Statements (54)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:database
|
| gptkbp:citation |
Liu X, Jian X, Boerwinkle E. dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions. Hum Mutat. 2011.
Liu X, Wu C, Li C, Boerwinkle E. dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs. Hum Mutat. 2016. |
| gptkbp:contains |
gptkb:CADD_scores
gptkb:GERP++_scores gptkb:MetaSVM_scores gptkb:MutationTaster_scores gptkb:PolyPhen-2_scores gptkb:phastCons_scores gptkb:phyloP_scores conservation scores disease association data gene annotation Ensembl gene IDs HGNC gene symbols MetaLR scores OMIM disease associations REVEL scores RefSeq IDs SIFT scores allele frequencies from multiple populations allele frequency data chromosome position clinical significance annotations functional prediction scores gene essentiality scores protein domain information reference and alternate alleles rsID transcript information |
| gptkbp:dataSource |
gptkb:ClinVar
gptkb:ExAC gptkb:UniProt gptkb:dbSNP gptkb:HGMD gptkb:1000_Genomes_Project gptkb:Ensembl gptkb:gnomAD |
| gptkbp:downloadFormat |
tab-delimited text
|
| gptkbp:firstReleased |
2011
|
| gptkbp:focus |
nonsynonymous single nucleotide variants
splice-site single nucleotide variants |
| gptkbp:fullName |
gptkb:Database_for_Nonsynonymous_SNPs'_Functional_Predictions
|
| https://www.w3.org/2000/01/rdf-schema#label |
dbNSFP
|
| gptkbp:latestReleaseVersion |
2023
v4.3 |
| gptkbp:maintainedBy |
gptkb:Human_Genome_Sequencing_Center,_Baylor_College_of_Medicine
|
| gptkbp:species |
gptkb:Homo_sapiens
|
| gptkbp:usedBy |
geneticists
bioinformaticians |
| gptkbp:usedFor |
genomic variant interpretation
|
| gptkbp:website |
https://sites.google.com/site/jpopgen/dbNSFP
|
| gptkbp:bfsParent |
gptkb:UCSC_Genome_Browser
|
| gptkbp:bfsLayer |
5
|