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Ryan Morin edited this page May 20, 2024 · 29 revisions

MTOR

Relevance tier by entity

Entity Tier Description
BL 2 relevance in BL not firmly established
DLBCL 1 high-confidence DLBCL gene

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

Note

First described in BL in 2019 by Panea RI. First described in DLBCL in 2013 by Zhang J

MTOR Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr1 11169376 A>T I2500N

View coding variants in ProteinPaint hg19 or hg38

image

View all variants in GenomePaint hg19 or hg38

image

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