NOTCH1 - morinlab/LLMPP GitHub Wiki
The relevance of NOTCH1 mutations in various malignancies has been well established. However, due to minimal support in the original primary data and very few mutations reported in subsequent BL studies, this gene is very unlikely to be relevant in BL. <<Warn("The variants reported in this gene in BL failed QC")>>
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timeline
title Publication timing
2011-07-31 : Pasqualucci : DLBCL
2012-08-27 : Rossi : MZL
2012-12-01 : Love : BL
2013-11-05 : Bea : MCL
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence MZL gene[@rossiCodingGenomeSplenic2012c] |
 |
3 | Retired, Failed QC[@loveGeneticLandscapeMutations2012] |
 |
1 | high-confidence DLBCL gene |
 |
1 | high-confidence MCL gene |
| 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 |
| 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 |
| 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
Rating
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