PIM1

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bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true

[[TOC]]

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

Entity	Tier	Description
	1	high-confidence PMBL/cHL/GZL gene[@dunsCharacterizationDLBCLPMBL2021]
	2	aSHM target; Although recurrent, the relevance of mutations in BL is tenuous [@burkhardtClinicalRelevanceMolecular2022]
	1	aSHM target and high-confidence DLBCL gene [@pasqualucciHypermutationMultipleProtooncogenes2001]
	1	aSHM target and high-confidence FL gene

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

include:mermaid_PIM1.md

References