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Ryan Morin edited this page May 20, 2024 · 13 revisions

PAX5

Relevance tier by entity

Entity Tier Description
DLBCL 2-a aSHM target; Although recurrent, the relevance of mutations in DLBCL is tenuous

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 3.63
DLBCL Schmitz cohort 3.19
DLBCL Reddy cohort 1.90
DLBCL Chapuy cohort 3.42

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL Yes No 6.750 0
DLBCL Yes Yes 14.089 0
FL Yes No 10.963 0

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr9 37023396 37027663 intron-1 intron
chr9 37029849 37037154 TSS-1 active_promoter
chr9 37369209 37372160 distal-enhancer-1 enhancer
chr9 37382267 37385854 distal-enhancer-2 enhancer
chr9 37395932 37409239 distal-enhancer-3 enhancer

Note

First described in DLBCL in 2001 by Pasqualucci L

View coding variants in ProteinPaint hg19 or hg38

image

View all variants in GenomePaint hg19 or hg38

image

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