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

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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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