[BCL7A]
Mutation tier
| Entity | Tier | Description |
|---|---|---|
| BL | 2 | relevance in BL not firmly established |
| DLBCL | 1 | high-confidence DLBCL gene |
| FL | 1 | high-confidence FL gene |
Mutation incidence
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 5.31 |
| BL | Thomas cohort | 5.50 |
| BL | Panea cohort | 5.00 |
| DLBCL | GAMBL genomes | 7.65 |
| DLBCL | Schmitz cohort | 10.60 |
| DLBCL | Reddy cohort | 8.40 |
| DLBCL | Chapuy cohort | 6.40 |
| FL | GAMBL genomes | 13.86 |
Mutation pattern
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | Yes | 9.127 | 46.248 |
| DLBCL | Yes | Yes | 22.635 | 0.000 |
| FL | Yes | Yes | 55.348 | 146.110 |
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr12 | 122456912 | 122464036 | TSS | poised_promoter |
[!NOTE] First described in BL in 2019 by Grande BM
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19

