Table 1.
Examples of Novel Splice Variants Expressed in HCC and Associated Cellular Pathways
| Gene | Protein | Splice variant isoform | Major associated pathway | Literature source |
|---|---|---|---|---|
| BIN1 | Myc box-dependent-interacting protein-1 | Long variant BIN1L | Regulation of membrane signaling and Myc | Malakar et al, Cancer Res 2017 |
| CCDC50 | Coiled-coil domain-containing protein 50 | Short variant CCDC50S | Ubiquitin-proteasome, cytoskeleton | Wang et al, Hepatology 2019 |
| INSR | Insulin receptor | Short variant IR-A | Insulin signaling | Chettouh et al, Cancer Res 2013 |
| KHK | Ketohexokinase | Variant KHK-A | Fructose metabolism | Li et al, Nat Cell Biol 2016 |
| NF2 | Merlin | Short variant Δ2-4Merlin | Hippo signaling/cell growth and proliferation | Luo et al, Nat Commun 2015 |
| NT5E | Ecto-5'-nucleotidase (CD73) | Short variant CD73S | Extracellular adenosine production | Snider et al, Mol Biol Cell 2014 |
| NUMB | Protein numb homolog | Long variant PRR (L) | Tissue morphogenesis | Lu et al, Hepatology 2015 |
| RCAN1 | Calcipressin-1 | Variant isoform 4 | Regulation of transcription | Jin et al, Gastroenterology 2017 |
| TLL1 | Tolloid-like protein 1 | TLL1 short variant | Extracellular matrix and cell differentiation | Matsuura et al, Gastroenterology 2017 |