CCNG1

cyclin G1, the group of Cyclins

Basic information

Region (hg38): 5:163437569-163448199

Previous symbols: [ "CCNG" ]

Links

ENSG00000113328

∙ NCBI:900 ∙ OMIM:601578 ∙ HGNC:1592 ∙ Uniprot:P51959 ∙ 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 CCNG1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCNG1 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						0
missense			11 clinvar			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	0	0

Variants in CCNG1

This is a list of pathogenic ClinVar variants found in the CCNG1 region.

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

Position	Phenotype	Significance	ClinVar
5-163439320-G-A	not specified	Uncertain significance (Feb 05, 2024)	3139928
5-163439345-A-G	not specified	Uncertain significance (Dec 19, 2023)	3139929
5-163439367-T-G	not specified	Uncertain significance (Oct 04, 2024)	3487427
5-163439387-G-A	not specified	Uncertain significance (Jul 11, 2023)	2610387
5-163439408-T-G	not specified	Uncertain significance (Nov 03, 2022)	2322208
5-163439451-C-A	not specified	Uncertain significance (Mar 15, 2024)	3264563
5-163441162-T-A	not specified	Uncertain significance (Sep 10, 2024)	3487426
5-163441165-G-A	not specified	Uncertain significance (Mar 23, 2022)	2204227
5-163441202-C-T	not specified	Uncertain significance (Feb 16, 2023)	2458086
5-163441240-G-C	not specified	Uncertain significance (Nov 27, 2024)	3487425
5-163441254-G-C	Hereditary breast ovarian cancer syndrome • not specified	Uncertain significance (Nov 02, 2021)	981806
5-163441264-G-A	not specified	Uncertain significance (Dec 31, 2023)	3139927
5-163441320-G-C	not specified	Uncertain significance (Sep 15, 2021)	2299337
5-163442062-G-T	not specified	Uncertain significance (Oct 06, 2024)	2372701
5-163442130-A-G	not specified	Uncertain significance (May 08, 2023)	2544820

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCNG1	protein_coding	protein_coding	ENST00000340828	5	8583

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000732	0.929	125717	0	29	125746	0.000115

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.761	120	146	0.823	0.00000675	1924
Missense in Polyphen		27	38.505	0.7012		536
Synonymous	0.313	52	54.9	0.946	0.00000253	564
Loss of Function	1.60	7	13.3	0.526	6.44e-7	184

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000445	0.000445
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000881	0.0000879
Middle Eastern	0.0000544	0.0000544
South Asian	0.000164	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: May play a role in growth regulation. Is associated with G2/M phase arrest in response to DNA damage. May be an intermediate by which p53 mediates its role as an inhibitor of cellular proliferation (By similarity). {ECO:0000250}.;
Pathway: p53 signaling pathway - Homo sapiens (human);MicroRNAs in cancer - Homo sapiens (human);miRNA Regulation of DNA Damage Response;miR-targeted genes in epithelium - TarBase;miR-targeted genes in muscle cell - TarBase;Spinal Cord Injury;Regulation of TP53 Expression and Degradation;Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription;Regulation of TP53 Degradation;Regulation of TP53 Expression and Degradation;Regulation of TP53 Activity;Transcriptional Regulation by TP53;Direct p53 effectors;p53 pathway (Consensus)

Recessive Scores

pRec: 0.216

Intolerance Scores

loftool: 0.274
rvis_EVS: -0.01
rvis_percentile_EVS: 53.51

Haploinsufficiency Scores

pHI: 0.648
hipred: Y
hipred_score: 0.798
ghis: 0.553

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.801

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Ccng1
Phenotype: neoplasm; 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); liver/biliary system phenotype; digestive/alimentary phenotype; cellular phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process: regulation of cyclin-dependent protein serine/threonine kinase activity;mitotic cell cycle;protein phosphorylation;regulation of mitotic nuclear division;positive regulation of cell population proliferation;positive regulation of cell cycle;cell division
Cellular component: cyclin-dependent protein kinase holoenzyme complex;nucleus;nucleoplasm;cytoplasm
Molecular function: protein kinase activity;protein binding;cyclin-dependent protein serine/threonine kinase regulator activity;protein kinase binding