NOTCH1
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
2 | relevance in BL not firmly established |
 |
1 | high-confidence DLBCL gene |
 |
1 | high-confidence MCL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 4.16 |
| BL | Thomas cohort | NA |
| BL | Panea cohort | NA |
| DLBCL | GAMBL genomes | 3.44 |
| DLBCL | Schmitz cohort | 8.94 |
| DLBCL | Reddy cohort | 3.40 |
| DLBCL | Chapuy cohort | 2.99 |
| MCL | GAMBL genomes | 5.21 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 1.031 | 0 |
| DLBCL | No | No | 0.792 | 0 |
| FL | No | No | 2.864 | 0 |
[!NOTE] First described in BL in 2012 by Love C. First described in DLBCL in 2011 by Pasqualucci L. First described in MCL in 2013 by Beà S
## NOTCH1 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr9 | 139401207 | C>T | V1288I |
| chr9 | 139401199 | G>C | D1290E |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
## NOTCH1
Expression 
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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