Atlas of the functions of 20,000 human genes published

The functions of over 20,000 human genes are described in a new scientific database.

The Gene Ontology Resource has been developed by scientists, over the past 25 years, as a valuable resource for biomedical research, providing information on the functions of human genes. Now, the international team of scientists behind the Gene Ontology Resource has published a new database that details the function of over 20,000 human protein-coding genes by combining data on human genes with genetic data from other animals. This resource, known as the 'PAN-GO functionome', is publicly available for scientists to use.

'Our knowledge base allows scientists to go from just a list of genes to an understanding of their biological functions, including what might be useful for treatment,' said Professor Paul Thomas, a principal investigator of the Gene Ontology Consortium and lead author of the paper published in Nature describing the database.

Not every gene has been studied in human cells, but many have been analysed in other organisms, such as mice, flies and zebrafish, which helps scientists to infer the functions of these genes through evolutionary modelling. The authors suggest that this resource will be more accurate than other techniques are at predicting gene function as research in other animals sheds light on the evolutionary history of human genes.

'We'd previously amassed a huge knowledge base that has become an authoritative reference on human gene functions,' Professor Thomas explained. 'And now, by adding information about when each function arose in evolution, we're now providing an even more complete, accurate, and concise description of the functions encoded by human genes.'

Previously, cell atlases have been published detailing the cell types in different human tissues and organs as part of the Human Cell Atlas consortium aiming to map all cell types in the human body (see BioNews 1276, 1267, 1261, 1254 and 1234). This new resource provides scientists with a different kind of atlas: a human genome atlas that comprehensively classifies genes into functional categories, indicating how the proteins encoded by genes work within a cell.

Currently, this database includes the function of 82 percent of all protein-coding genes in the human genome, as the functions of the remaining 18 percent have not yet been studied. The authors acknowledge this gap, with the hopes that scientists can add to the database to ensure the information continues to grow over time, as the functions of more genes are discovered.

'We now have a real picture of where we are missing information, and that's where future research in this area may want to focus,' Professor Thomas suggested.

Biological atlases, including this new database, are key to understanding the mechanisms of human disease. A better understanding of the functions of human genes can reveal new connections between genetics and disease, unveiling more potential targets for treatment.