ALPK2 - morinlab/LLMPP GitHub Wiki
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
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