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. Author manuscript; available in PMC: 2018 Oct 4.
Published in final edited form as: Sex Dev. 2017 Feb 15;11(1):1–20. doi: 10.1159/000455113

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