MEF2C - morinlab/LLMPP GitHub Wiki
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MEF2C
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.
History
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timeline
title Publication timing
2018-10-01 : Arthur : DLBCL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
1-a | aSHM target and high-confidence DLBCL gene[@arthurGenomewideDiscoverySomatic2018] |
 |
1-a | aSHM target and high-confidence FL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 3.44 |
| DLBCL | Schmitz cohort | 1.91 |
| DLBCL | Reddy cohort | 1.70 |
| DLBCL | Chapuy cohort | 2.99 |
| FL | GAMBL genomes | 6.24 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | No | 3.687 | 0.000 |
| DLBCL | Yes | No | 9.617 | 13.957 |
| FL | Yes | Yes | 36.127 | 0.000 |
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 |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
MEF2C Expression
