ZFP36L1 - morinlab/LLMPP GitHub Wiki

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

ZFP36L1

Overview

ZFP36L1 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
2011-07-27 : Morin : DLBCL
2015-02-12 : Reichel : PMBL
2017-05-01 : Albuquerque : DLBCL
2018-04-12 : Schmitz : DLBCL
2018-05-01 : Chapuy : DLBCL
2018-10-01 : Arthur : DLBCL
      2019-09-26 : Panea : BL
2021-05-05 : Hubschmann : DLBCL

Relevance tier by entity

Entity	Tier	Description
	2	relevance in MCL not firmly established
	1	high-confidence PMBL/cHL/GZL gene[@reichelFlowSortingExome2015a]
	2-a	aSHM target; Although recurrent, the relevance of mutations in BL is tenuous [@paneaWholeGenomeLandscape2019]
	1-a	aSHM target and high-confidence DLBCL gene [@morinFrequentMutationHistonemodifying2011]

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity	source	frequency (%)
BL	GAMBL genomes+capture	2.08
BL	Thomas cohort	2.10
BL	Panea cohort	3.00
DLBCL	GAMBL genomes	6.69
DLBCL	Schmitz cohort	8.51
DLBCL	Reddy cohort	5.61
DLBCL	Chapuy cohort	8.12

Mutation pattern and selective pressure estimates

Entity	aSHM	Significant selection	dN/dS (missense)	dN/dS (nonsense)
BL	Yes	Yes	2.453	185.809
DLBCL	Yes	Yes	1.293	14.964
FL	Yes	Yes	7.622	419.109

aSHM regions

chr_name	hg19_start	hg19_end	region	regulatory_comment
chr14	69257848	69259739	TSS	active_promoter

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38