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

Chr.16:2090051 on build GRCh38
Cytoband
16p13.3
Assay ID Hs02175313_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 12794 NP_000287.3
NM_001009944.2 46 12797 NP_001009944.2
XM_005255370.3 36 10384 XP_005255427.1
XM_011522528.2 47 12822 XP_011520830.1
XM_011522529.2 47 12820 XP_011520831.1
XM_011522530.2 47 12627 XP_011520832.1
XM_011522532.2 46 12555 XP_011520834.1
XM_011522534.2 47 12612 XP_011520836.1
XM_011522535.2 38 10844 XP_011520837.1
XM_011522537.2 36 9755 XP_011520839.1
XM_017023285.1 37 10399 XP_016878774.1
AK309422.1 4 827
L33243.1 46 12796 AAC37576.1
U24497.1 46 12723 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 PKD1 LOC105371049
esv2422427 Chr.16:10001 - 2723164 on Build GRCh38 Duplication LOC652276 IFT140 LOC100287175 SYNGR3 GNG13 MAPK8IP3 LOC105371038 NME3 HAGH RPL23AP5 CHTF18 MIR5587 TPSD1 MIR3176 RAB26 DECR2 TELO2 LOC107984876 CASKIN1 RNF151 C1QTNF8 METTL26 EME2 RAB11FIP3 TSC2 LOC105371047 MSLN TBC1D24 FLJ42627 NPRL3 UBE2I CAPN15 LINC00235 KCTD5 HBM MEIOB MIR662 ABCA17P TPSAB1 NARFL PRR35 C16orf59 SOX8 MLST8 HAGHL LMF1-AS1 HBA2 PGP TRAF7 TMEM8A MIR3180-5 RPUSD1 MIR4717 SNHG19 RHBDL1 SLC9A3R2 MIR3178 GFER ATP6V0C SNRNP25 MSRB1 RPS2 LINC00254 WFIKKN1 PRR25 CCDC78 PRSS29P NUBP2 CEMP1 MIR6859-4 HBQ1 ARHGDIG CCNF AMDHD2 MPG PDPK1 MIR6768 PRSS27 DDX11L10 TMEM204 PDIA2 PIGQ LOC729652 MCRIP2 WDR90 HBA1 FAHD1 DNASE1L2 RPL3L NHLRC4 SNORA10 ZNF598 LMF1 MIR6511B1 NPW LUC7L CACNA1H PKD1 LOC100134368 AXIN1 STUB1 ECI1 MIR1225 MIR6767 CRAMP1 MIR3677 SNORA78 SSTR5-AS1 RNPS1 MRPL28 HBZ TSR3 ERVK13-1 LOC105371046 IGFALS UNKL NME4 MIR3177 SSTR5 TPSB2 JMJD8 E4F1 LOC105371049 RHOT2 TPSG1 RGS11 MRPS34 NTN3 HS3ST6 ABCA3 NOXO1 NTHL1 CCDC154 RHBDF1 FAM173A TBL3 PTX4 SNHG9 SNORA64 LOC101929280 RAB40C GNPTG LOC105371184 BRICD5 METRN LOC107987233 FBXL16 CLCN7 MIR4516 WASIR2 MIR940 C16orf91 NDUFB10 LOC105371045 BAIAP3 LOC106660606 SPSB3 FAM234A HN1L SNORD60 POLR3K WDR24
nsv471072 Chr.16:1971892 - 2317508 on Build GRCh38 Loss SYNGR3 E4F1 LOC105371049 MLST8 PGP TRAF7 ABCA3 MIR3180-5 NOXO1 NTHL1 MIR4717 SNHG19 DNASE1L2 RAB26 TBL3 ZNF598 SLC9A3R2 MIR6511B1 NPW CASKIN1 BRICD5 GFER PKD1 ECI1 TSC2 MIR1225 MIR4516 MIR940 LOC106660606 MIR3677 SNORD60 RNPS1
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion SLC9A3R2 MIR6511B1 NPW RNF151 GFER SYNGR3 MSRB1 PKD1 RPS2 LOC105371049 TSC2 MIR1225 MIR4516 HS3ST6 NOXO1 NTHL1 NDUFB10 SNORA78 TBL3 RPL3L SNHG9 SNORA64 SNORA10 ZNF598
dgv4861n54 Chr.16:2083900 - 2246850 on Build GRCh38 Loss MIR6511B1 CASKIN1 BRICD5 PKD1 E4F1 ECI1 LOC105371049 MLST8 TSC2 MIR1225 MIR4516 PGP TRAF7 MIR3180-5 SNHG19 DNASE1L2 SNORD60 RAB26
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion SLC9A3R2 MIR6511B1 NPW RNF151 GFER SYNGR3 PKD1 RPS2 LOC105371049 TSC2 MIR1225 NOXO1 NTHL1 NDUFB10 SNORA78 TBL3 SNHG9 SNORA64 SNORA10 ZNF598
nsv457349 Chr.16:2055054 - 2200730 on Build GRCh38 Loss MIR1225 MIR4516 MIR6511B1 TRAF7 CASKIN1 MIR3180-5 PKD1 SNHG19 SNORD60 RAB26 LOC105371049 TSC2
nsv482186 Chr.16:2088710 - 2135898 on Build GRCh38 Gain MIR1225 MIR4516 MIR6511B1 PKD1 LOC105371049 TSC2
nsv1052260 Chr.16:2074546 - 2629655 on Build GRCh38 Gain ABCA17P CCNF LOC652276 AMDHD2 C16orf59 PDPK1 E4F1 LOC105371049 MIR6768 MLST8 LOC729652 NTN3 PGP TRAF7 ABCA3 MIR3180-5 MIR4717 SNHG19 DNASE1L2 RAB26 MIR6511B1 MIR3178 CASKIN1 BRICD5 ATP6V0C PKD1 ECI1 TSC2 MIR1225 MIR6767 MIR4516 TBC1D24 MIR940 CEMP1 LOC106660606 MIR3677 SNORD60 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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