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rdmorin edited this page Jun 21, 2024 · 19 revisions

bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true

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

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
timeline
    title Publication timing
      2015-02-12 : Reichel : PMBL
      2018-04-12 : Schmitz : DLBCL
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Relevance tier by entity

Entity Tier Description
PMBL 1 high-confidence PMBL/cHL/GZL gene[@reichelFlowSortingExome2015a]
DLBCL 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

References

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