About SFARI Gene

SFARI Gene is an evolving database for the autism research community that is centered on genes implicated in autism susceptibility.

The SFARI Gene web portal seamlessly integrates different kinds of genetic data that are being generated by research studies, and in so doing encourages the generation of new hypotheses.

SFARI Gene utilizes a systems biology approach, linking information on autism candidate genes within its original “Human Gene” module to corresponding data from a diverse array of supplementary data modules. ASD risk genes are then scored using a set of annotation rules developed in consultation with an external advisory board and classified into specific categories based on the evidence supporting their link to autism.

Data Modules

The SFARI Gene database curates information into several distinct data modules to provide researchers with the most comprehensive, up-to-date research on the genetic causes of autism.

Human Gene

The Human Gene module of SFARI Gene is a thoroughly annotated list of genes that have been studied in the context of autism. It contains information about the genes themselves, relevant references from scholarly articles, and a description of the evidence linking the genes to ASD.

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Copy Number Variant (CNV)

The Copy Number Variant (CNV) module of SFARI Gene is a parallel resource that catalogues the single-gene and multi-gene deletions and duplications in the genome and describes their potential link to autism.

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Animal Models

SFARI Gene's Animal Models Module contains information about lines of genetically modified mice and rats that represent potential models of autism. This information includes the nature of the targeting construct, the background strain and, most importantly, a thorough summary of the phenotypic features that are most relevant to autism.

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Protein Interaction (PIN)

The Protein Interactions (PIN) module is a compilation of all known interactions gene products implicated in autism, including both protein-protein and protein-nucleic acid interactions. It presents both graphical and tabular views of interactomes, highlighting connections between autism candidate genes. Each protein interaction is manually verified by consultation with the primary reference.

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Methodology

The content of SFARI Gene originates entirely from published, peer-reviewed scientific literature. Our expert researchers systematically search, identify, and extract information on genetic studies of ASD in humans and experimental organisms. This collection of manually curated data serves as a convenient point of entry into the vast and growing body of work on the genetic basis of ASD.

Scoring

SFARI Gene uses an innovative assessment system to assign every gene in the database with a score reflecting the strength of the evidence linking the gene to ASD. These scores are regularly updated based on the publication of new scientific data and feedback from the research community.

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Data Visualization

The latest version of SFARI Gene includes a series of unique data visualization tools to better illustrate the genetic data contained in the database. These visualizations will help researchers see the frequency with which particular mutations have been linked to autism, as well as the full range of protein-protein interactions that occur between autism-associated gene products, all in the scope of the entire genome. These tools will provide researchers with a useful way to assess the progress of the field.

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