PIM1
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.
History
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timeline
title Publication timing
2001-07-19 : Pasqualucci : DLBCL
2021-07-15 : Duns : PMBL
2022-07-06 : Burkhardt : BL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 1 | high-confidence PMBL/cHL/GZL genedunsCharacterizationDLBCLPMBL2021b? | |
| 2-a | aSHM target; Although recurrent, the relevance of mutations in BL is tenuousburkhardtClinicalRelevanceMolecular2022b? | |
| 1-a | aSHM target and high-confidence DLBCL genepasqualucciHypermutationMultipleProtooncogenes2001a? | |
| 1-a | aSHM target and high-confidence FL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 2.31 |
| BL | Thomas cohort | NA |
| BL | Panea cohort | NA |
| DLBCL | GAMBL genomes | 20.27 |
| DLBCL | Schmitz cohort | 27.66 |
| DLBCL | Reddy cohort | 19.12 |
| DLBCL | Chapuy cohort | 23.93 |
| FL | GAMBL genomes | 9.24 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | No | 6.021 | 0.000 |
| DLBCL | Yes | Yes | 2.096 | 2.418 |
| FL | Yes | No | 4.214 | 0.000 |
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr6 | 37138104 | 37139804 | TSS | active_promoter |
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 |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
PIM1 Expression
References
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