POU2AF1
Overview
POU2AF1 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. ## History
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence MZL gene |
 |
1-a | high-confidence DLBCL gene, hypermutated |
 |
1-a | high-confidence FL gene, hypermutated |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 5.16 |
| DLBCL | Schmitz cohort | 2.34 |
| DLBCL | Reddy cohort | 3.30 |
| DLBCL | Chapuy cohort | 5.56 |
| FL | GAMBL genomes | 12.24 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | No | 0.000 | 0.000 |
| DLBCL | Yes | No | 6.798 | 74.689 |
| FL | Yes | Yes | 0.000 | 659.924 |
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr11 | 111248078 | 111250224 | TSS | active_promoter |
## POU2AF1 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr11 | 111249894 | C>T | W3* |
| chr11 | 111249899 | G>A | L2F |
| chr11 | 111249900 | C>T | M1? |
| chr11 | 111275352 | T>C | R6G |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
## POU2AF1
Expression 
## References 1.
Krysiak K, Gomez F, White BS, Matlock M, Miller CA, Trani L, Fronick CC,
Fulton RS, Kreisel F, Cashen AF, Carson KR, Berrien-Elliott MM, Bartlett
NL, Griffith M, Griffith OL, Fehniger TA. Recurrent somatic mutations
affecting B-cell receptor signaling pathway genes in follicular
lymphoma. Blood. 2017 Jan 26;129(4):473–483. PMCID: PMC5270390
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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