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, PC1, Pc-1, TRPP1, eliosin
Location:	Chr.16:705067-760109 on Build GRCh38
Assay Gene Location:	Overlaps Intron 49 - Exon 50

Gene Symbol	Transcript Accession	Protein ID
PKD1	NM_000296.4	NP_000287.4
	NM_001009944.3	NP_001009944.3
	XM_005255370.4	XP_005255427.1
	XM_011522528.4	XP_011520830.1
	XM_011522529.3	XP_011520831.1
	XM_011522537.2	XP_011520839.1
	XM_047434208.1	XP_047290164.1
	XM_047434209.1	XP_047290165.1
	XM_047434210.1	XP_047290166.1
	XM_047434211.1	XP_047290167.1
	XM_047434212.1	XP_047290168.1
	XM_047434213.1	XP_047290169.1
	AK309422.1
	L33243.1	AAC37576.1
	PQ628107.1
	U24497.1	AAC50128.1

Target Copy Number Variation Details

DGV Version:

Release date: 2025-12-01, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
dgv4862n54	Chr.16:2088868 - 2095128 on Build GRCh38	Loss	PKD1-AS1 MIR1225 TSC2 PKD1
esv2422427	Chr.16:10001 - 2723164 on Build GRCh38	Duplication	WDR24 LOC102723753 NPIPB5 CALB2 ATP6V0C LOC105371038 MRPS34 LOC105371129 BFAR CORO7-PAM16 MIR3677HG CDR2 PRSS27 ABCA17P MSRB1 MIR3670-3 MIR4717 SNHG9 IGFALS RNF151 DECR2 CENPN HMOX2 PDPK1 FAM234A MSLN SNTB2 MIR6511A1 CORO7 UTP4 LOC100287175 WDR90 CRAMP1 SMG1P2 MIR6859-4 MSLNL HBA1 PKD1P6-NPIPP1 TELO2 EME2 CCDC78 MIR6770-2 BMERB1 LINC02124 PKD1-AS1 STUB1 MIR6511A2 NPIPA1 RHBDL1 MIR940 SSTR5 NPW RPS2 CES5A NPIPB3 MIR6768 MAPK8IP3-AS1 GNPTG LOC100288162 IFT140 PRSS29P MIR6767 NDE1 TPSB2 FAHD1 ECI1 NHERF2 CLCN7 TSR3 LOC102723713 LOC131696449 RAB40C RRN3P3 MIR484 MPV17L C16orf46 POLR3K NTN3 LOC124907782 ABCA15P FBXL16 TPSG1 MIR3179-2 MIR6511A3 PARN CIAO3 LOC100505915 ZNF598 LUC7L CHTF18 MIR3670-1 CTRB2 BRICD5 NPIPB11 CACNA1H TMEM204 OTOAP1 KCTD5 MAPK8IP3 SLC7A5P2 WFIKKN1 SMG1P3 MIR3179-3 LOC124903619 PIGQ AXIN1 LINC00235 POLR3E SDR42E2 TNRC6A VWA3A PDZD9 METRN PTX4 PERCC1 LOC100190986 GFER PRSS30P MIR662 DNASE1L2 NPIPA8 OTOA NPIPA3 CRYM VASN SMG1P1 MIR3680-1 HS3ST6 NTHL1 BAIAP3 SOX8 IGSF6 MIR6770-1 LINC02890 PDIA2 PAM16 JMJD8 MIR3179-1 MIR5587 EEF2K ARHGAP17 UNKL-AS1 DNAJA3 RPL23AP5 MRPL28 MIR3180-2 MIR3680-2 ANKS4B GNG13 PKD1P2 SNHG19 ABCC1 NHLRC4 MIR3180-3 LOC101927814 MIR3677 MIR3180-1 CCDC154 SNX29P1 ECI1-AS1 CMC2 NDUFB10 ZP2 CEMP1 RAB26 MFSD13B MIR3180-4 LOC100134368 MARF1 CES1 RPUSD1 NME3 PKD1P1 MIR3178 MPV17L-BMERB1 CEROX1 FLJ42627 TPSD1 HBM MIR3180-5 MIR1972-1 RGS11 LOC102723692 HYDIN GLIS2-AS1 PRR35 RHOT2 METTL9 ZG16B SYNGR3 UBE2I HBA2 LOC728138 LOC105371046 NOMO3 LOC100506281 NPIPA7 ARHGDIG CASKIN1 LOC107987382 LOC107984876 RHBDF1 UNKL MIR1972-2 MLST8 METTL26 NPIPA5 LOC102724014 HAGH ABCC6P2 NPIPB4 TBL3 LOC124903621 MIR3177 NPIPA9 TBC1D24 ERVK13-1 RRN3 GCSH HBZ MIR3176 ABCA3 PDXDC1 MIR6506 SNORD60 MOSMO PRSS22 LOC107987386 TPSAB1 CDIP1 LOC105379545 SLC6A10PB TEDC2-AS1 TEDC2 CAPN15 SNORA10 LOC102723655 TSC2 PKD1 CTRB1 NME4 ANTKMT HAGHL ABCC6 STUB1-DT XYLT1 UBE2I-AS1 LMF1 E4F1 NMRAL1 LOC101929566 LOC102724052 RRN3P1 GLIS2 TRAF7 CEP20 AMDHD2 PKD1L2 PGAP6 LOC652276 CDR2-DT BCAR1 MIR3670-2 LINC00254 CMTR2 BCO1 PLA2G10 SNORA64 SNORA78 NOXO1 MIR4516 MEIOB C1QTNF8 SSTR5-AS1 NPIPA6 SMG1P6 PGP NPRL3 NOMO1 LMF1-AS1 UQCRC2 DDX11L10 LOC105371050 NUBP2 SLC5A11 CCNF ABCC6P1 UQCC4 SPSB3 RPL3L HBQ1 JPT2 SNRNP25 ATMIN NTAN1 MYH11 MPG RAB11FIP3 MIR6511B1 MIR1225 MCRIP2 MIR6511B2 WASIR2 RNPS1
dgv4859n54	Chr.16:1971892 - 2264400 on Build GRCh38	Loss	LOC131696449 PKD1P2 SNHG19 NOXO1 NPIPA7 MIR4516 MIR6770-2 SNORD60 CASKIN1 GFER ECI1-AS1 PKD1-AS1 DNASE1L2 NPIPA6 RAB26 PGP MIR6511A2 MLST8 MIR6511A3 TSC2 PKD1 ZNF598 NTHL1 PKD1P1 E4F1 NPW BRICD5 TBL3 MIR3180-5 TRAF7 MIR6511B1 MIR1225 ECI1 NHERF2 SYNGR3 RNPS1
nsv952901	Chr.16:1888800 - 2135899 on Build GRCh38	Deletion	LOC131696449 PKD1P2 SNORA64 NOMO3 SNORA78 NOXO1 NPIPA7 MIR4516 MIR6770-2 LINC02124 GFER NDUFB10 PKD1-AS1 NPIPA6 SNORA10 MIR3179-2 MIR6511A2 MIR6511A3 TSC2 PKD1 ZNF598 HS3ST6 NTHL1 MSRB1 PKD1P1 SNHG9 RNF151 NPW RPS2 TBL3 RPL3L MIR6511B1 MIR1225 NHERF2 MIR3180-2 MIR3670-2 SYNGR3
nsv1160329	Chr.16:1961727 - 2128574 on Build GRCh38	Deletion	LOC131696449 PKD1P2 SNORA64 SNORA78 NOXO1 NPIPA7 MIR6770-2 GFER NDUFB10 PKD1-AS1 NPIPA6 SNORA10 MIR6511A2 MIR6511A3 TSC2 PKD1 ZNF598 NTHL1 PKD1P1 SNHG9 RNF151 NPW RPS2 TBL3 MIR6511B1 MIR1225 NHERF2 MIR3180-2 MIR3670-2 SYNGR3
dgv4861n54	Chr.16:2083900 - 2246850 on Build GRCh38	Loss	E4F1 SNHG19 MIR4516 BRICD5 SNORD60 CASKIN1 MIR3180-5 ECI1-AS1 PKD1-AS1 DNASE1L2 TRAF7 MIR6511B1 MIR1225 RAB26 PGP ECI1 MLST8 TSC2 PKD1
nsv3239719	Chr.16:2062481 - 2121886 on Build GRCh38	Insertion	PKD1-AS1 MIR6511B1 MIR1225 TSC2 PKD1
nsv571190	Chr.16:2055054 - 2200730 on Build GRCh38	Loss	PKD1-AS1 TRAF7 SNHG19 MIR6511B1 MIR1225 MIR4516 RAB26 SNORD60 TSC2 CASKIN1 PKD1 MIR3180-5
nsv1052260	Chr.16:2074546 - 2629655 on Build GRCh38	Gain	ABCA3 SNHG19 ATP6V0C MIR4516 SNORD60 MIR3677 CASKIN1 ECI1-AS1 NTN3 PKD1-AS1 DNASE1L2 CEMP1 MIR3677HG TEDC2-AS1 TEDC2 RAB26 PGP MLST8 TSC2 PKD1 LOC105371050 ABCA17P MIR4717 MIR940 MIR3178 E4F1 CCNF BRICD5 PDPK1 MIR6768 MIR3180-5 TRAF7 MIR6767 AMDHD2 MIR6511B1 MIR1225 LOC652276 ECI1 TBC1D24 RNPS1
nsv471381	Chr.16:2088710 - 2135898 on Build GRCh38	Gain	PKD1-AS1 MIR6511B1 MIR1225 MIR4516 TSC2 PKD1