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.
Relevance tier by entity
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Mutation incidence in large patient cohorts (GAMBL reanalysis)
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Mutation pattern and selective pressure estimates
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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 |
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Expression
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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