CCNQ

cyclin Q, the group of Cyclins

Basic information

Region (hg38): X:153587925-153600045

Previous symbols: [ "FAM58A" ]

Links

ENSG00000262919

∙ NCBI:92002 ∙ OMIM:300708 ∙ HGNC:28434 ∙ Uniprot:Q8N1B3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

syndactyly-telecanthus-anogenital and renal malformations syndrome (Supportive), mode of inheritance: XL
syndactyly-telecanthus-anogenital and renal malformations syndrome (Definitive), mode of inheritance: XL
syndactyly-telecanthus-anogenital and renal malformations syndrome (Strong), mode of inheritance: XL

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Toe syndactyly, telecanthus, and anogenital and renal malformations (STAR syndrome)	XL	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Craniofacial; Gastrointestinal; Genitourinary; Musculoskeletal; Renal	8818947; 18297069

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CCNQ gene.

not_provided (45 variants)
not_specified (8 variants)
Syndactyly-telecanthus-anogenital_and_renal_malformations_syndrome (5 variants)
CCNQ-related_disorder (4 variants)
Decreased_total_neutrophil_count (1 variants)
Decreased_total_lymphocyte_count (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCNQ gene is commonly pathogenic or not. These statistics are base on transcript: NM_000152274.5. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				11 clinvar	8 clinvar	19
missense			17 clinvar	5 clinvar	2 clinvar	24
nonsense	1 clinvar	2 clinvar				3
start loss						0
frameshift	1 clinvar		1 clinvar		3 clinvar	5
splice donor/acceptor (+/-2bp)	2 clinvar					2
Total	4	2	18	16	13

Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Activating cyclin for the cyclin-associated kinase CDK10. {ECO:0000269|PubMed:18297069, ECO:0000269|PubMed:24218572}.;
Disease: DISEASE: Toe syndactyly, telecanthus, and anogenital and renal malformations (STAR) [MIM:300707]: A syndrome characterized by anal, genital and renal tract anomalies, facial dysmorphism and syndactyly. Features include anal stenosis, a rectovaginal fistula, clitoral hypertrophy, a pelvic right kidney, toe syndactyly, and telecanthus. {ECO:0000269|PubMed:18297069}. Note=The disease is caused by mutations affecting the gene represented in this entry.;

Recessive Scores

pRec: 0.0970

Haploinsufficiency Scores

pHI: 0.158
hipred: Y
hipred_score: 0.580
ghis

Mouse Genome Informatics

Gene name: Ccnq
Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);

Gene ontology

Biological process: regulation of cyclin-dependent protein serine/threonine kinase activity;regulation of transcription by RNA polymerase II
Cellular component: nucleus
Molecular function: protein binding;cyclin-dependent protein serine/threonine kinase regulator activity