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rdmorin edited this page May 29, 2024 · 15 revisions

TTN

History

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timeline
    title Publication timing
      2022-07-06 : Burkhardt : BL
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Relevance tier by entity

Entity Tier Description
BL 2 relevance in BL not firmly established

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
BL GAMBL genomes+capture 28.64
BL Thomas cohort NA
BL Panea cohort NA

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL No No 0.000 0.000
DLBCL No No 0.921 1.537
FL No No 0.000 0.000

TTN Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr2 179638249 C>T E2512K

View coding variants in ProteinPaint hg19 or hg38

image

View all variants in GenomePaint hg19 or hg38

image

TTN Expression

image

References

  1. Burkhardt B, Michgehl U, Rohde J, Erdmann T, Berning P, Reutter K, Rohde M, Borkhardt A, Burmeister T, Dave S, Tzankov A, Dugas M, Sandmann S, Fend F, Finger J, Mueller S, Gökbuget N, Haferlach T, Kern W, Hartmann W, Klapper W, Oschlies I, Richter J, Kontny U, Lutz M, Maecker-Kolhoff B, Ott G, Rosenwald A, Siebert R, von Stackelberg A, Strahm B, Woessmann W, Zimmermann M, Zapukhlyak M, Grau M, Lenz G. Clinical relevance of molecular characteristics in Burkitt lymphoma differs according to age. Nat Commun. 2022 Jul 6;13(1):3881. PMCID: PMC9259584

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