PRDM1 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib'
csl: 'NLM.csl'
link-citations: true
PRDM1
History
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
timeline
title Publication timing
2006-02-02 : Pasqualucci : DLBCL
2013-01-01 : Zhang : DLBCL
2013-08-15 : Morin : DLBCL
2017-10-10 : Reddy : DLBCL
2018-04-12 : Schmitz : DLBCL
2018-05-01 : Chapuy : DLBCL
Relevance tier by entity
Entity |
Tier |
Description |
|
1 |
high-confidence DLBCL gene [@pasqualucciInactivationPRDM1BLIMP12006a; @zhangGeneticHeterogeneityDiffuse2013; @morinMutationalStructuralAnalysis2013; @reddyGeneticFunctionalDrivers2017] |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
Entity |
source |
frequency (%) |
BL |
GAMBL genomes+capture |
2.31 |
BL |
Thomas cohort |
0.80 |
BL |
Panea cohort |
5.90 |
DLBCL |
GAMBL genomes |
6.88 |
DLBCL |
Schmitz cohort |
10.21 |
DLBCL |
Reddy cohort |
5.41 |
DLBCL |
Chapuy cohort |
8.55 |
Mutation pattern and selective pressure estimates
Entity |
aSHM |
Significant selection |
dN/dS (missense) |
dN/dS (nonsense) |
BL |
No |
No |
0.746 |
0.000 |
DLBCL |
No |
Yes |
4.912 |
23.497 |
FL |
No |
No |
0.000 |
0.000 |
PRDM1 Hotspots
Chromosome |
Coordinate (hg19) |
ref>alt |
HGVSp |
chr6 |
106536207 |
T>A |
C58* |
chr6 |
106536207 |
T>G |
C58W |
chr6 |
106536209 |
C>T |
T59I |
chr6 |
106536256 |
A>T |
T75S |
chr6 |
106536262 |
G>T |
V77F |
chr6 |
106536324 |
G>A |
E97= |
chr6 |
106536324 |
G>C |
E97D |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
PRDM1 Expression
References