NOTCH1 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @rossiCodingGenomeSplenic2012, @loveGeneticLandscapeMutations2012,
Overview
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.
Experimental Evidence
Driver mutations affecting this gene in DLBCL have been experimentally demonstrated to cause a gain of function (GOF).[@ryanCellRegulomeLinks2017]
Relevance tier by entity
include:tables/table1_NOTCH1.md
Warnings
<<Warn("The variants reported in this gene in BL failed QC")>>
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
include:tables/DLBCL_NOTCH1.md
MCL
BL
Mutation pattern and selective pressure estimates
NOTCH1 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr9 | 139401207 | C>T | V1288I |
| chr9 | 139401199 | G>C | D1290E |
include:tables/browser_NOTCH1.md
Expression
Representative Mutations
BL
Rating
★ ☆ ☆ ☆ ☆
All Mutations
BL
include:tables/mermaid_NOTCH1.md