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

NOTCH2

History

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timeline
    title Publication timing
2012-08-27 : Rossi : MZL
2013-01-01 : Zhang : DLBCL
2013-11-05 : Bea : MCL
2017-10-10 : Reddy : DLBCL
2018-04-12 : Schmitz : DLBCL
2018-05-01 : Chapuy : DLBCL
2021-05-05 : Hubschmann : DLBCL

Relevance tier by entity

Entity	Tier	Description
	1	high-confidence MZL gene[@rossiCodingGenomeSplenic2012c]
	1	high-confidence DLBCL gene [@zhangGeneticHeterogeneityDiffuse2013]
	1	high-confidence MCL gene [@beaLandscapeSomaticMutations2013]

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity	source	frequency (%)
DLBCL	GAMBL genomes	5.74
DLBCL	Schmitz cohort	11.28
DLBCL	Reddy cohort	3.70
DLBCL	Chapuy cohort	7.26
MCL	GAMBL genomes	2.84

Mutation pattern and selective pressure estimates

Entity	aSHM	Significant selection	dN/dS (missense)	dN/dS (nonsense)
BL	No	No	0.000	0.000
DLBCL	No	Yes	0.527	60.245
FL	No	No	0.000	0.000

NOTCH2 Hotspots

Chromosome	Coordinate (hg19)	ref>alt	HGVSp
chr1	120458147	G>A	R2400*

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

NOTCH2 Expression

References