DiseaseEnhancer: a resource of human disease-associated enhancer catalog

被引:62
作者
Zhang, Guanxiong [1 ]
Shi, Jian [1 ]
Zhu, Shiwei [1 ]
Lan, Yujia [1 ]
Xu, Liwen [1 ]
Yuan, Huating [1 ]
Liao, Gaoming [1 ]
Liu, Xiaoqin [1 ]
Zhang, Yunpeng [1 ]
Xiao, Yun [1 ]
Li, Xia [1 ]
机构
[1] Harbin Med Univ, Coll Bioinformat Sci & Technol, Harbin 150081, Heilongjiang, Peoples R China
基金
中国博士后科学基金; 国家高技术研究发展计划(863计划); 中国国家自然科学基金;
关键词
HI-C; EXPRESSION; REARRANGEMENTS; CONFORMATION; INTERACTOME; MUTATIONS; LANDSCAPE; DATABASE; REVEALS; CAPTURE;
D O I
10.1093/nar/gkx920
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Large-scale sequencing studies discovered substantial genetic variants occurring in enhancers which regulate genes via long range chromatin interactions. Importantly, such variants could affect enhancer regulation by changing transcription factor bindings or enhancer hijacking, and in turn, make an essential contribution to disease progression. To facilitate better usage of published data and exploring enhancer deregulation in various human diseases, we created DiseaseEnhancer (http://biocc.hrbmu.edu.cn/DiseaseEnhancer/), a manually curated database for disease-associated enhancers. As of July 2017, DiseaseEnhancer includes 847 disease-associated enhancers in 143 human diseases. Database features include basic enhancer information (i.e. genomic location and target genes); disease types; associated variants on the enhancer and their mediated phenotypes (i.e. gain/loss of enhancer and the alterations of transcription factor bindings). We also include a feature on our website to export any query results into a file and download the full database. DiseaseEnhancer provides a promising avenue for researchers to facilitate the understanding of enhancer deregulation in disease pathogenesis, and identify new biomarkers for disease diagnosis and therapy.
引用
收藏
页码:D78 / D84
页数:7
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