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rdmorin edited this page May 19, 2024 · 22 revisions

GNAI2

Relevance tier by entity

Entity Tier Description
BL 1 high-confidence BL gene
DLBCL 1 high-confidence DLBCL gene
FL 1 high-confidence FL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
BL GAMBL genomes+capture 11.32
BL Thomas cohort 9.70
BL Panea cohort 8.90
DLBCL GAMBL genomes 5.35
DLBCL Schmitz cohort 6.38
DLBCL Reddy cohort 1.90
DLBCL Chapuy cohort 3.85
FL GAMBL genomes 4.16

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL No Yes 18.304 0.000
DLBCL No Yes 32.161 57.623
FL No Yes 55.205 0.000

Note

First described in BL in 2019 by Grande BM. First described in DLBCL in 2013 by Morin RD

GNAI2 Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr3 50289532 G>A G40D
chr3 50289546 G>T G45W
chr3 50289547 G>A G45E
chr3 50289553 G>A S47N
chr3 50289554 C>G S47R
chr3 50289555 A>C T48P
chr3 50289568 A>G Q52R
chr3 50293686 T>G L176R
chr3 50293695 G>A R179H
chr3 50293698 T>A V180E
chr3 50293703 A>G T182A

View coding variants in ProteinPaint hg19 or hg38

image

View all variants in GenomePaint hg19 or hg38

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