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MOKCa-3D database: functional and structural analysis of missense mutations in cancer
Biniam Haile1, Adnan Cinar1, Sayeda F Banini1
1Bioinformatics Laboratory, Faculty of Science, Engineering and Medicine, University of Sussex, John Maynard Smith (JMS) Building, Falmer, Brighton, BN1 9RJ, United Kingdom.
Abstract:
Determining the functional consequence of missense mutations acquired in the development of cancer is critical to the understanding of the evolution and the therapeutic vulnerabilities of an individual tumour. Several million missense mutations associated with cancer have been reported across different databases with little functional annotation accompanying each mutation. We have designed the MOKCa-3D database, (https://bioinformaticslab.sussex.ac.uk/MOKCa-3D/) to enable the contextualization and interpretation of cancer somatic missense mutations, including the structural impact of the mutation on the 3D structure, and whether the mutation results in a gain or loss of the protein's function. For each protein, a sequence feature viewer enables interactive visualization of the amino acid sequence, missense mutations, post-translational modification sites, protein domains, active sites, binding sites, protein-protein interaction sites, and mutational frequency. The mutation-level page concisely presents functional insights for each individual mutation, and an interactive MOL* viewer highlights mutated residue on an AlphaFold protein structural model. The SAAP structural impact analysis pipeline was used to identify the structural impact of the mutation. MOKCa-3D concisely presents functional insights and structural impacts of cancer somatic missense mutations enabling users to interpret their functional consequences. It is freely accessible and easy to navigate, making it usable by the widest range of researchers.
Insights
The MOKCa-3D database aids researchers in understanding cancer mutations. It provides structural and functional insights for missense mutations, crucial for cancer evolution and treatment strategies.
Area of Science:
- Bioinformatics
- Cancer Genomics
- Structural Biology
Background:
- Millions of cancer missense mutations lack functional annotation.
- Understanding mutation consequences is vital for cancer evolution and therapeutic vulnerability.
- Existing databases offer limited functional and structural context for cancer mutations.
Purpose of the Study:
- To introduce the MOKCa-3D database for contextualizing and interpreting cancer somatic missense mutations.
- To provide insights into the structural impact and functional consequences (gain/loss) of mutations.
- To facilitate the interpretation of missense mutations for cancer research.
Main Methods:
- Development of the MOKCa-3D database (https://bioinformaticslab.sussex.ac.uk/MOKCa-3D/).
- Integration of a sequence feature viewer for interactive visualization of protein sequence data.
- Utilization of the SAAP pipeline for structural impact analysis and MOL* viewer for 3D structure visualization.
- Inclusion of AlphaFold protein structural models.
Main Results:
- MOKCa-3D provides interactive visualization of protein sequences, mutations, and functional sites.
- The database offers concise functional insights and structural impacts for individual mutations.
- Mutated residues are highlighted on AlphaFold models, aiding structural interpretation.
Conclusions:
- MOKCa-3D enhances the interpretation of cancer somatic missense mutations.
- The database offers freely accessible, navigable tools for researchers.
- It supports understanding cancer evolution and identifying therapeutic vulnerabilities.
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