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Updated: Nov 3, 2025

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data
Published on: June 24, 2021
Alternative splicing and gene co-expression network-based analysis of dizygotic twins with autism-spectrum disorder
Kaan Okay1, Pelin Ünal Varış2, Süha Miral3
1Izmir International Biomedicine and Genome Institute, Dokuz Eylül University, Balçova, Izmir, Turkey; Izmir Biomedicine and Genome Center, Dokuz Eylül University Health Campus, Balçova, Izmir, Turkey.
Abstract:
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with high heritability, however, understanding the complexity of the underlying genetic basis has proven to be a challenging task. We hypothesized that dissecting the aberrations in alternative splicing (AS) and their effects on expression networks might provide insight. Therefore, we performed AS and co-expression analyses of total RNA isolated from Peripheral Blood Mononuclear Cells (PBMCs) of two pairs of dizygotic (DZ) twins with non-syndromic autism and their parents. We identified 183 differential AS events in 146 genes, seven of them being Simons Foundation Autism Research Initiative (SFARI) Category 1-3 genes, three of which had previously been reported to be alternatively spliced in ASD post-mortem brains. Gene co-expression analysis identified 7 modules with 513 genes, 5 of which were SFARI Category 1 or Category 2 genes. Among differentially AS genes within the modules, ZNF322 and NR4A1 could be potentially interesting targets for further investigations.
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