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rdmorin edited this page Jul 3, 2024 · 16 revisions

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
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Relevance tier by entity

Entity Tier Description
DLBCL 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

References

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