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MutSpliceDB: a Database of Splice Sites Variants

Developed by: Computational and Systems Biology Branch
(Biometric Research Program, DCTD/NCI)


MutSpliceDB documents mutation effect(s) on splicing (such as exon inclusion/exclusion or intron retention) based on RNA-seq BAM files from sample(s) with particular splice site mutations.
The research community can propose additional splice site mutations for inclusion in this public resource when RNA-seq based evidence is available.


*Disclaimer*: MutSpliceDB is a free resource intended for research purposes only. It should NOT be used for emergencies or medical or professional advice.



Getting Started

Documentation

Contact
For inquiries or to submit evidence, please contact
Dr. Dmitriy Sonkin (dmitriy.sonkin@nih.gov)

Publication
Palmisano, A., Vural, S., Zhao, Y., & Sonkin, D. (2021).
MutSpliceDB: A database of splice sites variants with RNA-seq based evidence on effects on splicing.
Human Mutation.
https://doi.org/10.1002/humu.24185 (PMID: 33600011)