bibliography: 'morinlab.bib'
csl: 'NLM.csl'
link-citations: true
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
timeline
title Publication timing
2017-07-27 : Jallades : MZL
2021-05-05 : Hübschmann : DLBCL
2023-02-03 : Thomas : BL
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Entity |
Tier |
Description |
![MZL](https://github.com/morinlab/LLMPP/wiki/images/icons/MZL_tier2.png) |
2 |
relevance in MZL not firmly established[@jalladesExomeSequencingIdentifies2017] |
![BL](https://github.com/morinlab/LLMPP/wiki/images/icons/BL_tier1.png) |
1 |
high-confidence BL gene [@thomasGeneticSubgroupsInform2023] |
![DLBCL](https://github.com/morinlab/LLMPP/wiki/images/icons/DLBCL_tier2.png) |
2 |
relevance in DLBCL not firmly established[@hubschmannMutationalMechanismsShaping2021b] |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
Entity |
source |
frequency (%) |
BL |
GAMBL genomes+capture |
6.70 |
BL |
Thomas cohort |
6.80 |
BL |
Panea cohort |
11.90 |
DLBCL |
GAMBL genomes |
4.59 |
DLBCL |
Schmitz cohort |
5.11 |
DLBCL |
Reddy cohort |
3.70 |
DLBCL |
Chapuy cohort |
2.14 |
Mutation pattern and selective pressure estimates
Entity |
aSHM |
Significant selection |
dN/dS (missense) |
dN/dS (nonsense) |
BL |
No |
No |
3.429 |
0 |
DLBCL |
No |
No |
1.812 |
0 |
FL |
No |
No |
3.487 |
0 |
Chromosome |
Coordinate (hg19) |
ref>alt |
HGVSp |
chr12 |
968467 |
G>A |
R486Q |
View coding variants in ProteinPaint hg19 or hg38
![](https://github.com/morinlab/LLMPP/wiki/images/proteinpaint/WNK1_NM_018979.svg)
View all variants in GenomePaint hg19 or hg38
![](https://github.com/morinlab/LLMPP/wiki/images/proteinpaint/WNK1.svg)
![](https://github.com/morinlab/LLMPP/wiki/images/gene_expression/WNK1_by_pathology.svg)
SP192988
SP193025
SP193684
SP194228
SP59344
SP59452