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rdmorin edited this page Apr 24, 2024 · 23 revisions

[S1PR2]

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 1.15
BL Thomas cohort 0.00
BL Panea cohort 4.00
DLBCL GAMBL genomes 4.78
DLBCL Schmitz cohort 2.10
DLBCL Reddy cohort 2.20
DLBCL Chapuy cohort 2.60
FL GAMBL genomes 6.24

Mutation pattern

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL Yes No 0.000 0.000
DLBCL Yes Yes 34.147 0.000
FL Yes Yes 36.780 339.679

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr19 10340142 10341764 TSS active_promoter

Note

First described in BL in 2014 by Muppidi JR

View coding variants in ProteinPaint hg19 or hg38

image

View all variants in GenomePaint hg19 or hg38

image

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