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rdmorin edited this page Apr 25, 2024 · 23 revisions

[BCR]

Mutation tier

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

Mutation incidence

Entity source frequency (%)
BL GAMBL genomes+capture 6.00
BL Thomas cohort 6.40
BL Panea cohort 10.90
DLBCL GAMBL genomes 4.97
DLBCL Schmitz cohort 6.40
DLBCL Reddy cohort 3.90
DLBCL Chapuy cohort 4.30

Mutation pattern

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL Yes No 2.733 2.641
DLBCL Yes No 1.249 3.642
FL Yes No 7.439 0.000

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr22 23522060 23528313 TSS NA

Note

First described in BL in 2019 by Panea RI

BCR Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr22 23523350 A>G K68R
chr22 23523351 G>T K68N
chr22 23523353 G>A S69N
chr22 23523353 G>C S69T
chr22 23523356 A>T Y70F
chr22 23523359 A>C D71A
chr22 23523374 G>A G76D

View coding variants in ProteinPaint hg19 or hg38

image

View all variants in GenomePaint hg19 or hg38

image

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