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