	1.00	125535	5	208	125748	0.000847

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.998	1193	1.29e+3	0.922	0.0000672	16555
Missense in Polyphen		306	389.93	0.78476		5212
Synonymous	0.760	460	481	0.956	0.0000270	4935
Loss of Function	5.20	57	118	0.483	0.00000634	1536

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00992	0.00518
Ashkenazi Jewish	0.00298	0.00288
East Asian	0.000786	0.000761
Finnish	0.000465	0.000416
European (Non-Finnish)	0.000577	0.000501
Middle Eastern	0.000786	0.000761
South Asian	0.000306	0.000294
Other	0.000993	0.000815

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Required for mitotic centrosome maturation and bipolar spindle assembly (PubMed:25042804, PubMed:17980596, PubMed:18207742). Appears to be a major regulator of pericentriolar material (PCM) recruitment, centrosome maturation, and centriole duplication (PubMed:25042804, PubMed:17980596, PubMed:18207742). Centrosome-specific activating scaffold for AURKA and PLK1 (PubMed:25042804). {ECO:0000269|PubMed:17980596, ECO:0000269|PubMed:18207742, ECO:0000269|PubMed:25042804}.
• Pathway: Gastric Cancer Network 1;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: 0.109

Intolerance Scores

• loftool: 0.850
• rvis_EVS: 1.49
• rvis_percentile_EVS: 95.37

Haploinsufficiency Scores

• pHI: 0.0904
• hipred: Y
• hipred_score: 0.519
• ghis: 0.534

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.471

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cep192

Zebrafish Information Network

• Gene name: cep192
• Affected structure: trunk
• Phenotype tag: abnormal
• Phenotype quality: bent

Gene ontology

• Biological process: G2/M transition of mitotic cell cycle;response to bacterium;regulation of G2/M transition of mitotic cell cycle;negative regulation of phosphatase activity;centrosome duplication;protein localization to centrosome;centrosome-templated microtubule nucleation;mitotic spindle assembly;ciliary basal body-plasma membrane docking
• Cellular component: pericentriolar material;centrosome;centriole;cytosol
• Molecular function: protein binding;phosphatase binding