POU2AF1 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib'
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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](https://github.com/morinlab/LLMPP/wiki/images/icons/MZL_tier1.png) |
1 |
high-confidence MZL gene |
![DLBCL](https://github.com/morinlab/LLMPP/wiki/images/icons/DLBCL_tier1.png) |
1 |
high-confidence DLBCL gene, hypermutated[@chapuyMolecularSubtypesDiffuse2018b] |
![FL](https://github.com/morinlab/LLMPP/wiki/images/icons/FL_tier1.png) |
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
![](https://github.com/morinlab/LLMPP/wiki/images/proteinpaint/POU2AF1_NM_006235.svg)
View all variants in GenomePaint hg19 or hg38
![](https://github.com/morinlab/LLMPP/wiki/images/proteinpaint/POU2AF1.svg)
POU2AF1 Expression
![](https://github.com/morinlab/LLMPP/wiki/images/gene_expression/POU2AF1_by_pathology.svg)
References