Statements (51)
| 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 |
conservation scores
allele frequency data functional prediction scores protein domain information clinical annotation contains data from 1000 Genomes Project contains data from ClinVar contains data from ExAC contains data from OMIM contains data from dbSNP contains data from gnomAD disease association information gene and transcript information population frequency data prediction scores from CADD prediction scores from DANN prediction scores from Eigen prediction scores from FATHMM prediction scores from LRT prediction scores from M-CAP prediction scores from MPC prediction scores from MetaLR prediction scores from MetaSVM prediction scores from MutationAssessor prediction scores from MutationTaster prediction scores from PROVEAN prediction scores from PolyPhen-2 prediction scores from PrimateAI prediction scores from REVEL prediction scores from SIFT |
| gptkbp:firstReleased |
2011
|
| gptkbp:focus |
functional prediction and annotation of human nonsynonymous and splice-site single nucleotide variants (SNVs)
|
| gptkbp:fullName |
database for nonsynonymous SNPs' functional predictions
|
| https://www.w3.org/2000/01/rdf-schema#label |
dbNSFP database
|
| gptkbp:latestReleaseVersion |
v4.3
|
| gptkbp:maintainedBy |
Xiaoming Liu
Human Genetics Center, University of Texas Health Science Center at Houston |
| gptkbp:usedBy |
gptkb:VEP
SnpEff ANNOVAR other variant annotation tools |
| gptkbp:usedIn |
clinical genomics
bioinformatics research variant effect prediction genomic variant annotation |
| gptkbp:website |
https://sites.google.com/site/jpopgen/dbNSFP
|
| gptkbp:bfsParent |
gptkb:MetaSVM_scores
|
| gptkbp:bfsLayer |
7
|