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GeneAnalytics Pathways and Profiling of Shared Autism and Cancer Genes
Gabrielli, Alexander P. ; Manzardo, Ann M. ; Butler, Merlin G.
Gabrielli, Alexander P.
Manzardo, Ann M.
Butler, Merlin G.
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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 amatching 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.
Description
A grant from the One-University Open Access Fund at the University of Kansas was used to defray the author's publication fees in this Open Access journal. The Open Access Fund, administered by librarians from the KU, KU Law, and KUMC libraries, is made possible by contributions from the offices of KU Provost, KU Vice Chancellor for Research & Graduate Studies, and KUMC Vice Chancellor for Research. For more information about the Open Access Fund, please see http://library.kumc.edu/authors-fund.xml.
Date
2019-03-07
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MDPI
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Keywords
Autism spectrum disorders (ASD), cancer, overlapping genes and gene profiling, super-pathways, phenotypes and diseases, molecular functions and processes
Citation
Gabrielli, A.P.; Manzardo, A.M.; Butler, M.G. GeneAnalytics Pathways and Profiling of Shared Autism and Cancer Genes. Int. J. Mol. Sci. 2019, 20, 1166.