CNTRL

protein-coding

centriolin

Gene summary

This gene encodes a centrosomal protein required for the centrosome to function as a microtubule organizing center. The gene product is also associated with centrosome maturation. One version of stem cell myeloproliferative disorder is the result of a reciprocal translocation between chromosomes 8 and 9, with the breakpoint associated with fibroblast growth factor receptor 1 and centrosomal protein 1. [provided by RefSeq, Jul 2008]

Previous symbols:

CEP1
CEP110

MANE transcript

NM_007018.6

Inheritance

—

ClinVar variants

U:297B:41

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.76

Max pathogenic AF

—

Genomic locus

chr9:121,074,660-121,177,729

External References & Databases

Ensembl (ENSG00000119397)

Transcript & Mutation Effects

hg38 • Region Span ~103.1 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 CNTRL variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 298

not providedTotal: 20

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_007018.6. 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			4 clinvar	3 clinvar	4 clinvar	11
missense			283 clinvar	29 clinvar	5 clinvar	317
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			9 clinvar			9
Total	0	0	297	32	9	338

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 76 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_007018.6	RefSeq	NP_008949.4	42	MANE Select
ENST00000373855.7	Ensembl	ENSP00000362962.1	42	MANE Select
NM_001330762.2	RefSeq	NP_001317691.1	32	Standard
NM_001369892.1	RefSeq	NP_001356821.1	31	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Disease
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

Biological Process

G2/M transition of mitotic cell cycle
regulation of G2/M transition of mitotic cell cycle
peptidyl-tyrosine phosphorylation
cell division
regulation of cytoskeleton organization

Molecular Function

protein tyrosine kinase activity
protein binding
cytoskeletal protein binding

Cellular Component

centrosome
microtubule organizing center
cytosol
membrane
Flemming body

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000373855
Coding exons: 42
Length: 102748
Individuals with no LoFs: 125344
Homozygous LoFs: 2
Heterozygous LoFs: 402
Defined: 125748
p: 0.00161

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.218	1113	1.13e+3	0.982	0.0000570	15373
Missense (PolyPhen)		276	295.3	0.93463		4303
Synonymous	0.845	384	406	0.947	0.0000192	4132
Loss of Function	2.62	102	135	0.757	0.00000738	1660

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0019	0.0018	notable
Latino/Admixed American	0.0015	0.0014	notable
Ashkenazi Jewish	0.00070	0.00069	rare
East Asian	0.0015	0.0014	notable
Finnish	0.00074	0.00074	rare
European (Non-Finnish)	0.0017	0.0017	notable
South Asian	0.0026	0.0024	notable
Other	0.0022	0.0021	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Involved in cell cycle progression and cytokinesis. During the late steps of cytokinesis, anchors exocyst and SNARE complexes at the midbody, thereby allowing secretory vesicle- mediated abscission. {ECO:0000269|PubMed:12732615, ECO:0000269|PubMed:16213214}.;

Recessive Scores

pRec: 0.110

Intolerance Scores

RVIS EVS: -0.08
RVIS percentile EVS: 47.23

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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