Sun Yat-sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Sun Yat-sen University, Guangzhou 510060, China.
State Key Laboratory of Biocontrol, School of Life Sciences, Sun Yat-sen University, Guangzhou, Guangdong 510275, China.
Nucleic Acids Res. 2018 Jan 4;46(D1):D139-D145. doi: 10.1093/nar/gkx895.
Identifying disease-causing variants among a large number of single nucleotide variants (SNVs) is still a major challenge. Recently, N6-methyladenosine (m6A) has become a research hotspot because of its critical roles in many fundamental biological processes and a variety of diseases. Therefore, it is important to evaluate the effect of variants on m6A modification, in order to gain a better understanding of them. Here, we report m6AVar (http://m6avar.renlab.org), a comprehensive database of m6A-associated variants that potentially influence m6A modification, which will help to interpret variants by m6A function. The m6A-associated variants were derived from three different m6A sources including miCLIP/PA-m6A-seq experiments (high confidence), MeRIP-Seq experiments (medium confidence) and transcriptome-wide predictions (low confidence). Currently, m6AVar contains 16 132 high, 71 321 medium and 326 915 low confidence level m6A-associated variants. We also integrated the RBP-binding regions, miRNA-targets and splicing sites associated with variants to help users investigate the effect of m6A-associated variants on post-transcriptional regulation. Because it integrates the data from genome-wide association studies (GWAS) and ClinVar, m6AVar is also a useful resource for investigating the relationship between the m6A-associated variants and disease. Overall, m6AVar will serve as a useful resource for annotating variants and identifying disease-causing variants.
在大量单核苷酸变异 (SNVs) 中鉴定致病变异仍然是一个主要挑战。最近,N6-甲基腺苷 (m6A) 因其在许多基本生物过程和多种疾病中的关键作用而成为研究热点。因此,评估变异对 m6A 修饰的影响对于更好地理解它们非常重要。在这里,我们报告了 m6AVar(http://m6avar.renlab.org),这是一个包含可能影响 m6A 修饰的 m6A 相关变异的综合数据库,这将有助于通过 m6A 功能解释变异。m6A 相关变异来自三个不同的 m6A 来源,包括 miCLIP/PA-m6A-seq 实验(高可信度)、MeRIP-Seq 实验(中可信度)和转录组广泛预测(低可信度)。目前,m6AVar 包含 16132 个高可信度、71321 个中可信度和 326915 个低可信度水平的 m6A 相关变异。我们还整合了与变异相关的 RBP 结合区域、miRNA 靶标和剪接位点,以帮助用户研究 m6A 相关变异对转录后调控的影响。由于它整合了全基因组关联研究 (GWAS) 和 ClinVar 的数据,m6AVar 也是研究 m6A 相关变异与疾病之间关系的有用资源。总的来说,m6AVar 将成为注释变异和识别致病变异的有用资源。