SpliceDisease
General Information
The SpliceDisease database provides information linking RNA splicing to human disease, including the change of the nucleotide in the sequence, the location of the mutation on the gene, the reference Pubmed ID and detailed description for the relationship among gene mutations, splicing defects and diseases.
How to cite this record
FAIRsharing.org: SpliceDisease; SpliceDisease; DOI: https://doi.org/10.25504/FAIRsharing.kq47fy;
Last edited: Jan. 8, 2019, 1:15 p.m.; Last accessed: May 22 2019 7:57 p.m.
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Edits to 'https://fairsharing.org/FAIRsharing.kq47fy' by 'The FAIRsharing Team' at 13:23, 03 Jan 2017 (approved):
'description' has been modified:
Before: Links between RNA splicing and disease
After: The SpliceDisease database provides information linking RNA splicing to human disease, including the change of the nucleotide in the sequence, the location of the mutation on the gene, the reference Pubmed ID and detailed description for the relationship among gene mutations, splicing defects and diseases.
Edits to 'https://fairsharing.org/FAIRsharing.kq47fy' by 'The FAIRsharing Team' at 23:46, 28 Dec 2016 (approved):
'shortname' has been modified:
Before: SpliceDisease
After: Domain list has changed: Previous values: Disease|information content entity|http://ontology.neuinfo.org/NIF/Backend/BIRNLex-OBI-proxy.owl#birnlex_11013 Mutation analysis|| RNA splicing|| New values: Disease|information content entity|http://ontology.neuinfo.org/NIF/Backend/BIRNLex-OBI-proxy.owl#birnlex_11013 Mutation analysis|| RNA splicing|| Life Science|domain| Biomedical Science|None|
Support
No support information provided.
Access / Retrieve Data
Conditions of Use
Data Release
| weekly release
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No link recorded |
Data Curation
| manual curation
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No link recorded |
Data Access
| web interface
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No link recorded |
| file download(csv)
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No link recorded |
| SQL database dump
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No link recorded |
Publications
SpliceDisease database: linking RNA splicing and disease.
Wang J., Zhang J., Li K., Zhao W., Cui Q.,
Nucleic Acids Res. 2012
View Paper (PubMed)
Related Standards
Reporting Guidelines
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Identifier Schemas
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