[ITPKB]
Mutation tier
| Entity | Tier | Description |
|---|---|---|
| DLBCL | 1 | high-confidence DLBCL gene |
| FL | 1 | high-confidence FL gene |
Mutation incidence
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 6.69 |
| 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
## ITPKB Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr1 | 226925148 | G>C | Y4* |
| chr1 | 226925148 | G>T | Y4* |
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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