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

Chr.16:2088992 on build GRCh38
Cytoband
16p13.3
Assay ID Hs02150762_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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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 13853 NP_000287.3
NM_001009944.2 46 13856 NP_001009944.2
XM_005255370.3 36 11443 XP_005255427.1
XM_011522528.2 47 13881 XP_011520830.1
XM_011522529.2 47 13879 XP_011520831.1
XM_011522530.2 47 13686 XP_011520832.1
XM_011522532.2 46 13614 XP_011520834.1
XM_011522534.2 47 13671 XP_011520836.1
XM_011522535.2 38 11903 XP_011520837.1
XM_011522537.2 36 10814 XP_011520839.1
XM_017023285.1 37 11458 XP_016878774.1
CN268814.1 1 328
L33243.1 46 13855 AAC37576.1
U24497.1 46 13782 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 CCDC154 NPRL3 MIR3177 MRPS34 TPSG1 ABCA3 LOC101929280 LOC107987233 MIR940 PTX4 TBL3 CACNA1H STUB1 RGS11 LOC105371184 C16orf91 MIR3176 CEMP1 CLCN7 SNORA10 IGFALS KCTD5 WDR90 METRN TPSD1 DDX11L10 ZNF598 PGP SNHG9 LINC00235 LOC107984876 BAIAP3 C1QTNF8 RPL3L LOC106660606 RNF151 CRAMP1 PIGQ TMEM204 RHBDF1 JMJD8 MSRB1 CAPN15 LUC7L NTN3 HN1L MIR3178 GNPTG NPW TELO2 CCNF LOC105371038 NHLRC4 BRICD5 AMDHD2 SLC9A3R2 MIR5587 LOC105371049 HAGHL METTL26 ARHGDIG MIR6511B1 NARFL SNRNP25 SNORA78 CHTF18 RAB11FIP3 LINC00254 RHOT2 NDUFB10 MIR4717 NUBP2 ECI1 NME4 RAB40C CASKIN1 PDPK1 PRSS27 MLST8 FAM173A MCRIP2 TSC2 FAM234A PRR25 MEIOB HBM MIR3677 LMF1 HBA1 MSLN SNORD60 GFER PRSS29P FLJ42627 RPUSD1 SNHG19 WDR24 PKD1 MAPK8IP3 LOC100287175 IFT140 HBZ TBC1D24 ERVK13-1 MIR4516 DECR2 RPS2 ATP6V0C LMF1-AS1 WFIKKN1 UNKL TPSB2 WASIR2 LOC652276 POLR3K HAGH MIR6859-4 LOC729652 MIR6767 NOXO1 MIR3180-5 SNORA64 HBA2 LOC105371046 E4F1 AXIN1 HS3ST6 MIR1225 MIR662 EME2 TRAF7 SPSB3 HBQ1 LOC105371045 CCDC78 MPG TSR3 RHBDL1 PDIA2 PRR35 GNG13 TMEM8A SOX8 DNASE1L2 FBXL16 RAB26 FAHD1 C16orf59 SSTR5 NME3 SYNGR3 MRPL28 ABCA17P LOC105371047 RPL23AP5 MIR6768 LOC100134368 UBE2I TPSAB1 SSTR5-AS1 RNPS1 NTHL1
nsv471072 Chr.16:1971892 - 2317508 on Build GRCh38 Loss MIR1225 ABCA3 SNORD60 GFER TRAF7 MIR940 BRICD5 SLC9A3R2 TBL3 LOC105371049 SNHG19 PKD1 MIR6511B1 ZNF598 PGP DNASE1L2 RAB26 MIR4717 SYNGR3 LOC106660606 MIR4516 ECI1 NOXO1 MIR3180-5 CASKIN1 MLST8 TSC2 E4F1 NPW MIR3677 RNPS1 NTHL1
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion MIR1225 NDUFB10 SYNGR3 RPL3L MIR4516 RPS2 GFER RNF151 SLC9A3R2 TBL3 LOC105371049 NOXO1 MSRB1 SNORA64 PKD1 SNORA10 TSC2 MIR6511B1 SNORA78 ZNF598 SNHG9 NPW NTHL1 HS3ST6
dgv4861n54 Chr.16:2083900 - 2246850 on Build GRCh38 Loss MIR1225 MIR4516 ECI1 SNORD60 TRAF7 BRICD5 LOC105371049 SNHG19 MIR3180-5 CASKIN1 PKD1 MLST8 TSC2 MIR6511B1 E4F1 PGP DNASE1L2 RAB26
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion MIR1225 NDUFB10 SYNGR3 RPS2 GFER RNF151 SLC9A3R2 TBL3 LOC105371049 NOXO1 SNORA64 PKD1 SNORA10 TSC2 MIR6511B1 SNORA78 ZNF598 SNHG9 NPW NTHL1
nsv457349 Chr.16:2055054 - 2200730 on Build GRCh38 Loss LOC105371049 MIR1225 SNHG19 MIR3180-5 CASKIN1 PKD1 MIR4516 SNORD60 TSC2 TRAF7 MIR6511B1 RAB26
nsv482186 Chr.16:2088710 - 2135898 on Build GRCh38 Gain LOC105371049 MIR1225 PKD1 MIR4516 TSC2 MIR6511B1
nsv1052260 Chr.16:2074546 - 2629655 on Build GRCh38 Gain MIR1225 ABCA3 CCNF SNORD60 TRAF7 MIR940 BRICD5 AMDHD2 LOC105371049 SNHG19 PKD1 CEMP1 MIR6511B1 PGP DNASE1L2 TBC1D24 RAB26 C16orf59 MIR4717 LOC106660606 MIR4516 ECI1 ATP6V0C LOC652276 ABCA17P LOC729652 MIR6767 MIR6768 MIR3180-5 CASKIN1 PDPK1 MLST8 TSC2 NTN3 E4F1 MIR3178 MIR3677 RNPS1

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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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