Name: [Hs03939396_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 35

Gene Symbol	Transcript Accession	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
	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	BAIAP3 RNF151 LMF1-AS1 MIR3178 PRR25 MIR662 MIR1225 PKD1 RAB11FIP3 DECR2 SNORD60 PTX4 MIR6511B1 SLC9A3R2 LMF1 TSC2 LOC105371045 SNHG9 HBQ1 WFIKKN1 TMEM8A CASKIN1 RPL3L UNKL HS3ST6 MCRIP2 MIR5587 E4F1 LOC100287175 TMEM204 METRN C1QTNF8 MSRB1 SNORA78 MIR3176 PGP TELO2 RHBDL1 LOC105371046 TPSG1 ABCA3 IFT140 KCTD5 LOC105371038 CLCN7 TPSB2 LOC729652 MSLN C16orf59 RPL23AP5 SNHG19 ERVK13-1 SNORA10 C16orf91 WDR24 MIR4717 EME2 MPG CCDC78 NARFL LOC106660606 MEIOB TPSD1 PRR35 NTN3 NOXO1 HAGH LOC105371047 AXIN1 DNASE1L2 LOC652276 LOC107987233 TPSAB1 MAPK8IP3 BRICD5 SSTR5-AS1 CRAMP1 SSTR5 ECI1 MIR4516 RPS2 RHBDF1 ZNF598 GFER CCDC154 JMJD8 SPSB3 RHOT2 HBZ MRPL28 LOC101929280 FAM173A LOC107984876 CHTF18 NPRL3 STUB1 FAM234A CAPN15 TBC1D24 LINC00254 RNPS1 PDIA2 NHLRC4 HN1L CEMP1 PDPK1 GNPTG NTHL1 LOC100134368 SNRNP25 SYNGR3 NME3 RGS11 IGFALS CACNA1H MLST8 TBL3 NPW MIR3177 LOC105371184 POLR3K NUBP2 NDUFB10 ARHGDIG CCNF SNORA64 UBE2I NME4 RPUSD1 METTL26 MIR3677 WASIR2 TSR3 SOX8 MIR6767 MIR3180-5 MRPS34 ATP6V0C TRAF7 HAGHL LUC7L PIGQ FLJ42627 FAHD1 AMDHD2 GNG13 RAB26 MIR940 LINC00235 MIR6768 ABCA17P DDX11L10 LOC105371049 HBA2 PRSS29P RAB40C MIR6859-4 HBA1 PRSS27 HBM FBXL16 WDR90
nsv523037	Chr.16:1971892 - 2083900 on Build GRCh38	Loss	SYNGR3 NOXO1 NTHL1 SLC9A3R2 TBL3 NPW ZNF598 GFER TSC2
nsv952901	Chr.16:1888800 - 2135899 on Build GRCh38	Deletion	RNF151 SYNGR3 SNHG9 MSRB1 NOXO1 SNORA78 RPL3L TBL3 NPW HS3ST6 LOC105371049 MIR1225 PKD1 NDUFB10 MIR4516 SNORA10 MIR6511B1 RPS2 SNORA64 NTHL1 SLC9A3R2 ZNF598 GFER TSC2
nsv1160329	Chr.16:1961727 - 2128574 on Build GRCh38	Deletion	RNF151 SYNGR3 SNHG9 NOXO1 SNORA78 TBL3 NPW LOC105371049 MIR1225 PKD1 NDUFB10 SNORA10 MIR6511B1 RPS2 SNORA64 NTHL1 SLC9A3R2 ZNF598 GFER TSC2
dgv4861n54	Chr.16:2083900 - 2246850 on Build GRCh38	Loss	RAB26 MLST8 PGP DNASE1L2 CASKIN1 MIR3180-5 LOC105371049 MIR1225 PKD1 BRICD5 SNORD60 ECI1 E4F1 SNHG19 TRAF7 MIR4516 MIR6511B1 TSC2
nsv571190	Chr.16:2055054 - 2200730 on Build GRCh38	Loss	MIR1225 PKD1 SNORD60 SNHG19 TRAF7 MIR4516 RAB26 MIR6511B1 CASKIN1 TSC2 MIR3180-5 LOC105371049
nsv1052260	Chr.16:2074546 - 2629655 on Build GRCh38	Gain	MIR3677 PGP MIR3178 MIR6767 TBC1D24 ABCA3 MIR3180-5 RNPS1 MIR1225 PKD1 LOC729652 C16orf59 SNORD60 CEMP1 SNHG19 PDPK1 ATP6V0C TRAF7 MIR6511B1 MIR4717 TSC2 LOC106660606 AMDHD2 NTN3 RAB26 MLST8 MIR940 DNASE1L2 CASKIN1 MIR6768 LOC652276 ABCA17P LOC105371049 BRICD5 ECI1 E4F1 MIR4516 CCNF