---
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[@loveGeneticLandscapeMutations2012]|

## Warnings

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

## Mutation incidence in large patient cohorts (GAMBL reanalysis)

|Entity|source               |frequency (%)|
|:------:|:---------------------:|:-------------:|
|BL    |GAMBL genomes+capture|2.77         |
|BL    |Thomas cohort        |  NA         |
|BL    |Panea cohort         |  NA         |

## Mutation pattern and selective pressure estimates

[[include:dnds_SHANK1.md]]



[[include:browser_SHANK1.md]]

## Expression
![](images/gene_expression/SHANK1_by_pathology.svg)
<!-- ORIGIN: loveGeneticLandscapeMutations2012 -->
<!-- BL: loveGeneticLandscapeMutations2012 -->

## Representative Mutation

![](primary/Love_SHANK1.svg)
**Rating**
&starf; &star; &star; &star; &star;

[[include:mermaid_SHANK1.md]]

## References