Table 2. Read-through transcripts identified by RNA-Seq analysis.
| Read-through name1 | Chr.2 | First transcript (exon)3 | Second transcript (exon)3 | Intergenic region (bp) | N. patients4 | PCR validated | Maintained frame |
|---|---|---|---|---|---|---|---|
| AGRP-ATP6V0D1 | 16 | NM_001138 (3) | NM_004691 (2) | 1,334 | 1 | Yes | No |
| ARF3-FKBP11 | 12 | NM_001659 (4) | NM_001143781 (4) | 9,249 | 1 | Different6 | See Table 3 |
| ARPC4-TTLL3 | 3 | NM_001024959 (5) | NM_001025930 (2) | 360 | 10 | Yes | No |
| CD59-C11orf91 | 11 | NM_203331 (4) | NM_001166692 (2) | NA5 | 2 | Different6 | See Table 3 |
| CHIA-PIFO | 1 | NM_021797 (8) | NM_181643 (2) | 25,722 | 1 | Yes | Yes |
| CTSC-RAB38 | 11 | NM_001814 (5) | NM_022337 (2) | 118,125 | 2 | Yes | Yes |
| NM_001814 (4) | NM_022337 (2) | 1 | No | − | |||
| CTSD-IFITM10 | 11 | NM_001909 (8) | NM_001170820 (2) | 2,161 | 3 | Yes | Yes |
| NM_001909 (7) | NM_001170820 (2) | 2 | No | − | |||
| ELAVL1-TIMM44 | 19 | NM_001419 (4) | NM_006351 (3) | 14,658 | 2 | Different6 | See Table 3 |
| FAM162B-ZUFSP | 6 | NM_001085480 (3) | NM_145062 (2) | 83,406 | 1 | Yes | No |
| FARSA-SYCE2 | 19 | NM_004461 (12) | NM_001105578 (3) | 3,203 | 1 | Yes | Yes |
| HARS2-ZMAT2 | 5 | NM_012208 (13) | NM_144723 (2) | NA5 | 1 | Different6 | See Table 3 |
| HSD17B11-HSD17B13 | 4 | NM_016245 (5) | NM_178135 (2) | 13,704 | 1 | Different6 | See Table 3 |
| IFNAR2-IL10RB | 21 | NM_207584 (7) | NM_000628 (2) | 683 | 1 | Yes | Yes |
| NM_207584 (7) | NM_000628 (3) | 1 | Yes | No | |||
| INMT-FAM188B | 7 | NM_001199219 (2) | NM_032222 (2) | 13,815 | 4 | Yes | No |
| NM_001199219 (2) | NM_032222 (3) | 7 | No | − | |||
| NM_001199219 (3) | NM_032222 (3) | 1 | No7 | − | |||
| KIAA1841-C2orf74 | 2 | NM_032506 (21) | NM_001143960 (2) | NA5 | 1 | Yes | No |
| LMAN2-MXD3 | 5 | NM_006816 (7) | NM_001142935 (4) | 18,805 | 1 | Yes | Yes |
| MBD1-CFAP53 | 18 | NM_001204139 (14) | NM_145020 (2) | 360 | 1 | Yes | No |
| MED22-SURF6 | 9 | NM_133640 (4) | NM_006753 (2) | 1,925 | 1 | Yes | No |
| MRPS17-GBAS | 7 | NM_015969 (1) | NM_001202469 (3) | NA5 | 1 | No7 | − |
| NAA60-CLUAP1 | 16 | NM_001083601 (1) | NM_015041 (2) | 13,961 | 1 | Different6 | See Table 3 |
| NDUFB8-SEC31B | 10 | NM_005004 (4) | NM_015490 (2) | NA5 | 1 | Yes | No |
| NFATC3-PLA2G15 | 16 | NM_173165 (9) | NM_012320 (2) | 16,045 | 2 | Yes | Yes |
| NKX2-1-SFTA3 | 14 | NM_001079668 (2) | NM_001101341 (4) | 2,568 | 5 | Yes | No |
| NM_001079668 (2) | NM_001101341 (2) | 2 | Yes | No | |||
| NM_001079668 (1) | NM_001101341 (2) | 1 | Yes | No | |||
| NM_001079668 (1) | NM_001101341 (4) | 3 | Different6 | See Table 3 | |||
| NM_001079668 (1) | NM_001101341 (3) | 5 | No | − | |||
| PACSIN2-ARFGAP3 | 22 | NM_001184970 (10) | NM_001142293 (3) | NA5 | 1 | Yes | No |
| NM_001184970 (10) | NM_001142293 (4) | 1 | Different6 | See Table 3 | |||
| PIR-FIGF | X | NM_001018109 (9) | NM_004469 (2) | 423 | 1 | Yes | No |
| PLEKHO2-ANKDD1A | 15 | NM_001195059 (2) | NM_182703 (5) | 43,895 | 1 | Yes | Yes |
| NM_001195059 (4) | NM_182703 (5) | 1 | Different6 | See Table 3 | |||
| PPRC1-NOLC1 | 10 | NM_015062 (13) | NM_004741 (4) | 1,851 | 1 | Different6 | See Table 3 |
| SCNN1A-TNFRSF1A | 12 | NM_001159575 (12) | NM_001065 (2) | 4,729 | 2 | Yes | Yes |
| NM_001159575 (12) | NM_001065 (3) | 2 | No | − | |||
| NM_001159575 (13) | NM_001065 (2) | 1 | No7 | - | |||
| NM_001159575 (10) | NM_001065 (2) | 1 | No | - | |||
| NM_001159575 (9) | NM_001065 (2) | 1 | No | - | |||
| SFTPC-BMP1 | 8 | NM_003018 (3) | NM_001199 (2) | 257 | 2 | Yes | No |
| SHANK3-ACR | 22 | NM_033517 (22) | NM_001097 (2) | 4,898 | 1 | Yes | Yes |
| SIRPB1-SIRPD | 20 | NM_001083910 (2) | NM_178460 (2) | 4,678 | 1 | Yes | Yes |
| SNTB2-VPS4A | 16 | NM_006750 (6) | NM_013245 (3) | 2,304 | 1 | Different6 | See Table 3 |
| SPECC1L-ADORA2A | 22 | NM_015330 (13) | NM_000675 (3) | 139 | 1 | Different6 | See Table 3 |
| TSTD1-F11R | 1 | NM_001113205 (1) | NM_016946 (3) | 16,283 | 2 | Different6 | See Table 3 |
| VAMP8-VAMP5 | 2 | NM_003761 (2) | NM_006634 (2) | 2,377 | 5 | Yes | Yes |
| ZDHHC1-TPPP3 | 16 | NM_013304 (10) | NM_016140 (3) | 884 | 1 | Yes | No |
| ZNF343-SNRPB | 20 | NM_024325 (6) | NM_198216 (2) | 10,964 | 1 | No7 | - |
1
Gene1-Gene2 symbol.
2
Chr.: chromosome.
3
Exons joined by the read-through event.
4
Number of patients in which the read-through transcript was identified by bioinformatic analysis of RNA-Seq data.
5
NA: not available; there is no intergenic distance since genes are overlapping.
6
Identification of different read-through fusion points by Sanger-sequencing (see Table 3).
7
No sequence amplified at PCR