Zhou Nan, Peng Li, Zhang Zhiyu, Luo Qiqi, Sun Huiran, Bao Jinku, Ning Yuping, Yuan Xiaoqing
Research Center, The Affiliated Brain Hospital, Guangzhou Medical University, Guangzhou 510370, China.
Medical Research Center, Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation, Guangdong-Hong Kong Joint Laboratory for RNA Medicine, Medical Research Center, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou 510120, China.
Comput Struct Biotechnol J. 2024 Nov 5;23:3955-3966. doi: 10.1016/j.csbj.2024.11.009. eCollection 2024 Dec.
Circular extrachromosomal DNA (ecDNA) plays a crucial role in the onset, progression, and evolution of many types of cancers, with dysregulated gene expression driven by ecDNA as a key mechanism. Although database resources for ecDNA are now available, a sophisticated web application dedicated to ecDNA gene analysis remains absent. Therefore, we developed ecDNA gene analyzer (ECGA). ECGA catalogues 23,274 unique ecDNA genes of 27 cancers across 27 tissues. ECGA also offers five specialized analysis tools: (1) 'Venn analysis' looks for overlaps between a given gene list and ecDNA genes; (2) 'Enrichment analysis' performs over-representation analysis and gene set enrichment analysis of input gene list within predefined ecDNA gene sets; (3) 'Target discovery' identifies upregulated ecDNA genes as targets by comparing with reference expression in normal samples; (4) 'DE analysis' finds differentially expressed ecDNA genes; (5) 'Signature discovery' discerns ecDNA gene signatures capable of classifying samples into phenotypic groups, and it is accompanied by 'Signature validation' for model test on unseen data. In summary, ECGA emerges as an indispensable platform in cancer genetics, bridging gaps in basic research, medical reporting, and pharmaceutical development, and propelling ecDNA research forward. ECGA is freely available at https://www.zhounan.org/ecga/.
环状染色体外DNA(ecDNA)在多种癌症的发生、发展和演变中起着关键作用,ecDNA驱动的基因表达失调是关键机制。尽管现在有ecDNA的数据库资源,但仍缺乏一个专门用于ecDNA基因分析的复杂网络应用程序。因此,我们开发了ecDNA基因分析仪(ECGA)。ECGA编目了27种组织中27种癌症的23274个独特的ecDNA基因。ECGA还提供了五种专门的分析工具:(1)“维恩分析”寻找给定基因列表与ecDNA基因之间的重叠;(2)“富集分析”对预定义的ecDNA基因集中的输入基因列表进行过度表达分析和基因集富集分析;(3)“靶点发现”通过与正常样本中的参考表达进行比较,将上调的ecDNA基因鉴定为靶点;(4)“差异表达分析”找出差异表达的ecDNA基因;(5)“特征发现”识别能够将样本分类为表型组的ecDNA基因特征,并伴有“特征验证”以对未见数据进行模型测试。总之,ECGA成为癌症遗传学中不可或缺的平台,弥合了基础研究、医学报告和药物开发之间的差距,并推动ecDNA研究向前发展。可在https://www.zhounan.org/ecga/免费获取ECGA。