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rdmorin edited this page Apr 24, 2024 · 26 revisions

[BCL7A]

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 5.31
BL Thomas cohort 5.50
BL Panea cohort 5.00
DLBCL GAMBL genomes 7.65
DLBCL Schmitz cohort 10.60
DLBCL Reddy cohort 8.40
DLBCL Chapuy cohort 6.40
FL GAMBL genomes 13.86

Mutation pattern

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL Yes Yes 9.127 46.248
DLBCL Yes Yes 22.635 0.000
FL Yes Yes 55.348 146.110

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr12 122456912 122464036 TSS poised_promoter

Note

First described in BL in 2019 by Grande BM

View coding variants in ProteinPaint hg19 or hg38

image

View all variants in GenomePaint hg19

image

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