MTOR - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true
MTOR
Overview
Although mutations in MTOR have been reported in DLBCL and some BL, their role in lymphomagenesis has not been thoroughly studied.
<<Warn("The variants reported in this gene in BL failed QC")>>
History
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
timeline
title Publication timing
2013-01-01 : Zhang : DLBCL
2017-10-10 : Reddy : DLBCL
2019-09-26 : Panea : BL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
3 | Retired, Failed QC[@paneaWholeGenomeLandscape2019] |
 |
1 | high-confidence DLBCL gene[@zhangGeneticHeterogeneityDiffuse2013; @reddyGeneticFunctionalDrivers2017] |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 4.62 |
| BL | Thomas cohort | 3.40 |
| BL | Panea cohort | 10.90 |
| DLBCL | GAMBL genomes | 4.02 |
| DLBCL | Schmitz cohort | 4.04 |
| DLBCL | Reddy cohort | 2.40 |
| DLBCL | Chapuy cohort | 2.14 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 1.204 | 0 |
| DLBCL | No | No | 5.630 | 0 |
| FL | No | No | 1.429 | 0 |
MTOR Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr1 | 11169376 | A>T | I2500N |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
MTOR Expression
Representative Mutations
BL
Rating
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Rating
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