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



## Overview

This gene encodes the H2A protein, one of the core proteins comprising nucleosomes. Although relatively common in DLBCL, little is known about the function of these mutations. 


## Relevance tier by entity

|Entity|Tier|Description                           |
|:------:|:----:|--------------------------------------|
|![DLBCL](images/icons/DLBCL_tier1.png) |1   |high-confidence DLBCL gene            |
|![FL](images/icons/FL_tier1.png)    |1   |high-confidence FL gene               [@krysiakRecurrentSomaticMutations2017]|
|![BL](images/icons/BL_tier2.png)    |3   |Retired, Failed QC[@paneaWholeGenomeLandscape2019]|

## Warnings

<<Warn("The variants reported in this gene in BL failed QC")>>

**[See below ](#representative-mutations) or [the study page ](papers/paneaWholeGenomeLandscape2019.md#tier-2) for more information**

## Mutation incidence in large patient cohorts (GAMBL reanalysis)

### DLBCL
[[include:DLBCL_HIST1H2AM.md]]

### BL
[[include:BL_HIST1H2AM.md]]

### FL
[[include:FL_HIST1H2AM.md]]


## Mutation pattern and selective pressure estimates
[[include:dnds_HIST1H2AM.md]]


## HIST1H2AM Hotspots

| Chromosome |Coordinate (hg19) | ref>alt | HGVSp | 
 | :---:| :---: | :--: | :---: |
|chr6|27860660|T>C|N90D| 
|chr6|27860658|G>C|N90K| 
|chr6|27860652|C>G|E92D| 
|chr6|27860652|C>A|E92D|
|chr6|27860649|C>G|E93D| 
|chr6|27860648|G>C|L94V| 
|chr6|27860648|G>A|L94F| 
|chr6|27860644|T>C|N95S| 
|chr6|27860643|G>C|N95K| 
|chr6|27860640|C>G|K96N| 
|chr6|27860640|C>A|K96N| 
|chr6|27860639|G>C|L97V| 
|chr6|27860636|G>C|L98V| 
|chr6|27860636|G>A|L98F| 
|chr6|27860633|C>G|G99R| 
|chr6|27860632|C>G|G99A| 
|chr6|27860627|C>G|V101L| 
|chr6|27860627|C>T|V101I| 
|chr6|27860627|C>A|V101F| 
|chr6|27860624|T>A|T102S| 
|chr6|27860623|G>C|T102S| 
|chr6|27860623|G>A|T102I| 
|chr6|27860560|C>G|S123T| 
|chr6|27860559|G>C|S123R| 
| chr6 | 27860549 | C>G | A127P |
| chr6 | 27860548 | G>C | A127G |
| chr6 | 27860548 | G>A | A127V |
| chr6 | 27860542 | C>T | G129D |
| chr6 | 27860538 | C>G | K130N |

[[include:browser_HIST1H2AM.md]]