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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 MIR1225 LOC105371049 PKD1
esv2422427 Chr.16:10001 - 2723164 on Build GRCh38 Duplication FAM234A WASIR2 SLC9A3R2 RHOT2 EME2 LOC652276 PDIA2 HAGHL MIR4516 IFT140 LOC100134368 GFER NARFL FLJ42627 SNHG19 LOC105371038 NME4 SSTR5 AMDHD2 MLST8 C16orf59 LOC107984876 LMF1 PTX4 NPRL3 CHTF18 MIR3677 PDPK1 PRSS27 WFIKKN1 NTN3 TPSAB1 NOXO1 TMEM204 JMJD8 MAPK8IP3 CACNA1H DNASE1L2 RPUSD1 PRSS29P MIR6859-4 TBC1D24 MIR6511B1 MRPL28 MIR1225 RPS2 ABCA17P LOC105371046 PKD1 LOC100287175 ERVK13-1 SNORA64 SYNGR3 RPL23AP5 CLCN7 ZNF598 ATP6V0C NME3 PGP POLR3K ECI1 BAIAP3 SNRNP25 NTHL1 LOC729652 MEIOB MIR3180-5 MIR3177 LOC105371047 LOC105371045 MSRB1 NDUFB10 RAB40C TPSG1 NUBP2 SSTR5-AS1 MIR6768 E4F1 TRAF7 LOC106660606 TBL3 LOC105371184 CASKIN1 PRR25 C1QTNF8 HBZ RAB26 MRPS34 CCNF IGFALS LOC107987233 KCTD5 C16orf91 SNORD60 PRR35 SNORA10 HS3ST6 FAHD1 CEMP1 TSR3 TMEM8A PIGQ TELO2 LINC00235 WDR90 NHLRC4 STUB1 CCDC154 GNG13 HBM MIR5587 RHBDL1 SOX8 MIR6767 HBA2 HN1L DDX11L10 SPSB3 MIR3178 RGS11 LMF1-AS1 BRICD5 LOC101929280 NPW LOC105371049 MSLN DECR2 METRN RPL3L MIR4717 UBE2I METTL26 MIR940 CAPN15 CCDC78 MIR662 HAGH RHBDF1 HBA1 HBQ1 LUC7L UNKL MCRIP2 RNPS1 TSC2 RAB11FIP3 CRAMP1 ABCA3 TPSB2 ARHGDIG AXIN1 MIR3176 FBXL16 RNF151 MPG FAM173A SNORA78 TPSD1 GNPTG SNHG9 WDR24 LINC00254
dgv4859n54 Chr.16:1971892 - 2264400 on Build GRCh38 Loss SLC9A3R2 DNASE1L2 E4F1 TRAF7 TBL3 MIR4516 CASKIN1 RAB26 MIR6511B1 MIR1225 SNORD60 GFER RNPS1 TSC2 SNHG19 PKD1 MLST8 SYNGR3 ZNF598 PGP ECI1 NTHL1 BRICD5 NPW LOC105371049 NOXO1 MIR3180-5
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion SNORA64 SLC9A3R2 SYNGR3 MSRB1 NDUFB10 RNF151 ZNF598 TBL3 MIR4516 SNORA78 MIR6511B1 MIR1225 RPS2 SNORA10 GFER NTHL1 HS3ST6 NPW LOC105371049 TSC2 NOXO1 SNHG9 PKD1 RPL3L
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion SNORA64 SLC9A3R2 SYNGR3 NDUFB10 RNF151 ZNF598 TBL3 SNORA78 MIR6511B1 MIR1225 RPS2 SNORA10 GFER NTHL1 NPW LOC105371049 TSC2 NOXO1 SNHG9 PKD1
dgv4861n54 Chr.16:2083900 - 2246850 on Build GRCh38 Loss DNASE1L2 E4F1 TRAF7 MIR4516 CASKIN1 PGP RAB26 ECI1 MIR6511B1 MIR1225 SNORD60 BRICD5 LOC105371049 TSC2 SNHG19 PKD1 MIR3180-5 MLST8
nsv571190 Chr.16:2055054 - 2200730 on Build GRCh38 Loss MIR1225 SNORD60 TRAF7 LOC105371049 TSC2 SNHG19 MIR4516 CASKIN1 PKD1 RAB26 MIR3180-5 MIR6511B1
nsv1052260 Chr.16:2074546 - 2629655 on Build GRCh38 Gain LOC652276 MIR940 DNASE1L2 MIR6768 E4F1 TBC1D24 TRAF7 LOC106660606 MIR4516 CASKIN1 RAB26 CCNF MIR6511B1 MIR1225 SNORD60 ABCA17P RNPS1 CEMP1 TSC2 SNHG19 ABCA3 PKD1 AMDHD2 MLST8 C16orf59 MIR3677 ATP6V0C PGP ECI1 PDPK1 MIR6767 MIR3178 NTN3 BRICD5 LOC105371049 LOC729652 MIR4717 MIR3180-5
nsv471381 Chr.16:2088710 - 2135898 on Build GRCh38 Gain MIR1225 LOC105371049 TSC2 MIR4516 PKD1 MIR6511B1

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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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