MAP2K1
History
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timeline
title Publication timing
2015-03-01 : Shin : DLBCL
2016-08-25 : Louissaint : FL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
2 | relevance in DLBCL not firmly established1 |
 |
1 | high-confidence FL gene2 |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 1.34 |
| DLBCL | Schmitz cohort | 3.19 |
| DLBCL | Reddy cohort | 2.20 |
| DLBCL | Chapuy cohort | 2.14 |
| FL | GAMBL genomes | 1.39 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 4.318 | 0 |
| DLBCL | No | No | 11.932 | 0 |
| FL | No | No | 5.696 | 0 |
MAP2K1 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr15 | 66727441 | T>C | F53L |
| chr15 | 66727454 | A>C | K57T |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
MAP2K1 Expression
References
1.
Shin
SY, Lee ST, Kim HJ, Ki CS, Jung CW, Kim JW, Kim SH. BRAF
V600E and MAP2K1 mutations in hairy cell leukemia
and splenic marginal zone lymphoma cases. Ann Lab Med. 2015
Mar;35(2):257–259. PMCID: PMC4330180
2.
Louissaint A, Schafernak KT, Geyer JT, Kovach
AE, Ghandi M, Gratzinger D, Roth CG, Paxton CN, Kim S, Namgyal C, Morin
R, Morgan EA, Neuberg DS, South ST, Harris MH, Hasserjian RP, Hochberg
EP, Garraway LA, Harris NL, Weinstock DM. Pediatric-type nodal
follicular lymphoma: A biologically distinct lymphoma with frequent
MAPK pathway mutations. Blood. 2016 Aug
25;128(8):1093–1100. PMCID: PMC5000844