TOX - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true
TOX
History
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
timeline
title Publication timing
2017-10-10 : Reddy : DLBCL
2018-04-12 : Schmitz : DLBCL
2018-05-01 : Chapuy : DLBCL
2021-05-05 : Hubschmann : DLBCL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence DLBCL gene [@reddyGeneticFunctionalDrivers2017; @schmitzGeneticsPathogenesisDiffuse2018a; @chapuyMolecularSubtypesDiffuse2018b; @hubschmannMutationalMechanismsShaping2021b] |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 4.21 |
| DLBCL | Schmitz cohort | 5.53 |
| DLBCL | Reddy cohort | 4.00 |
| DLBCL | Chapuy cohort | 5.13 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 1.503 | 17.955 |
| DLBCL | No | No | 3.481 | 12.292 |
| FL | No | No | 1.975 | 21.081 |
TOX Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr8 | 60031445 | C>G | K34N |
| chr8 | 60031445 | C>T | K34= |
| chr8 | 60031446 | T>G | K34T |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
TOX Expression
