Statements (46)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:database
|
| gptkbp:availableOn |
https://sites.google.com/site/jpopgen/dbNSFP
|
| gptkbp:citation |
Liu X, et al. dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs. Nucleic Acids Res. 2023;51(D1):D957-D969.
|
| gptkbp:citesPublication |
Liu X, et al. Nucleic Acids Res. 2023;51(D1):D957-D969.
|
| gptkbp:focusesOn |
human nonsynonymous single nucleotide variants
splice site variants |
| gptkbp:format |
tab-delimited text
|
| gptkbp:fullName |
Database for Nonsynonymous SNPs' Functional Predictions version 4.4
|
| gptkbp:hasType |
conservation scores
gene annotation allele frequency data functional prediction scores disease association annotation |
| https://www.w3.org/2000/01/rdf-schema#label |
dbNSFP v4.4
|
| gptkbp:includesAlleleFrequencySource |
gptkb:ExAC
gptkb:gnomAD 1000 Genomes ESP6500 |
| gptkbp:includesConservationScore |
GERP++
phastCons phyloP |
| gptkbp:includesDiseaseAnnotationSource |
gptkb:ClinVar
gptkb:OMIM |
| gptkbp:includesGeneAnnotationSource |
gptkb:RefSeq
gptkb:Ensembl |
| gptkbp:latestReleaseVersion |
4.4
|
| gptkbp:license |
free for academic use
|
| gptkbp:mainLanguage |
English
|
| gptkbp:maintainedBy |
Xiaoming Liu Lab
|
| gptkbp:predicts |
gptkb:SIFT
gptkb:CADD gptkb:MutationTaster gptkb:PolyPhen-2 gptkb:REVEL M-CAP MetaLR MetaSVM |
| gptkbp:previousEdition |
4.3
|
| gptkbp:referenceGenome |
gptkb:GRCh37
gptkb:GRCh38 |
| gptkbp:releaseDate |
2023
|
| gptkbp:usedFor |
clinical variant interpretation
variant annotation genomic research |
| gptkbp:bfsParent |
gptkb:Database_for_Nonsynonymous_SNPs'_Functional_Predictions
|
| gptkbp:bfsLayer |
7
|