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TNFAIP3

rdmorin edited this page Dec 13, 2024 · 33 revisions

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

TNFAIP3

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
timeline
    title Publication timing
      2009-05-11 : Schmitz : PMBL
      2009-06-04 : Compagno : DLBCL
      2011-11-03 : Rossi : MZL
2013-01-01 : Zhang : DLBCL
2017-05-01 : Albuquerque : DLBCL
2017-10-10 : Reddy : DLBCL
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Relevance tier by entity

Entity Tier Description
PMBL 1 high-confidence PMBL/cHL/GZL gene[@schmitzTNFAIP3A20Tumor2009]
MZL 1 high-confidence MZL gene[@rossiAlterationBIRC3Multiple2011]
DLBCL 1 high-confidence DLBCL gene [@compagnoMutationsMultipleGenes2009]
FL 1 high-confidence FL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 6.69
DLBCL Schmitz cohort 16.60
DLBCL Reddy cohort 8.11
DLBCL Chapuy cohort 12.39
FL GAMBL genomes 4.85

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL No No 1.168 16.846
DLBCL No Yes 1.550 30.319
FL No No 5.686 75.953

TNFAIP3 Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr6 138197303 G>A E269K
chr6 138198218 C>T R271*
chr6 138198246 G>A R280Q

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

TNFAIP3 Expression

References

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