Department of Biomedical Engineering, Institute for Computational Medicine, Johns Hopkins University, 3400 N. Charles St., Baltimore, MD, USA.
Hum Genet. 2013 Nov;132(11):1235-43. doi: 10.1007/s00439-013-1325-0. Epub 2013 Jun 23.
Mutation position imaging toolbox (MuPIT) interactive is a browser-based application for single-nucleotide variants (SNVs), which automatically maps the genomic coordinates of SNVs onto the coordinates of available three-dimensional (3D) protein structures. The application is designed for interactive browser-based visualization of the putative functional relevance of SNVs by biologists who are not necessarily experts either in bioinformatics or protein structure. Users may submit batches of several thousand SNVs and review all protein structures that cover the SNVs, including available functional annotations such as binding sites, mutagenesis experiments, and common polymorphisms. Multiple SNVs may be mapped onto each structure, enabling 3D visualization of SNV clusters and their relationship to functionally annotated positions. We illustrate the utility of MuPIT interactive in rationalizing the impact of selected polymorphisms in the PharmGKB database, somatic mutations identified in the Cancer Genome Atlas study of invasive breast carcinomas, and rare variants identified in the exome sequencing project. MuPIT interactive is freely available for non-profit use at http://mupit.icm.jhu.edu .
突变位置成像工具包（MuPIT）交互是一个基于浏览器的单核苷酸变体（SNV）应用程序，它自动将 SNV 的基因组坐标映射到可用的三维（3D）蛋白质结构的坐标上。该应用程序旨在通过生物学家进行交互式基于浏览器的可视化，这些生物学家不一定是生物信息学或蛋白质结构方面的专家，以确定 SNV 的潜在功能相关性。用户可以提交几千个 SNV 的批次，并查看涵盖 SNV 的所有蛋白质结构，包括可用的功能注释，如结合位点、诱变实验和常见的多态性。多个 SNV 可以映射到每个结构上，从而能够对 SNV 簇及其与功能注释位置的关系进行 3D 可视化。我们说明了 MuPIT 交互在合理推断 PharmGKB 数据库中选定多态性、癌症基因组图谱研究中浸润性乳腺癌的体细胞突变以及外显子组测序项目中鉴定的罕见变异的影响方面的实用性。MuPIT 交互可免费非盈利使用，网址为 http://mupit.icm.jhu.edu 。
