IKZF3
Overview
IKZF3 (IKAROS family zinc finger 3, also known as AIOLOS) is a transcription factor involved in regulating B-cell development and function. Mutations in IKZF3 can lead to transcriptional dysregulation and contribute to the pathogenesis of B-cell neoplasms. IKZF3 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 |
|---|---|---|
| BL | 2-a | aSHM target; Although recurrent, the relevance of mutations in BL is tenuous |
| DLBCL | 1-a | aSHM target and high-confidence DLBCL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 1.62 |
| BL | Thomas cohort | 0.80 |
| BL | Panea cohort | 3.00 |
| DLBCL | GAMBL genomes | 4.78 |
| DLBCL | Schmitz cohort | 4.47 |
| DLBCL | Reddy cohort | 3.90 |
| DLBCL | Chapuy cohort | 4.27 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | No | 1.552 | 0 |
| DLBCL | Yes | No | 10.924 | 0 |
| FL | Yes | No | 7.180 | 0 |
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr17 | 37928959 | 37940119 | TSS-1 | NA |
| chr17 | 38015776 | 38024832 | TSS-2 | NA |
[!NOTE] First described in BL in 2019 by Panea RI. First described in DLBCL in 2013 by Morin RD
## IKZF3 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr17 | 37947782 | T>C | N160S |
| chr17 | 37947776 | A>C | L162R |
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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