Table of Contents

Experimental Evidence

Driver mutations affecting this gene in FL have been experimentally demonstrated to cause a gain of function (GOF).schmidtMutationsMAP2K1Are2017?

Relevance tier by entity

Entity Tier Description
DLBCL 2 Role of MAP2K1 mutations in DLBCL requires confirmation
FL 1 High-confidence FL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 26 0.0239 [0.0148,0.0329]
DLBCL GAMBL with Reddy 2,088 48 0.0230 [0.0166,0.0294]
DLBCL BC 231 1 0.0043 [0,0.0128]
DLBCL Dana-Farber 303 9 0.0297 [0.0106,0.0488]
DLBCL NCI 470 15 0.0319 [0.016,0.0478]
DLBCL Reddy 999 22 0.0220 [0.0129,0.0311]
DLBCL DLBCL_ICGC 85 1 0.0118 [0,0.0347]

FL

pathology Collection N mutated Incidence CI
FL GAMBL without Crouch 642 10 0.0156 [0.006,0.0252]
FL GAMBL with Crouch 1,189 29 0.0244 [0.0156,0.0332]
FL BC 379 6 0.0158 [0.0033,0.0284]
FL Kalmbach 164 4 0.0244 [8e-04,0.048]
FL Crouch 547 19 0.0347 [0.0194,0.0501]
FL FL_ICGC 99 0 0.0010 [0,0.0073]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 3.2115 0.000 1.0000
FL 12.2045 13.905 0.7989
DLBCL 2.2673 0.000 0.0037

MAP2K1 Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr15 66727441 T>C F53L
chr15 66727454 A>C K57T

Visualizations

Protein

View coding variants in ProteinPaint hg19 or hg38

Genome

View all variants in GenomePaint hg19 or hg38

Expression

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References

1.
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
2.
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

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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