The Exome Aggregation Consortium (ExAC) is a coalition of investigators seeking to aggregate and harmonize exome sequencing data from a variety of large-scale sequencing projects, and to make summary data available for the wider scientific community. The data pertains to unrelated individuals sequenced as part of various disease-specific and population genetic studies and serves as a reference set of allele frequencies for severe disease studies. This collection references gene information.

Prefix
exac.gene
Links
Homepage
Contact
Missing Contact
Pattern
^ENSG\d{11}$
Namespace in Pattern
False
Example Identifier
ENSG00000169174   Resolve
Metaregistry

The metaregistry provides mappings between the Bioregistry and other registries. There are 3 mappings to external registries for exac.gene.

Registry Name Metaprefix Metaidentifier
Identifiers.org miriam exac.gene
Name-to-Thing n2t exac.gene
Prefix Commons prefixcommons EXAC.GENE
Providers

Providers are various services that resolve CURIEs to URLs. The example CURIE exac.gene:ENSG00000169174 is used to demonstrate the provides available for exac.gene. Generation of OLS and BioPortal URLs requires additional programmatic logic beyond string formatting.

Name Metaprefix URL
ExAC Gene exac.gene http://exac.broadinstitute.org/gene/ENSG00000169174
Bioregistry bioregistry https://bioregistry.io/exac.gene:ENSG00000169174
Identifiers.org miriam https://identifiers.org/exac.gene:ENSG00000169174
Name-to-Thing n2t https://n2t.net/exac.gene:ENSG00000169174