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