The Human Gene Module of AutDB: A Gene Reference Resource for Autism Research

Background: A strong genetic component underlying ASD has been firmly established from various lines of studies.  Genomic advances have led to the identification of hundreds of ASD candidate genes. Recently, submicroscopic copy number variations (CNVs) were also strongly associated with ASD. Furthermore, ASD is consistently associated with a number of specific genetic disorders caused by a single gene mutation, such as Fragile X Syndrome. The high genetic heterogeneity of ASD poses an enormous challenge for understanding its etiology. For this reason, we have developed an autism gene database, AutDB, for ongoing curation of genes linked to the disorder. AutDB is a disease-specific database model which curates information for all known ASD-linked genes ranging from monogenic to risk-conferring candidates. Candidate genes are richly annotated for their relevance to autism and range of molecular functions. In this manner, AutDB serves as an up-to-date, annotated resource of ASD candidate genes which provides a bioinformatics framework for understanding the pathogenesis of ASD.  

Objectives: The human gene module of the autism genetic database AutDB has been designed to function as an online resource for the ASD research community and consists of detailed annotations of published scientific reports in which one or more genes have been identified in patients with ASD.  We describe the design and integration of the database as well as describe generation of enriched reference profile.  

Methods: We generated a functional and expression profile using bioinformatics tools such as DAVID and Bioconductor using data from the human gene module of AutDB which was then used to screen the genome to generate potential ASD candidate genes.  

Results: While a number of previously strongly associated genes were identified from the screen, we also identified a number of novel putative ASD risk genes which should be prioritized for future research.  

Conclusions: We anticipate that the human gene module of AutDB will be a valuable resource for autism research as it allows for large scale systematic analysis to help solve some of the complexities of a heterogeneous disorder like ASD.