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ST6GAL1

rdmorin edited this page Jun 21, 2024 · 9 revisions

bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true

ST6GAL1

History

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timeline
    title Publication timing
      2018-10-01 : Arthur : DLBCL
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Relevance tier by entity

Entity Tier Description
DLBCL 2-a aSHM target; Although recurrent, the relevance of mutations in DLBCL is tenuous [@arthurGenomewideDiscoverySomatic2018]

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 1.15
DLBCL Schmitz cohort 1.49
DLBCL Reddy cohort 0.90
DLBCL Chapuy cohort 0.85

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL Yes No 4.123 0.000
DLBCL Yes Yes 2.511 33.311
FL Yes No 0.000 0.000

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr3 186647943 186650177 TSS-2 NA
chr3 186739628 186740875 TSS-1 active_promoter
chr3 186709494 186721749 intron-2 NA
chr3 186782522 186784438 intron-1 strong_enhancer

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

ST6GAL1 Expression

References

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