PIM1 - morinlab/LLMPP GitHub Wiki
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Experimental Evidence
Driver mutations affecting this gene in FL/DLBCL have been experimentally demonstrated to cause a gain of function (GOF).[@kuoRolePIM1Ibrutinibresistant2016]
@dunsCharacterizationDLBCLPMBL2021, @burkhardtClinicalRelevanceMolecular2022, @pasqualucciHypermutationMultipleProtooncogenes2001
Overview
PIM1 is one of a number of genes affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus.
Experimental Evidence
Driver mutations affecting this gene in FL/DLBCL have been experimentally demonstrated to cause a gain of function (GOF).[@kuoRolePIM1Ibrutinibresistant2016]
Relevance tier by entity
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
FL
BL
Mutation pattern and selective pressure estimates
aSHM regions
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:tables/browser_PIM1.md
Expression
Experimental Evidence
Driver mutations affecting this gene in FL/DLBCL have been experimentally demonstrated to cause a gain of function (GOF).[@kuoRolePIM1Ibrutinibresistant2016]
Experimental Evidence
Driver mutations affecting this gene in FL/DLBCL have been experimentally demonstrated to cause a gain of function (GOF).[@kuoRolePIM1Ibrutinibresistant2016]
include:tables/mermaid_PIM1.md