SETD1B
History
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence DLBCL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 5.16 |
| DLBCL | Schmitz cohort | 12.77 |
| DLBCL | Reddy cohort | 5.81 |
| DLBCL | Chapuy cohort | NA |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 0.000 | 0.000 |
| DLBCL | No | No | 2.645 | 24.278 |
| FL | No | Yes | 4.979 | 128.132 |
## SETD1B Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr12 | 122242755 | C>A | P38T |
| chr12 | 122243045 | G>A | E66K |
| chr12 | 122243058 | A>G | D70G |
| chr12 | 122243060 | C>T | P71S |
| chr12 | 122265950 | G>A | A1858T |
| chr12 | 122265953 | C>T | R1859C |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
SETD1B Expression
References
- Reddy A, Zhang J, Davis NS, Moffitt AB, Love CL, Waldrop A, Leppa S, Pasanen A, Meriranta L, Karjalainen-Lindsberg ML, Nørgaard P, Pedersen M, Gang AO, Høgdall E, Heavican TB, Lone W, Iqbal J, Qin Q, Li G, Kim SY, Healy J, Richards KL, Fedoriw Y, Bernal-Mizrachi L, Koff JL, Staton AD, Flowers CR, Paltiel O, Goldschmidt N, Calaminici M, Clear A, Gribben J, Nguyen E, Czader MB, Ondrejka SL, Collie A, Hsi ED, Tse E, Au-Yeung RKH, Kwong YL, Srivastava G, Choi WWL, Evens AM, Pilichowska M, Sengar M, Reddy N, Li S, Chadburn A, Gordon LI, Jaffe ES, Levy S, Rempel R, Tzeng T, Happ LE, Dave T, Rajagopalan D, Datta J, Dunson DB, Dave SS. Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma. Cell. 2017 Oct;171(2):481-494.e15.
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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