Suzuki Takayuki, Bono Hidemasa
Graduate School of Integrated Sciences for Life, Hiroshima University, 3-10-23 Kagamiyama, Higashi-Hiroshima, Hiroshima, 739-0046, Japan.
Genome Editing Innovation Center, Hiroshima University, 3-10-23 Kagamiyama, Higashi-Hiroshima, Hiroshima, 739-0046, Japan.
NPJ Parkinsons Dis. 2024 Aug 17;10(1):160. doi: 10.1038/s41531-024-00776-1.
Human disease-associated gene data are accessible through databases, including the Open Targets Platform, DisGeNET, miRTex, RNADisease, and PubChem. However, missing data entries in such databases are anticipated because of curational errors, biases, and text-mining failures. Additionally, the extensive research on human diseases has led to challenges in registering comprehensive data. The lack of essential data in databases hinders knowledge sharing and should be addressed. Therefore, we propose an analysis pipeline to explore missing entries of unexploited genes in the human disease-associated gene databases. Using this pipeline for genes in Parkinson's disease with oxidative stress revealed two unexploited genes: nuclear protein 1 (NUPR1) and ubiquitin-like with PHD and ring finger domains 2 (UHRF2). This methodology enhances the identification of underrepresented disease-associated genes, facilitating easier access to potential human disease-related functional genes. This study aims to identify unexploited genes for further research and does not include independent experimental validation.
人类疾病相关基因数据可通过多个数据库获取，包括开放靶点平台（Open Targets Platform）、疾病基因网络数据库（DisGeNET）、miRTex、RNA疾病数据库（RNADisease）和化学物质数据库（PubChem）。然而，由于整理错误、偏差和文本挖掘失败，预计此类数据库中会存在数据缺失条目。此外，对人类疾病的广泛研究给全面数据的登记带来了挑战。数据库中缺乏关键数据阻碍了知识共享，这一问题应得到解决。因此，我们提出了一种分析流程，以探索人类疾病相关基因数据库中未开发基因的缺失条目。使用该流程对帕金森病中与氧化应激相关的基因进行分析，发现了两个未开发基因：核蛋白1（NUPR1）和含PHD和泛素样结构域及环指结构域2（UHRF2）。这种方法增强了对代表性不足的疾病相关基因的识别，便于更轻松地获取潜在的人类疾病相关功能基因。本研究旨在识别未开发基因以供进一步研究，不包括独立的实验验证。
