title: PupaSNP Finder: a web tool for finding SNPs with putative effect at transcriptional level.
abstract: We have developed a web tool, PupaSNP Finder (PupaSNP for short), for high-throughput searching for single nucleotide polymorphisms (SNPs) with potential phenotypic effect. PupaSNP takes as its input lists of genes (or generates them from chromosomal coordinates) and retrieves SNPs that could affect the conserved regions that the cellular machinery uses for the correct processing of genes (intron/exon boundaries or exonic splicing enhancers), predicted transcription factor binding sites (TFBS) and changes in amino acids in the proteins. The program uses the mapping of SNPs in the genome provided by Ensembl. Additionally, user-defined SNPs (not yet mapped in the genome) can be easily provided to the program. Also, additional functional information from Gene Ontology, OMIM and homologies in other model organisms is provided. In contrast to other programs already available, which focus only on SNPs with possible effect in the protein, PupaSNP includes SNPs with possible transcriptional effect. PupaSNP will be of significant help in studies of multifactorial disorders, where the use of functional SNPs will increase the sensitivity of identification of the genes responsible for the disease. The PupaSNP web interface is accessible through http://pupasnp.bioinfo.cnio.es.
authors.affiliation: Bioinformatics Unit, Centro Nacional de Investigaciones Oncológicas, Madrid, Spain.
authors.forename: Lucía
authors.initials: L
authors.lastname: Conde
authors.forename: Juan M
authors.initials: JM
authors.lastname: Vaquerizas
authors.forename: Javier
authors.initials: J
authors.lastname: Santoyo
authors.forename: Fátima
authors.initials: F
authors.lastname: Al-Shahrour
authors.forename: Sergio
authors.initials: S
authors.lastname: Ruiz-Llorente
authors.forename: Mercedes
authors.initials: M
authors.lastname: Robledo
authors.forename: Joaquín
authors.initials: J
authors.lastname: Dopazo
mesh_terms: D019943:Amino Acid Substitution; D001665:Binding Sites; D006801:Humans; D020407:Internet; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D012326:RNA Splicing; D012984:Software; D014157:Transcription Factors / Q000378:metabolism; D014158:Transcription, Genetic
chemical_list: D014157:Transcription Factors