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rdmorin edited this page Jul 3, 2024 · 21 revisions

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

ALPK2

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

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
timeline
    title Publication timing
      2019-09-26 : Panea : BL
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Relevance tier by entity

Entity Tier Description
BL 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

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