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: | Overlaps Exon 20 - Intron 20 |
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 | MSLN MIR6859-4 SPSB3 HBA1 HBM ERVK13-1 HN1L PTX4 MSRB1 CRAMP1 NTN3 TELO2 KCTD5 CCNF RHBDF1 POLR3K AMDHD2 ZNF598 SYNGR3 HS3ST6 TMEM204 C1QTNF8 EME2 LMF1 MLST8 FBXL16 RHOT2 TBC1D24 RNPS1 NARFL SNHG9 WDR90 LINC00254 IGFALS MRPL28 MIR3677 MIR940 DECR2 GNPTG LMF1-AS1 DNASE1L2 TRAF7 MIR3178 CACNA1H LOC101929280 WFIKKN1 LOC106660606 SNHG19 TPSG1 RPS2 LOC107987233 RAB26 GFER RNF151 MIR6768 PRR35 FAM173A METTL26 SNRNP25 MRPS34 PDIA2 WDR24 PKD1 HBA2 LOC107984876 MAPK8IP3 PIGQ PRSS27 MIR5587 LOC100134368 SNORA78 TPSD1 C16orf91 HBZ BAIAP3 LOC729652 NHLRC4 GNG13 LOC105371046 MIR662 MIR4516 MIR3180-5 RPUSD1 MPG PRSS29P LOC105371047 AXIN1 FLJ42627 PDPK1 LOC105371045 MIR6767 LOC105371049 MIR4717 SNORD60 WASIR2 LOC100287175 MCRIP2 TMEM8A LOC105371184 ABCA17P METRN LOC652276 RAB40C HBQ1 SSTR5 NPRL3 MIR3176 NUBP2 CEMP1 NOXO1 BRICD5 TSR3 LUC7L HAGHL HAGH NME4 DDX11L10 SNORA10 PGP LINC00235 CASKIN1 TBL3 SNORA64 ECI1 TSC2 FAM234A TPSB2 LOC105371038 RPL23AP5 CCDC154 ARHGDIG RPL3L FAHD1 UNKL C16orf59 STUB1 PRR25 CHTF18 JMJD8 NME3 MIR1225 SLC9A3R2 ABCA3 RGS11 SOX8 TPSAB1 MIR3177 SSTR5-AS1 CAPN15 E4F1 NTHL1 RAB11FIP3 RHBDL1 IFT140 MIR6511B1 CLCN7 NDUFB10 CCDC78 ATP6V0C UBE2I NPW MEIOB |
nsv471072 | Chr.16:1971892 - 2317508 on Build GRCh38 | Loss | DNASE1L2 MIR4516 TRAF7 PGP CASKIN1 TBL3 ECI1 TSC2 MIR3180-5 LOC106660606 SNHG19 ZNF598 RAB26 GFER MIR1225 SYNGR3 SLC9A3R2 ABCA3 LOC105371049 MIR4717 SNORD60 MLST8 E4F1 RNPS1 NTHL1 PKD1 MIR6511B1 NOXO1 BRICD5 NPW MIR3677 MIR940 |
nsv952901 | Chr.16:1888800 - 2135899 on Build GRCh38 | Deletion | MIR4516 SNORA10 MSRB1 TBL3 SNORA64 TSC2 NTHL1 SNHG9 RPL3L PKD1 MIR6511B1 RPS2 NDUFB10 SNORA78 NOXO1 ZNF598 NPW GFER MIR1225 RNF151 SYNGR3 HS3ST6 SLC9A3R2 LOC105371049 |
nsv1160329 | Chr.16:1961727 - 2128574 on Build GRCh38 | Deletion | SNORA10 TBL3 SNORA64 TSC2 NTHL1 SNHG9 PKD1 MIR6511B1 RPS2 NDUFB10 SNORA78 NOXO1 ZNF598 NPW GFER MIR1225 RNF151 SYNGR3 SLC9A3R2 LOC105371049 |
nsv457349 | Chr.16:2055054 - 2200730 on Build GRCh38 | Loss | SNHG19 SNORD60 PKD1 MIR6511B1 MIR4516 TRAF7 CASKIN1 RAB26 MIR1225 TSC2 MIR3180-5 LOC105371049 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |