Size of deleted region (kbp) | Result of microarray ISCN 2016 | Deleted genes | Common deleted genes | |
---|---|---|---|---|
Proband #1 | 1699.55 | arr[GrCh37] 16p11.2(28490479_30190029) × 1 | CLN3, APOBR, IL27, NUPR1, SGF29, SULT1A2, SULT1A1, NPIPB8, EIF3C, EIF3CL, MIR6862-1, MIR6862-2, NPIPB9, ATXN2L , TUFM, MIR4721, SH2B1, ATP2A1, ATP2A1-AS1 , RABEP2, CD19, NFATC2IP, MIR4517, SPNS1, LAT, RRN3P2, SNX29P2, NPIPB11, SMG1P6, BOLA2-SMG1P6, LOC606724, BOLA2, BOLA2B, SLX1B, SLX1A, SLX1A-SULT1A3, SLX1B-SULT1A4, SULT1A4, SULT1A3, LOC388242, LOC613038, SMG1P2, MIR3680-1, MIR3680-2, SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, PAGR1, MVP, CDIPT, CDIPT-AS1, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, LOC101928595, GDPD3, MAPK3 | SMG1P2, MIR3680-1, MIR3680-2, SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, PAGR1, MVP , CDIPT, CDIPT-AS1, SEZ6L2, ASPHD1, KCTD13 , TMEM219, TAOK2 , HIRIP3, INO80E, DOC2A , C16orf92, FAM57B, ALDOA , PPP4C, TBX6 , YPEL3, LOC101928595, GDPD3, MAPK3 |
Proband #2 | 610 | arr[GrCh37] 16p11.2(29580020_30190029) × 1 | SMG1P2, MIR3680-1, MIR3680-2, SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, PAGR1, MVP, CDIPT, CDIPT-AS1, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, LOC101928595, GDPD3, MAPK3 | |
Proband #3 | 761 | arr[GrCh37] 16p11.2(29428531_30190029) × 1 | SMG1P6, BOLA2-SMG1P6, LOC606724, BOLA2, BOLA2B, SLX1B, SLX1A, SLX1A-SULT1A3, SLX1B-SULT1A4, SULT1A4, SULT1A3, LOC388242, LOC613038, SMG1P2, MIR3680-1, MIR3680-2, SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, PAGR1, MVP, CDIPT, CDIPT-AS1, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, LOC101928595, GDPD3, MAPK3 |