DiseaseEnhancer: a resource of human disease-associated enhancer catalog.

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 Res

journal_title

Nucleic acids research

authors

Zhang G,Shi J,Zhu S,Lan Y,Xu L,Yuan H,Liao G,Liu X,Zhang Y,Xiao Y,Li X

doi

10.1093/nar/gkx920

subject

Has Abstract

pub_date

2018-01-04 00:00:00

pages

D78-D84

issue

D1

eissn

0305-1048

issn

1362-4962

pii

4559115

journal_volume

46

pub_type

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