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

## Overview
MEF2C 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.


## Relevance tier by entity

|Entity|Tier|Description               |
|:------:|:----:|--------------------------|
|![DLBCL](images/icons/DLBCL_tier1.png) |1 | aSHM target and high-confidence DLBCL gene[@arthurGenomewideDiscoverySomatic2018]|
|![FL](images/icons/FL_tier1.png)    |1 | aSHM target and high-confidence FL gene   |

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

[[include:DLBCL_MEF2C.md]]
[[include:DLBCL_MEF2C.md]]


## Mutation pattern and selective pressure estimates

[[include:dnds_MEF2C.md]]

## aSHM regions

|chr_name|hg19_start|hg19_end|region                                                                                     |regulatory_comment|
|:--------:|:----------:|:--------:|:-------------------------------------------------------------------------------------------:|:------------------:|
|chr5    |88131209  |88174373|[TSS-3](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr5%3A88131209%2D88174373)|active_promoter   |
|chr5    |88174374  |88182243|[TSS-2](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr5%3A88174374%2D88182243)|active_promoter   |
|chr5    |88182244  |88206620|[TSS-1](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr5%3A88182244%2D88206620)|active_promoter   |


[[include:browser_MEF2C.md]]

## Expression
![](images/gene_expression/MEF2C_by_pathology.svg)

[[include:mermaid_MEF2C.md]]

## References

<!-- ORIGIN: arthurGenomewideDiscoverySomatic2018 -->
<!-- DLBCL: arthurGenomewideDiscoverySomatic2018 -->