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

ALPK2

<<Warn("The variants reported in this gene in BL failed QC")>>

History

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

Relevance tier by entity

Entity	Tier	Description
	3	Retired, Failed QC[@paneaWholeGenomeLandscape2019]

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity	source	frequency (%)
BL	GAMBL genomes+capture	3.93
BL	Thomas cohort	5.10
BL	Panea cohort	9.90

Mutation pattern and selective pressure estimates

Entity	aSHM	Significant selection	dN/dS (missense)	dN/dS (nonsense)
BL	No	No	1.951	0
DLBCL	No	No	0.000	0
FL	No	No	1.538	0

ALPK2 Hotspots

Chromosome	Coordinate (hg19)	ref>alt	HGVSp
chr18	56203836	C>T	V1195M

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

ALPK2 Expression

Representative Mutations[@paneaWholeGenomeLandscape2019]

Rating ★ ☆ ☆ ☆ ☆

Rating ★ ☆ ☆ ☆ ☆

References