[RFTN1]
Mutation tier
| Entity | Tier | Description |
|---|---|---|
| DLBCL | 2-a | aSHM target; Although recurrent, the relevance of mutations in DLBCL is tenuous |
Mutation incidence
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 4.59 |
| DLBCL | Schmitz cohort | 5.96 |
| DLBCL | Reddy cohort | 4.40 |
| DLBCL | Chapuy cohort | 4.70 |
Mutation pattern
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | No | 1.080 | 0.000 |
| DLBCL | Yes | No | 3.636 | 3.809 |
| FL | Yes | No | 2.622 | 0.000 |
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr3 | 16546433 | 16556786 | TSS | active_promoter-strong_enhancer |
[!NOTE] First described in DLBCL in 2018 by Arthur SE
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
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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