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
BL 3 Retired, Failed QC[@paneaWholeGenomeLandscape2019]
DLBCL 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 ★ ☆ ☆ ☆ ☆

Rating ★ ☆ ☆ ☆ ☆

References