URL: https://sites.google.com/site/jpopgen/dbNSFP
Proper Citation: dbNSFP (RRID:SCR_005178)
Description: A database for functional prediction and annotation of all potential non-synonymous single-nucleotide variants (nsSNVs) in the human genome. Version 2.0 is based on the Gencode release 9 / Ensembl version 64 and includes a total of 87,347,043 nsSNVs and 2,270,742 essential splice site SNVs. It compiles prediction scores from six prediction algorithms (SIFT, Polyphen2, LRT, MutationTaster, MutationAssessor and FATHMM), three conservation scores (PhyloP, GERP++ and SiPhy) and other related information including allele frequencies observed in the 1000 Genomes Project phase 1 data and the NHLBI Exome Sequencing Project, various gene IDs from different databases, functional descriptions of genes, gene expression and gene interaction information, etc. Some dbNSFP contents (may not be up-to-date though) can also be accessed through variant tools, ANNOVAR, KGGSeq, UCSC Genome Browser''s Variant Annotation Integrator, Ensembl Variant Effect Predictor and HGMD.
Abbreviations: dbNSFP
Resource Type: database, data or information resource
Defining Citation: PMID:23843252, PMID:21520341
Keywords: non-synonymous single-nucleotide variant, function, annotation, functional prediction, non-synonymous mutation, splice site mutation, FASEB list
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University of Texas Health Science Center at Houston; Texas; USA |
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