Name: [Hs03948680_cn] [TSC2]
Creator: Thermo Fisher Scientific
Keywords: [TSC2] Assay, [tuberous sclerosis 2] Assay

Genomic Map

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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 34

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
	AK094152.1	1	694
	AK125096.1
	AK295672.1
	AK295728.1
	AK299343.1
	BC025364.1			AAH25364.1
	BC046929.1			AAH46929.1
	BC150300.1
	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	LOC729652 TPSD1 TBC1D24 CRAMP1 GNG13 STUB1 SPSB3 NARFL RAB40C HAGH HBA2 MIR3677 SNHG9 LMF1-AS1 LOC100134368 NTHL1 TPSB2 ECI1 DDX11L10 MPG E4F1 TSR3 METTL26 RNPS1 FAM173A PRSS29P MIR4717 MSLN TRAF7 MIR6859-4 ABCA17P CCDC78 NME4 IFT140 HBQ1 LOC105371049 WDR24 GNPTG LOC652276 C16orf59 TPSG1 ERVK13-1 HBM PDPK1 LOC107987233 NPRL3 NUBP2 LOC105371184 NTN3 MRPS34 LINC00254 HAGHL CCNF PDIA2 RPL23AP5 C1QTNF8 CEMP1 ABCA3 C16orf91 SNORD60 WASIR2 NME3 JMJD8 LOC107984876 LOC105371038 CCDC154 DNASE1L2 MEIOB RAB26 MIR3180-5 RAB11FIP3 LOC105371046 SNRNP25 PIGQ TSC2 LOC100287175 MRPL28 RNF151 EME2 HN1L FBXL16 SNORA78 CHTF18 MIR662 RHBDL1 CACNA1H METRN CLCN7 DECR2 RHBDF1 MAPK8IP3 RHOT2 AMDHD2 FAM234A TMEM204 SSTR5 ZNF598 MIR940 LUC7L IGFALS PGP MSRB1 LINC00235 PKD1 LOC101929280 MIR6768 SNORA10 ATP6V0C UNKL MIR3177 RPUSD1 KCTD5 RGS11 LOC106660606 MIR3176 WDR90 TMEM8A CAPN15 MIR6767 MIR4516 AXIN1 PTX4 GFER MIR3178 HBZ SNORA64 SLC9A3R2 TBL3 POLR3K UBE2I MIR5587 SSTR5-AS1 PRR25 WFIKKN1 CASKIN1 LOC105371047 SNHG19 BAIAP3 FAHD1 HS3ST6 NPW MCRIP2 NDUFB10 PRR35 BRICD5 HBA1 MIR6511B1 MLST8 RPS2 RPL3L PRSS27 TELO2 MIR1225 ARHGDIG NOXO1 LMF1 FLJ42627 LOC105371045 SYNGR3 NHLRC4 TPSAB1 SOX8
nsv471072	Chr.16:1971892 - 2317508 on Build GRCh38	Loss	LOC105371049 MIR4516 GFER SLC9A3R2 TBL3 CASKIN1 SNHG19 ZNF598 ABCA3 MIR940 MIR3677 PGP NPW SNORD60 NTHL1 PKD1 ECI1 BRICD5 E4F1 MIR6511B1 MLST8 RNPS1 MIR4717 MIR1225 DNASE1L2 NOXO1 RAB26 MIR3180-5 TRAF7 LOC106660606 SYNGR3 TSC2
nsv952901	Chr.16:1888800 - 2135899 on Build GRCh38	Deletion	SNHG9 SNORA78 LOC105371049 MIR4516 GFER HS3ST6 NPW MSRB1 NDUFB10 NTHL1 PKD1 SNORA64 SNORA10 SLC9A3R2 MIR6511B1 RPS2 RPL3L MIR1225 TBL3 NOXO1 SYNGR3 ZNF598 TSC2 RNF151
nsv1160329	Chr.16:1961727 - 2128574 on Build GRCh38	Deletion	SNHG9 SNORA78 LOC105371049 GFER NPW NDUFB10 NTHL1 PKD1 SNORA64 SNORA10 SLC9A3R2 MIR6511B1 RPS2 MIR1225 TBL3 NOXO1 SYNGR3 ZNF598 TSC2 RNF151
nsv457349	Chr.16:2055054 - 2200730 on Build GRCh38	Loss	LOC105371049 MIR4516 MIR1225 RAB26 MIR3180-5 TRAF7 SNORD60 CASKIN1 PKD1 SNHG19 TSC2 MIR6511B1
nsv1052260	Chr.16:2074546 - 2629655 on Build GRCh38	Gain	LOC105371049 MIR6767 MIR4516 LOC729652 MIR3178 LOC652276 C16orf59 TBC1D24 PDPK1 NTN3 AMDHD2 CASKIN1 CCNF SNHG19 CEMP1 ABCA3 MIR940 MIR3677 PGP SNORD60 PKD1 ECI1 MIR6768 BRICD5 E4F1 ATP6V0C MIR6511B1 MLST8 RNPS1 MIR4717 MIR1225 DNASE1L2 RAB26 MIR3180-5 TRAF7 LOC106660606 ABCA17P TSC2