---
bibliography: 'morinlab.bib'
csl: 'NLM.csl'
link-citations: true
nocite: |
  @chapuyMolecularSubtypesDiffuse2018, @krysiakRecurrentSomaticMutations2017, 
---
[[_TOC_]]

## Overview
POU2AF1 is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) 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
[[include:tables/FL_POU2AF1.md]]

## 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](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr11%3A111248078%2D111250224)|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
![](images/gene_expression/POU2AF1_by_pathology.svg)
<!-- ORIGIN: krysiakRecurrentSomaticMutations2017b -->
<!-- FL: krysiakRecurrentSomaticMutations2017b -->

[[include:tables/mermaid_POU2AF1.md]]

## References