BCR - morinlab/LLMPP GitHub Wiki
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@lohrDiscoveryPrioritizationSomatic2012,
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).
Relevance tier by entity
include:tables/table1_BCR.md
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
include:tables/dnds_BCR.md
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 |
include:tables/browser_BCR.md
Expression
include:tables/mermaid_BCR.md
References