BACH2

History

Mutations in this gene were first described in BL in 2019 by Grande et al.1

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timeline
    title Publication timing
      2019-03-21 : Grande : BL

Relevance tier by entity

Entity Tier Description
BL 2-a aSHM target; Although recurrent, the relevance of mutations in BL is tenuous [@grandeGenomewideDiscoverySomatic2019]

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
BL GAMBL genomes+capture 1.85
BL Thomas cohort 0.40
BL Panea cohort 5.00

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL Yes No 0.652 0.000
DLBCL Yes No 0.949 0.000
FL Yes No 0.000 28.997

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr6 90981034 91016134 TSS NA

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

BACH2 Expression

References