HIST1H2BC - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib'
csl: 'NLM.csl'
link-citations: true
HIST1H2BC
Overview
This gene encodes the H2A protein, one of the core proteins comprising nucleosomes. Although relatively common in DLBCL, little is known about the function of these mutations.
History
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
timeline
title Publication timing
2017-01-26 : Krysiak : FL
2017-10-10 : Reddy : DLBCL
2019-09-05 : Mottok : PMBL
Relevance tier by entity
Entity |
Tier |
Description |
|
2 |
relevance in PMBL/cHL/GZL not firmly established[@mottokIntegrativeGenomicAnalysis2019b] |
|
1 |
high-confidence DLBCL gene[@lohrDiscoveryPrioritizationSomatic2012a] |
|
1 |
high-confidence FL gene [@krysiakRecurrentSomaticMutations2017b] |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
Entity |
source |
frequency (%) |
DLBCL |
GAMBL genomes |
4.59 |
DLBCL |
Schmitz cohort |
5.53 |
DLBCL |
Reddy cohort |
4.30 |
DLBCL |
Chapuy cohort |
5.56 |
FL |
GAMBL genomes |
3.46 |
Mutation pattern and selective pressure estimates
Entity |
aSHM |
Significant selection |
dN/dS (missense) |
dN/dS (nonsense) |
BL |
No |
No |
2.806 |
35.161 |
DLBCL |
No |
No |
1.712 |
0.000 |
FL |
No |
No |
1.094 |
0.000 |
HIST1H2BC Hotspots
Chromosome |
Coordinate (hg19) |
ref>alt |
HGVSp |
chr6 |
26123951 |
C>T |
G61D |
chr6 |
26123944 |
C>T |
M63I |
chr6 |
26123939 |
G>A |
S65F |
chr6 |
26123939 |
G>C |
S65C |
chr6 |
26123924 |
A>G |
I70T |
chr6 |
26123923 |
T>C |
I70M |
chr6 |
26123922 |
A>C |
F71V |
chr6 |
26123920 |
A>C |
F71L |
chr6 |
26123919 |
C>G |
E72Q |
chr6 |
26123919 |
C>T |
E72K |
chr6 |
26123917 |
C>G |
E72D |
chr6 |
26123916 |
G>C |
R73G |
chr6 |
26123916 |
G>A |
R73C |
chr6 |
26123915 |
C>T |
R73H |
chr6 |
26123904 |
C>T |
E77K |
chr6 |
26123903 |
T>C |
E77G |
chr6 |
26123901 |
C>T |
A78T |
chr6 |
26123901 |
C>A |
A78S |
chr6 |
26123900 |
G>A |
A78V |
chr6 |
26123886 |
G>A |
H83Y |
chr6 |
26123881 |
G>C |
Y84* |
chr6 |
26123874 |
G>A |
R87C |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
HIST1H2BC Expression
References