CCNQ

cyclin Q, the group of Cyclins

Basic information

Region (hg38): X:153587924-153600045

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 (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.

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			2	8	7	17
missense			9	5	2	16
nonsense	1	2				3
start loss						0
frameshift					3	3
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1	3	4
non coding				1	11	12
Total	1	2	11	14	23

Variants in CCNQ

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

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

Position	Type	Phenotype	Significance	ClinVar
X-153588370-G-A		not specified	Uncertain significance (Jul 26, 2022)
X-153588376-C-T		not specified	Uncertain significance (Nov 04, 2023)
X-153588388-T-C			Likely benign (Nov 19, 2023)
X-153588390-T-C		CCNQ-related disorder	Likely benign (Jan 02, 2024)
X-153588443-G-A			Benign/Likely benign (Jan 13, 2023)
X-153588451-A-G			Uncertain significance (Nov 08, 2023)
X-153588455-C-T		Syndactyly-telecanthus-anogenital and renal malformations syndrome	Pathogenic (Mar 01, 2008)
X-153588459-AAAG-A			Benign (Aug 16, 2023)
X-153588463-A-G			Benign (Jul 06, 2023)
X-153592235-G-A			Benign (Nov 11, 2018)
X-153592362-G-A			Benign (Nov 11, 2018)
X-153592505-C-T		Syndactyly-telecanthus-anogenital and renal malformations syndrome	Pathogenic (Mar 01, 2008)
X-153592508-G-A			Pathogenic (May 01, 2020)
X-153592512-C-T		Syndactyly-telecanthus-anogenital and renal malformations syndrome	Likely pathogenic (Feb 01, 2022)
X-153592515-C-T			Benign (Dec 02, 2023)
X-153592524-A-G			Benign (Nov 15, 2022)
X-153592536-G-A			Benign (Sep 06, 2023)
X-153592541-G-A		not specified	Uncertain significance (May 12, 2024)
X-153592547-C-A			Likely pathogenic (Jan 06, 2016)
X-153592581-C-T			Benign (Dec 31, 2021)
X-153592590-G-A			Benign (Nov 22, 2022)
X-153592625-C-T			Uncertain significance (Oct 13, 2017)
X-153592638-C-T			Likely benign (Sep 01, 2022)
X-153592648-G-C		not specified	Uncertain significance (May 22, 2023)
X-153592661-C-A			Likely benign (Oct 08, 2022)

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

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