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TNFAIP3

rdmorin edited this page May 24, 2024 · 33 revisions

TNFAIP3

Relevance tier by entity

Entity Tier Description
BL 2 relevance in BL not firmly established
DLBCL 1 high-confidence DLBCL gene
FL 1 high-confidence FL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
BL GAMBL genomes+capture 1.39
BL Thomas cohort 0.80
BL Panea cohort 2.00
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

Note

First described in DLBCL in 2009 by Compagno M. First described in FL in 2011 by Morin RD

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

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View all variants in GenomePaint hg19 or hg38

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TNFAIP3 Expression

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References

  1. Morin RD, Mendez-Lago M, Mungall AJ, Goya R, Mungall KL, Corbett RD, Johnson NA, Severson TM, Chiu R, Field M, Jackman S, Krzywinski M, Scott DW, Trinh DL, Tamura-Wells J, Li S, Firme MR, Rogic S, Griffith M, Chan S, Yakovenko O, Meyer IM, Zhao EY, Smailus D, Moksa M, Chittaranjan S, Rimsza L, Brooks-Wilson A, Spinelli JJ, Ben-Neriah S, Meissner B, Woolcock B, Boyle M, McDonald H, Tam A, Zhao Y, Delaney A, Zeng T, Tse K, Butterfield Y, Birol I, Holt R, Schein J, Horsman DE, Moore R, Jones SJ, Connors JM, Hirst M, Gascoyne RD, Marra MA. Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma. Nature. 2011 Jul 27;476(7360):298-303. doi: 10.1038/nature10351. PMID: 21796119; PMCID: PMC3210554.

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