GeneAnalytics Pathways and Profiling of Shared Autism and Cancer Genes
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...
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doaj-4f4cb2ec688144a4a4880ebcc042cdd42020-11-24T21:29:05ZengMDPI AGInternational Journal of Molecular Sciences1422-00672019-03-01205116610.3390/ijms20051166ijms20051166GeneAnalytics Pathways and Profiling of Shared Autism and Cancer GenesAlexander P. Gabrielli0Ann M. Manzardo1Merlin G. Butler2Departments of Psychiatry, Behavioral Sciences & Pediatrics, University of Kansas Medical Center, Kansas City, KA 66160, USADepartments of Psychiatry, Behavioral Sciences & Pediatrics, University of Kansas Medical Center, Kansas City, KA 66160, USADepartments of Psychiatry, Behavioral Sciences & Pediatrics, University of Kansas Medical Center, Kansas City, KA 66160, USARecent 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 red 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.http://www.mdpi.com/1422-0067/20/5/1166autism spectrum disorders (ASD)canceroverlapping genes and gene profilingsuper-pathwaysphenotypes and diseasesmolecular functions and processes |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Alexander P. Gabrielli Ann M. Manzardo Merlin G. Butler |
spellingShingle |
Alexander P. Gabrielli Ann M. Manzardo Merlin G. Butler GeneAnalytics Pathways and Profiling of Shared Autism and Cancer Genes International Journal of Molecular Sciences autism spectrum disorders (ASD) cancer overlapping genes and gene profiling super-pathways phenotypes and diseases molecular functions and processes |
author_facet |
Alexander P. Gabrielli Ann M. Manzardo Merlin G. Butler |
author_sort |
Alexander P. Gabrielli |
title |
GeneAnalytics Pathways and Profiling of Shared Autism and Cancer Genes |
title_short |
GeneAnalytics Pathways and Profiling of Shared Autism and Cancer Genes |
title_full |
GeneAnalytics Pathways and Profiling of Shared Autism and Cancer Genes |
title_fullStr |
GeneAnalytics Pathways and Profiling of Shared Autism and Cancer Genes |
title_full_unstemmed |
GeneAnalytics Pathways and Profiling of Shared Autism and Cancer Genes |
title_sort |
geneanalytics pathways and profiling of shared autism and cancer genes |
publisher |
MDPI AG |
series |
International Journal of Molecular Sciences |
issn |
1422-0067 |
publishDate |
2019-03-01 |
description |
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 red 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. |
topic |
autism spectrum disorders (ASD) cancer overlapping genes and gene profiling super-pathways phenotypes and diseases molecular functions and processes |
url |
http://www.mdpi.com/1422-0067/20/5/1166 |
work_keys_str_mv |
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