---
bibliography: 'morinlab.bib'
csl: 'NLM.csl'
link-citations: true
nocite: |
  @dunsCharacterizationDLBCLPMBL2021, @burkhardtClinicalRelevanceMolecular2022, @pasqualucciHypermutationMultipleProtooncogenes2001
---
[[_TOC_]]

## Overview
PIM1 is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus.


## Relevance tier by entity

[[include:table1_PIM1.md]]

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

[[include:DLBCL_PIM1.md]]
[[include:FL_PIM1.md]]
[[include:BL_PIM1.md]]

## Mutation pattern and selective pressure estimates

[[include:dnds_PIM1.md]]

## aSHM regions

[[include:ashm_PIM1.md]]

## PIM1 Hotspots

| Chromosome |Coordinate (hg19) | ref>alt | HGVSp | 
 | :---:| :---: | :--: | :---: |
| chr6 | 37138406 | G>A | D19N |
| chr6 | 37138419 | C>G | T23S |
| chr6 | 37138423 | G>C | K24N |
| chr6 | 37138423 | G>T | K24N |
| chr6 | 37138427 | G>A | A26T |
| chr6 | 37138430 | C>A | P27T |
| chr6 | 37138549 | G>A | G28D |
| chr6 | 37138554 | G>A | E30K |
| chr6 | 37138560 | G>A | E32K |
| chr6 | 37138563 | C>T | P33S |
| chr6 | 37138566 | C>G | L34V |
| chr6 | 37138573 | C>T | S36L |
| chr6 | 37138576 | AG>TA | Q37L |
| chr6 | 37138577 | G>C | Q37H |
| chr6 | 37138583 | G>C | Q39H |
| chr6 | 37138593 | C>G | L43V |
| chr6 | 37138596 | C>A | L44M |
| chr6 | 37138596 | C>G | L44V |
| chr6 | 37138603 | GCG>- | G48del |
| chr6 | 37138604 | C>A | S46R |

[[include:browser_PIM1.md]]

## Expression
![](images/gene_expression/PIM1_by_pathology.svg)
<!-- ORIGIN: pasqualucciHypermutationMultipleProtooncogenes2001a -->
<!-- BL: burkhardtClinicalRelevanceMolecular2022b -->
<!-- BL: burkhardtClinicalRelevanceMolecular2022b -->
<!-- DLBCL: pasqualucciHypermutationMultipleProtooncogenes2001a -->

[[include:mermaid_PIM1.md]]

## References

<!-- PMBL: dunsCharacterizationDLBCLPMBL2021b -->