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. 2019 Mar 7;20(5):1166.
doi: 10.3390/ijms20051166.

GeneAnalytics Pathways and Profiling of Shared Autism and Cancer Genes

Alexander P Gabrielli  1 , Ann M Manzardo  2 , Merlin G Butler  3
Affiliations

GeneAnalytics Pathways and Profiling of Shared Autism and Cancer Genes

Alexander P Gabrielli et al. Int J Mol Sci. .

Abstract

Recent research revealed that autism spectrum disorders (ASD) and cancer may share common genetic architecture, with evidence first reported with the PTEN gene. There are approximately 800 autism genes and 3500 genes associated with cancer. The VarElect phenotype program was chosen to identify genes jointly associated with both conditions based on genomic information stored in GeneCards. In total, 138 overlapping genes were then profiled with GeneAnalytics, an analysis pathway enrichment tool utilizing existing gene datasets to identify shared pathways, mechanisms, and phenotypes. Profiling the shared gene data identified seven significantly associated diseases of 2310 matched disease entities with factors implicated in shared pathology of ASD and cancer. These included 371 super-pathways of 455 matched entities reflecting major cell-signaling pathways and metabolic disturbances (e.g., CREB, AKT, GPCR); 153 gene ontology (GO) biological processes of 226 matched processes; 41 GO molecular functions of 78 matched functions; and 145 phenotypes of 232 matched phenotypes. The entries were scored and ranked using a matching algorithm that takes into consideration genomic expression, sequencing, and microarray datasets with cell or tissue specificity. Shared mechanisms may lead to the identification of a common pathology and a better understanding of causation with potential treatment options to lessen the severity of ASD-related symptoms in those affected.

Keywords: autism spectrum disorders (ASD); cancer; molecular functions and processes; overlapping genes and gene profiling; phenotypes and diseases; super-pathways.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
Diseases ranked by score and match rate (size of circle).
Figure 2
Figure 2
Phenotypes ranked by score and match rate (size of circle) for top ten phenotypes.
Figure 3
Figure 3
Gene Ontology (GO) biological processes ranked by score and match rate (size of circle) for top ten processes.
Figure 4
Figure 4
GO molecular function ranked by score and match rate (size of circle) for top ten functions.
Figure 5
Figure 5
Pathways ranked by score and match rate (size of circle) for top ten pathways.
See this image and copyright information in PMC

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