rVarBase: an updated database for regulatory features of human variants

被引:44
作者
Guo, Liyuan [1 ]
Du, Yang [1 ,2 ]
Qu, Susu [1 ,2 ]
Wang, Jing [1 ]
机构
[1] Chinese Acad Sci, Inst Psychol, Key Lab Mental Hlth, Beijing 100101, Peoples R China
[2] Univ Chinese Acad Sci, Beijing, Peoples R China
基金
中国国家自然科学基金;
关键词
GENE-EXPRESSION; INTEGRATIVE ANALYSIS; RESOURCE; ASSOCIATIONS; ANNOTATION; INSIGHTS; TARGETS; MOTIFS;
D O I
10.1093/nar/gkv1107
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
We present here the rVarBase database (http://rv.psych.ac.cn), an updated version of the rSNPBase database, to provide reliable and detailed regulatory annotations for known and novel human variants. This update expands the database to include additional types of human variants, such as copy number variations (CNVs) and novel variants, and include additional types of regulatory features. Now rVarBase annotates variants in three dimensions: chromatin states of the surrounding regions, overlapped regulatory elements and variants' potential target genes. Two new types of regulatory elements (lncRNAs and miRNA target sites) have been introduced to provide additional annotation. Detailed information about variants' overlapping transcription factor binding sites (TFBSs) (often less than 15 bp) within experimentally supported TF-binding regions (similar to 150 bp) is provided, along with the binding motifs of matched TF families. Additional types of extended variants and variant-associated phenotypes were also added. In addition to the enrichment in data content, an element-centric search module was added, and the web interface was refined. In summary, rVarBase hosts more types of human variants and includes more types of up-to-date regulatory information to facilitate in-depth functional research and to provide practical clues for experimental design.
引用
收藏
页码:D888 / D893
页数:6
相关论文
共 37 条
[1]   The role of regulatory variation in complex traits and disease [J].
Albert, Frank W. ;
Kruglyak, Leonid .
NATURE REVIEWS GENETICS, 2015, 16 (04) :197-212
[2]   The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans [J].
Ardlie, Kristin G. ;
DeLuca, David S. ;
Segre, Ayellet V. ;
Sullivan, Timothy J. ;
Young, Taylor R. ;
Gelfand, Ellen T. ;
Trowbridge, Casandra A. ;
Maller, Julian B. ;
Tukiainen, Taru ;
Lek, Monkol ;
Ward, Lucas D. ;
Kheradpour, Pouya ;
Iriarte, Benjamin ;
Meng, Yan ;
Palmer, Cameron D. ;
Esko, Tonu ;
Winckler, Wendy ;
Hirschhorn, Joel N. ;
Kellis, Manolis ;
MacArthur, Daniel G. ;
Getz, Gad ;
Shabalin, Andrey A. ;
Li, Gen ;
Zhou, Yi-Hui ;
Nobel, Andrew B. ;
Rusyn, Ivan ;
Wright, Fred A. ;
Lappalainen, Tuuli ;
Ferreira, Pedro G. ;
Ongen, Halit ;
Rivas, Manuel A. ;
Battle, Alexis ;
Mostafavi, Sara ;
Monlong, Jean ;
Sammeth, Michael ;
Mele, Marta ;
Reverter, Ferran ;
Goldmann, Jakob M. ;
Koller, Daphne ;
Guigo, Roderic ;
McCarthy, Mark I. ;
Dermitzakis, Emmanouil T. ;
Gamazon, Eric R. ;
Im, Hae Kyung ;
Konkashbaev, Anuar ;
Nicolae, Dan L. ;
Cox, Nancy J. ;
Flutre, Timothee ;
Wen, Xiaoquan ;
Stephens, Matthew .
SCIENCE, 2015, 348 (6235) :648-660
[3]   The microRNA.org resource: targets and expression [J].
Betel, Doron ;
Wilson, Manda ;
Gabow, Aaron ;
Marks, Debora S. ;
Sander, Chris .
NUCLEIC ACIDS RESEARCH, 2008, 36 :D149-D153
[4]   Annotation of functional variation in personal genomes using RegulomeDB [J].
Boyle, Alan P. ;
Hong, Eurie L. ;
Hariharan, Manoj ;
Cheng, Yong ;
Schaub, Marc A. ;
Kasowski, Maya ;
Karczewski, Konrad J. ;
Park, Julie ;
Hitz, Benjamin C. ;
Weng, Shuai ;
Cherry, J. Michael ;
Snyder, Michael .
GENOME RESEARCH, 2012, 22 (09) :1790-1797
[5]   Gene Expression in Skin and Lymphoblastoid Cells: Refined Statistical Method Reveals Extensive Overlap in cis-eQTL Signals [J].
Ding, Jun ;
Gudjonsson, Johann E. ;
Liang, Liming ;
Stuart, Philip E. ;
Li, Yun ;
Chen, Wei ;
Weichenthal, Michael ;
Ellinghaus, Eva ;
Franke, Andre ;
Cookson, William ;
Nair, Rajan P. ;
Elder, James T. ;
Abecasis, Goncalo R. .
AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 87 (06) :779-789
[6]   Systematic analysis of noncoding somatic mutations and gene expression alterations across 14 tumor types [J].
Fredriksson, Nils J. ;
Ny, Lars ;
Nilsson, Jonas A. ;
Larsson, Erik .
NATURE GENETICS, 2014, 46 (12) :1258-1263
[7]   Most mammalian mRNAs are conserved targets of microRNAs [J].
Friedman, Robin C. ;
Farh, Kyle Kai-How ;
Burge, Christopher B. ;
Bartel, David P. .
GENOME RESEARCH, 2009, 19 (01) :92-105
[8]   rSNPBase: a database for curated regulatory SNPs [J].
Guo, Liyuan ;
Du, Yang ;
Chang, Suhua ;
Zhang, Kunlin ;
Wang, Jing .
NUCLEIC ACIDS RESEARCH, 2014, 42 (D1) :D1033-D1039
[9]   Human aging in the post-GWAS era: further insights reveal potential regulatory variants [J].
Haider, Syed Aleem ;
Faisal, Muhammad .
BIOGERONTOLOGY, 2015, 16 (04) :529-541
[10]   LongTarget: a tool to predict lncRNA DNA-binding motifs and binding sites via Hoogsteen base-pairing analysis [J].
He, Sha ;
Zhang, Hai ;
Liu, Haihua ;
Zhu, Hao .
BIOINFORMATICS, 2015, 31 (02) :178-186