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3DBIONOTES v3.0:跨越分子和结构生物学数据与基因组变异。

3DBIONOTES v3.0: crossing molecular and structural biology data with genomic variations.

机构信息

Spanish National Institute for Bioinformatics (INB ELIXIR-ES) and Biocomputing Unit, National Centre of Biotechnology (CSIC)/Instruct Image Processing Centre, Madrid, Spain.

出版信息

Bioinformatics. 2019 Sep 15;35(18):3512-3513. doi: 10.1093/bioinformatics/btz118.

Abstract

MOTIVATION

Many diseases are associated to single nucleotide polymorphisms that affect critical regions of proteins as binding sites or post translational modifications. Therefore, analysing genomic variants with structural and molecular biology data is a powerful framework in order to elucidate the potential causes of such diseases.

RESULTS

A new version of our web framework 3DBIONOTES is presented. This version offers new tools to analyse and visualize protein annotations and genomic variants, including a contingency analysis of variants and amino acid features by means of a Fisher exact test, the integration of a gene annotation viewer to highlight protein features on gene sequences and a protein-protein interaction viewer to display protein annotations at network level.

AVAILABILITY AND IMPLEMENTATION

The web server is available at https://3dbionotes.cnb.csic.es.

SUPPLEMENTARY INFORMATION

Supplementary data are available at Bioinformatics online.

CONTACT

Spanish National Institute for Bioinformatics (INB ELIXIR-ES) and Biocomputing Unit, National Centre of Biotechnology (CSIC)/Instruct Image Processing Centre, C/ Darwin nº 3, Campus of Cantoblanco, 28049 Madrid, Spain.

摘要

动机

许多疾病都与单核苷酸多态性有关,这些多态性会影响蛋白质的关键区域,如结合位点或翻译后修饰。因此,分析具有结构和分子生物学数据的基因组变体是阐明此类疾病潜在原因的有力框架。

结果

提出了我们的 3DBIONOTES 网络框架的新版本。该版本提供了新的工具来分析和可视化蛋白质注释和基因组变体,包括通过 Fisher 精确检验对变体和氨基酸特征进行的 contingency 分析、集成基因注释查看器以突出基因序列上的蛋白质特征以及蛋白质-蛋白质相互作用查看器以在网络级别显示蛋白质注释。

可用性和实现

该网络服务器可在 https://3dbionotes.cnb.csic.es 获得。

补充信息

补充数据可在 Bioinformatics 在线获得。

联系方式

西班牙国家生物信息学研究所 (INB ELIXIR-ES) 和生物计算单位,国家生物技术中心 (CSIC)/Instruct 图像处理中心,Cantoblanco 校区 Darwin 3 号,28049 马德里,西班牙。

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本文引用的文献

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UniProt: a worldwide hub of protein knowledge.UniProt:蛋白质知识的全球枢纽。
Nucleic Acids Res. 2019 Jan 8;47(D1):D506-D515. doi: 10.1093/nar/gky1049.
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Ensembl 2018.Ensembl 2018.
Nucleic Acids Res. 2018 Jan 4;46(D1):D754-D761. doi: 10.1093/nar/gkx1098.
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RAS Proteins and Their Regulators in Human Disease.人类疾病中的RAS蛋白及其调节因子
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