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See other TSC2 CNV Assays ›
Gene Symbol
TSC2
Assay Reference Genome
Location

Chr.16:2056128 on build GRCh38
Cytoband
16p13.3
Assay ID Hs04454001_cn
Size
Availability Made To Order
Catalog # 4400291
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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 7
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
TSC2 NM_000548.4 NP_000539.2
NM_001077183.2 NP_001070651.1
NM_001114382.2 NP_001107854.1
NM_001318827.1 NP_001305756.1
NM_001318829.1 NP_001305758.1
NM_001318831.1 NP_001305760.1
NM_001318832.1 NP_001305761.1
XM_005255529.4 XP_005255586.2
XM_005255531.4 XP_005255588.2
XM_011522636.2 XP_011520938.1
XM_011522637.2 XP_011520939.1
XM_011522638.2 XP_011520940.2
XM_011522639.2 XP_011520941.1
XM_011522640.2 XP_011520942.1
XM_017023615.1 XP_016879104.1
XM_017023616.1 XP_016879105.1
XM_017023617.1 XP_016879106.1
XM_017023618.1 XP_016879107.1
AB210000.1
AK295672.1
AK295728.1
AK299343.1
BC150300.1
BF194994.1
BX647816.1 CAI46010.1
KJ534954.1
KJ534955.1
KJ534956.1
KJ534957.1
KJ534958.1
KJ534982.1
KJ534983.1
KJ534984.1
KJ534985.1
KJ535011.1
KJ535022.1
KJ535038.1
KJ535039.1
KJ535051.1
KJ535091.1
KJ535094.1
X75621.1 CAA53287.1

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 E4F1 GFER EME2 LOC652276 MIR6767 SNORA78 RPL3L CACNA1H IGFALS FAHD1 PTX4 POLR3K LOC106660606 BAIAP3 LINC00235 HAGH STUB1 FBXL16 FAM234A CASKIN1 MEIOB PRSS29P MIR3177 C16orf91 RHBDF1 LINC00254 PKD1 MRPL28 SOX8 DNASE1L2 ABCA17P LOC105371047 ERVK13-1 DDX11L10 KCTD5 CLCN7 AXIN1 LOC107984876 PDPK1 SSTR5 RGS11 SYNGR3 TMEM204 PRSS27 PDIA2 RNF151 MPG TPSAB1 RAB26 HN1L RPUSD1 ZNF598 CCNF HBQ1 MSLN LOC105371046 SNORA10 JMJD8 BRICD5 NUBP2 CAPN15 METTL26 WFIKKN1 MIR4516 MIR6768 MAPK8IP3 METRN TMEM8A NPRL3 TPSB2 MIR5587 UBE2I CCDC154 LOC105371045 MIR3178 C1QTNF8 RPS2 LMF1-AS1 NPW CHTF18 FLJ42627 MIR662 SNORD60 PRR25 SNRNP25 LOC107987233 ECI1 SNHG9 HBZ NME3 TSC2 TBL3 MIR1225 SSTR5-AS1 NARFL TRAF7 ABCA3 SPSB3 ARHGDIG MSRB1 RAB40C MIR6859-4 CRAMP1 RNPS1 HBA1 NHLRC4 LOC729652 UNKL AMDHD2 FAM173A WASIR2 SNORA64 MCRIP2 HS3ST6 TBC1D24 LOC105371049 TSR3 NTHL1 DECR2 GNG13 RHBDL1 RHOT2 SLC9A3R2 PGP NME4 TPSD1 WDR24 WDR90 LOC105371184 RPL23AP5 MIR3677 TELO2 LOC100287175 MIR4717 NDUFB10 RAB11FIP3 LOC105371038 C16orf59 MIR3176 CCDC78 IFT140 HBM MLST8 MIR940 MRPS34 ATP6V0C CEMP1 NOXO1 LOC101929280 PIGQ HBA2 NTN3 TPSG1 HAGHL SNHG19 GNPTG MIR3180-5 LUC7L MIR6511B1 LOC100134368 LMF1 PRR35
nsv523037 Chr.16:1971892 - 2083900 on Build GRCh38 Loss GFER SLC9A3R2 TSC2 NPW ZNF598 NOXO1 TBL3 NTHL1 SYNGR3
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion GFER NDUFB10 MIR1225 RNF151 SNORA64 RPS2 SNORA78 NPW RPL3L PKD1 ZNF598 HS3ST6 LOC105371049 NTHL1 MSRB1 SNORA10 SLC9A3R2 SNHG9 MIR6511B1 TSC2 MIR4516 NOXO1 TBL3 SYNGR3
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion GFER NDUFB10 MIR1225 RNF151 SNORA64 RPS2 SNORA78 NPW PKD1 ZNF598 LOC105371049 NTHL1 SNORA10 SLC9A3R2 SNHG9 MIR6511B1 TSC2 NOXO1 TBL3 SYNGR3
nsv571190 Chr.16:2055054 - 2200730 on Build GRCh38 Loss MIR3180-5 MIR1225 MIR6511B1 CASKIN1 TSC2 RAB26 MIR4516 TRAF7 PKD1 SNORD60 SNHG19 LOC105371049

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