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BCR
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).
Entity | Tier | Description |
---|---|---|
1-a | aSHM target and high-confidence DLBCL gene |
Entity | source | frequency (%) |
---|---|---|
DLBCL | GAMBL genomes | 4.97 |
DLBCL | Schmitz cohort | 6.38 |
DLBCL | Reddy cohort | 3.90 |
DLBCL | Chapuy cohort | 4.27 |
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 |
chr_name | hg19_start | hg19_end | region | regulatory_comment |
---|---|---|---|---|
chr22 | 23522060 | 23528313 | TSS | NA |
Note
First described in BL in 2019 by Panea RI
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 |
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