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See other PKD1 CNV Assays ›
Gene Symbol
PKD1
Assay Reference Genome
Location

Chr.16:2089577 on build GRCh38
Cytoband
16p13.3
Assay ID Hs01690407_cn
Size
Availability Made To Order
Catalog # 4400291
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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:

 Within Exon 51
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
PKD1 NM_000296.3 46 13268 NP_000287.3
NM_001009944.2 46 13271 NP_001009944.2
XM_005255370.3 36 10858 XP_005255427.1
XM_011522528.2 47 13296 XP_011520830.1
XM_011522529.2 47 13294 XP_011520831.1
XM_011522530.2 47 13101 XP_011520832.1
XM_011522532.2 46 13029 XP_011520834.1
XM_011522534.2 47 13086 XP_011520836.1
XM_011522535.2 38 11318 XP_011520837.1
XM_011522537.2 36 10229 XP_011520839.1
XM_017023285.1 37 10873 XP_016878774.1
L33243.1 46 13270 AAC37576.1
U24497.1 46 13197 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 PKD1 LOC105371049 MIR1225
esv2422427 Chr.16:10001 - 2723164 on Build GRCh38 Duplication TSR3 MRPS34 FLJ42627 HS3ST6 MIR4516 C16orf91 SYNGR3 SOX8 HBQ1 MIR6511B1 HAGH MIR5587 SPSB3 RPL3L SNORA78 LOC652276 FAM234A TBL3 MCRIP2 TRAF7 LOC100287175 LUC7L KCTD5 RPL23AP5 PRSS29P ERVK13-1 SNRNP25 NME4 CHTF18 CCNF CEMP1 ECI1 PIGQ RNF151 C1QTNF8 PDPK1 MSLN FAHD1 UNKL TELO2 TPSB2 MIR3176 DNASE1L2 RPUSD1 GNG13 MIR3677 LMF1 CACNA1H WFIKKN1 HBA2 NUBP2 MIR6859-4 AXIN1 SNORA64 HBA1 MIR4717 MPG LOC107984876 LOC101929280 MIR1225 ARHGDIG WASIR2 CASKIN1 RHBDF1 NDUFB10 IFT140 RGS11 LOC107987233 NTN3 RHBDL1 LOC105371045 MIR3178 TPSG1 WDR24 HBM HN1L LMF1-AS1 MLST8 MEIOB NARFL MIR6767 POLR3K SNORA10 MIR662 RAB26 UBE2I RPS2 RHOT2 PKD1 AMDHD2 SNHG9 MIR940 ABCA17P TSC2 GFER LOC105371049 PRR25 PGP HBZ MIR6768 ATP6V0C MIR3180-5 JMJD8 LOC105371047 METRN TBC1D24 TMEM8A RNPS1 RAB11FIP3 BRICD5 NOXO1 NTHL1 LOC105371046 BAIAP3 SSTR5 HAGHL MSRB1 ABCA3 TPSD1 MRPL28 LOC105371184 DDX11L10 LOC100134368 METTL26 CCDC154 C16orf59 NPRL3 SSTR5-AS1 SNHG19 PDIA2 IGFALS NHLRC4 CCDC78 MAPK8IP3 DECR2 GNPTG SLC9A3R2 SNORD60 LINC00254 LINC00235 NPW PRSS27 EME2 NME3 CLCN7 E4F1 LOC729652 LOC106660606 ZNF598 LOC105371038 FBXL16 CAPN15 PRR35 MIR3177 RAB40C CRAMP1 PTX4 STUB1 TPSAB1 TMEM204 WDR90 FAM173A
nsv471072 Chr.16:1971892 - 2317508 on Build GRCh38 Loss PKD1 MIR4516 SYNGR3 MIR6511B1 MIR4717 MIR940 SNHG19 TSC2 TBL3 GFER LOC105371049 MIR1225 CASKIN1 PGP TRAF7 MIR3180-5 SLC9A3R2 SNORD60 NPW ECI1 RNPS1 BRICD5 NOXO1 E4F1 MLST8 LOC106660606 NTHL1 ZNF598 DNASE1L2 MIR3677 RAB26 ABCA3
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion NPW PKD1 HS3ST6 SNORA64 MIR4516 SYNGR3 MIR6511B1 SNHG9 RNF151 NOXO1 RPL3L SNORA78 TSC2 TBL3 GFER LOC105371049 MIR1225 NTHL1 NDUFB10 ZNF598 SLC9A3R2 SNORA10 MSRB1 RPS2
dgv4861n54 Chr.16:2083900 - 2246850 on Build GRCh38 Loss PKD1 MIR4516 ECI1 BRICD5 MIR6511B1 SNHG19 TSC2 E4F1 LOC105371049 MIR1225 MLST8 CASKIN1 PGP TRAF7 DNASE1L2 MIR3180-5 SNORD60 RAB26
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion NPW PKD1 SNORA64 SYNGR3 MIR6511B1 SNHG9 RNF151 NOXO1 SNORA78 TSC2 TBL3 GFER LOC105371049 MIR1225 NTHL1 NDUFB10 ZNF598 SLC9A3R2 SNORA10 RPS2
nsv457349 Chr.16:2055054 - 2200730 on Build GRCh38 Loss TRAF7 PKD1 MIR4516 MIR3180-5 MIR6511B1 SNHG19 SNORD60 RAB26 TSC2 LOC105371049 MIR1225 CASKIN1
nsv482186 Chr.16:2088710 - 2135898 on Build GRCh38 Gain PKD1 MIR4516 MIR6511B1 TSC2 LOC105371049 MIR1225
nsv1052260 Chr.16:2074546 - 2629655 on Build GRCh38 Gain PKD1 MIR4516 C16orf59 AMDHD2 MIR6511B1 MIR4717 MIR940 ABCA17P SNHG19 TSC2 LOC652276 LOC105371049 MIR1225 CASKIN1 PGP TRAF7 MIR6768 ATP6V0C MIR3180-5 NTN3 SNORD60 MIR3178 TBC1D24 CCNF CEMP1 ECI1 RNPS1 BRICD5 E4F1 LOC729652 MLST8 PDPK1 LOC106660606 DNASE1L2 MIR3677 MIR6767 RAB26 ABCA3

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More Information


Set Membership:

 Intragenic Exonic DGV Variation

Panther Classification:

Molecular Function -

ion channel

Gene Ontology Categories:

Function(s) Process(es)


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