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.

Relevance tier by entity

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Mutation incidence in large patient cohorts (GAMBL reanalysis)

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Mutation pattern and selective pressure estimates

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aSHM regions

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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

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Expression

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References

1.
Burkhardt B, Michgehl U, Rohde J, Erdmann T, Berning P, Reutter K, Rohde M, Borkhardt A, Burmeister T, Dave S, Tzankov A, Dugas M, Sandmann S, Fend F, Finger J, Mueller S, Gökbuget N, Haferlach T, Kern W, Hartmann W, Klapper W, Oschlies I, Richter J, Kontny U, Lutz M, Maecker-Kolhoff B, Ott G, Rosenwald A, Siebert R, von Stackelberg A, Strahm B, Woessmann W, Zimmermann M, Zapukhlyak M, Grau M, Lenz G. Clinical relevance of molecular characteristics in Burkitt lymphoma differs according to age. Nat Commun. 2022 Jul 6;13(1):3881. PMCID: PMC9259584
2.
Duns G, Viganò E, Ennishi D, Sarkozy C, Hung SS, Chavez E, Takata K, Rushton C, Jiang A, Ben-Neriah S, Woolcock BW, Slack GW, Hsi ED, Craig JW, Hilton LK, Shah SP, Farinha P, Mottok A, Gascoyne RD, Morin RD, Savage KJ, Scott DW, Steidl C. Characterization of DLBCL with a PMBL gene expression signature. Blood. 2021 Jul 15;138(2):136–148.
3.
Pasqualucci L, Neumeister P, Goossens T, Nanjangud G, Chaganti RS, Küppers R, Dalla-Favera R. Hypermutation of multiple proto-oncogenes in B-cell diffuse large-cell lymphomas. Nature. 2001 Jul 19;412(6844):341–346.