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


## Relevance tier by entity

|Entity|Tier|Description            |
|:------:|:----:|-----------------------|
|![BL](images/icons/BL_tier1.png)    |1   |high-confidence BL gene[@paneaWholeGenomeLandscape2019]|

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

[[include:BL_BMP7.md]]

## Mutation pattern and selective pressure estimates

[[include:dnds_BMP7.md]]

## BMP7 Hotspots

| Chromosome |Coordinate (hg19) | ref>alt | HGVSp | 
 | :---:| :---: | :--: | :---: |
| chr20 | 55841157 | C>T | A8T |
| chr20 | 55841157 | C>G | A8P |
| chr20 | 55841156 | G>C | A8G |
| chr20 | 55841155 | AG>TA | A8V |
| chr20 | 55840966 | G>T | H71Q |
| chr20 | 55840965 | G>C | L72V |
| chr20 | 55840962 | G>C | Q73E |
| chr20 | 55840958 | C>T | G74D |
| chr20 | 55840954 | C>A | K75N |
| chr20 | 55840953 | G>T | H76N |
| chr20 | 55840953 | G>C | H76D |
| chr20 | 55840953 | G>A | H76Y |
| chr20 | 55840944 | C>G | A79P |
| chr20 | 55840935 | A>G | F82L |
| chr20 | 55840918 | G>C | Y87* |
| chr20 | 55840913 | G>T | A89D |

[[include:browser_BMP7.md]]

## Expression
![](images/gene_expression/BMP7_by_pathology.svg)
<!-- ORIGIN: paneaWholeGenomeLandscape2019 -->
<!-- BL: paneaWholeGenomeLandscape2019 -->

[[include:mermaid_BMP7.md]]

## References