MEF2C - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @arthurGenomewideDiscoverySomatic2018, @laurentFollicularLymphomaComprises2024
Overview
MEF2C 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. Mutations in this gene were first described in DLBCL by Arthur et al.[@arthurGenomewideDiscoverySomatic2018]
Relevance tier by entity
include:tables/table1_MEF2C.md
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
DLBCL
Mutation pattern and selective pressure estimates
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr5 | 88131209 | 88174373 | TSS-3 | active_promoter |
| chr5 | 88174374 | 88182243 | TSS-2 | active_promoter |
| chr5 | 88182244 | 88206620 | TSS-1 | active_promoter |
include:tables/browser_MEF2C.md
Expression
include:tables/mermaid_MEF2C.md