Table of Contents
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
2 | relevance in BL not firmly established1 |
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
Cannot include /dnds_TTN.md - does not exist yet
TTN Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr2 | 179638249 | C>T | E2512K |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
TTN Expression
Cannot include /mermaid_TTN.md - does not exist yet
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