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
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence MZL gene |
 |
1 | high-confidence DLBCL gene, hypermutatedchapuyMolecularSubtypesDiffuse2018b? |
 |
1 | high-confidence FL gene, hypermutatedkrysiakRecurrentSomaticMutations2017b? |
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
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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