[ITPKB]
Mutation tier
| Entity | Tier |
|---|---|
| DLBCL | 1 |
| FL | 1 |
Mutation incidence
| Entity | study | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 6.50 |
| DLBCL | Schmitz cohort | 6.80 |
| DLBCL | Reddy cohort | 6.70 |
| DLBCL | Chapuy cohort | 9.40 |
| FL | GAMBL genomes | 3.23 |
Mutation pattern
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | No | 0.587 | 0.000 |
| DLBCL | Yes | Yes | 4.294 | 15.744 |
| FL | Yes | No | 6.541 | 0.000 |
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr1 | 226864857 | 226873452 | intron | weak_enhancer |
| chr1 | 226920563 | 226927885 | TSS | active_promoter |
| chr1 | 226921088 | 226927982 | intron-1 | enhancer |
[!NOTE] First described in DLBCL in 2018 by Schmitz R
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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