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ZFP36L1

rdmorin edited this page Dec 13, 2024 · 24 revisions

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

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
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
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Relevance tier by entity

Entity Tier Description
MCL 2 relevance in MCL not firmly established
PMBL 1 high-confidence PMBL/cHL/GZL gene[@reichelFlowSortingExome2015]
BL 2-a aSHM target; Although recurrent, the relevance of mutations in BL is tenuous [@paneaWholeGenomeLandscape2019]
DLBCL 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

ZFP36L1 Expression

References

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