In silico SNP Analysis and 3D Structure Prediction of Human ERG Proto-Oncogene.

IF 3.5 4区医学 Q3 ONCOLOGY

Current cancer drug targets Pub Date : 2025-10-17 DOI:10.2174/0115680096397391251003112744

Syed Ali Raza Shah, Sumra Wajid Abbasi, Rida Fatima Saeed, Sumaira Sharif, Iffat Nayila

{"title":"In silico SNP Analysis and 3D Structure Prediction of Human ERG Proto-Oncogene.","authors":"Syed Ali Raza Shah, Sumra Wajid Abbasi, Rida Fatima Saeed, Sumaira Sharif, Iffat Nayila","doi":"10.2174/0115680096397391251003112744","DOIUrl":null,"url":null,"abstract":"Introduction: Single-nucleotide polymorphisms (SNPs) are the major source of attraction for researchers as they significantly contribute to an individual's susceptibility to various diseases, as well as provide an insight into new diseases associated with a particular gene.Methods: In this study, the data were retrieved from dbSNP till July 2021. DbSNP showed 103738 total SNPs in the human ERG gene, and out of them, 377 missense SNPs were selected for analysis. Twenty-six missense SNPs were found to be deleterious in all five SNP tools (SIFT, PolyPhen-2, Condel, PHD-SNP, SNPs&GO). These 26 SNPs were further checked for protein stability by iStable, I-Mutant, and MuPro. Collectively, 23 SNPs showed to decrease the protein stability. A comparison of the 3D structures of the wild type (predicted by trRosetta) and the mutated type was visualized using the Chimera tool.Results: Post-translational modifications identified T180, R302, S356, and Y452 as clinically significant sites, as they were involved in phosphorylation and methylation.Discussion: In this study, in silico SNP analysis was performed on the human ERG gene. ERG's involvement in various types of diseases, as well as cancer, has made it a source of interest. It is an oncogene that is not only involved in the germ line differentiation of hemo-poietic stem cells, but is also involved in cell proliferation, embryonic development, angiogenesis, inflammation, and apoptosis.Conclusion: This study has provided detailed information on missense SNPs of the ERG gene. This work can be significant in the detection of genetic diseases and drug discovery, as it has shown involvement of the ERG gene.","PeriodicalId":10816,"journal":{"name":"Current cancer drug targets","volume":" ","pages":""},"PeriodicalIF":3.5000,"publicationDate":"2025-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current cancer drug targets","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.2174/0115680096397391251003112744","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"ONCOLOGY","Score":null,"Total":0}

引用次数: 0

Abstract

Introduction: Single-nucleotide polymorphisms (SNPs) are the major source of attraction for researchers as they significantly contribute to an individual's susceptibility to various diseases, as well as provide an insight into new diseases associated with a particular gene.

Methods: In this study, the data were retrieved from dbSNP till July 2021. DbSNP showed 103738 total SNPs in the human ERG gene, and out of them, 377 missense SNPs were selected for analysis. Twenty-six missense SNPs were found to be deleterious in all five SNP tools (SIFT, PolyPhen-2, Condel, PHD-SNP, SNPs&GO). These 26 SNPs were further checked for protein stability by iStable, I-Mutant, and MuPro. Collectively, 23 SNPs showed to decrease the protein stability. A comparison of the 3D structures of the wild type (predicted by trRosetta) and the mutated type was visualized using the Chimera tool.

Results: Post-translational modifications identified T180, R302, S356, and Y452 as clinically significant sites, as they were involved in phosphorylation and methylation.

Discussion: In this study, in silico SNP analysis was performed on the human ERG gene. ERG's involvement in various types of diseases, as well as cancer, has made it a source of interest. It is an oncogene that is not only involved in the germ line differentiation of hemo-poietic stem cells, but is also involved in cell proliferation, embryonic development, angiogenesis, inflammation, and apoptosis.

Conclusion: This study has provided detailed information on missense SNPs of the ERG gene. This work can be significant in the detection of genetic diseases and drug discovery, as it has shown involvement of the ERG gene.

查看原文本刊更多论文

人ERG原癌基因的芯片SNP分析及三维结构预测。

单核苷酸多态性（snp）是吸引研究人员的主要来源，因为它们显著地促进了个体对各种疾病的易感性，并提供了与特定基因相关的新疾病的见解。方法：本研究从dbSNP检索到2021年7月的数据。DbSNP在人ERG基因中共显示103738个snp，从中选取377个错义snp进行分析。在所有五种SNP工具（SIFT, polyphen2, Condel, PHD-SNP, SNPs&GO）中发现26个错义SNP是有害的。用iStable、I-Mutant和MuPro进一步检测这26个snp的蛋白稳定性。总共有23个snp显示降低了蛋白质的稳定性。使用Chimera工具对野生型（由trRosetta预测）和突变型的3D结构进行了可视化比较。结果：翻译后修饰鉴定出T180、R302、S356和Y452是具有临床意义的位点，因为它们参与磷酸化和甲基化。讨论：在本研究中，对人类ERG基因进行了硅SNP分析。ERG参与多种疾病，包括癌症，使其成为一个有趣的来源。它是一种致癌基因，不仅参与造血干细胞的种系分化，还参与细胞增殖、胚胎发育、血管生成、炎症和凋亡。结论：本研究提供了ERG基因错义snp的详细信息。这项工作在遗传疾病的检测和药物发现方面具有重要意义，因为它显示了ERG基因的参与。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Current cancer drug targets 医学-肿瘤学

CiteScore

5.40

自引率

0.00%

发文量

105

审稿时长

1 months

期刊介绍： Current Cancer Drug Targets aims to cover all the latest and outstanding developments on the medicinal chemistry, pharmacology, molecular biology, genomics and biochemistry of contemporary molecular drug targets involved in cancer, e.g. disease specific proteins, receptors, enzymes and genes. Current Cancer Drug Targets publishes original research articles, letters, reviews / mini-reviews, drug clinical trial studies and guest edited thematic issues written by leaders in the field covering a range of current topics on drug targets involved in cancer. As the discovery, identification, characterization and validation of novel human drug targets for anti-cancer drug discovery continues to grow; this journal has become essential reading for all pharmaceutical scientists involved in drug discovery and development.