Joint annotation of coding and non-coding single nucleotide polymorphisms and mutations in the SNPeffect and PupaSuite databases

TitleJoint annotation of coding and non-coding single nucleotide polymorphisms and mutations in the SNPeffect and PupaSuite databases
Publication TypeJournal Article
Year of Publication2008
AuthorsReumers, J, Conde, L, Medina, I, Maurer-Stroh, S, Van Durme, J, Dopazo, J, Rousseau, F, Schymkowitz, J
JournalNucleic Acids Res
KeywordsAmino Acid Substitution Animals *Databases; Genetic Genetic Diseases; Inborn/genetics HSP70 Heat-Shock Proteins/metabolism Humans Internet Mice MicroRNAs/metabolism *Mutation *Polymorphism; Single Nucleotide Proteins/chemistry/genetics RNA Splice Sites Rats Transcription Factors/metabolism

Single nucleotide polymorphisms (SNPs) are, together with copy number variation, the primary source of variation in the human genome. SNPs are associated with altered response to drug treatment, susceptibility to disease and other phenotypic variation. Furthermore, during genetic screens for disease-associated mutations in groups of patients and control individuals, the distinction between disease causing mutation and polymorphism is often unclear. Annotation of the functional and structural implications of single nucleotide changes thus provides valuable information to interpret and guide experiments. The SNPeffect and PupaSuite databases are now synchronized to deliver annotations for both non-coding and coding SNP, as well as annotations for the SwissProt set of human disease mutations. In addition, SNPeffect now contains predictions of Tango2: an improved aggregation detector, and Waltz: a novel predictor of amyloid-forming sequences, as well as improved predictors for regions that are recognized by the Hsp70 family of chaperones. The new PupaSuite version incorporates predictions for SNPs in silencers and miRNAs including their targets, as well as additional methods for predicting SNPs in TFBSs and splice sites. Also predictions for mouse and rat genomes have been added. In addition, a PupaSuite web service has been developed to enable data access, programmatically. The combined database holds annotations for 4,965,073 regulatory as well as 133,505 coding human SNPs and 14,935 disease mutations, and phenotypic descriptions of 43,797 human proteins and is accessible via and


Reumers, Joke Conde, Lucia Medina, Ignacio Maurer-Stroh, Sebastian Van Durme, Joost Dopazo, Joaquin Rousseau, Frederic Schymkowitz, Joost Research Support, Non-U.S. Gov’t England Nucleic acids research Nucleic Acids Res. 2008 Jan;36(Database issue):D825-9. Epub 2007 Dec 17.