Unveiling the ‘Functionome’: Online Resource Describes Functions of More Than 20,000 Human Genes

Unveiling the ‘Functionome’: Online Resource Describes Functions of More Than 20,000 Human Genes


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A new Resource from the Gene Ontology Consortium, A Comprehensive Encyclopedia of the Known Functions of all protein-coding human genes, Has been completeted and released on a new wet. For the first time, Researchers from the Keck School of Medicine of USC, The Swiss Institute of Bioinformatics and other Institutions used Large-SCALE Evolutionary Modeling to Integrate Data Data on Human Gaines Gnetic data collected from other organisms.

This has culminated in a Searchable Public Resource That lists the knowledge functions of more than 20,000 genes using the most accurate and complete evidence available. A paper describing the resource was Published in Nature,

The Gene Ontology, A Knowledge Base That Has Been Continually expanded and improved for more than 25 years, have become a Mainstay of the Biomedical Research Process. Alredy, it is used in more than 30,000 publications Each Year to Aid with Data Analysis and Interpretation.

Biomedical Researchers who Conduct “OMICS” Experiments-Large-Scale Studies of DNA, RNA, Proteins and Other Biological Molecules-Generate Data that can Identdereds of GENES OF GENEFY HONDEREDS of. For example, a researcher might learn which genes are turned “on” or “off” in cancerous cells compared to healthy ons.

Reviewing Thousands of Published Papers on the Known Functions of Each Gene is not feasible, so many scientists turn instalad to the gene ontology.

“Our Knowledge Base Allows Scientists to go from just a list of genes to an understanding of their biological functions, Including what might before for treatment,” Said paul d. Principal Investigator of the Gene Ontology Consortium and Director of the Division of Biinformatics and a Professor of Population and Public Health Sciences at the KACK SCHOOL OF MEDICINE.

Now, this latest millstone provides a new resource with the knowledge base that uses evolutionary modeling to make the tool even more powerful.

The approach allows the resultarars to combine experience collected from human genes with that obtained from related genes in model organisms, such as mice and zebrafish. It provides a more complete picture of human gene function, including filling in Gaps in Scientific Knowledge Where Direct Evidence from human studies is not available.

“We’D Previous AMASSED A Huge Knowledge Base That Has Become an Authoritative Reference on Human Gene Functions,” Said Thomas, Who is also lead author of the new publication.

“And now, by adding information about when there is function arose in evolution, we’re now providing an even more complete, accurate, and concise description of the functions eense educated genes.”

An evolutionary view

The new resource was compiled by a team of more than 150 biologists Around the World, Including at the Keck School of Medicine of USC.

Since 1998, the group has meticulously reviewed over 175,000 Scientific publications on gene function, search for data on gene functions in well-stodided organisms and always gene in the human-produceri-ear in the human More than 20,000 protein-coding genes that control key biological processes.

After reviewing the literature, they categorized each according to the biological functions it performs, either on its or in combination with other genes. They selected from a catalog they developed of more than 40,000 functions that Span Cell Division, Cell Signaling, Immune Response, Molecular Transport and Many more.

Understanding the Precise Functions Performed by Groups of Genes Can Help Researchers Understand What Goes Wrong in Cancer and Other Diseases and Design Targeted Approaches to Treatment.

The new Resource of Gene Function Descriptions, Called The “Pan-Go Functionome.

That’s trust the recent work has brought together all the information in the knowledge base using large-scale evolutionary models Proteins), Creating a more complete and accurate picture of gene function.

In many cases, Experimental data from human genes is not available, but scientists have studied related genes in mice, rats, zebrafish, fruit blies, yeast or e. Coli. By undertanding when and how specific functions (such as energy processing or cell signaling) Evolved, Researchers Can Use Data Obtaned from Other Organisms to Caines to CAIN AnA UNDERTANTANDEN ANDERSTANDING OF COM Humans.

“This Helps Us Infer The Functional Characteristics of Human Ganes, even when there is no directed evidence from an expert on the human gene it,” Thomas said.

Going forward, the gene ontology consortium is requesting that researchers use the pan-gHe functionome in their analyses. The information is structured in a machine-red format that allows scientists to use computational tools, such as artificial intelligence, to quickly search and use the data.

The consortium is also issuing a call to action: Researchers can now submit suggestions for updating the knowledge base on specific genes through the project’s website. Crowd-Sourcing Knowledge of Gene Functions and Categorizing them in a Structured Way Ensures that the Shared Resource Continues to Improve Over Time and That Its Insights are Easy to Apply.

Thought it is the most Comprehensive Resource available on Gene Functions, The Pan-Go Functionome is not yet complete. It contains data on 82% of Protein-Coding Zanes, but no experienceal data exists for the other 18%-rooughly 3,600 genes, the biological functions of which remain remain unknownnown.

“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 said.

More information:
Paul thomas, a compendium of human gene functions derived from evolutionary modeling, Nature (2025). Doi: 10.1038/s41586-025-08592-0, www.nature.com/articles/S41586-025-08592-0

Provided by Keck School of Medicine of USC


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