CCNB3

cyclin B3, the group of Cyclins

Basic information

Region (hg38): X:50202713-50351914

Links

ENSG00000147082 ∙ NCBI:85417 ∙ OMIM:300456 ∙ HGNC:18709 ∙ Uniprot:Q8WWL7 ∙ 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 CCNB3 gene.

• not_specified (118 variants)
• not_provided (17 variants)
• Pregnancy_loss,_recurrent,_susceptibility_to,_1 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCNB3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000033031.3. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			7	6	3	16
missense	1		133	20	2	156
nonsense			13			13
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			11			11
Total	1	0	164	26	5

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCNB3	protein_coding	protein_coding	ENST00000376042	11	127546

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.859	0.141	125388	2	2	125392	0.0000160

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.840	429	481	0.892	0.0000333	9223
Missense in Polyphen		39	81.757	0.47702		1757
Synonymous	1.33	169	192	0.878	0.0000138	2608
Loss of Function	4.34	6	32.8	0.183	0.00000230	736

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000795	0.0000545
Finnish	0.0000732	0.0000464
European (Non-Finnish)	0.0000251	0.0000176
Middle Eastern	0.0000795	0.0000545
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Cyclins are positive regulatory subunits of the cyclin- dependent kinases (CDKs), and thereby play an essential role in the control of the cell cycle, notably via their destruction during cell division. Its tissue specificity suggest that it may be required during early meiotic prophase I. {ECO:0000269|PubMed:12185076}.
• Pathway: Cell cycle - Homo sapiens (human);FoxO signaling pathway - Homo sapiens (human);Cellular senescence - Homo sapiens (human);Progesterone-mediated oocyte maturation - Homo sapiens (human);Cell Cycle;miRNA Regulation of DNA Damage Response;DNA Damage Response (Consensus)

Intolerance Scores

• loftool: 0.418
• rvis_EVS: -0.44
• rvis_percentile_EVS: 24.6

Haploinsufficiency Scores

• pHI: 0.149
• hipred: N
• hipred_score: 0.465

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ccnb3

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;regulation of G2/M transition of mitotic cell cycle;positive regulation of cell cycle;cell division;meiotic cell cycle
• Cellular component: cyclin-dependent protein kinase holoenzyme complex;nucleus;cytoplasm;centrosome;nuclear speck
• Molecular function: protein kinase activity;protein binding;cyclin-dependent protein serine/threonine kinase regulator activity;protein kinase binding