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

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2018-10-01 : Arthur : DLBCL

Relevance tier by entity

Entity Tier Description
DLBCL 1-a aSHM target and high-confidence DLBCL gene1
FL 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

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

Citing

If you use the information or data from this site, please cite

Krysta Coyle, Kostiantyn Dreval, Daniel Hodson and Ryan D. Morin. Audit of B-cell cancer genes. Blood Adv (2025) 9 (8): 2019–2031.

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