Table 1: List of resources that can be used to prioritize candidate genes.
MGI is often considered the one stop shop when investigating a new gene. By using resources like the GO Consortium and AmiGO2 to understand the specifics on gene ontology the investigator can use tools like DAVID and GSEA to their advantage to uncover interesting processes and pathways present in the candidate gene list. These enrichment tools are underpinned by data from knowledgebases such as Entrez Gene, ENSEMBL, UniProt and TRANSFAC. The EMBL-EBI Expression Atlas provides a rich resource of reanalyzed transcriptomic data in mouse and human. The relevance of candidate genes in human disease can then be investigated using too such as OMIM and HGMD. URLs are current as on September 2016.
| Resource | Functional Description | URL |
|---|---|---|
| MGI (Mouse Genome Informatics) |
MGI is the international database resource for the laboratory mouse, providing integrated genetic, genomic, and biological data to facilitate the study of human health and disease. |
http://www.informatics.jax.org |
| Gene Ontology (GO) Consortium |
The GO Consortium develops up-to-date, comprehensive, computational models of biological systems, from the molecular level to larger pathways, cellular and organism-level systems. |
Homepage: http://geneontology.org/ Descriptors: http://geneontology.org/page/ontology-documentation http://geneontology.org/page/development |
| AmiGO2 | Searchable interface of GO Consortium | http://amigo.geneontology.org/amigo/landing |
| DAVID (Database for Annotation, Visualization and Integrated Discovery) |
DAVID is a comprehensive set of functional annotation tools for investigators to understand biological meaning behind arge list of genes. |
https://david.ncifcrf.gov/ |
| GSEA (Gene Set Enrichment Analysis) |
GSEA is a computational tool that determines whether an set of genes shows statistically significant, concordant differences between two biological states. |
http://software.broadinstitute.org/gsea/index.jsp |
| Entrez Gene |
Gene provides a record including nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations,phenotypes, and links to genome-, phenotype-, and locus-specific resources. |
https://www.ncbi.nlm.nih.gov/gene/ |
| ENSEMBL | Ensembl is a genome browser for vertebrate genomes that supports research in comparative genomics, evolution, sequence variation and transcriptional regulation. |
http://useast.ensembl.org/index.html |
| UniProt | UniProt is a comprehensive, high-quality and freely accessible resource of protein sequence and functional information |
http://www.uniprot.org/ |
| TRANSFAC | TRANSFARC houses data on eukaryotic transcription factors, their experimentally-proven binding sites, consensus binding sequences (positional weight matrices) and regulated genes. |
http://www.gene-regulation.com/pub/databases.html (last updated 2005) |
| EMBL-EBI Gene Expression Atlas (GEA) |
Gene expression data displayed in this resource is re-analyzed in-house to detect genes showing interesting baseline and differential expression patterns in different cell types and organs, in addition to different developmental stages, disease states and biological/experimental conditions |
https://www.ebi.ac.uk/gxa/home |
| Online Mendelian Inheritance in Man (OMIM) |
OMIM is a comprehensive online collection of records on human disease genes and genetic phenotypes. |
https://omim.org/ |
| UK10K Project | UK10K is an example of one of the many smaller efforts to understand the link between low-frequency and rare genetic changes, and human disease |
http://www.uk10k.org |
| Human Gene Mutation Database (HGMD, from Cardiff University) |
HGMD is a collection of germline mutations in nuclear genes that underlie, or are associated with, human inherited disease. -HGMD Cardiff: unlicensed and limited access (no access to mutations identified in the last 2.5 years) -HGMD Professional: licensed through Qiagen and complete access to entire collection |
http://www.hgmd.cf.ac.uk/ac/index.php |
| Human Gene Mutation Database (HGMD) Professional |
https://www.qiagenbioinformatics.com/products/human-gene-mutation-database/ | |
| IKMC (International Knockout Mouse Consortium) IMPC (International Mouse Phenotyping Consortium) IMSR (International Mouse Strain Resource) |
-IKMC generates targeted ES-cells of all known protein coding mouse genes and companion Cre driver lines - IMPC generates the mouse strains and perform standardized phenotyping. - All gene trap alleles are housed at Jax (Jackson Laboratories) - ISMR is a searchable catalogue of over 2000 strains |
IKMC: access through IKMC/IMPC hub IMPC: www.knockoutmouse.org IKMC/IMPC web portals were merged to create a central hub: http://www.mousephenotype.org Jax: https://www.jax.org IMSR: www.findmice.org; |
| DMDD (Deciphering the Mechanisms of Developmental Disorders) |
Results from the Consortium to study knock-out lines where embryonic development is compromised. |
https://dmdd.org.uk |
| HGNC (HUGO Gene Nomenclature Committee) Multi-Symbol Checker |
This tool to check submitted gene names in a list against HUGO verified names and their known synonyms, |
http://www.genenames.org/cgi-bin/symbol_checker |