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rdmorin edited this page Jul 5, 2024 · 17 revisions

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

PIM2

Overview

PIM2 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
      2017-10-10 : Reddy : DLBCL
2018-04-12 : Schmitz : DLBCL
2018-10-01 : Arthur : DLBCL
     
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Relevance tier by entity

Entity Tier Description
PMBL 1 high-confidence PMBL/cHL/GZL gene[@reichelFlowSortingExome2015a]
DLBCL 1 aSHM target and high-confidence DLBCL gene[@reddyGeneticFunctionalDrivers2017; @schmitzGeneticsPathogenesisDiffuse2018a; @arthurGenomewideDiscoverySomatic2018]

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 3.44
DLBCL Schmitz cohort 6.38
DLBCL Reddy cohort 4.00
DLBCL Chapuy cohort 3.85

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL Yes No 0.000 0.000
DLBCL Yes No 1.908 14.378
FL Yes No 0.000 62.405

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chrX 48774756 48776255 TSS active_promoter

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

PIM2 Expression

References

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