bibliography: 'morinlab.bib'
csl: 'NLM.csl'
link-citations: true
Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.1
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timeline
title Publication timing
2021-05-05 : Hübschmann : FL
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Entity |
Tier |
Description |
|
2-a |
aSHM target; Although recurrent, the relevance of mutations in DLBCL is tenuous |
|
2-a |
aSHM target; Although recurrent, the relevance of mutations in FL is tenuous [@hubschmannMutationalMechanismsShaping2021b] |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
Entity |
source |
frequency (%) |
DLBCL |
GAMBL genomes |
3.06 |
DLBCL |
Schmitz cohort |
3.40 |
DLBCL |
Reddy cohort |
2.20 |
DLBCL |
Chapuy cohort |
2.56 |
FL |
GAMBL genomes |
5.77 |
Mutation pattern and selective pressure estimates
Entity |
aSHM |
Significant selection |
dN/dS (missense) |
dN/dS (nonsense) |
BL |
Yes |
No |
0.000 |
34.096 |
DLBCL |
Yes |
No |
4.311 |
46.640 |
FL |
Yes |
Yes |
15.566 |
93.829 |
chr_name |
hg19_start |
hg19_end |
region |
regulatory_comment |
chr1 |
31229012 |
31232011 |
TSS |
NA |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
SP194065
SP116642
SP194216
SP193040
SP193656
SP116709