EZR
History
| Entity | Tier | Description |
|---|---|---|
 |
2 | relevance in PMBL/cHL/GZL not firmly established |
 |
2-a | aSHM target; Although recurrent, the relevance of mutations in DLBCL is tenuous |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 1.34 |
| DLBCL | Schmitz cohort | 2.13 |
| DLBCL | Reddy cohort | 1.70 |
| DLBCL | Chapuy cohort | 2.56 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | No | 1.425 | 16.138 |
| DLBCL | Yes | No | 2.869 | 14.423 |
| FL | Yes | No | 3.576 | 0.000 |
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr6 | 159237903 | 159240216 | TSS | NA |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
## EZR
Expression 
## References 1.
Desch AK, Hartung K, Botzen A, Brobeil A, Rummel M, Kurch L, Georgi T,
Jox T, Bielack S, Burdach S, Classen CF, Claviez A, Debatin KM, Ebinger
M, Eggert A, Faber J, Flotho C, Frühwald M, Graf N, Jorch N, Kontny U,
Kramm C, Kulozik A, Kühr J, Sykora KW, Metzler M, Müller HL, Nathrath M,
Nüßlein T, Paulussen M, Pekrun A, Reinhardt D, Reinhard H, Rössig C,
Sauerbrey A, Schlegel PG, Schneider DT, Scheurlen W, Schweigerer L,
Simon T, Suttorp M, Vorwerk P, Schmitz R, Kluge R, Mauz-Körholz C,
Körholz D, Gattenlöhner S, Bräuninger A. Genotyping circulating tumor
DNA of pediatric Hodgkin lymphoma. Leukemia. 2020 Jan;34(1):151–166.
PMID: 31431735
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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