Table 1 Genes locate at six gains and two losses of the rearranged 1q in our patient
Start site (bp) | End site (bp) | Size (Kb) | RefSeq genes | OMIM genes | Disease genes | Autosomal recessive disease genes | Autosomal dominant disease genes |
|---|---|---|---|---|---|---|---|
Six gains | |||||||
166,154,922 | 172,866,584 | 6712 | 132 | 45 | 12 | CD247, TBX19, SLC19A2, F5, GORAB, PRRX1, FMO3, PIGC | ADCY10, F5, PRRX1, MYOC, EEF1AKNMT, FASLG |
172,866,607 | 175,081,899 | 2215 | 51 | 14 | 3 | DARS2, SERPINC1, MRPS14 | SERPINC1 |
182,416,826 | 186,739,165 | 4322 | 68 | 27 | 5 | LAMC2, NCF2, TSEN15, PRG4 | HMCN1 |
192,473,950 | 192,827,064 | 353 | 7 | 3 | 0 | ||
192,827,141 | 192,831,551 | 4 | 0 | 0 | 0 | ||
195,717,189 | 195,784,837 | 68 | 0 | 0 | 0 | ||
Two losses | |||||||
195,857,632 | 195,906,366 | 49 | 0 | 0 | 0 | ||
229,372,123 | 229,387,971 | 16 | 1 | 0 | 0 | ||