iRegNet3D: three-dimensional integrated regulatory network for the genomic analysis of coding and non-coding disease mutations

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• 作者：Siqi Liang ; Nathaniel D. Tippens ; Yaoda Zhou ; Matthew Mort…
• 关键词：iRegNet3D ; Transcriptional regulation ; TF ; DNA interaction network ; TF ; TF interaction network ; Chromatin interaction network ; Inherited disease ; Disease ; associated mutation ; Missense mutation ; Non ; coding mutation
• 刊名：Genome Biology
• 出版年：2017
• 出版时间：December 2017
• 年：2017
• 卷：18
• 期：1
• 全文大小：2116KB
• 刊物主题：Animal Genetics and Genomics; Human Genetics; Plant Genetics & Genomics; Microbial Genetics and Genomics; Bioinformatics; Evolutionary Biology;
• 出版者：BioMed Central
• ISSN：1474-760X
• 卷排序：18

文摘

The mechanistic details of most disease-causing mutations remain poorly explored within the context of regulatory networks. We present a high-resolution three-dimensional integrated regulatory network (iRegNet3D) in the form of a web tool, where we resolve the interfaces of all known transcription factor (TF)-TF, TF-DNA and chromatin-chromatin interactions for the analysis of both coding and non-coding disease-associated mutations to obtain mechanistic insights into their functional impact. Using iRegNet3D, we find that disease-associated mutations may perturb the regulatory network through diverse mechanisms including chromatin looping. iRegNet3D promises to be an indispensable tool in large-scale sequencing and disease association studies.