BACH2
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| BL | 2-a | aSHM target; Although recurrent, the relevance of mutations in BL is tenuous |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 1.85 |
| BL | Thomas cohort | 0.40 |
| BL | Panea cohort | 5.00 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | No | 0.652 | 0.000 |
| DLBCL | Yes | No | 0.949 | 0.000 |
| FL | Yes | No | 0.000 | 28.997 |
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr6 | 90981034 | 91016134 | TSS | NA |
[!NOTE] First described in BL in 2019 by Panea RI
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
## BACH2
Expression 
Citing
If you use the information or data from this site, please cite
Krysta Coyle, Kostiantyn Dreval, Daniel Hodson and Ryan D. Morin. Audit of B-cell cancer genes. Blood Adv (2025) 9 (8): 2019–2031.
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