TABLE 1.
UOB family | FH deletion | Size of deletion | Additional deleted/partially deleted genes | Minimum range of deletion (GRCh37/hg19) |
|
---|---|---|---|---|---|
Starta | Finisha | ||||
UOB-4428 | Complete | ~4.74 Mb | RYR2, ZP4, CHRM3, FMN2, GREM2, RGS7, KMO, OPN3, CHML, WDR64, EXO1, PLD5 | Chr1:237,941,801 | Chr1:242,677,983 |
UOB-4366 | Complete | ~2.40 Mb | CHRM3, FMN2, GREM2, RGS7, KMO, OPN3, CHML, WDR64, EXO1, PLD5 | Chr1:239,927,943 | Chr1:242,322,958 |
UOB-3952 | Complete | ~2.25 Mb | CHRM3, FMN2, GREM2, RGS7, KMO, OPN3, CHML, WDR64, EXO1, PLD5 | Chr1:240,071,458 | Chr1:242,322,958 |
UOB-1126 | Complete | ~1.83 Mb | RGS7, KMO, OPN 3, CHML, WDR64, EXO1, PLD5 | Chr1:240,845,554 | Chr1:242,677,983 |
UOB-4636 | Complete | ~1.25 Mb | RGS7, KMO, OPN3, CHML, WDR64, EXO1 | Chr1:240,849,498 | Chr1:242,094,956 |
UOB-4087 | Complete | ~981 kb | RGS7, KMO, OPN3, CHML, WDR64 | Chr1:240,918,766 | Chr1:241,900,239 |
UOB-1815 | Complete | 484 kbb | RGS7, KMO, OPN3, CHML, WDR64 | Chr1:241,465,096b | Chr1:241,949,083b |
UOB-4391 | Complete | 249 kbb | KMO, OPN3, CHML, WDR64 | Chr1:241,650,802b | Chr1:241,900,239b |
UOB-4515 | Complete | Unknown | N/A | N/A | N/A |
UOB-4431 | Complete | Unknown | N/A | N/A | N/A |
UOB-4861 | Complete | Unknown | N/A | N/A | N/A |
UOB-4862 | Partial | Unknown | N/A | Exon 7 | Downstream of Exon 10 |
UOB-4838 | Partial | 4.01 kbb | None | Chr1: 241,683,108b | Chr1: 241,684,038b |
Start and Finish coordinates represent the position of the first and last CGH array probes lost respectively and demonstrate the minimum range of the deletion based on CGH array probes.
Deletion mapped to the exact base pair breakpoint.