Table of Contents
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.1
Relevance tier by entity
Cannot include /table1_MEF2C.md - does not exist yet
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | Collection | N | mutated | Incidence | 95% CI |
|---|---|---|---|---|---|
| DLBCL | GAMBL without Reddy | 1,089 | 31 | 0.0285 | [0.0186,0.0383] |
| DLBCL | GAMBL with Reddy | 2,088 | 48 | 0.0230 | [0.0166,0.0294] |
| DLBCL | BC | 231 | 6 | 0.0260 | [0.0055,0.0465] |
| DLBCL | Dana-Farber | 303 | 10 | 0.0330 | [0.0129,0.0531] |
| DLBCL | NCI | 470 | 9 | 0.0191 | [0.0068,0.0315] |
| DLBCL | Reddy | 999 | 17 | 0.0170 | [0.009,0.025] |
| DLBCL | DLBCL_ICGC | 85 | 6 | 0.0706 | [0.0161,0.125] |
| Entity | Collection | N | mutated | Incidence | 95% CI |
|---|---|---|---|---|---|
| DLBCL | GAMBL without Reddy | 1,089 | 31 | 0.0285 | [0.0186,0.0383] |
| DLBCL | GAMBL with Reddy | 2,088 | 48 | 0.0230 | [0.0166,0.0294] |
| DLBCL | BC | 231 | 6 | 0.0260 | [0.0055,0.0465] |
| DLBCL | Dana-Farber | 303 | 10 | 0.0330 | [0.0129,0.0531] |
| DLBCL | NCI | 470 | 9 | 0.0191 | [0.0068,0.0315] |
| DLBCL | Reddy | 999 | 17 | 0.0170 | [0.009,0.025] |
| DLBCL | DLBCL_ICGC | 85 | 6 | 0.0706 | [0.0161,0.125] |
Mutation pattern and selective pressure estimates
| Entity | Missense dN/dS | Nonsense dN/dS | Q value |
|---|---|---|---|
| BL | 3.4609 | 0.0000 | 1.0000 |
| FL | 15.6105 | 24.5680 | 0.0000 |
| DLBCL | 0.9600 | 0.1825 | 0.3531 |
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 |
Cannot include /browser_MEF2C.md - does not exist yet
Expression
Cannot include /mermaid_MEF2C.md - does not exist yet
References
1.
Arthur SE, Jiang A, Grande BM, Alcaide M,
Cojocaru R, Rushton CK, Mottok A, Hilton LK, Lat PK, Zhao EY, Culibrk L,
Ennishi D, Jessa S, Chong L, Thomas N, Pararajalingam P, Meissner B,
Boyle M, Davidson J, Bushell KR, Lai D, Farinha P, Slack GW, Morin GB,
Shah S, Sen D, Jones SJM, Mungall AJ, Gascoyne RD, Audas TE, Unrau P,
Marra MA, Connors JM, Steidl C, Scott DW, Morin RD. Genome-wide
discovery of somatic regulatory variants in diffuse large B-cell lymphoma. Nat Commun. 2018 Oct 1;9(1):4001.
PMCID: PMC6167379
2.
Laurent C, Trisal P, Tesson B, Seth S, Beyou A,
Roulland S, Lesne B, Van Acker N, Cerapio JP, Chartier L, Guille A,
Stokes M, Huang C, Huet S, Gandhi A, Morschauser F, Xerri L. Follicular
lymphoma comprises germinal center-like and memory-like molecular
subtypes with prognostic significance. Blood. 2024 Oct;