Assay Details
Target Gene Details
Entrez Gene ID: | 7249 |
Gene Name: | tuberous sclerosis 2 |
Gene Aliases: |
LAM, PPP1R160, TSC4 |
Location: |
Chr.16:2047804-2088720 on Build GRCh38 |
Assay Gene Location: | Within Intron 24 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2422427 | Chr.16:10001 - 2723164 on Build GRCh38 | Duplication | LOC107987233 LINC00235 HBQ1 LOC105371046 LOC106660606 E4F1 AMDHD2 RHBDL1 MIR6859-4 MSRB1 ABCA17P ECI1 RHOT2 CHTF18 METTL26 PGP NHLRC4 MIR6767 SOX8 SNORA10 FAM234A UNKL HBM TPSAB1 WDR90 RNF151 METRN RAB26 SPSB3 MIR6768 PRR25 NME3 ARHGDIG PRR35 MIR4717 FAHD1 MIR5587 FLJ42627 HS3ST6 LOC100287175 TBC1D24 ABCA3 WASIR2 FAM173A RPUSD1 MIR6511B1 SYNGR3 SNORD60 AXIN1 DECR2 LOC729652 NPW GNPTG PKD1 LOC105371049 LMF1-AS1 SNHG19 RAB40C TPSG1 LOC105371038 CLCN7 WDR24 LOC101929280 TSC2 TPSB2 LOC105371184 MIR4516 RGS11 NTHL1 LOC105371047 TELO2 RHBDF1 CRAMP1 SSTR5 RNPS1 RPL23AP5 HBZ MAPK8IP3 PDIA2 CACNA1H SSTR5-AS1 MCRIP2 CCDC154 TSR3 HN1L CCNF SNHG9 HAGH NME4 MIR1225 MRPS34 KCTD5 NUBP2 BAIAP3 LOC105371045 DDX11L10 MPG TRAF7 CEMP1 LINC00254 LOC107984876 MIR940 C16orf59 MIR3180-5 MIR3177 MIR3677 BRICD5 MRPL28 HBA1 FBXL16 TMEM204 MIR662 GFER PIGQ SNORA78 NOXO1 LOC652276 LUC7L ZNF598 NDUFB10 SLC9A3R2 MEIOB MIR3176 MSLN LMF1 TBL3 CAPN15 RAB11FIP3 PRSS27 TPSD1 EME2 NTN3 C1QTNF8 IFT140 ATP6V0C RPS2 POLR3K HBA2 WFIKKN1 CASKIN1 PTX4 PDPK1 MIR3178 UBE2I TMEM8A GNG13 SNRNP25 ERVK13-1 IGFALS NPRL3 SNORA64 DNASE1L2 C16orf91 RPL3L CCDC78 STUB1 HAGHL NARFL MLST8 JMJD8 LOC100134368 PRSS29P |
nsv471072 | Chr.16:1971892 - 2317508 on Build GRCh38 | Loss | LOC106660606 TBL3 ABCA3 E4F1 MIR6511B1 SYNGR3 MIR1225 SNORD60 ECI1 CASKIN1 NPW PKD1 LOC105371049 TRAF7 MIR940 SNHG19 PGP MIR3180-5 MIR3677 BRICD5 TSC2 DNASE1L2 MIR4516 NTHL1 GFER RAB26 RNPS1 NOXO1 ZNF598 MLST8 SLC9A3R2 MIR4717 |
nsv952901 | Chr.16:1888800 - 2135899 on Build GRCh38 | Deletion | HS3ST6 TBL3 SNORA10 TSC2 SNHG9 SNORA64 MIR4516 RPL3L MIR6511B1 MSRB1 SYNGR3 RPS2 NTHL1 MIR1225 GFER RNF151 SNORA78 NOXO1 NPW PKD1 LOC105371049 ZNF598 NDUFB10 SLC9A3R2 |
nsv1160329 | Chr.16:1961727 - 2128574 on Build GRCh38 | Deletion | TBL3 SNORA10 TSC2 SNHG9 SNORA64 MIR6511B1 SYNGR3 RPS2 NTHL1 MIR1225 GFER RNF151 SNORA78 NOXO1 NPW PKD1 LOC105371049 ZNF598 NDUFB10 SLC9A3R2 |
nsv457349 | Chr.16:2055054 - 2200730 on Build GRCh38 | Loss | MIR3180-5 RAB26 CASKIN1 PKD1 LOC105371049 TSC2 MIR4516 TRAF7 MIR6511B1 MIR1225 SNHG19 SNORD60 |
nsv1052260 | Chr.16:2074546 - 2629655 on Build GRCh38 | Gain | LOC106660606 TBC1D24 ABCA3 CCNF E4F1 NTN3 AMDHD2 ATP6V0C MIR6511B1 MIR1225 SNORD60 ABCA17P ECI1 LOC729652 CASKIN1 PKD1 PDPK1 LOC105371049 MIR3178 TRAF7 CEMP1 MIR940 SNHG19 C16orf59 PGP MIR3180-5 MIR6767 MIR3677 BRICD5 TSC2 DNASE1L2 MIR4516 RAB26 RNPS1 MIR6768 LOC652276 MLST8 MIR4717 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |