EBF1 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.
Mutation tier
| 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 |
| FL | 1-a | aSHM target and high-confidence FL gene |
Mutation incidence
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 2.08 |
| BL | Thomas cohort | 1.30 |
| BL | Panea cohort | 5.90 |
| DLBCL | GAMBL genomes | 8.99 |
| DLBCL | Schmitz cohort | 10.85 |
| DLBCL | Reddy cohort | 8.81 |
| DLBCL | Chapuy cohort | 12.82 |
| FL | GAMBL genomes | 8.55 |
Mutation pattern
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | No | 2.304 | 0.000 |
| DLBCL | Yes | Yes | 11.910 | 66.114 |
| FL | Yes | Yes | 17.826 | 91.742 |
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr5 | 158500476 | 158532769 | TSS | active_promoter |
## EBF1 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr5 | 158526467 | C>T | S7N |
| chr5 | 158526456 | T>C | S11G |
| chr5 | 158526413 | T>C | N25S |
| chr5 | 158511720 | T>C | N147D |
| chr5 | 158511714 | C>T | E149K |
| chr5 | 158511705 | G>C | R152G |
| chr5 | 158511698 | A>C | L154W |
| chr5 | 158511677 | C>A | C161F |
| chr5 | 158500470 | C>T | R163H |
| chr5 | 158500468 | A>G | C164R |
| chr5 | 158500467 | C>G | C164S |
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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