title: GREMET: an integrative tool for the prediction of mutation effects on gene regulation.
abstract: The identification of thousands of mutations yearly has put new challenges to researchers who are interested in fast and effective annotation as well as the prediction of potential implications to the gene regulation mechanisms. This work presents an integrative tool, called GREMET, for the prediction of alterations in gene splicing regulation inferred by mutations of the human genome. GREMET supports the characterization of mutations either single-point or indels with respect to their effect on the splicing potential of the neighboring sequences and the binding strength of auxiliary cis-acting splicing enhancers. In addition, GREMET identifies possible consequences of mutations on the DNA methylation through the disruption or creation of CpG sequences. Besides locus-specific mutations, GREMET performs the analyses on newly identified mutations and provides an easy-to-use Web interface helping researchers to save time in routine mutation analyses. GREMET is freely accessible at: http://kedip.med.auth.gr/biotools/gremet/.
authors: Laboratory of Medical Informatics, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece. polis.athan@gmail.com
authors: Polykarpos
authors: P
authors: Athanasiadis
authors: Andigoni
authors: A
authors: Malousi
authors: Sofia
authors: S
authors: Kouidou
authors: Nicos
authors: N
authors: Maglaveras
mesh_terms: D000101:Acetyl-CoA C-Acetyltransferase / Q000172:deficiency / Q000235:genetics; D018899:CpG Islands; D019175:DNA Methylation / Q000235:genetics; D004252:DNA Mutational Analysis / Q000706:statistics & numerical data*; D005786:Gene Expression Regulation; D016158:Genes, p53; D015894:Genome, Human; D006801:Humans; D054643:INDEL Mutation; D020407:Internet; D009154:Mutation; D009369:Neoplasms / Q000235:genetics; D017354:Point Mutation; D022821:RNA Splice Sites / Q000235:genetics; D012984:Software
chemical_list: D022821:RNA Splice Sites; C506639:ACAT1 protein, human; D000101:Acetyl-CoA C-Acetyltransferase