Table 2.
Genes located at the breakpoint junctions
| Fusion junction | Chromosomal position | Genes | Fusion junctions at the gene level |
|---|---|---|---|
| Case 1 | |||
| BPJ_3a(+)_3b(−) | chr3:125695543::chr3:133464556 | ROPN1B‐TF | NM_001308313.1:c.235‐304::NM_001063.3:c.‐729 |
| BPJ_3b(−)_3e(−) | chr3:125695544::chr3:174480425 | ROPN1B | NM_001308313.1:c.235‐303::chr3:g.174480425 |
| BPJ_3e(−)_3g(−) | chr3:169592489::chr3:174724061 | NAALADL2 | chr3:g.169592489::NM_207015.2:c.44‐90519 |
| BPJ_3d(+)_3c(+) | chr3:169592488::chr3:133464557 | TF | chr3:g.169592488::NM_001063.3:c.‐728 |
| BPJ_3c(+)_3h(+) | chr3:143880432::chr3:174724062 | NAALADL2 | chr3:g.143880432::NM_207015.2:c.44‐90518 |
| Case 2 | |||
| BPJ_6g(−)_6d(+) | chr6:154434404::chr6:48394698 | OPRM1 | NM_001145279.3:c1444‐5415_5434del20::chr6:g.48394698 |
| BPJ_6f(+)_6a(+) | chr6:154434383::chr6:48385249 | OPRM1 | NM_001145279.3:c1444‐5435::chr6:g.48385249 |
| Case 3 | |||
| BPJ_15a(+)_6a(+) | chr15:40926862::chr6:84684894 | CASC5 | NM_170589.4:c.5760+5293::chr6:g.84684894 |
| BPJ_6x(+)_7c(+) | chr6:111349988::chr7:132596053 | CHCHD3 | chr6:g.111349988::NM_001317177.1:c.370‐24305 |
| BPJ_7a(+)_6b(+) | chr7:132591756::chr6:111349990 | CHCHD3 | NM_001317177.1:c.370‐20008::chr6:g.111349990 |
| BPJ_6b(+)_6p(−) | chr6:123371910::chr6:6793991 | CLVS2 | NM_001010852.3:c.675+2033::chr6:g.6793991 |
| BPJ_15b(−)_6c(−) | chr15:40926874::chr6:84684793 | CASC5 | NM_170589.4:c.5760+5294_5304del11::chr6:g.84684793 |
| BPJ_6c(−)_6q(+) | chr6:6793992::chr6:123371911 | CLVS2 | chr6:g.6793992::NM_001010852.3:c.675+2034 |
| BPJ_6a′(+)_7b | chr6:111343917::chr7:132591776 | RPF2‐CHCHD3 | NM_032194.2:c.597‐1469::NM_001317177.1:c.370‐20028_20009del19 |
Fusion junctions involving gene disruption are listed. Human Genome Variation Society (HGVS; Taschner & Dunnen, 2011) nomenclature is used to describe fusion junctions at the gene level.