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

EPPK1

History

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timeline
    title Publication timing
      2019-09-26 : Panea : BL

Relevance tier by entity

Entity	Tier	Description
	2	low-confidence BL gene[@paneaWholeGenomeLandscape2019]

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity	source	frequency (%)
BL	GAMBL genomes+capture	6.47
BL	Thomas cohort	7.60
BL	Panea cohort	15.80

Mutation pattern and selective pressure estimates

Entity	aSHM	Significant selection	dN/dS (missense)	dN/dS (nonsense)
BL	No	No	1.066	0.0
DLBCL	No	No	1.164	7.7
FL	No	No	2.802	0.0

EPPK1 Hotspots

Chromosome	Coordinate (hg19)	ref>alt	HGVSp
chr8	144946005	G>A	R473W

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

EPPK1 Expression

References