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 13 |
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 | LINC00235 LOC100287175 WDR24 SLC9A3R2 SNHG9 LOC105371047 LOC100134368 METRN RHBDF1 MIR3178 TBL3 AXIN1 ARHGDIG SNORA78 UNKL TRAF7 PIGQ NDUFB10 IFT140 TPSB2 MCRIP2 SNORA10 GFER MIR1225 RPL3L EME2 HBZ TPSG1 RHOT2 NTHL1 FBXL16 RHBDL1 MSRB1 RAB11FIP3 LOC107984876 LMF1 TSC2 LMF1-AS1 HBA2 MIR940 LOC729652 HN1L SSTR5 BAIAP3 ABCA3 RNF151 CCDC78 C1QTNF8 NPW MRPL28 RAB40C RNPS1 PDPK1 DNASE1L2 HBA1 CRAMP1 HS3ST6 MPG SSTR5-AS1 NHLRC4 SPSB3 NUBP2 LOC105371049 LOC105371184 HBQ1 RPUSD1 MIR3177 TPSAB1 NARFL HAGHL PRR25 PTX4 SYNGR3 LOC105371045 SNORA64 HBM LOC652276 AMDHD2 METTL26 MIR4516 PRSS27 NPRL3 E4F1 RPS2 NME3 TSR3 LOC105371038 MIR4717 HAGH CEMP1 DECR2 MAPK8IP3 IGFALS MIR5587 MIR3180-5 CHTF18 MIR3176 LOC106660606 TBC1D24 CACNA1H MIR662 GNG13 TELO2 ECI1 WFIKKN1 JMJD8 LOC105371046 FAM173A CASKIN1 MSLN CCDC154 NTN3 FAM234A WDR90 MLST8 SNHG19 GNPTG SNRNP25 RGS11 POLR3K LUC7L PKD1 CLCN7 MIR3677 SOX8 PRR35 C16orf59 ZNF598 MIR6768 BRICD5 TMEM204 RAB26 NME4 ATP6V0C ERVK13-1 PGP NOXO1 MEIOB TMEM8A MIR6859-4 WASIR2 STUB1 CCNF MIR6767 DDX11L10 RPL23AP5 LOC101929280 PDIA2 MRPS34 SNORD60 MIR6511B1 ABCA17P C16orf91 UBE2I TPSD1 CAPN15 KCTD5 LINC00254 LOC107987233 PRSS29P FLJ42627 FAHD1 |
nsv471072 | Chr.16:1971892 - 2317508 on Build GRCh38 | Loss | PKD1 MIR3677 ABCA3 ZNF598 SLC9A3R2 NPW MIR4516 BRICD5 RAB26 E4F1 RNPS1 PGP MIR4717 DNASE1L2 MIR3180-5 NOXO1 TBL3 LOC106660606 TRAF7 ECI1 GFER LOC105371049 MIR1225 CASKIN1 SNORD60 MIR6511B1 NTHL1 MLST8 SNHG19 TSC2 MIR940 SYNGR3 |
nsv952901 | Chr.16:1888800 - 2135899 on Build GRCh38 | Deletion | PKD1 NDUFB10 SNORA64 RNF151 SNORA10 ZNF598 SLC9A3R2 GFER LOC105371049 SNHG9 NPW MIR1225 RPL3L MIR6511B1 MIR4516 RPS2 NTHL1 MSRB1 NOXO1 TBL3 HS3ST6 SNORA78 TSC2 SYNGR3 |
nsv1160329 | Chr.16:1961727 - 2128574 on Build GRCh38 | Deletion | PKD1 NDUFB10 SNORA64 RNF151 SNORA10 ZNF598 SLC9A3R2 GFER LOC105371049 SNHG9 NPW MIR1225 MIR6511B1 RPS2 NTHL1 NOXO1 TBL3 SNORA78 TSC2 SYNGR3 |
nsv457349 | Chr.16:2055054 - 2200730 on Build GRCh38 | Loss | PKD1 MIR3180-5 SNHG19 LOC105371049 MIR1225 CASKIN1 SNORD60 MIR6511B1 TSC2 MIR4516 TRAF7 RAB26 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |