Table of Contents
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.
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 1 | High-confidence DLBCL gene | |
| 1 | High-confidence PMBL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
| Entity | Collection | N | mutated | Incidence | 95% CI |
|---|---|---|---|---|---|
| DLBCL | GAMBL without Reddy | 1,089 | 32 | 0.0294 | [0.0194,0.0394] |
| DLBCL | GAMBL with Reddy | 2,088 | 48 | 0.0230 | [0.0166,0.0294] |
| DLBCL | BC | 231 | 10 | 0.0433 | [0.017,0.0695] |
| DLBCL | Dana-Farber | 303 | 6 | 0.0198 | [0.0041,0.0355] |
| DLBCL | NCI | 470 | 13 | 0.0277 | [0.0128,0.0425] |
| DLBCL | Reddy | 999 | 16 | 0.0160 | [0.0082,0.0238] |
| DLBCL | DLBCL_ICGC | 85 | 3 | 0.0353 | [0,0.0745] |
Mutation pattern and selective pressure estimates
| Entity | Missense dN/dS | Nonsense dN/dS | Q value |
|---|---|---|---|
| BL | 2.9985 | 0.0000 | 1.0000 |
| FL | 0.7150 | 0.0000 | 1.0000 |
| DLBCL | 0.6829 | 1.4309 | 0.2715 |
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 |
Visualizations
Protein
View coding variants in ProteinPaint hg19 or hg38
Genome
View all variants in GenomePaint hg19 or hg38
Expression
History
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
timeline
title Publication timing
2015-02-12 : Reichel : PMBL
2018-04-12 : Schmitz : DLBCL
References
1.
Reichel J, Chadburn A, Rubinstein PG,
Giulino-Roth L, Tam W, Liu Y, Gaiolla R, Eng K, Brody J, Inghirami G,
Carlo-Stella C, Santoro A, Rahal D, Totonchy J, Elemento O, Cesarman E,
Roshal M. Flow
sorting and exome sequencing reveal the oncogenome of primary
Hodgkin and Reed-Sternberg cells. Blood.
2015 Feb 12;125(7):1061–1072.
2.
Schmitz R, Wright GW, Huang DW, Johnson CA,
Phelan JD, Wang JQ, Roulland S, Kasbekar M, Young RM, Shaffer AL, Hodson
DJ, Xiao W, Yu X, Yang Y, Zhao H, Xu W, Liu X, Zhou B, Du W, Chan WC,
Jaffe ES, Gascoyne RD, Connors JM, Campo E, Lopez-Guillermo A, Rosenwald
A, Ott G, Delabie J, Rimsza LM, Tay Kuang Wei K, Zelenetz AD, Leonard
JP, Bartlett NL, Tran B, Shetty J, Zhao Y, Soppet DR, Pittaluga S,
Wilson WH, Staudt LM. Genetics and Pathogenesis of
Diffuse Large B-Cell Lymphoma. N Engl J Med. 2018 Apr
12;378(15):1396–1407. PMCID: PMC6010183


