SETD5
History
| Entity | Tier | Description |
|---|---|---|
| 2 | relevance in PMBL/cHL/GZL not firmly established | |
| 2 | relevance in DLBCL not firmly established |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 2.49 |
| DLBCL | Schmitz cohort | 5.32 |
| DLBCL | Reddy cohort | 3.20 |
| DLBCL | Chapuy cohort | 2.14 |
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 | 0.841 | 32.108 |
| FL | No | No | 2.236 | 0.000 |
[!NOTE] First described in DLBCL in 2017 by Reddy A
[!WARNING] Mutations in this gene were reported to be inflated in the original results according to Dreval K
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
## SETD5
Expression
## References 1.
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. 2. Tiacci E, Ladewig E, Schiavoni G, Penson
A, Fortini E, Pettirossi V, Wang Y, Rosseto A, Venanzi A, Vlasevska S,
Pacini R, Piattoni S, Tabarrini A, Pucciarini A, Bigerna B, Santi A,
Gianni AM, Viviani S, Cabras A, Ascani S, Crescenzi B, Mecucci C,
Pasqualucci L, Rabadan R, Falini B. Pervasive mutations of JAK-STAT
pathway genes in classical Hodgkin lymphoma. Blood. 2018 May
31;131(22):2454–2465. PMCID: PMC6634958


