POU2AF1 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @chapuyMolecularSubtypesDiffuse2018, @krysiakRecurrentSomaticMutations2017,
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.
Experimental Evidence
Driver mutations affecting this gene in DLBCL have been experimentally demonstrated to cause a reduction or loss of function (LOF).[@gonzalez-rinconUnravelingTransformationFollicular2019]
Relevance tier by entity
include:tables/table1_POU2AF1.md
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
include:tables/DLBCL_POU2AF1.md
FL
Mutation pattern and selective pressure estimates
include:tables/dnds_POU2AF1.md
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 |
include:tables/browser_POU2AF1.md
Expression
include:tables/mermaid_POU2AF1.md