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SNPdbe: constructing an nsSNP functional impacts database

Summary: Many existing databases annotate experimentally characterized single nucleotide polymorphisms (SNPs). Each non-synonymous SNP (nsSNP) changes one amino acid in the gene product (single amino acid substitution;SAAS). This change can either affect protein function or be neutral in that respec...

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Autores principales: Schaefer, Christian, Meier, Alice, Rost, Burkhard, Bromberg, Yana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3278761/
https://www.ncbi.nlm.nih.gov/pubmed/22210871
http://dx.doi.org/10.1093/bioinformatics/btr705
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author Schaefer, Christian
Meier, Alice
Rost, Burkhard
Bromberg, Yana
author_facet Schaefer, Christian
Meier, Alice
Rost, Burkhard
Bromberg, Yana
author_sort Schaefer, Christian
collection PubMed
description Summary: Many existing databases annotate experimentally characterized single nucleotide polymorphisms (SNPs). Each non-synonymous SNP (nsSNP) changes one amino acid in the gene product (single amino acid substitution;SAAS). This change can either affect protein function or be neutral in that respect. Most polymorphisms lack experimental annotation of their functional impact. Here, we introduce SNPdbe—SNP database of effects, with predictions of computationally annotated functional impacts of SNPs. Database entries represent nsSNPs in dbSNP and 1000 Genomes collection, as well as variants from UniProt and PMD. SAASs come from >2600 organisms; ‘human’ being the most prevalent. The impact of each SAAS on protein function is predicted using the SNAP and SIFT algorithms and augmented with experimentally derived function/structure information and disease associations from PMD, OMIM and UniProt. SNPdbe is consistently updated and easily augmented with new sources of information. The database is available as an MySQL dump and via a web front end that allows searches with any combination of organism names, sequences and mutation IDs. Availability: http://www.rostlab.org/services/snpdbe Contact: schaefer@rostlab.org; snpdbe@rostlab.org
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spelling pubmed-32787612012-02-15 SNPdbe: constructing an nsSNP functional impacts database Schaefer, Christian Meier, Alice Rost, Burkhard Bromberg, Yana Bioinformatics Applications Note Summary: Many existing databases annotate experimentally characterized single nucleotide polymorphisms (SNPs). Each non-synonymous SNP (nsSNP) changes one amino acid in the gene product (single amino acid substitution;SAAS). This change can either affect protein function or be neutral in that respect. Most polymorphisms lack experimental annotation of their functional impact. Here, we introduce SNPdbe—SNP database of effects, with predictions of computationally annotated functional impacts of SNPs. Database entries represent nsSNPs in dbSNP and 1000 Genomes collection, as well as variants from UniProt and PMD. SAASs come from >2600 organisms; ‘human’ being the most prevalent. The impact of each SAAS on protein function is predicted using the SNAP and SIFT algorithms and augmented with experimentally derived function/structure information and disease associations from PMD, OMIM and UniProt. SNPdbe is consistently updated and easily augmented with new sources of information. The database is available as an MySQL dump and via a web front end that allows searches with any combination of organism names, sequences and mutation IDs. Availability: http://www.rostlab.org/services/snpdbe Contact: schaefer@rostlab.org; snpdbe@rostlab.org Oxford University Press 2012-02-15 2011-12-30 /pmc/articles/PMC3278761/ /pubmed/22210871 http://dx.doi.org/10.1093/bioinformatics/btr705 Text en © The Author(s) 2012. Published by Oxford University Press. http://creativecommons.org/licenses/by-nc/3.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Applications Note
Schaefer, Christian
Meier, Alice
Rost, Burkhard
Bromberg, Yana
SNPdbe: constructing an nsSNP functional impacts database
title SNPdbe: constructing an nsSNP functional impacts database
title_full SNPdbe: constructing an nsSNP functional impacts database
title_fullStr SNPdbe: constructing an nsSNP functional impacts database
title_full_unstemmed SNPdbe: constructing an nsSNP functional impacts database
title_short SNPdbe: constructing an nsSNP functional impacts database
title_sort snpdbe: constructing an nssnp functional impacts database
topic Applications Note
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3278761/
https://www.ncbi.nlm.nih.gov/pubmed/22210871
http://dx.doi.org/10.1093/bioinformatics/btr705
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