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. 2024 Jul 26;143(7):921–938. doi: 10.1007/s00439-024-02693-y

Table 1.

Details regarding the breakpoints and the disrupted genes for the cases highlighted in this manuscript. Genomic coordinates refer to GRCh38/hg38

Subject_ID break chr break_start break_end gene_start gene_end strand gene_name gene_type
DGAP148 1 chrX 39882591 39882592 . . . . .
DGAP148 2 chr11 127040509 127040509 127021736 127172363 + ENSG00000255087 lncRNA
DGAP191 1 chr5 89411065 89411070 88883328 89466398 + MEF2C-AS1 lncRNA
DGAP191 2 chr7 94378248 94378255 94278680 94395608 - ENSG00000285090 lncRNA
DGAP218 1 chr5 24272189 24272193 . . . . .
DGAP218 2 chr5 89105026 89105031 88883328 89466398 + MEF2C-AS1 lncRNA
DGAP245 1 chr3 36927650 36927959 36826819 36945057 - TRANK1 protein_coding
DGAP245 2 chr14 29276109 29276117 28936889 29372406 + ENSG00000258028 lncRNA
DGAP245 2 chr14 29276109 29276117 29210986 29392048 - ENSG00000257522 lncRNA
DGAP353 1 chr14 65855359 65855360 . . . . .
DGAP353 2 chr17 61393812 61393841 61361668 61400243 - ENSG00000267131 lncRNA
DGAP353 2 chr17 61393812 61393841 61393455 61411555 - TBX2-AS1 lncRNA
DGAP355 1 chr3 181488756 181489591 180989762 181836880 + SOX2-OT lncRNA
DGAP355 2 chr9 74712100 74713321 . . . . .
NIJ1 1 chr8 78898169 78898172 78805293 78956082 + MITA1 lncRNA
NIJ1 2 chr14 29296328 29296331 28936889 29372406 + ENSG00000258028 lncRNA
NIJ1 2 chr14 29296328 29296331 29210986 29392048 - ENSG00000257522 lncRNA