Abstract:
: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.
journal_name
Nucleic Acids Resjournal_title
Nucleic acids researchauthors
Zhang G,Shi J,Zhu S,Lan Y,Xu L,Yuan H,Liao G,Liu X,Zhang Y,Xiao Y,Li Xdoi
10.1093/nar/gkx920subject
Has Abstractpub_date
2018-01-04 00:00:00pages
D78-D84issue
D1eissn
0305-1048issn
1362-4962pii
4559115journal_volume
46pub_type
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