RMDisease: a database of genetic variants that affect RNA modifications, with implications for epitranscriptome pathogenesis.
RMDisease: a database of genetic variants that affect RNA modifications, with implications for epitranscriptome pathogenesis.
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RMDisease：影响 RNA 修饰的遗传变异数据库，对表观转录组发病机制具有影响。
DOI：
10.1093/nar/gkaa790
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发表时间：
2021-01-08
影响因子：
14.9
通讯作者：
Meng J
中科院分区：
文献类型：
--
作者：
Chen K;Song B;Tang Y;Wei Z;Xu Q;Su J;de Magalhães JP;Rigden DJ;Meng J
破译数百万个单核苷酸变异的生物学影响仍然是一个重大挑战。最近的研究表明，RNA修饰在重要的生物学机制中发挥着多种作用，并且与包括多种癌症在内的多种疾病的进展密切相关。为了全面揭示疾病相关变异与其表观转录组干扰之间的关联，我们建立了 RMDisease，这是一个可以影响 RNA 修饰的遗传变异数据库。通过整合18种不同RNA修饰预测工具的预测结果以及303,426个经过实验验证的RNA修饰位点，RMDisease总共鉴定了202,307个可能影响（添加或删除）8种RNA修饰位点（m6A、m5C、m1A、m5U、Ψ、m6Am、m7G和Nm）的人类SNP。其中包括 4,289 个与疾病相关的变异，这些变异可能暗示在表观转录组层发挥作用的疾病发病机制。这些 SNP 进一步注释了重要信息，例如转录后调控（miRNA 结合位点、与 RNA 结合蛋白的相互作用以及选择性剪接），揭示了假定的调控电路。构建了便捷的图形用户界面，支持相关信息的查询、浏览和下载。 RMDisease 应该成为研究遗传变异通过多种 RNA 修饰对表观转录组影响的有用资源，重点关注其潜在的疾病相关性。 RMDisease 可免费访问：www.xjtlu.edu.cn/biologicalsciences/rmd。
Deciphering the biological impacts of millions of single nucleotide variants remains a major challenge. Recent studies suggest that RNA modifications play versatile roles in essential biological mechanisms, and are closely related to the progression of various diseases including multiple cancers. To comprehensively unveil the association between disease-associated variants and their epitranscriptome disturbance, we built RMDisease, a database of genetic variants that can affect RNA modifications. By integrating the prediction results of 18 different RNA modification prediction tools and also 303,426 experimentally-validated RNA modification sites, RMDisease identified a total of 202,307 human SNPs that may affect (add or remove) sites of eight types of RNA modifications (m6A, m5C, m1A, m5U, Ψ, m6Am, m7G and Nm). These include 4,289 disease-associated variants that may imply disease pathogenesis functioning at the epitranscriptome layer. These SNPs were further annotated with essential information such as post-transcriptional regulations (sites for miRNA binding, interaction with RNA-binding proteins and alternative splicing) revealing putative regulatory circuits. A convenient graphical user interface was constructed to support the query, exploration and download of the relevant information. RMDisease should make a useful resource for studying the epitranscriptome impact of genetic variants via multiple RNA modifications with emphasis on their potential disease relevance. RMDisease is freely accessible at: www.xjtlu.edu.cn/biologicalsciences/rmd.
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影响因子：
12.3
作者：
Buels R;Yao E;Diesh CM;Hayes RD;Munoz-Torres M;Helt G;Goodstein DM;Elsik CG;Lewis SE;Stein L;Holmes IH
通讯作者：
Holmes IH
DOI：
10.1016/j.omtn.2018.03.012
发表时间：
2018-06-01
期刊：
Molecular therapy. Nucleic acids
影响因子：
--
作者：
Chen W;Feng P;Yang H;Ding H;Lin H;Chou KC
通讯作者：
Chou KC
影响因子：
14.9
作者：
Buniello, Annalisa;MacArthur, Jacqueline A. L.;Parkinson, Helen
通讯作者：
Parkinson, Helen
影响因子：
2.9
作者：
Chen, Wei;Feng, Pengmian;Chou, Kuo-Chen
通讯作者：
Chou, Kuo-Chen
影响因子：
16.6
作者：
Chen, Kai;Lu, Zhike;Wang, Xiao;Fu, Ye;Luo, Guan-Zheng;Liu, Nian;Han, Dali;Dominissini, Dan;Dai, Qing;Pan, Tao;He, Chuan
通讯作者：
He, Chuan