CNTROB

protein-coding

centrobin, centriole duplication and spindle assembly protein

Gene summary

This gene encodes a centrosomal protein that interacts with BRCA2, and is required for centriole duplication and cytokinesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

MANE transcript

NM_053051.5

Inheritance

—

ClinVar variants

U:149B:11

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.62

Max pathogenic AF

—

Genomic locus

chr17:7,932,101-7,949,920

External References & Databases

Ensembl (ENSG00000170037)

Transcript & Mutation Effects

hg38 • Region Span ~17.8 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CNTROB variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 151

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_053051.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	3 clinvar		4
missense			144 clinvar	8 clinvar		152
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	149	11	0	160

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 59 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_053051.5	RefSeq	NP_444279.2	19	MANE Select
ENST00000563694.6	Ensembl	ENSP00000456335.1	19	MANE Select
NM_001037144.7	RefSeq	NP_001032221.1	19	Standard
NM_001330124.3	RefSeq	NP_001317053.1	19	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

centriole replication
centrosome separation
regulation of cilium assembly
mitotic cytokinetic process

Molecular Function

protein binding
protein domain specific binding

Cellular Component

centrosome
centriole
cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000380262
Coding exons: 19
Length: 17818
Individuals with no LoFs: 125635
Homozygous LoFs: 1
Heterozygous LoFs: 112
Defined: 125748
p: 0.000449

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.674	501	545	0.919	0.0000334	5933
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0011	0.0010	notable
Latino/Admixed American	0.00058	0.00055	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00060	0.00060	rare
Finnish	0.000050	0.000046	rare
European (Non-Finnish)	0.00041	0.00041	rare
South Asian	0.00056	0.00052	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

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

Essentials

Essential (CRISPR): E
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.746

Gene Damage Prediction

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