Massive identification of somatic variants in exonic splicing enhancers using public databases

2019 Fiscal Year Final Research Report

• Project/Area Number: 18K15305
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 50020:Tumor diagnostics and therapeutics-related
• Research Institution: Tokyo Medical and Dental University
• Principal Investigator: Tanimoto Kousuke 東京医科歯科大学, 難治疾患研究所, 助教 (60611613)
• Project Period (FY): 2018-04-01 – 2020-03-31
• Keywords: スプライシング / がん体細胞バリアント / TCGA / データベース

Outline of Final Research Achievements

Using somatic variants and RNA-seq data from 9,635 patients across 32 The Cancer Genome Atlas (TCGA) projects, we identified 646 exonic splicing enhancer (ESE)-disrupting variants. Existing bioinformatics tools could not predict the pathogenicity of ESE-disrupting variants identified in this study, although these variants could cause exon skipping.

Free Research Field

ゲノム科学

Academic Significance and Societal Importance of the Research Achievements

ゲノム医療においてVariants of Uncertain Significanceと呼ばれる意義不明バリアントの存在が課題の一つであるが、本研究はスプライシング制御という観点から体細胞バリアントの意義を明らかにすることができたため、ゲノム医療推進の一助になると期待される。