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Ryan Morin edited this page Dec 16, 2024 · 23 revisions

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

SPEN

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
timeline
    title Publication timing
      2012-08-27 : Rossi : MZL
2017-05-01 : Albuquerque : DLBCL
2017-10-10 : Reddy : DLBCL
2018-04-12 : Schmitz : DLBCL
2018-05-01 : Chapuy : DLBCL
2018-10-01 : Arthur : DLBCL
      2021-04-01 : Sarkozy : PMBL

2021-05-05 : Hubschmann : DLBCL
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Relevance tier by entity

Entity Tier Description
MZL 1 high-confidence MZL gene[@rossiCodingGenomeSplenic2012]
PMBL 1 high-confidence PMBL/cHL/GZL gene[@sarkozyMutationalLandscapeGray2021]
DLBCL 1 high-confidence DLBCL gene[@albuquerqueEnhancingKnowledgeDiscovery2017; @reddyGeneticFunctionalDrivers2017; @schmitzGeneticsPathogenesisDiffuse2018]

Mutation incidence in large patient cohorts (GAMBL reanalysis)

include:DLBCL_SPEN.md

Mutation pattern and selective pressure estimates

include:dnds_SPEN.md

SPEN Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr1 16256846 C>T R1371*
chr1 16261814 C>T R3027*

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

SPEN Expression

References

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