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Functional and Genomic Databases

These tools or resources are widely used to determine functional regions or elements in the human genome.


Provide pre-computed REVEL scores for all possible human missense variants to facilitate the identification of pathogenic variants in the sea of rare variants.


Combined Annotation Dependent Depletion (CADD)

A tool for scoring the deleteriousness of single nucleotide variants as well as insertion/deletions variants in the human genome


ENCODE Project

A comprehensive list of functional elements in the human genome, including elements that act at the protein and RNA levels, and regulatory elements that control cells and circumstances in which a gene is active



A tool to assign biological meaning to a set of non-coding genomic regions by analyzing the annotations of the nearby genes



An open-access database containing a curated, non-redundant set of profiles, derived from published collections of experimentally defined transcription factor binding sites for eukaryotes


Human Protein Complex Map (Hu.Map)

The hu.MAP integrates several large scale protein interaction datasets to obtain the most comprehensive view of protein complexes.global map of human protein complexes


Mendelian Clinically Applicable Pathogenicity (M-CAP) Score

A pathogenicity classifier for rare missense variants in the human genome that is tuned to the high sensitivity required in the clinic



A tool which predicts possible impact of an amino acid substitution on the structure and function of a human protein using straightforward physical and comparative considerations


Regulatory Elements Database

Patterns of regulatory activity across diverse human cell types using the data from hundreds of DNaseI-hypersensitivity and Affymetrix microarray experiments



A database that annotates SNPs with known and predicted regulatory elements in the intergenic regions of the human genome


Open Targets Platform

A data integration and visualization platform that provides evidence about the association of known and potential drug targets with diseases



A tool which predicts whether an amino acid substitution affects protein function, based on the degree of conservation of amino acid residues in sequence alignments derived from closely related sequences


STRING 9.1 Database

A database of known and predicted protein-protein interactions


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