The Alternative Splicing Mutation Database: A Resource for Studying Alternative Splicing
Author Information
Author(s): Bechtel Jason M, Rajesh Preeti, Ilikchyan Irina, Deng Ying, Mishra Pankaj K, Wang Qi, Wu Xiaochun, Afonin Kirill A, Grose William E, Wang Ye, Khuder Sadik, Fedorov Alexei
Primary Institution: University of Toledo Health Science Campus
Hypothesis
How do mutations in exons affect alternative splicing patterns?
Conclusion
The database shows that mutations affecting splicing are distributed throughout exons and may be enriched in local RNA secondary structures.
Supporting Evidence
- The ASMD contains 170 mutations in 66 exons.
- The database allows users to explore connections between mutations and RNA secondary structures.
- The ASMD is manually curated to ensure accuracy in the data.
Takeaway
Scientists created a database to help understand how small changes in genes can affect how they are read and used by cells.
Methodology
The database was created using a relational database (MySQL) to represent relationships between genes, mutations, and splicing effects.
Limitations
Currently, the database only includes human mutations and does not cover intronic mutations or mutations in other species.
Digital Object Identifier (DOI)
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