Name: [Hs02079908_cn] [PKD1]
Creator: Thermo Fisher Scientific
Keywords: [PKD1] Assay, [polycystin 1, transient receptor potential channel interacting] Assay

Genomic Map

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Assay Details

Target Gene Details

Entrez Gene ID:	5310
Gene Name:	polycystin 1, transient receptor potential channel interacting
Gene Aliases:	PBP, Pc-1, TRPP1
Location:	Chr.16:2088708-2135898 on Build GRCh38
Assay Gene Location:	Overlaps Intron 49 - Exon 50

Gene Symbol	Transcript Accession	Protein ID
PKD1	NM_000296.3	NP_000287.3
	NM_001009944.2	NP_001009944.2
	XM_005255370.3	XP_005255427.1
	XM_011522528.2	XP_011520830.1
	XM_011522529.2	XP_011520831.1
	XM_011522530.2	XP_011520832.1
	XM_011522532.2	XP_011520834.1
	XM_011522534.2	XP_011520836.1
	XM_011522535.2	XP_011520837.1
	XM_011522537.2	XP_011520839.1
	XM_017023285.1	XP_016878774.1
	AK309422.1
	L33243.1	AAC37576.1
	U24497.1	AAC50128.1

Target Copy Number Variation Details

DGV Version:

Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
dgv4862n54	Chr.16:2088868 - 2095128 on Build GRCh38	Loss	LOC105371049 MIR1225 PKD1
esv2422427	Chr.16:10001 - 2723164 on Build GRCh38	Duplication	LOC105371038 TMEM8A MEIOB CLCN7 NARFL RHOT2 MPG LOC107987233 NOXO1 LINC00254 GNG13 HN1L FAHD1 CCNF MIR3677 HBZ NPRL3 POLR3K MIR6511B1 LOC101929280 SSTR5 MLST8 NME4 MIR940 FLJ42627 FAM234A SNORD60 CEMP1 UBE2I C1QTNF8 MIR6767 RPL23AP5 LOC100287175 WDR24 LOC105371045 SNORA78 MIR4717 PRSS29P LOC105371047 WFIKKN1 NTN3 SSTR5-AS1 MCRIP2 TPSG1 LUC7L MSRB1 MIR4516 RHBDF1 MIR3178 BAIAP3 MIR6768 SLC9A3R2 UNKL PGP SNORA64 AXIN1 IFT140 TBC1D24 AMDHD2 LOC107984876 LOC100134368 STUB1 WDR90 MIR3180-5 SPSB3 NTHL1 MIR5587 HAGHL RPUSD1 CAPN15 NHLRC4 SOX8 ZNF598 NME3 RHBDL1 DNASE1L2 RAB26 SYNGR3 LOC729652 METRN E4F1 LOC106660606 PRR25 FAM173A PRSS27 ECI1 MIR3177 MIR1225 HBQ1 GFER PIGQ RPL3L CCDC78 RNF151 C16orf91 LOC105371184 RAB11FIP3 WASIR2 CHTF18 PTX4 MIR3176 KCTD5 MIR662 TSR3 EME2 DDX11L10 HBM ABCA3 TMEM204 TRAF7 MIR6859-4 CACNA1H NPW TPSD1 TPSB2 DECR2 NDUFB10 JMJD8 ERVK13-1 SNRNP25 HBA1 FBXL16 SNHG9 LINC00235 PRR35 CRAMP1 HBA2 SNHG19 LMF1-AS1 PDIA2 CCDC154 METTL26 MAPK8IP3 BRICD5 RAB40C RGS11 MSLN CASKIN1 ATP6V0C HS3ST6 TSC2 C16orf59 PDPK1 LOC105371049 TBL3 RNPS1 MRPS34 TPSAB1 PKD1 NUBP2 HAGH IGFALS GNPTG MRPL28 ABCA17P LOC105371046 LOC652276 RPS2 SNORA10 TELO2 LMF1 ARHGDIG
nsv471072	Chr.16:1971892 - 2317508 on Build GRCh38	Loss	SNHG19 MIR1225 GFER SLC9A3R2 PGP NOXO1 BRICD5 MIR3677 CASKIN1 MIR6511B1 TSC2 MIR3180-5 MLST8 NTHL1 ABCA3 MIR940 SNORD60 LOC105371049 ZNF598 TBL3 RNPS1 TRAF7 DNASE1L2 RAB26 NPW SYNGR3 PKD1 MIR4717 E4F1 LOC106660606 MIR4516 ECI1
nsv952901	Chr.16:1888800 - 2135899 on Build GRCh38	Deletion	LOC105371049 ZNF598 MIR1225 TBL3 GFER SLC9A3R2 RPL3L RNF151 NPW SNORA64 SYNGR3 PKD1 SNORA78 NOXO1 NDUFB10 RPS2 MIR6511B1 SNORA10 SNHG9 HS3ST6 MSRB1 MIR4516 TSC2 NTHL1
dgv4861n54	Chr.16:2083900 - 2246850 on Build GRCh38	Loss	SNORD60 LOC105371049 SNHG19 MIR1225 TRAF7 DNASE1L2 RAB26 PGP PKD1 BRICD5 E4F1 CASKIN1 MIR6511B1 MIR4516 TSC2 MIR3180-5 MLST8 ECI1
nsv1160329	Chr.16:1961727 - 2128574 on Build GRCh38	Deletion	LOC105371049 ZNF598 MIR1225 TBL3 GFER SLC9A3R2 RNF151 NPW SNORA64 SYNGR3 PKD1 SNORA78 NOXO1 NDUFB10 RPS2 MIR6511B1 SNORA10 SNHG9 TSC2 NTHL1
nsv457349	Chr.16:2055054 - 2200730 on Build GRCh38	Loss	SNORD60 LOC105371049 SNHG19 MIR1225 CASKIN1 TRAF7 MIR6511B1 RAB26 MIR4516 TSC2 PKD1 MIR3180-5
nsv482186	Chr.16:2088710 - 2135898 on Build GRCh38	Gain	LOC105371049 MIR1225 MIR6511B1 MIR4516 TSC2 PKD1
nsv1052260	Chr.16:2074546 - 2629655 on Build GRCh38	Gain	SNHG19 MIR1225 MIR6768 PGP BRICD5 TBC1D24 CCNF MIR3677 CASKIN1 ATP6V0C AMDHD2 MIR6511B1 TSC2 MIR3180-5 C16orf59 MLST8 ABCA3 PDPK1 MIR940 SNORD60 LOC105371049 CEMP1 MIR6767 RNPS1 TRAF7 DNASE1L2 RAB26 PKD1 LOC729652 MIR4717 NTN3 E4F1 ABCA17P LOC652276 LOC106660606 MIR4516 MIR3178 ECI1