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HuVarBase:一个具有基因和蛋白质水平综合信息的人类变异数据库。

HuVarBase: A human variant database with comprehensive information at gene and protein levels.

机构信息

Department of Biotechnology, Bhupat and Jyoti Mehta School of BioSciences, Indian Institute of Technology Madras, Chennai, Tamilnadu, India.

Advanced Computational Drug Discovery Unit (ACDD), Institute of Innovative Research, Tokyo Institute of Technology, Midori-ku, Yokohama, Kanagawa, Japan.

出版信息

PLoS One. 2019 Jan 31;14(1):e0210475. doi: 10.1371/journal.pone.0210475. eCollection 2019.

Abstract

Human variant databases could be better exploited if the variant data available in multiple resources is integrated in a single comprehensive resource along with sequence and structural features. Such integration would improve the analyses of variants for disease prediction, prevention or treatment. The HuVarBase (HUmanVARiantdataBASE) assimilates publicly available human variant data at protein level and gene level into a comprehensive resource. Protein level data such as amino acid sequence, secondary structure of the mutant residue, domain, function, subcellular location and post-translational modification are integrated with gene level data such as gene name, chromosome number & genome position, DNA mutation, mutation type origin and rs ID number. Disease class has been added for the disease causing variants. The database is publicly available at https://www.iitm.ac.in/bioinfo/huvarbase. A total of 774,863 variant records, integrated in the HuVarBase, can be searched with options to display, visualize and download the results.

摘要

如果能够将多个资源中可用的变异数据整合到一个单一的综合资源中,并结合序列和结构特征,那么人类变异数据库将能够得到更好的利用。这种整合将有助于分析变异,以进行疾病预测、预防或治疗。HuVarBase(HUmanVARiantdataBASE)将蛋白质水平和基因水平的公开可用的人类变异数据整合到一个综合资源中。蛋白质水平的数据,如突变残基的氨基酸序列、二级结构、结构域、功能、亚细胞定位和翻译后修饰,与基因水平的数据,如基因名称、染色体数量和基因组位置、DNA 突变、突变类型起源和 rs ID 号,进行了整合。数据库还为致病变异添加了疾病类别。该数据库可在 https://www.iitm.ac.in/bioinfo/huvarbase 上公开获取。HuVarBase 整合了 774,863 条变异记录,用户可以通过该数据库提供的搜索选项来搜索、可视化和下载结果。

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