IGLL5 - morinlab/LLMPP GitHub Wiki

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IGLL5

History

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timeline
    title Publication timing
      2019-08-20 : Desch : PMBL
      2019-09-26 : Panea : BL
      2023-07-26 : Russler : FL

Relevance tier by entity

Entity Tier Description
PMBL 2 relevance in PMBL/cHL/GZL not firmly established[@deschGenotypingCirculatingTumor2020]
BL 2-a aSHM target; Although recurrent, the relevance of mutations in BL is tenuous [@paneaWholeGenomeLandscape2019]
DLBCL 2-a aSHM target; Although recurrent, the relevance of mutations in DLBCL is tenuous
FL 2-a aSHM target; Although recurrent, the relevance of mutations in FL is tenuous [@russler-germainMutationsAssociatedProgression2023b]

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
BL GAMBL genomes+capture 26.33
BL Thomas cohort 25.00
BL Panea cohort 23.80
DLBCL GAMBL genomes 41.49
DLBCL Schmitz cohort 35.96
DLBCL Reddy cohort 16.12
DLBCL Chapuy cohort 8.97
FL GAMBL genomes 35.33

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL Yes Yes 7.850 3.210
DLBCL Yes Yes 3.376 5.315
FL Yes Yes 4.830 9.846

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr22 23229554 23232042 TSS NA

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

IGLL5 Expression

References