Scientists have now created an encyclopedia of gene function for all known human genes that code for protein. This data uses the most current and reliable data, and it has also been released on a website. It has integrated data from functional studies on genes using animal models, and human gene data. This effort was made possible by The Gene Ontology, which is a resource that has been developed over the past 25 years, and is crucial to many research studies. The work has also been reported in Nature.
"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 D. Thomas, Ph.D., a principal investigator of The Gene Ontology Consortium and director of the division of bioinformatics at the Keck School of Medicine. "We'd previously amassed a huge knowledge base that has become an authoritative reference on human gene functions, 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."
Since animal study data was included, such as from common research models like zebrafish and mice, this research can provide potential functions for many human genes that have not yet been assessed in human cell lines or tissues. So if a gene is identified in a research study but the investigators are not familiar with what it does, they can turn to this resource for some clues about its function. This may help researchers find new connections between human genes and diseases.
This catalogue of gene functions is known as the "PAN-GO functionome," and it can be used to analyze omics data long with other tools. Thomas suggested it will be more accurate than other techniques because it has collected data including the evolutionary history of thousands of genes and proteins to make a more refined prediction about gene function.
So while studies on every single human gene may have not yet been performed, many of them have been analyzed in models like yeast, fruit flies or mice. "This helps us infer the functional characteristics of human genes, even when there is no direct evidence from an experiment on the human gene itself," Thomas said.
The researchers are also asking for suggestions from the community about updates to the project. Crowdsourcing can be an excellent way to safeguard and update the information.
The PAN-GO functionome is not quite finished but it does now include data on 82% of genes that code for protein. There is no experimental data or the other 18%, or about 3,600 genes that have unknown functions.
"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," Thomas suggested.
Sources: Keck School of Medicine, Nature