ATM - morinlab/LLMPP GitHub Wiki
Mutations in this gene were first described in MZL by Braggio et al,1 then in MCL by Bea et al.2 ATM mutations were later described in DLBCL by Reddy et al.3
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timeline
title Publication timing
2012 : Braggio : MZL
2013 : Beà : MCL
2017-10-10 : Reddy : DLBCL
2018-10-01 : Arthur : DLBCL
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence MZL gene[@braggioGenomicAnalysisMarginal2012] |
 |
1 | high-confidence DLBCL gene[@reddyGeneticFunctionalDrivers2017; @arthurGenomewideDiscoverySomatic2018] |
 |
1 | high-confidence MCL gene [@beaLandscapeSomaticMutations2013] |
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 6.88 |
| DLBCL | Schmitz cohort | 5.53 |
| DLBCL | Reddy cohort | 5.91 |
| DLBCL | Chapuy cohort | 4.70 |
| MCL | GAMBL genomes | 45.02 |
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 2.461 | 0.000 |
| DLBCL | No | No | 3.529 | 5.446 |
| FL | No | No | 1.679 | 6.201 |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
