WEE1
WEE1 G2 checkpoint kinase
Basic information
Region (hg38): 11:9573670-9593457
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 WEE1 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 | 34 | 35 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 34 | 0 | 1 |
Variants in WEE1
This is a list of pathogenic ClinVar variants found in the WEE1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 11-9573946-A-G | not specified | Uncertain significance (Jan 26, 2023) | ||
| 11-9573976-G-T | not specified | Uncertain significance (Apr 23, 2024) | ||
| 11-9573991-A-G | not specified | Uncertain significance (Jan 17, 2024) | ||
| 11-9573992-C-T | not specified | Uncertain significance (Mar 28, 2024) | ||
| 11-9574040-A-T | not specified | Uncertain significance (Apr 20, 2023) | ||
| 11-9574063-G-A | not specified | Uncertain significance (Dec 14, 2022) | ||
| 11-9574165-T-G | not specified | Uncertain significance (Nov 03, 2022) | ||
| 11-9574175-C-T | not specified | Uncertain significance (Sep 15, 2021) | ||
| 11-9574186-A-C | not specified | Uncertain significance (Oct 05, 2021) | ||
| 11-9574196-A-C | not specified | Uncertain significance (Jan 18, 2022) | ||
| 11-9574367-G-A | not specified | Uncertain significance (Jul 14, 2021) | ||
| 11-9574399-G-A | not specified | Uncertain significance (Jul 26, 2022) | ||
| 11-9574427-C-G | not specified | Uncertain significance (Dec 20, 2023) | ||
| 11-9574456-C-T | not specified | Uncertain significance (Jan 10, 2023) | ||
| 11-9574499-A-T | not specified | Uncertain significance (Sep 15, 2021) | ||
| 11-9574501-A-T | not specified | Uncertain significance (Sep 15, 2021) | ||
| 11-9574508-A-G | not specified | Uncertain significance (Sep 15, 2021) | ||
| 11-9575927-G-T | not specified | Uncertain significance (Jun 24, 2022) | ||
| 11-9575939-G-T | Benign (Jun 19, 2018) | |||
| 11-9575978-A-G | not specified | Uncertain significance (Oct 05, 2021) | ||
| 11-9575986-T-G | not specified | Uncertain significance (Jan 09, 2024) | ||
| 11-9576006-A-T | not specified | Uncertain significance (Aug 19, 2023) | ||
| 11-9576270-G-A | not specified | Uncertain significance (Jun 04, 2024) | ||
| 11-9576566-A-C | not specified | Uncertain significance (Jan 09, 2024) | ||
| 11-9577255-A-G | not specified | Uncertain significance (Feb 22, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| WEE1 | protein_coding | protein_coding | ENST00000450114 | 11 | 19777 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 1.00 | 0.000270 | 125370 | 0 | 2 | 125372 | 0.00000798 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.64 | 153 | 277 | 0.553 | 0.0000141 | 4167 |
| Missense in Polyphen | 56 | 126.2 | 0.44373 | 1625 | ||
| Synonymous | 1.15 | 83 | 97.5 | 0.852 | 0.00000511 | 1274 |
| Loss of Function | 4.72 | 1 | 27.9 | 0.0358 | 0.00000164 | 362 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000945 | 0.0000940 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00 | 0.00 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Acts as a negative regulator of entry into mitosis (G2 to M transition) by protecting the nucleus from cytoplasmically activated cyclin B1-complexed CDK1 before the onset of mitosis by mediating phosphorylation of CDK1 on 'Tyr-15'. Specifically phosphorylates and inactivates cyclin B1-complexed CDK1 reaching a maximum during G2 phase and a minimum as cells enter M phase. Phosphorylation of cyclin B1-CDK1 occurs exclusively on 'Tyr-15' and phosphorylation of monomeric CDK1 does not occur. Its activity increases during S and G2 phases and decreases at M phase when it is hyperphosphorylated. A correlated decrease in protein level occurs at M/G1 phase, probably due to its degradation.;
- Pathway
- Cell cycle - Homo sapiens (human);Cell Cycle;Retinoblastoma (RB) in Cancer;G1 to S cell cycle control;cdc25 and chk1 regulatory pathway in response to dna damage;Factors involved in megakaryocyte development and platelet production;Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex;G2/M DNA damage checkpoint;G2/M DNA replication checkpoint;G2/M Checkpoints;Polo-like kinase mediated events;Cell Cycle Checkpoints;Cyclin E associated events during G1/S transition ;Mitotic G1-G1/S phases;Cyclin A:Cdk2-associated events at S phase entry;S Phase;cell cycle: g2/m checkpoint;Cyclin A/B1/B2 associated events during G2/M transition;IL-7 signaling;Hemostasis;rb tumor suppressor/checkpoint signaling in response to dna damage;G2/M Transition;Mitotic G2-G2/M phases;JAK STAT pathway and regulation;G1/S Transition;EPO signaling;Cell Cycle;VEGF;Cell Cycle, Mitotic;PLK1 signaling events
(Consensus)
Recessive Scores
- pRec
- 0.243
Intolerance Scores
- loftool
- rvis_EVS
- 0.5
- rvis_percentile_EVS
- 79.89
Haploinsufficiency Scores
- pHI
- 0.545
- hipred
- Y
- hipred_score
- 0.825
- ghis
- 0.519
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.996
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Wee1
- Phenotype
- embryo 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); cellular phenotype; homeostasis/metabolism phenotype;
Zebrafish Information Network
- Gene name
- wee1
- Affected structure
- whole organism
- Phenotype tag
- abnormal
- Phenotype quality
- viability
Gene ontology
- Biological process
- G2/M transition of mitotic cell cycle;microtubule cytoskeleton organization;mitotic cell cycle checkpoint;peptidyl-tyrosine phosphorylation;establishment of cell polarity;neuron projection morphogenesis;cell division;negative regulation of G1/S transition of mitotic cell cycle
- Cellular component
- nucleus;nucleoplasm;nucleolus;cytoplasm
- Molecular function
- magnesium ion binding;protein kinase activity;protein tyrosine kinase activity;non-membrane spanning protein tyrosine kinase activity;protein binding;ATP binding;kinase activity