| URL: | http://gcode.kaist.ac.kr/ptmsnp |
| Full name: | Database of disease-associated Single Nucleotide Polymorphism influencing Post-Translational Modification |
| Description: | A new database called PTM-SNP was developed which contains a comprehensive collection of human nsSNPs that affect PTM sites, together with disease information. PTM-SNP can provide an insight about discovering important PTMs involved in the diseases easily through the web site. |
| Year founded: | 2015 |
| Last update: | |
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| Accessibility: |
Unaccessible
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| Country/Region: | Korea, Republic of |
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| University/Institution: | Korea Advanced Institute of Science and Technology |
| Address: | Department of Bio and Brain Engineering, Korea Advanced Institute of Science and Technology(KAIST), Daejeon, South Korea |
| City: | Daejeon |
| Province/State: | |
| Country/Region: | Korea, Republic of |
| Contact name (PI/Team): | Gwan-Su Yi |
| Contact email (PI/Helpdesk): | jollyky@kaist.ac.kr |
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Detection and analysis of disease-associated single nucleotide polymorphism influencing post-translational modification. [PMID: 26043787]
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. |