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rdmorin edited this page Jun 21, 2024 · 15 revisions

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

TTN

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
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[@burkhardtClinicalRelevanceMolecular2022b]

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

View all variants in GenomePaint hg19 or hg38

TTN Expression

References

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