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



## Relevance tier by entity

|Entity|Tier|Description                           |
|:------:|:----:|--------------------------------------|
|![BL](images/icons/BL_tier2.png)    |3   |Retired, Failed QC[@paneaWholeGenomeLandscape2019]|

## Warnings

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


## 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

[[include:dnds_ALPK2.md]]



## ALPK2 Hotspots

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

[[include:browser_ALPK2.md]]

## Expression
![](images/gene_expression/ALPK2_by_pathology.svg)
<!-- ORIGIN: paneaWholeGenomeLandscape2019 -->
<!-- BL: paneaWholeGenomeLandscape2019 -->

## Representative Mutations[@paneaWholeGenomeLandscape2019]

![](primary/Panea_ALPK2.svg)
**Rating**
&starf; &star; &star; &star; &star;

![](primary/Panea_ALPK2_2.svg)
**Rating**
&starf; &star; &star; &star; &star;


[[include:mermaid_ALPK2.md]]

## References