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SNP@Promoter: a database of human SNPs (Single Nucleotide Polymorphisms) within the putative promoter regions

机译:SNP @启动子:推定的启动子区域内的人类SNP(单核苷酸多态性)数据库

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Background Analysis of single nucleotide polymorphism (SNP) is becoming a key research in genomics fields. Many functional analyses of SNPs have been carried out for coding regions and splicing sites that can alter proteins and mRNA splicing. However, SNPs in non-coding regulatory regions can also influence important biological regulation. Presently, there are few databases for SNPs in non-coding regulatory regions. Description We identified 488,452 human SNPs in the putative promoter regions that extended from the +5000 bp to -500 bp region of the transcription start sites. Some SNPs occurring in transcription factor (TF) binding sites were also predicted (47,832 SNP; 9.8%). The result is stored in a database: SNP@promoter. Users can search the SNP@Promoter database using three entries: 1) by SNP identifier (rs number from dbSNP), 2) by gene (gene name, gene symbol, refSeq ID), and 3) by disease term. The SNP@Promoter database provides extensive genetic information and graphical views of queried terms. Conclusion We present the SNP@Promoter database. It was created in order to predict functional SNPs in putative promoter regions and predicted transcription factor binding sites. SNP@Promoter will help researchers to identify functional SNPs in non-coding regions.
机译:单核苷酸多态性(SNP)的背景分析正在成为基因组学领域的关键研究。已经对可改变蛋白质和mRNA剪接的编码区和剪接位点进行了许多SNP功能分析。但是,非编码调控区中的SNP也会影响重要的生物学调控。当前,在非编码监管区域中很少有SNP数据库。描述我们在推定的启动子区域(从转录起始位点的+5000 bp延伸到-500 bp)延伸了488,452个人类SNP。还预测了在转录因子(TF)结合位点出现的一些SNP(47,832 SNP; 9.8%)。结果存储在数据库中:SNP @ promoter。用户可以使用以下三个条目搜索SNP @ Promoter数据库:1)按SNP标识符(dbSNP中的rs号),2)按基因(基因名称,基因符号,refSeq ID),以及3按疾病术语输入。 SNP @ Promoter数据库提供了广泛的遗传信息和查询术语的图形视图。结论我们介绍了SNP @ Promoter数据库。创建它是为了预测推定的启动子区域中的功能性SNP和预测的转录因子结合位点。 SNP @ Promoter将帮助研究人员识别非编码区域中的功能性SNP。

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