ArticleBMC medical genomics2015
Detection and analysis of disease-associated single nucleotide polymorphism influencing post-translational modification.
Article in BMC medical genomics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 37 citations in OpenAlex.
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- Interleukin-17-A multifaceted cytokine in viral infections.Journal of cellular physiology · 2021Review
- A global map of associations between types of protein posttranslational modifications and human genetic diseases.iScience · 2021Article
- Understanding and Exploiting Post-Translational Modifications for Plant Disease Resistance.Biomolecules · 2021Review
- The Burden of Post-Translational Modification (PTM)-Disrupting Mutations in the Tumor Matrisome.Cancers · 2021Article
- RMDisease: a database of genetic variants that affect RNA modifications, with implications for epitranscriptome pathogenesis.Nucleic acids research · 2021Article
- KSP: an integrated method for predicting catalyzing kinases of phosphorylation sites in proteins.BMC genomics · 2020Article
- PRISMOID: a comprehensive 3D structure database for post-translational modifications and mutations with functional impact.Briefings in bioinformatics · 2020Article
- PTMsnp: A Web Server for the Identification of Driver Mutations That Affect Protein Post-translational Modification.Frontiers in cell and developmental biology · 2020Article
- dbPTM in 2019: exploring disease association and cross-talk of post-translational modifications.Nucleic acids research · 2019Article
- Mouse Models and Online Resources for Functional Analysis of Osteoporosis Genome-Wide Association Studies.Frontiers in endocrinology · 2019Review
- DRUM: Inference of Disease-Associated mFrontiers in genetics · 2019Article
- Review
- Connecting the dots in translational bioinformatics: TBC 2014 collection.BMC medical genomics · 2015Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.