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rdmorin edited this page Jun 21, 2024 · 14 revisions

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

IRF1

History

Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.1

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timeline
    title Publication timing
      2021-05-05 : Hübschmann : 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 [@hubschmannMutationalMechanismsShaping2021b]

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 2.29
DLBCL Schmitz cohort 1.91
DLBCL Reddy cohort 1.90
DLBCL Chapuy cohort 2.56

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL Yes No 2.409 0.000
DLBCL Yes No 2.468 39.294
FL Yes No 6.465 0.000

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr5 131823933 131826458 TSS active_promoter

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

IRF1 Expression

All Mutations

SP116697 SP116606 SP59304

References

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