POU2AF1 - morinlab/LLMPP GitHub Wiki

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POU2AF1

Overview

POU2AF1 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
      2017-01-26 : Krysiak : FL
      2018-05-01 : Chapuy : DLBCL

Relevance tier by entity

Entity Tier Description
MZL 1 high-confidence MZL gene
DLBCL 1 high-confidence DLBCL gene, hypermutated[@chapuyMolecularSubtypesDiffuse2018b]
FL 1 high-confidence FL gene, hypermutated [@krysiakRecurrentSomaticMutations2017b]

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 5.16
DLBCL Schmitz cohort 2.34
DLBCL Reddy cohort 3.30
DLBCL Chapuy cohort 5.56
FL GAMBL genomes 12.24

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 6.798 74.689
FL Yes Yes 0.000 659.924

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr11 111248078 111250224 TSS active_promoter

POU2AF1 Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr11 111249894 C>T W3*
chr11 111249899 G>A L2F
chr11 111249900 C>T M1?
chr11 111275352 T>C R6G

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

POU2AF1 Expression

References