School of Science and Engineering, University of the Sunshine Coast, Maroochydore DC, Queensland, 4558, Australia.
Center for Bioinformatics, State Key Laboratory of Protein and Plant Gene Research, College of Life Sciences, Peking University, Beijing, 100871, P. R. China.
BMC Genomics. 2020 Oct 29;21(1):750. doi: 10.1186/s12864-020-07172-y.
Circular RNAs (circRNAs) play important roles in regulating gene expression through binding miRNAs and RNA binding proteins. Genetic variation of circRNAs may affect complex traits/diseases by changing their binding efficiency to target miRNAs and proteins. There is a growing demand for investigations of the functions of genetic changes using large-scale experimental evidence. However, there is no online genetic resource for circRNA genes.
We performed extensive genetic annotation of 295,526 circRNAs integrated from circBase, circNet and circRNAdb. All pre-computed genetic variants were presented at our online resource, circVAR, with data browsing and search functionality. We explored the chromosome-based distribution of circRNAs and their associated variants. We found that, based on mapping to the 1000 Genomes and ClinVAR databases, chromosome 17 has a relatively large number of circRNAs and associated common and health-related genetic variants. Following the annotation of genome wide association studies (GWAS)-based circRNA variants, we found many non-coding variants within circRNAs, suggesting novel mechanisms for common diseases reported from GWAS studies. For cancer-based somatic variants, we found that chromosome 7 has many highly complex mutations that have been overlooked in previous research.
We used the circVAR database to collect SNPs and small insertions and deletions (INDELs) in putative circRNA regions and to identify their potential phenotypic information. To provide a reusable resource for the circRNA research community, we have published all the pre-computed genetic data concerning circRNAs and associated genes together with data query and browsing functions at http://soft.bioinfo-minzhao.org/circvar .
环状 RNA(circRNAs)通过结合 miRNA 和 RNA 结合蛋白在调节基因表达方面发挥重要作用。circRNAs 的遗传变异可能通过改变其与靶 miRNA 和蛋白质的结合效率来影响复杂性状/疾病。越来越需要使用大规模实验证据来研究遗传变化的功能。然而,目前还没有针对 circRNA 基因的在线遗传资源。
我们对从 circBase、circNet 和 circRNAdb 集成的 295526 个 circRNA 进行了广泛的遗传注释。所有预先计算的遗传变异都在我们的在线资源 circVAR 中呈现,具有数据浏览和搜索功能。我们探讨了 circRNA 及其相关变体基于染色体的分布。我们发现,根据对 1000 基因组和 ClinVAR 数据库的映射,17 号染色体有相对较多的 circRNAs 和相关的常见和与健康相关的遗传变异。在注释基于全基因组关联研究(GWAS)的 circRNA 变体后,我们在 circRNA 内发现了许多非编码变体,这表明从 GWAS 研究中报告的常见疾病有新的机制。对于基于癌症的体细胞变体,我们发现 7 号染色体有许多以前的研究中被忽视的高度复杂的突变。
我们使用 circVAR 数据库收集假定 circRNA 区域中的 SNP 和小插入缺失(INDEL),并确定它们潜在的表型信息。为了为 circRNA 研究界提供可重复使用的资源,我们一起发布了所有预先计算的关于 circRNAs 及其相关基因的遗传数据,以及数据查询和浏览功能,网址为 http://soft.bioinfo-minzhao.org/circvar。