ALPK2

Table of Contents

Relevance tier by entity
Mutation incidence in large patient cohorts (GAMBL reanalysis)
Mutation pattern and selective pressure estimates
ALPK2 Hotspots
ALPK2 Expression
Representative Mutations1
References

The variants reported in this gene in BL failed QC

Relevance tier by entity

Entity	Tier	Description
	3	Retired, Failed QC¹

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)
BL	No	No	1.951
DLBCL	No	No	0.000
FL	No	No	1.538

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 Mutations¹

Rating ★ ☆ ☆ ☆ ☆

Cannot include /mermaid_ALPK2.md - does not exist yet

References

Panea R, Love C, Shingleton JR, Reddy A, Bailey J, Moormann A, Otieno J, Ong’echa J, Oduor C, Schroêder K, Masalu N, Chao N, Agajanian M, Major M, Fedoriw Y, Richards K, Rymkiewicz G, Miles R, Alobeid B, Bhagat G, Flowers C, Ondrejka S, Hsi E, Choi W, Au-Yeung R, Hartmann W, Lenz G, Meyerson H, Lin YY, Zhuang Y, Luftig M, Waldrop A, Dave T, Thakkar D, Sahay H, Li G, Palus B, Seshadri V, Kim S, Gascoyne R, Levy S, Mukhopadhyay M, Dunson D, Dave S. The whole genome landscape of Burkitt lymphoma subtypes. Blood. 2019;