CNTROB

centrobin, centriole duplication and spindle assembly protein

Basic information

Region (hg38): 17:7932101-7949920

Links

ENSG00000170037 ∙ NCBI:116840 ∙ OMIM:611425 ∙ HGNC:29616 ∙ Uniprot:Q8N137 ∙ 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 CNTROB gene.

• not_specified (132 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CNTROB gene is commonly pathogenic or not. These statistics are base on transcript: NM_000053051.5. 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				3		3
missense			122	8		130
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	122	11	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CNTROB	protein_coding	protein_coding	ENST00000380262	19	17818

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.82e-16	0.982	125635	1	112	125748	0.000449

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.674	501	545	0.919	0.0000334	5933
Missense in Polyphen		189	197.34	0.95773		2158
Synonymous	0.560	208	219	0.952	0.0000120	1915
Loss of Function	2.58	34	54.6	0.623	0.00000300	559

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00164	0.00162
Ashkenazi Jewish	0.00	0.00
East Asian	0.000599	0.000598
Finnish	0.0000503	0.0000462
European (Non-Finnish)	0.000414	0.000413
Middle Eastern	0.000599	0.000598
South Asian	0.000556	0.000523
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Required for centriole duplication. Inhibition of centriole duplication leading to defects in cytokinesis. {ECO:0000269|PubMed:16275750}.

Recessive Scores

• pRec: 0.104

Intolerance Scores

• loftool: 0.953
• rvis_EVS: -0.01
• rvis_percentile_EVS: 52.35

Haploinsufficiency Scores

• pHI: 0.0949
• hipred: N
• hipred_score: 0.328
• ghis: 0.599

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.746

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cntrob

Gene ontology

• Biological process: centriole replication;centrosome separation;regulation of cilium assembly;mitotic cytokinetic process
• Cellular component: centrosome;centriole;cytosol
• Molecular function: protein binding;protein domain specific binding