CCNB2
cyclin B2, the group of Cyclins
Basic information
Region (hg38): 15:59105126-59125045
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (50 variants)
- not_provided (5 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCNB2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000004701.4. 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 | 5 | |||||
| missense | 50 | 54 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 1 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 52 | 5 | 3 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| CCNB2 | protein_coding | protein_coding | ENST00000288207 | 9 | 19968 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 5.74e-12 | 0.211 | 125713 | 0 | 33 | 125746 | 0.000131 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.0714 | 207 | 210 | 0.986 | 0.0000104 | 2599 |
| Missense in Polyphen | 64 | 72.115 | 0.88747 | 934 | ||
| Synonymous | -0.744 | 84 | 75.8 | 1.11 | 0.00000384 | 750 |
| Loss of Function | 0.875 | 20 | 24.7 | 0.810 | 0.00000153 | 259 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000295 | 0.000294 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000218 | 0.000217 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.000124 | 0.000123 |
| Middle Eastern | 0.000218 | 0.000217 |
| South Asian | 0.000164 | 0.000163 |
| Other | 0.000164 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Essential for the control of the cell cycle at the G2/M (mitosis) transition.;
- Pathway
- Cell cycle - Homo sapiens (human);Oocyte meiosis - Homo sapiens (human);p53 signaling pathway - Homo sapiens (human);FoxO signaling pathway - Homo sapiens (human);HTLV-I infection - Homo sapiens (human);Cellular senescence - Homo sapiens (human);Progesterone-mediated oocyte maturation - Homo sapiens (human);Cell Cycle;miRNA Regulation of DNA Damage Response;Mitotic G2-G2-M phases;Retinoblastoma (RB) in Cancer;TGF-beta Signaling Pathway;DNA Damage Response;estrogen responsive protein efp controls cell cycle and breast tumors growth;G2/M DNA replication checkpoint;G2/M Checkpoints;Polo-like kinase mediated events;Cell Cycle Checkpoints;Cyclin A/B1/B2 associated events during G2/M transition;Nuclear Pore Complex (NPC) Disassembly;TGF_beta_Receptor;Regulation of PLK1 Activity at G2/M Transition;Golgi Cisternae Pericentriolar Stack Reorganization;The role of GTSE1 in G2/M progression after G2 checkpoint;G2/M Transition;Mitotic G2-G2/M phases;Activation of NIMA Kinases NEK9, NEK6, NEK7;Nuclear Envelope Breakdown;Mitotic Prophase;Condensation of Prometaphase Chromosomes;Mitotic Prometaphase;M Phase;Cell Cycle;Resolution of Sister Chromatid Cohesion;Cell Cycle, Mitotic;Validated transcriptional targets of deltaNp63 isoforms;FOXM1 transcription factor network
(Consensus)
Recessive Scores
- pRec
- 0.177
Intolerance Scores
- loftool
- 0.842
- rvis_EVS
- 0.13
- rvis_percentile_EVS
- 63.36
Haploinsufficiency Scores
- pHI
- 0.869
- hipred
- Y
- hipred_score
- 0.515
- ghis
- 0.615
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.474
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ccnb2
- Phenotype
- growth/size/body region phenotype; endocrine/exocrine gland phenotype; immune system phenotype; reproductive system 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); hematopoietic system phenotype;
Gene ontology
- Biological process
- regulation of cyclin-dependent protein serine/threonine kinase activity;G2/M transition of mitotic cell cycle;mitotic cell cycle;in utero embryonic development;protein phosphorylation;mitotic nuclear envelope disassembly;regulation of mitotic nuclear division;positive regulation of cell population proliferation;regulation of growth;T cell homeostasis;positive regulation of cell cycle;thymus development;cell division;regulation of cell cycle
- Cellular component
- cyclin-dependent protein kinase holoenzyme complex;nucleus;cytoplasm;centrosome;cytosol;microtubule cytoskeleton;membrane
- Molecular function
- protein kinase activity;cyclin-dependent protein serine/threonine kinase activity;protein binding;cyclin-dependent protein serine/threonine kinase regulator activity;protein kinase binding;cadherin binding