CCNB1
cyclin B1, the group of Cyclins
Basic information
Region (hg38): 5:69167135-69178245
Previous symbols: [ "CCNB" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCNB1 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 | 15 | 16 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 15 | 1 | 0 |
Variants in CCNB1
This is a list of pathogenic ClinVar variants found in the CCNB1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 5-69167279-C-G | not specified | Uncertain significance (Aug 28, 2023) | ||
| 5-69167920-A-G | not specified | Uncertain significance (Aug 10, 2024) | ||
| 5-69167926-G-C | not specified | Uncertain significance (Jun 29, 2023) | ||
| 5-69167935-G-A | not specified | Uncertain significance (Dec 01, 2022) | ||
| 5-69167950-G-A | not specified | Uncertain significance (Aug 30, 2022) | ||
| 5-69167957-C-T | not specified | Uncertain significance (Jan 26, 2023) | ||
| 5-69167977-C-T | not specified | Uncertain significance (Dec 07, 2024) | ||
| 5-69167996-C-T | not specified | Uncertain significance (Dec 15, 2023) | ||
| 5-69168053-T-C | not specified | Likely benign (Jun 02, 2024) | ||
| 5-69168070-A-G | not specified | Uncertain significance (Oct 21, 2024) | ||
| 5-69168071-T-C | not specified | Uncertain significance (Nov 24, 2024) | ||
| 5-69168072-G-T | not specified | Uncertain significance (Aug 02, 2021) | ||
| 5-69168227-C-T | not specified | Uncertain significance (Oct 19, 2024) | ||
| 5-69168239-C-T | not specified | Uncertain significance (May 30, 2023) | ||
| 5-69168299-C-G | not specified | Uncertain significance (Mar 28, 2024) | ||
| 5-69171395-T-G | not specified | Uncertain significance (Oct 20, 2024) | ||
| 5-69171433-C-T | not specified | Uncertain significance (Apr 17, 2024) | ||
| 5-69174311-G-A | not specified | Uncertain significance (Dec 13, 2022) | ||
| 5-69174394-T-G | not specified | Uncertain significance (Apr 08, 2022) | ||
| 5-69174404-A-G | not specified | Uncertain significance (Sep 30, 2024) | ||
| 5-69175066-C-T | not specified | Uncertain significance (Oct 16, 2024) | ||
| 5-69175082-A-C | not specified | Uncertain significance (Sep 30, 2024) | ||
| 5-69175091-G-A | not specified | Uncertain significance (Sep 10, 2024) | ||
| 5-69175443-C-T | not specified | Uncertain significance (Jan 29, 2024) | ||
| 5-69175448-T-A | not specified | Uncertain significance (Aug 21, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| CCNB1 | protein_coding | protein_coding | ENST00000256442 | 9 | 11236 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.160 | 0.839 | 125734 | 0 | 13 | 125747 | 0.0000517 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.169 | 223 | 230 | 0.969 | 0.0000108 | 2830 |
| Missense in Polyphen | 32 | 46.753 | 0.68445 | 666 | ||
| Synonymous | -0.167 | 84 | 82.1 | 1.02 | 0.00000386 | 863 |
| Loss of Function | 3.00 | 5 | 19.2 | 0.261 | 8.10e-7 | 249 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000868 | 0.0000868 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000723 | 0.0000703 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000710 | 0.0000653 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Essential for the control of the cell cycle at the G2/M (mitosis) transition. {ECO:0000269|PubMed:17495531, ECO:0000269|PubMed:17495533}.;
- Pathway
- Cell cycle - Homo sapiens (human);Oocyte meiosis - Homo sapiens (human);p53 signaling pathway - Homo sapiens (human);FoxO signaling pathway - Homo sapiens (human);Cellular senescence - Homo sapiens (human);Progesterone-mediated oocyte maturation - Homo sapiens (human);Cell Cycle;AMP-activated Protein Kinase (AMPK) Signaling;miRNA Regulation of DNA Damage Response;Mitotic G2-G2-M phases;Retinoblastoma (RB) in Cancer;ATM Signaling Pathway;G1 to S cell cycle control;DNA Damage Response;Transcriptional regulation by RUNX2;Gene expression (Transcription);sonic hedgehog receptor ptc1 regulates cell cycle;estrogen responsive protein efp controls cell cycle and breast tumors growth;stathmin and breast cancer resistance to antimicrotubule agents;il-2 receptor beta chain in t cell activation;cyclins and cell cycle regulation;how progesterone initiates the oocyte maturation;regulation of cell cycle progression by plk3;Generic Transcription Pathway;Hedgehog;Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex;MASTL Facilitates Mitotic Progression;RNA Polymerase II Transcription;G2/M DNA damage checkpoint;G2/M DNA replication checkpoint;G2/M Checkpoints;Polo-like kinase mediated events;Cell Cycle Checkpoints;p73 transcription factor network;E2F mediated regulation of DNA replication;Mitotic G1-G1/S phases;akap95 role in mitosis and chromosome dynamics;cell cycle: g2/m checkpoint;Cyclin A/B1/B2 associated events during G2/M transition;Nuclear Pore Complex (NPC) Disassembly;TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest;Regulation of PLK1 Activity at G2/M Transition;TP53 Regulates Transcription of Cell Cycle Genes;Golgi Cisternae Pericentriolar Stack Reorganization;The role of GTSE1 in G2/M progression after G2 checkpoint;G2/M Transition;Mitotic G2-G2/M phases;Condensation of Prophase Chromosomes;Activation of NIMA Kinases NEK9, NEK6, NEK7;G1/S Transition;E2F-enabled inhibition of pre-replication complex formation;Depolymerisation of the Nuclear Lamina;Nuclear Envelope Breakdown;Mitotic Prophase;Condensation of Prometaphase Chromosomes;C-MYB transcription factor network;Transcriptional Regulation by TP53;Mitotic Prometaphase;Direct p53 effectors;M Phase;Phosphorylation of Emi1;Regulation of APC/C activators between G1/S and early anaphase;Phosphorylation of the APC/C;APC/C:Cdc20 mediated degradation of Cyclin B;APC/C:Cdc20 mediated degradation of mitotic proteins;Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins;APC/C-mediated degradation of cell cycle proteins;Regulation of mitotic cell cycle;Cell Cycle;Resolution of Sister Chromatid Cohesion;Cell Cycle, Mitotic;Validated targets of C-MYC transcriptional activation;PLK1 signaling events;FOXM1 transcription factor network;FoxO family signaling
(Consensus)
Recessive Scores
- pRec
- 0.102
Intolerance Scores
- loftool
- 0.573
- rvis_EVS
- -0.18
- rvis_percentile_EVS
- 39.95
Haploinsufficiency Scores
- pHI
- 0.999
- hipred
- Y
- hipred_score
- 0.772
- ghis
- 0.696
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.959
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ccnb1
- Phenotype
- renal/urinary 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);
Zebrafish Information Network
- Gene name
- ccnb1
- Affected structure
- head
- Phenotype tag
- abnormal
- Phenotype quality
- flat
Gene ontology
- Biological process
- regulation of cyclin-dependent protein serine/threonine kinase activity;G2/M transition of mitotic cell cycle;mitotic cell cycle;oocyte maturation;in utero embryonic development;negative regulation of protein phosphorylation;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;mitotic spindle organization;mitotic nuclear envelope disassembly;mitotic metaphase plate congression;regulation of mitotic nuclear division;spermatogenesis;positive regulation of cell population proliferation;response to mechanical stimulus;negative regulation of gene expression;positive regulation of G2/M transition of mitotic cell cycle;anaphase-promoting complex-dependent catabolic process;positive regulation of mRNA 3'-end processing;positive regulation of histone phosphorylation;tissue regeneration;positive regulation of cyclin-dependent protein serine/threonine kinase activity;positive regulation of cell cycle;positive regulation of mitotic cell cycle;response to DDT;positive regulation of fibroblast proliferation;digestive tract development;cell division;regulation of cell cycle;positive regulation of attachment of spindle microtubules to kinetochore;ventricular cardiac muscle cell development;positive regulation of cardiac muscle cell proliferation;regulation of chromosome condensation;protein-containing complex assembly;cellular response to iron(III) ion;cellular response to fatty acid;cellular response to organic cyclic compound;cellular response to hypoxia;regulation of mitotic cell cycle spindle assembly checkpoint;positive regulation of mitochondrial ATP synthesis coupled electron transport;histone H3-S10 phosphorylation involved in chromosome condensation
- Cellular component
- cyclin-dependent protein kinase holoenzyme complex;spindle pole;condensed nuclear chromosome outer kinetochore;nucleus;nucleoplasm;cytoplasm;mitochondrial matrix;centrosome;cytosol;membrane;cyclin B1-CDK1 complex
- Molecular function
- protein kinase activity;cyclin-dependent protein serine/threonine kinase activity;patched binding;protein binding;cyclin-dependent protein serine/threonine kinase regulator activity;protein kinase binding;histone kinase activity;ubiquitin-like protein ligase binding;cyclin-dependent protein serine/threonine kinase activator activity