Table 2.
Differentially expressed genes that are known to be highly expressed in the brain, eye, and/or heart and had a log fold-change (logFC) of ≥ 2.0 or ≤ −2.0 and false discovery rate (FDR) of ≤0.05.
| Gene | Gene name | logFC | FDR | Gene function | NMD features |
|---|---|---|---|---|---|
| SMOX | Spermine oxidase | 2.1 | 6.1E−10 | SMOX is a regulator of polyamine metabolism and may be involved in neurodegenerative diseases. | uORF |
| OSBP2 | Oxysterol-binding protein 2 | 2.2 | 3.3E−8 | OSBP2 is involved in lipid transport. It binds to oxysterols and may inhibit their cytotoxicity. It is essential for cell proliferation and survival. | uORF |
| GPX3 | Glutathione peroxidase 3 | 2.4 | 2.7E−5 | GPX3 protects cells and enzymes from oxidative damage. | uORF |
| RAP1GAP | RAP1 GTPase activating protein | 4.0 | 0.0098 | RAP1GAP is the most prominent GTPase-activating protein in brain. It is involved in neuronal differentiation. | uORF |
| HEY1 | Hes-related family bHLH transcription factor with YRPW motif 1 | 2.0 | 0.012 | HEY1 is a transcriptional repressor in the Notch signaling pathway which plays an important role in gliogenesis, cardiac morphogenesis and angiogenesis. | uORF |
| G0S2 | G0/G1 switch 2 | 2.6 | 0.012 | G0S2 promotes apoptosis. | uORF |
| GCAT | Glycine C-acetyltransferase | 2.0 | 0.015 | GCAT is the second mitochondrial enzyme in a 2-step reaction that converts L-threonine to glycine. | uORF |
| MAP1B | Microtubule-associated protein 1B | 2.9 | 0.020 | Dominant germline mutations cause periventricular nodular heterotopia (MIM 618918). MAP1B is involved in microtubule assembly, which is an essential step in neurogenesis. | uORF, long 3′UTR, AS |
| SYNM | Synemin | 2.0 | 0.033 | SYNM plays an important cytoskeletal role within the muscle cell cytoskeleton. SYNM is a candidate gene for dilated cardiomyopathy. | uORF, long 3′UTR |
| ZNF155 | Zinc finger protein 155 | −2.3 | 6.1E−10 | ZNF155 may be involved in transcriptional regulation. | uORF |
| OLFM1 | Olfactomedin 1 | −2.4 | 0.012 | OLFM1 contributes to the regulation of axonal growth in the embryonic and adult central nervous system. | uORF |
| RAVER2 | Ribonucleoprotein, PTB-binding 2 | −2.3 | 0.020 | RAVER2 may bind single-stranded nucleic acids. | uORF, long 3′UTR, AS |
| NTSR1 | Neurotensin receptor 1 | −2.0 | 0.023 | NTSR1 mediates the multiple functions of neurotensin in the brain. | uORF long 3′UTR |
| TUBB2A | Tubulin beta 2A class IIa | −2.9 | 0.050 | TUBB2A is the major constituent of microtubules. Dominant germline mutations cause cortical dysplasia (MIM 615763). |
Abbreviations: uORF predicted translated upstream open-reading frame, UTR long 3′untranslated region (>1.5 kb), 3′UTR intron, AS alternative splicing.