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rdmorin edited this page Apr 25, 2024 · 28 revisions

[IRF8]

Mutation tier

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

Mutation incidence

Entity source frequency (%)
BL GAMBL genomes+capture 2.31
BL Thomas cohort 1.30
BL Panea cohort 6.90
DLBCL GAMBL genomes 8.03
DLBCL Schmitz cohort 10.40
DLBCL Reddy cohort 7.60
DLBCL Chapuy cohort 10.30
FL GAMBL genomes 12.01

Mutation pattern

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL Yes No 1.360 0.000
DLBCL Yes Yes 6.806 0.000
FL Yes Yes 28.663 102.572

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr16 85931918 85933977 TSS active_promoter

IRF8 Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr16 85936688 T>C Y23H
chr16 85936701 T>G I27S
chr16 85936784 T>G S55A
chr16 85936788 T>C I56T
chr16 85942602 G>T A61S
chr16 85942618 A>G K66R
chr16 85942671 T>C C84R
chr16 85942692 G>A D91N

View coding variants in ProteinPaint hg19 or hg38

image

View all variants in GenomePaint hg19 or hg38

image

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