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 for Local Unique Identifiers

Local identifiers in ExAC Gene should match this regular expression:
^ENSG\d{11}$

Example Local Unique Identifier
ENSG00000169174   Resolve
Pattern for CURIES

Compact URIs (CURIEs) constructed from ExAC Gene should match this regular expression:
^exac.gene:ENSG\d{11}$

Example CURIE
exac.gene:ENSG00000169174
Metaregistry

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

Registry Name Metaprefix External Prefix
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 URI
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