Cancerouspdomains: comprehensive analysis of cancer type-specific recurrent somatic mutations in proteins and domains

BMC Bioinformatics

Research Article

Seirana Hashemi¹  Abbas Nowzari Dalini¹  Zahra Razaghi-Moghadam²  Ali Mohammad Banaei-Moghaddam³  Adrin Jalali⁴ 

[1] College of Science, University of Tehran, Tehran, Iran;Faculty of New Sciences and Technologies, University of Tehran, North Kargar St, 1439957131, Tehran, Tehran, Iran;Institute of Biochemistry and Biophysics (IBB), University of Tehran, Tehran, Iran;Max Planck Institute for Informatics, Saarland Informatics, Campus, 66123, Saarbrücken, Germany;

关键词: Cancer;    Protein domain;    Pfam;    Cath;    Pan-cancer;    Somatic mutation;    TCGA exome sequencing data;   

DOI  :  10.1186/s12859-017-1779-5

 received in 2017-03-27, accepted in 2017-08-02,  发布年份 2017

来源: Springer

【 摘 要 】

BackgroundDiscriminating driver mutations from the ones that play no role in cancer is a severe bottleneck in elucidating molecular mechanisms underlying cancer development. Since protein domains are representatives of functional regions within proteins, mutations on them may disturb the protein functionality. Therefore, studying mutations at domain level may point researchers to more accurate assessment of the functional impact of the mutations.ResultsThis article presents a comprehensive study to map mutations from 29 cancer types to both sequence- and structure-based domains. Statistical analysis was performed to identify candidate domains in which mutations occur with high statistical significance. For each cancer type, the corresponding type-specific domains were distinguished among all candidate domains. Subsequently, cancer type-specific domains facilitated the identification of specific proteins for each cancer type. Besides, performing interactome analysis on specific proteins of each cancer type showed high levels of interconnectivity among them, which implies their functional relationship. To evaluate the role of mitochondrial genes, stem cell-specific genes and DNA repair genes in cancer development, their mutation frequency was determined via further analysis.ConclusionsThis study has provided researchers with a publicly available data repository for studying both CATH and Pfam domain regions on protein-coding genes. Moreover, the associations between different groups of genes/domains and various cancer types have been clarified. The work is available at http://www.cancerouspdomains.ir.

【 授权许可】

CC BY   
© The Author(s). 2017

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