RFTN1 - morinlab/LLMPP GitHub Wiki


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

RFTN1

History

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timeline
    title Publication timing
      2018-10-01 : Arthur : DLBCL
      2021-07-15 : Duns : PMBL

Relevance tier by entity

Entity Tier Description
PMBL 2 relevance in PMBL/cHL/GZL not firmly established[@dunsCharacterizationDLBCLPMBL2021b]
MZL 2 relevance in MZL not firmly established
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 4.59
DLBCL Schmitz cohort 5.96
DLBCL Reddy cohort 4.40
DLBCL Chapuy cohort 4.70

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL Yes No 1.080 0.000
DLBCL Yes No 3.636 3.809
FL Yes No 2.622 0.000

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr3 16546433 16556786 TSS active_promoter-strong_enhancer

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

RFTN1 Expression

References