BCR - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib'
csl: 'NLM.csl'
link-citations: true
Overview
BCR (Breakpoint Cluster Region Protein) is one of a number of genes affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. This gene has some recurrent sites of mutations (hot spots).
History
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timeline
title Publication timing
2012-03-06 : Lohr : DLBCL
Relevance tier by entity
Entity |
Tier |
Description |
|
1-a |
aSHM target and high-confidence DLBCL gene [@lohrDiscoveryPrioritizationSomatic2012a] |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
Entity |
source |
frequency (%) |
DLBCL |
GAMBL genomes |
4.97 |
DLBCL |
Schmitz cohort |
6.38 |
DLBCL |
Reddy cohort |
3.90 |
DLBCL |
Chapuy cohort |
4.27 |
Mutation pattern and selective pressure estimates
Entity |
aSHM |
Significant selection |
dN/dS (missense) |
dN/dS (nonsense) |
BL |
Yes |
No |
2.733 |
2.641 |
DLBCL |
Yes |
No |
1.249 |
3.642 |
FL |
Yes |
No |
7.439 |
0.000 |
aSHM regions
chr_name |
hg19_start |
hg19_end |
region |
regulatory_comment |
chr22 |
23522060 |
23528313 |
TSS |
NA |
BCR Hotspots
Chromosome |
Coordinate (hg19) |
ref>alt |
HGVSp |
chr22 |
23523350 |
A>G |
K68R |
chr22 |
23523351 |
G>T |
K68N |
chr22 |
23523353 |
G>A |
S69N |
chr22 |
23523353 |
G>C |
S69T |
chr22 |
23523356 |
A>T |
Y70F |
chr22 |
23523359 |
A>C |
D71A |
chr22 |
23523374 |
G>A |
G76D |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
BCR Expression
References