TABLE 1.
Fusion candidates assessed for presence in the GTEx normal tissue fusion database.
| Fusion | Previously validated | Biological relevance | Present in GTEx? | Source |
| ATM-SLC35F2 and SLC35F2-ATM | Yes – ddPCR and PCR of RNA, sequencing of DNA | Causative of severe combined immunodeficiency | No | Cousin et al., 2018 and Oliver et al., 2019b |
| SAMD12-EXT1 | Yes – ddPCR and PCR of RNA, aCGH and molecular inversion probe analysis of DNA | Causative of multiple exostoses | Yes | Oliver et al., 2019a, b |
| NARS2-TENM4 | Yes – ddPCR and PCR of RNA | Potentially pathogenic | Yes | Oliver et al., 2019b |
| C18orf32-DYM | Yes – ddPCR of RNA | Potentially pathogenic | No | Oliver et al., 2019b |
| ARL5A-NEB | Yes – ddPCR of RNA | Potentially pathogenic | Yes | Oliver et al., 2019b |
| SON-FCRL3 | Yes – ddPCR of RNA | Potentially pathogenic | No | Oliver et al., 2019b |
| PDPK1-PRSS21 | Yes – ddPCR and PCR of RNA, aCGH of DNA | Potentially pathogenic | No | Oliver et al., 2019a, b |
| SLC30A6-SPAST | No – negative ddPCR and PCR of RNA | Potentially pathogenic | Yes | Oliver et al., 2019b |
| TET3-DGUOK | No – negative ddPCR and PCR of RNA | Potentially pathogenic | Yes | Oliver et al., 2019b |
| CACNB4-STAM2 | No – negative ddPCR and PCR of RNA | Potentially pathogenic | Yes | Oliver et al., 2019b |
| BCR-ABL1 | Yes – extensively published | Oncogenic in several leukemias | Yes | Daley and Ben-Neriah, 1991 and others |
| TMPRSS2-ERG | Yes – extensively published | Oncogenic primarily in prostate cancer | No | Tomlins et al., 2008 and others |
| FRFR2-TACC3 | Yes – extensively published | Oncogenic in cholangiocarcinoma and other solid tumors | No | Costa et al., 2016 and others |
| ALK-EML4 | Yes – extensively published | Oncogenic primarily in lung cancer | No | Sabir et al., 2017 and others |
| SLC45A3-ELK | Yes – extensively published | Oncogenic primarily in prostate cancer | No | Rickman et al., 2009 and others |
| KANSL1-ARL17B | Yes – extensively published | Polymorphic | Yes | Boettger et al., 2012 and others |
| TFG-GPR128 | Yes – extensively published | Polymorphic | Yes | Chase et al., 2009 and others |
Eleven candidates (rows 1–10) originated in prior studies published by the authors. Eight of these were previously experimentally validated and three (one reciprocal) were confirmed pathogenic while the remainder were classified as potentially pathogenic as they involve genes linked to the patient phenotypes. Rows 11–15 describe known pathogenic fusions previously published extensively by others. Rows 16–17 describe known polymorphic events previously published by others.