ITPKB
Overview
ITPKB is one of a number of genes affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus.
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| DLBCL | 1-a | aSHM target and high-confidence DLBCL gene |
| FL | 1-a | aSHM target and high-confidence FL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 6.69 |
| DLBCL | Schmitz cohort | 6.81 |
| DLBCL | Reddy cohort | 6.71 |
| DLBCL | Chapuy cohort | 9.40 |
| FL | GAMBL genomes | 3.23 |
Mutation pattern and selective pressure estimates
| 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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