Table 1 List of genes whose ψ value change by over 25% in hypoxia
Gene name | Gene function | Function of splice isoform | Change in splice isoform expression after hypoxia |
|---|---|---|---|
APAFl | Required for the formation of the apoptosome in apoptosis [32] | Exon 17a codes for a WDR domain required for the formation of the apoptosome [33] | Exon 17a skipping is favoured in hypoxia |
BTN2A2 | Involved in immune tolerance in cancer | Exon 5 skipping forms a truncated protein that negatively regulates the full length protein involved in immune tolerance [39] | Increased exon inclusion, which promotes immune tolerance |
CDC42BPA | Reorganisation of the cytoskeleton, formation of filopodia and assignment of cellular polarity. Implicated in cancer cell motility and invasion | Unknown function | Decrease in exon inclusion in hypoxia. |
FGFR10P | Ciliogenesis, cellular motility, cell growth and cell cycle progression | Unknown function | Exon skipping favoured in hypoxia |
MBP | Formation of the myelin sheath. Elevated in breast cancer and lung cancer patients with brain metastasis | Unknown function. | Exon skipping favoured in hypoxia. |
PTPN13 | Competing roles as a tumour suppressor and oncogene | Unknown function. | Decrease in exon inclusion in hypoxia |
PUF60 | Modulates alternative splicing through recognition of 3′ splice sites. Regulates c-myc transcription | Exon 5 skipping results in expression of an isoform known as FIR, a c-myc repressor [40, 41] | Expression of anti-oncogenic FIR isoform favoured in hypoxia. |
RAP1GDS1 | Activates multiple small GTPases in the Rho and Ras families | Exon 5 skipping produces SmgGDS-558 which plays a greater role in proliferation and NFkB activity than the full-length SmgGDS-607 splice variant [42]). | Hypoxia favours the smgGDS-558 isoform. |
SYNE2 | Influences the shape and migration properties of cells | Exon 107 encodes a domain required for scaffolding for protein-protein interactions [43]. | Exon skipping favoured in hypoxia |
TTC23 | Unknown function but expression linked to cervical, bladder and prostate cancers. | Unknown function | Exon inclusion favoured in hypoxia. |
UTRN | Maintenance of the cytoskeleton | Unknown function | Exon skipping increased in hypoxia. |