Detection and analysis of disease-associated single nucleotide polymorphism influencing post-translational modification

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dc.contributor.authorKim, Yulko
dc.contributor.authorKang, Chiyongko
dc.contributor.authorMin, Bumkiko
dc.contributor.authorYi, Gwan-Suko
dc.date.accessioned2016-07-25T08:28:25Z-
dc.date.available2016-07-25T08:28:25Z-
dc.date.created2016-07-13-
dc.date.created2016-07-13-
dc.date.issued2015-
dc.identifier.citationBMC MEDICAL GENOMICS, v.8-
dc.identifier.issn1755-8794-
dc.identifier.urihttp://hdl.handle.net/10203/211888-
dc.description.abstractPost-translational modification (PTM) plays a crucial role in biological functions and corresponding disease developments. Discovering disease-associated non-synonymous SNPs (nsSNPs) altering PTM sites can help to estimate the various PTM candidates involved in diseases, therefore, an integrated analysis between SNPs, PTMs and diseases is necessary. However, only a few types of PTMs affected by nsSNPs have been studied without considering disease-association until now. In this study, we developed a new database called PTM-SNP which contains a comprehensive collection of human nsSNPs that affect PTM sites, together with disease information. Total 179,325 PTM-SNPs were collected by aligning missense SNPs and stop-gain SNPs on PTM sites (position 0) or their flanking region (position -7 to 7). Disease-associated SNPs from GWAS catalogs were also matched with detected PTM-SNP to find disease associated PTM-SNPs. Our result shows PTM-SNPs are highly associated with diseases, compared with other nsSNP sites and functional classes including near gene, intron and so on. PTM-SNP can provide an insight about discovering important PTMs involved in the diseases easily through the web site. PTM-SNP is freely available at http://gcode.kaist.ac.kr/ptmsnp.-
dc.languageEnglish-
dc.publisherBIOMED CENTRAL LTD-
dc.subjectGENOME-WIDE ASSOCIATION-
dc.subjectPHOSPHORYLATION SITES-
dc.subjectDATABASE-
dc.subjectTOOL-
dc.subjectCANCER-
dc.subjectLOCI-
dc.subjectSNPS-
dc.titleDetection and analysis of disease-associated single nucleotide polymorphism influencing post-translational modification-
dc.typeArticle-
dc.identifier.wosid000382997400008-
dc.identifier.scopusid2-s2.0-84962355527-
dc.type.rimsART-
dc.citation.volume8-
dc.citation.publicationnameBMC MEDICAL GENOMICS-
dc.identifier.doi10.1186/1755-8794-8-S2-S7-
dc.contributor.localauthorYi, Gwan-Su-
dc.contributor.nonIdAuthorKang, Chiyong-
dc.description.isOpenAccessY-
dc.type.journalArticleArticle-
dc.subject.keywordPlusGENOME-WIDE ASSOCIATION-
dc.subject.keywordPlusPHOSPHORYLATION SITES-
dc.subject.keywordPlusDATABASE-
dc.subject.keywordPlusTOOL-
dc.subject.keywordPlusCANCER-
dc.subject.keywordPlusLOCI-
dc.subject.keywordPlusSNPS-
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