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

Entity Tier Description
BL 2 Role of PIM1 mutations in BL requires confirmation
DLBCL 1 High-confidence DLBCL gene
FL 1 High-confidence FL gene
PMBL 1 High-confidence PMBL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 267 0.2452 [0.2196,0.2707]
DLBCL GAMBL with Reddy 2,088 458 0.2193 [0.2016,0.2371]
DLBCL BC 231 38 0.1645 [0.1167,0.2123]
DLBCL Dana-Farber 303 72 0.2376 [0.1897,0.2855]
DLBCL NCI 470 130 0.2766 [0.2362,0.317]
DLBCL Reddy 999 191 0.1912 [0.1668,0.2156]
DLBCL DLBCL_ICGC 85 27 0.3176 [0.2187,0.4166]

FL

pathology Collection N mutated Incidence CI
FL GAMBL without Crouch 642 52 0.0810 [0.0599,0.1021]
FL GAMBL with Crouch 1,189 111 0.0934 [0.0768,0.1099]
FL BC 379 32 0.0844 [0.0564,0.1124]
FL Kalmbach 164 12 0.0732 [0.0333,0.113]
FL Crouch 547 59 0.1079 [0.0819,0.1339]
FL FL_ICGC 99 8 0.0808 [0.0271,0.1345]

BL

pathology Collection N mutated Incidence CI
BL GAMBL without Panea 309 3 0.0032 [0,0.0095]
BL GAMBL without ICGC/Zhou 320 9 0.0183 [0.0037,0.0329]
BL GAMBL with Panea 410 9 0.0042 [0,0.0105]
BL BLGSP 219 3 0.0137 [0,0.0291]
BL Zhou/ICGC 90 0 0.0011 [0,0.008]
BL Panea 101 6 0.0594 [0.0133,0.1055]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 4.1768 0.0000 1e+00
FL 2.4538 0.6121 7e-04
DLBCL 0.6350 0.6557 0e+00

aSHM regions

Chromosome hg19_start hg19_end Region 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
Structure with HotMAPS hotspots
Structure with HotMAPS hotspots

Visualizations

Protein

View coding variants in ProteinPaint hg19 or hg38

Genome

View all variants in GenomePaint hg19 or hg38

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?)

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2001-07-19 : Pasqualucci : DLBCL 2021-07-15 : Duns : PMBL 2022-07-06 : Burkhardt : BL

References

Citing

If you use the information or data from this site, please cite

Krysta Coyle, Kostiantyn Dreval, Daniel Hodson and Ryan D. Morin. Audit of B-cell cancer genes. Blood Adv (2025) 9 (8): 2019–2031.

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