PolyDoms
An integrated database of human coding single nucleotide polymorphisms (SNPs) and their annotations.
Description
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An integrated database of human coding single nucleotide polymorphisms (SNPs) and their annotations.
metasource: Fairsharing.orgversion: FAIRsharing.org: PolyDoms; PolyDoms; DOI: https://doi.org/10.25504/FAIRsharing.c1rep3; Last edited: April 26, 2021, 8:43 a.m.; Last accessed: Jan 03 2022 7:07 p.m.
PolyDoms is an integrated database of human coding SNPs and related data. Unlike other databases of similar nature, apart from integrating several cSNP and protein-related information resources, we predict the implications of the non-synonymous SNPs using two well known algorithms (SIFT and PolyPhen). All these results are presented in an intuitive visualization that depicts the cSNPs mapped onto protein domains and highlights those nsSNPs that are potentially damaging/deleterious or have been reported as disease allelic variants (based on OMIM). The query interface also supports searching for a list of proteins associated with any gene ontology term, pathway, disease term, or gene family. Results can also be downloaded as a spreadsheet. The visualization page also provides links to several other related sources and dynamic links to literature references. We strongly believe that the nsSNPs that are predicted to be functional upon evolutionary conservation analysis and are located in functional protein domains and/or motifs constitute an excellent resource for specific molecular studies to elucidate the direct consequences of these variations on protein function and interaction, which could also eventually help the molecular epidemiology and genetic studies aiming to reveal the genetic variationdisease risk association.
metasource: Nucleic Acid Research database catalogueversion: extracted_at: 2022-11-04T11:16:25.468657
Webpage:
http://polydoms.cchmc.orgWebpage
More detailed information about this field from each metasource.
http://polydoms.cchmc.org
metasource: Fairsharing.orgversion: FAIRsharing.org: PolyDoms; PolyDoms; DOI: https://doi.org/10.25504/FAIRsharing.c1rep3; Last edited: April 26, 2021, 8:43 a.m.; Last accessed: Jan 03 2022 7:07 p.m.
http://polydoms.cchmc.org/
metasource: Nucleic Acid Research database catalogueversion: extracted_at: 2022-11-04T11:16:25.468657
Publications:
Publications
More detailed information about this field from each metasource.
PolyDoms: a whole genome database for the identification of non-synonymous coding SNPs with the potential to impact disease
PMID: 17142238
metasource: Fairsharing.org
version: FAIRsharing.org: PolyDoms; PolyDoms; DOI: https://doi.org/10.25504/FAIRsharing.c1rep3; Last edited: April 26, 2021, 8:43 a.m.; Last accessed: Jan 03 2022 7:07 p.m.
Publications
More detailed information about this field from each metasource.
PolyDoms: a whole genome database for the identification of non-synonymous coding SNPs with the potential to impact disease
PMID: 17142238
metasource: Fairsharing.org
version: FAIRsharing.org: PolyDoms; PolyDoms; DOI: https://doi.org/10.25504/FAIRsharing.c1rep3; Last edited: April 26, 2021, 8:43 a.m.; Last accessed: Jan 03 2022 7:07 p.m.
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PolyDoms: a whole genome database for the identification of non-synonymous coding SNPs with the potential to impact disease
PubMed citations: 32.
32 articles citing: PolyDoms: a whole genome database for the identification of non-synonymous coding SNPs with the potential to impact disease
Impact of genetic variation on three dimensional structure and function of proteins. PMID:28296894
Annotating Mutational Effects on Proteins and Protein Interactions: Designing Novel and Revisiting Existing Protocols. PMID:28188534
Nine susceptibility loci for hepatitis B virus-related hepatocellular carcinoma identified by a pilot two-stage genome-wide association study. PMID:26870257
Large-scale evaluation of common variation in regulatory T cell-related genes and ovarian cancer outcome. PMID:24764580
Towards precision medicine: advances in computational approaches for the analysis of human variants. PMID:23962656
Candidate gene association studies: a comprehensive guide to useful in silico tools. PMID:23656885
Chapter 15: disease gene prioritization. PMID:23633938
Extrapolating the effect of deleterious nsSNPs in the binding adaptability of flavopiridol with CDK7 protein: a molecular dynamics approach. PMID:23561625
Personalized medicine: hope or hype? PMID:22659199
regSNPs: a strategy for prioritizing regulatory single nucleotide substitutions. PMID:22611130
Evolutionary dynamics of human autoimmune disease genes and malfunctioned immunological genes. PMID:22276655
SNPdbe: constructing an nsSNP functional impacts database. PMID:22210871
Genome sequence and global sequence variation map with 5.5 million SNPs in Chinese rhesus macaque. PMID:21733155
Brain expression quantitative trait locus mapping informs genetic studies of psychiatric diseases. PMID:21441974
Meet me halfway: when genomics meets structural bioinformatics. PMID:21350909
Pharmacogenetics of drug metabolizing enzymes and transporters: effects on pharmacokinetics and pharmacodynamics of anticancer agents. PMID:21194402
Data-driven assessment of eQTL mapping methods. PMID:20849587
Clinical assessment incorporating a personal genome. PMID:20435227
Evolving molecular diagnostics for familial cardiomyopathies: at the heart of it all. PMID:20370590
Bioinformatic tools for identifying disease gene and SNP candidates. PMID:20238089
In silico functional profiling of human disease-associated and polymorphic amino acid substitutions. PMID:20052762
CanProVar: a human cancer proteome variation database. PMID:20052754
Evaluation of probabilistic and logical inference for a SNP annotation system. PMID:20015478
PhosSNP for systematic analysis of genetic polymorphisms that influence protein phosphorylation. PMID:19995808
From SNPs to pathways: integration of functional effect of sequence variations on models of cell signalling pathways. PMID:19758470
Gene Prospector: an evidence gateway for evaluating potential susceptibility genes and interacting risk factors for human diseases. PMID:19063745
SysPIMP: the web-based systematical platform for identifying human disease-related mutated sequences from mass spectrometry. PMID:19036792
The human ERG1 channel polymorphism, K897T, creates a phosphorylation site that inhibits channel activity. PMID:18791070
Systematic biological prioritization after a genome-wide association study: an application to nicotine dependence. PMID:18565990
Single nucleotide polymorphisms (SNPs) in coding regions of canine dopamine- and serotonin-related genes. PMID:18226236
coliSNP database server mapping nsSNPs on protein structures. PMID:17921498
MutDB: update on development of tools for the biochemical analysis of genetic variation. PMID:17827212
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Tags
More detailed information about this field from each metasource.
annotation
metasource: Fairsharing.org
version: FAIRsharing.org: PolyDoms; PolyDoms; DOI: https://doi.org/10.25504/FAIRsharing.c1rep3; Last edited: April 26, 2021, 8:43 a.m.; Last accessed: Jan 03 2022 7:07 p.m.
deoxyribonucleic acid
metasource: Fairsharing.org
version: FAIRsharing.org: PolyDoms; PolyDoms; DOI: https://doi.org/10.25504/FAIRsharing.c1rep3; Last edited: April 26, 2021, 8:43 a.m.; Last accessed: Jan 03 2022 7:07 p.m.
single nucleotide polymorphism
metasource: Fairsharing.org
version: FAIRsharing.org: PolyDoms; PolyDoms; DOI: https://doi.org/10.25504/FAIRsharing.c1rep3; Last edited: April 26, 2021, 8:43 a.m.; Last accessed: Jan 03 2022 7:07 p.m.
human genes and diseases
metasource: Nucleic Acid Research database catalogue
version: extracted_at: 2022-11-04T11:16:25.468657
general polymorphism databases
metasource: Nucleic Acid Research database catalogue
version: extracted_at: 2022-11-04T11:16:25.468657
Tags
More detailed information about this field from each metasource.
annotation
metasource: Fairsharing.orgversion: FAIRsharing.org: PolyDoms; PolyDoms; DOI: https://doi.org/10.25504/FAIRsharing.c1rep3; Last edited: April 26, 2021, 8:43 a.m.; Last accessed: Jan 03 2022 7:07 p.m.
deoxyribonucleic acid
metasource: Fairsharing.orgversion: FAIRsharing.org: PolyDoms; PolyDoms; DOI: https://doi.org/10.25504/FAIRsharing.c1rep3; Last edited: April 26, 2021, 8:43 a.m.; Last accessed: Jan 03 2022 7:07 p.m.
single nucleotide polymorphism
metasource: Fairsharing.orgversion: FAIRsharing.org: PolyDoms; PolyDoms; DOI: https://doi.org/10.25504/FAIRsharing.c1rep3; Last edited: April 26, 2021, 8:43 a.m.; Last accessed: Jan 03 2022 7:07 p.m.
human genes and diseases
metasource: Nucleic Acid Research database catalogueversion: extracted_at: 2022-11-04T11:16:25.468657
general polymorphism databases
metasource: Nucleic Acid Research database catalogueversion: extracted_at: 2022-11-04T11:16:25.468657
dna single nucleotide polymorphism human genes and diseases polymorphism
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