ITPKB - morinlab/LLMPP GitHub Wiki

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bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @reichelFlowSortingExome2015, @schmitzGeneticsPathogenesisDiffuse2018,

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Overview

The ITPKB gene encodes inositol-trisphosphate 3-kinase B, an enzyme involved in the regulation of intracellular calcium levels and PI3K/Akt signaling pathways. Mutations in ITPKB have been linked to various B-cell lymphomas, including DLBCL, PMBCL and, less commonly, FL.[@reichelFlowSortingExome2015; @schmitzGeneticsPathogenesisDiffuse2018] ITPKB 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. These mutations are associated with the BN2 genetic subgroup of DLBCL. The mutation pattern in ITPKB implies selection for loss-of-function mutations.

Experimental Evidence

Driver mutations affecting this gene in DLBCL have been experimentally demonstrated to cause a reduction or loss of function (LOF).[@tiacciPervasiveMutationsJAKSTAT2018]

Relevance tier by entity

include:tables/table1_ITPKB.md

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

include:tables/DLBCL_ITPKB.md

FL

include:tables/FL_ITPKB.md

Mutation pattern and selective pressure estimates

include:tables/dnds_ITPKB.md

aSHM regions

chr_name	hg19_start	hg19_end	region	regulatory_comment
chr1	226864857	226873452	intron	weak_enhancer
chr1	226920563	226927885	TSS	active_promoter
chr1	226921088	226927982	intron-1	enhancer

ITPKB Hotspots

Chromosome	Coordinate (hg19)	ref>alt	HGVSp
chr1	226925148	G>C	Y4*
chr1	226925148	G>T	Y4*

include:tables/browser_ITPKB.md

Expression

include:tables/mermaid_ITPKB.md

References