DUSP2 - morinlab/LLMPP GitHub Wiki
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DUSP2
Overview
DUSP2 functions as a negative regulator of MAPK signaling, particularly affecting the ERK1/2 pathway.
DUSP2 mutations have been reported in nodular lymphocyte predominant Hodgkin lymphoma (NLPHL), T-cell/histiocyte-rich large B-cell lymphoma (T/HRLBCL)[@schuhmacherJUNBDUSP2SGK12019b; @hartmannHighlyRecurrentMutations2016b] and they are relatively frequent in DLBCL.
DUSP2 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.
These mutations are associated with the ST2 genetic subgroup of DLBCL.
This gene has some recurrent sites of mutations (hot spots).
The mutation pattern in DLBCL implies the preferential accumulation of inactivating mutations.
History
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timeline
title Publication timing
2012-03-06 : Lohr : DLBCL
2013-08-15 : Morin : DLBCL
2017-10-10 : Reddy : DLBCL
2018-04-12 : Schmitz : DLBCL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence PMBL/cHL/GZL gene[@dunsCharacterizationDLBCLPMBL2021b] |
 |
1 | aSHM target and high-confidence DLBCL gene [@morinMutationalStructuralAnalysis2013; @lohrDiscoveryPrioritizationSomatic2012a] |
 |
2 | aSHM target; Although recurrent, the relevance of mutations in FL is tenuous |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 10.13 |
| DLBCL | Schmitz cohort | 12.55 |
| DLBCL | Reddy cohort | 9.71 |
| DLBCL | Chapuy cohort | 4.27 |
| FL | GAMBL genomes | 2.31 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | No | 1.258 | 17.913 |
| DLBCL | Yes | No | 1.537 | 12.012 |
| FL | Yes | No | 3.206 | 0.000 |
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr2 | 96808901 | 96811913 | intron-1 | enhancer |
DUSP2 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr2 | 96810877 | C>G | D73H |
| chr2 | 96810865 | G>A | R77W |
| chr2 | 96810842 | C>G | E84D |
| chr2 | 96810841 | G>C | L85V |
| chr2 | 96810730 | G>A | P122S |
| chr2 | 96810717 | T>C | Y126C |
| chr2 | 96810706 | C>T | G130R |
| chr2 | 96810597 | C>T | C138Y |
| chr2 | 96810582 | C>T | C143Y |
| chr2 | 96810574 | C>T | A146T |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
DUSP2 Expression
