WEE1 - morinlab/LLMPP GitHub Wiki
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WEE1
Overview
WEE1 is one of a number of genes affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus.
History
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timeline
title Publication timing
2015-02-12 : Reichel : PMBL
2018-04-12 : Schmitz : DLBCL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence PMBL/cHL/GZL gene[@reichelFlowSortingExome2015a] |
 |
1-a | aSHM target and high-confidence DLBCL gene[@schmitzGeneticsPathogenesisDiffuse2018a] |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 4.02 |
| DLBCL | Schmitz cohort | 2.77 |
| DLBCL | Reddy cohort | 1.60 |
| DLBCL | Chapuy cohort | 1.71 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | No | 4.336 | 0.000 |
| DLBCL | Yes | Yes | 8.073 | 15.059 |
| FL | Yes | No | 4.041 | 0.000 |
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr11 | 9595246 | 9599502 | intron | NA |
WEE1 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr11 | 9595762 | G>C | L94F |
| chr11 | 9595887 | G>A | S136N |
| chr11 | 9595888 | C>G | S136R |
| chr11 | 9595889 | T>G | S137A |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
WEE1 Expression
