期刊
HUMAN MUTATION
卷 37, 期 1, 页码 36-42出版社
WILEY
DOI: 10.1002/humu.22914
关键词
protein kinase; variants; pathogenicity prediction; variant annotation; functional impact
资金
- Danish National Advanced Technology Foundation [019-2011-2]
- EU FP7 Project ASSET [259348]
Most genomic alterations are tolerated while only a minor fraction disrupts molecular function sufficiently to drive disease. Protein kinases play a central biological function and the functional consequences of their variants are abundantly characterized. However, this heterogeneous information is often scattered across different sources, which makes the integrative analysis complex and laborious. wKinMut-2 constitutes a solution to facilitate the interpretation of the consequences of human protein kinase variation. Nine methods predict their pathogenicity, including a kinase-specific random forest approach. To understand the biological mechanisms causative of human diseases and cancer, information from pertinent reference knowledge bases and the literature is automatically mined, digested, and homogenized. Variants are visualized in their structural contexts and residues affecting catalytic and drug binding are identified. Known protein-protein interactions are reported. Altogether, this information is intended to assist the generation of new working hypothesis to be corroborated with ulterior experimental work. The wKinMut-2 system, along with a user manual and examples, is freely accessible at , the code for local installations can be downloaded from https://github.com/Rbbt-Workflows/KinMut2. (C) 2015 Wiley Periodicals, Inc..
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据