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

ID3

History

ID3 was first reported as mutated in BL in 2012 by Richter et al.[@richterRecurrentMutationID32012a] The existence of mutations in DLBCL were described in 2012 by Schmitz et al[@schmitzBurkittLymphomaPathogenesis2012] and later in MZL by Spina et al.[@spinaGeneticsNodalMarginal2016b]

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    timeline
        title Publication timing
          2012-10-04 : Schmitz : DLBCL
          2012-11-11 : Richter : BL
          2016 : Spina : MZL

Relevance tier by entity

Entity	Tier	Description
	1	high-confidence BL gene [@richterRecurrentMutationID32012a]
	1	high-confidence MZL gene [@spinaGeneticsNodalMarginal2016b]
	2	Although recurrent, the relevance of mutations in DLBCL is tenuous[@schmitzBurkittLymphomaPathogenesis2012]

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity	source	frequency (%)
BL	GAMBL genomes+capture	45.50
BL	Thomas cohort	47.00
BL	Panea cohort	31.70
DLBCL	GAMBL genomes	1.53
DLBCL	Schmitz cohort	4.68
DLBCL	Reddy cohort	3.50
DLBCL	Chapuy cohort	0.85
FL	GAMBL genomes	0.92

Mutation pattern and selective pressure estimates

Entity	aSHM	Significant selection	dN/dS (missense)	dN/dS (nonsense)
BL	Yes	Yes	42.419	439.808
DLBCL	Yes	Yes	0.000	30.520
FL	Yes	No	3.497	0.000

aSHM regions

chr_name	hg19_start	hg19_end	region	regulatory_comment
chr1	23885584	23885835	TSS	NA

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

ID3 Expression

References