DC Field | Value | Language |
---|---|---|
dc.contributor.author | Kim, Yul | ko |
dc.contributor.author | Kang, Chiyong | ko |
dc.contributor.author | Min, Bumki | ko |
dc.contributor.author | Yi, Gwan-Su | ko |
dc.date.accessioned | 2016-07-25T08:28:25Z | - |
dc.date.available | 2016-07-25T08:28:25Z | - |
dc.date.created | 2016-07-13 | - |
dc.date.created | 2016-07-13 | - |
dc.date.issued | 2015 | - |
dc.identifier.citation | BMC MEDICAL GENOMICS, v.8 | - |
dc.identifier.issn | 1755-8794 | - |
dc.identifier.uri | http://hdl.handle.net/10203/211888 | - |
dc.description.abstract | Post-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.language | English | - |
dc.publisher | BIOMED CENTRAL LTD | - |
dc.subject | GENOME-WIDE ASSOCIATION | - |
dc.subject | PHOSPHORYLATION SITES | - |
dc.subject | DATABASE | - |
dc.subject | TOOL | - |
dc.subject | CANCER | - |
dc.subject | LOCI | - |
dc.subject | SNPS | - |
dc.title | Detection and analysis of disease-associated single nucleotide polymorphism influencing post-translational modification | - |
dc.type | Article | - |
dc.identifier.wosid | 000382997400008 | - |
dc.identifier.scopusid | 2-s2.0-84962355527 | - |
dc.type.rims | ART | - |
dc.citation.volume | 8 | - |
dc.citation.publicationname | BMC MEDICAL GENOMICS | - |
dc.identifier.doi | 10.1186/1755-8794-8-S2-S7 | - |
dc.contributor.localauthor | Yi, Gwan-Su | - |
dc.contributor.nonIdAuthor | Kang, Chiyong | - |
dc.description.isOpenAccess | Y | - |
dc.type.journalArticle | Article | - |
dc.subject.keywordPlus | GENOME-WIDE ASSOCIATION | - |
dc.subject.keywordPlus | PHOSPHORYLATION SITES | - |
dc.subject.keywordPlus | DATABASE | - |
dc.subject.keywordPlus | TOOL | - |
dc.subject.keywordPlus | CANCER | - |
dc.subject.keywordPlus | LOCI | - |
dc.subject.keywordPlus | SNPS | - |
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