SMARCA4
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| BL | 1 | high-confidence BL gene |
| DLBCL | 1 | high-confidence DLBCL gene |
| FL | 1 | high-confidence FL gene |
| MCL | 1 | high-confidence MCL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 22.63 |
| BL | Thomas cohort | 17.80 |
| BL | Panea cohort | 18.80 |
| DLBCL | GAMBL genomes | 3.25 |
| DLBCL | Schmitz cohort | 2.98 |
| DLBCL | Reddy cohort | 3.30 |
| DLBCL | Chapuy cohort | 2.14 |
| FL | GAMBL genomes | 4.16 |
| MCL | GAMBL genomes | 4.74 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | Yes | 13.014 | 7.632 |
| DLBCL | No | No | 3.876 | 0.000 |
| FL | No | No | 11.081 | 0.000 |
[!NOTE] First described in BL in 2012 by Love C. First described in DLBCL in 2013 by Zhang J. First described in FL in 2023 by Russler-Germain DA. First described in MCL in 2020 by Nadeu F
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
## SMARCA4
Expression

