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

Chr.16:2089496 on build GRCh38
Cytoband
16p13.3
Assay ID Hs00257896_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 13349 NP_000287.3
NM_001009944.2 46 13352 NP_001009944.2
XM_005255370.3 36 10939 XP_005255427.1
XM_011522528.2 47 13377 XP_011520830.1
XM_011522529.2 47 13375 XP_011520831.1
XM_011522530.2 47 13182 XP_011520832.1
XM_011522532.2 46 13110 XP_011520834.1
XM_011522534.2 47 13167 XP_011520836.1
XM_011522535.2 38 11399 XP_011520837.1
XM_011522537.2 36 10310 XP_011520839.1
XM_017023285.1 37 10954 XP_016878774.1
L33243.1 46 13351 AAC37576.1
U24497.1 46 13278 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 WDR90 PIGQ LOC105371038 LOC729652 TPSB2 TPSG1 HBA1 WASIR2 NOXO1 RHOT2 MIR6859-4 NHLRC4 MPG LOC100134368 CAPN15 NDUFB10 MRPS34 BRICD5 MIR6511B1 C16orf59 RAB26 LINC00254 MIR6767 NTN3 CCDC154 LINC00235 CHTF18 POLR3K LOC101929280 HBZ PGP LOC107987233 GNPTG MAPK8IP3 CCNF NME4 CACNA1H AXIN1 MIR6768 ARHGDIG JMJD8 METTL26 FLJ42627 BAIAP3 PDPK1 MIR3180-5 LOC106660606 FAM173A MIR4717 RAB40C RHBDF1 RNPS1 PRSS27 WDR24 LOC100287175 MSLN C16orf91 MIR3178 MIR1225 MIR3176 IFT140 KCTD5 UBE2I TELO2 MIR5587 MIR4516 FAM234A MSRB1 RPL3L MIR662 SPSB3 PRR25 HAGHL SNORD60 SLC9A3R2 TPSAB1 TRAF7 LOC107984876 LOC105371184 LMF1 CASKIN1 HBA2 LOC105371045 NARFL ECI1 MLST8 STUB1 NME3 DNASE1L2 PRR35 RNF151 WFIKKN1 GNG13 FBXL16 PKD1 RAB11FIP3 EME2 RGS11 SYNGR3 HN1L TPSD1 MIR3677 ERVK13-1 MIR3177 DDX11L10 TBC1D24 MIR940 TMEM8A LUC7L IGFALS RPS2 C1QTNF8 TBL3 SNORA10 ATP6V0C NUBP2 SSTR5-AS1 PDIA2 METRN LOC105371049 ZNF598 RHBDL1 AMDHD2 CCDC78 MCRIP2 ABCA3 SNHG9 NPW HBQ1 PRSS29P CRAMP1 SNORA64 UNKL ABCA17P HBM FAHD1 TSR3 SOX8 LOC105371046 PTX4 MRPL28 LOC652276 LOC105371047 SNRNP25 NTHL1 NPRL3 E4F1 CLCN7 CEMP1 HAGH GFER SNHG19 RPL23AP5 TSC2 DECR2 MEIOB TMEM204 HS3ST6 SSTR5 RPUSD1 LMF1-AS1 SNORA78
nsv471072 Chr.16:1971892 - 2317508 on Build GRCh38 Loss ECI1 ABCA3 MLST8 NPW MIR3180-5 NOXO1 LOC106660606 DNASE1L2 MIR4717 PKD1 BRICD5 MIR6511B1 RNPS1 RAB26 SYNGR3 MIR1225 NTHL1 MIR3677 MIR940 PGP E4F1 MIR4516 TBL3 GFER SNHG19 TSC2 SNORD60 SLC9A3R2 TRAF7 LOC105371049 CASKIN1 ZNF598
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion SNHG9 NPW NOXO1 SNORA64 MIR4516 RNF151 MSRB1 RPL3L RPS2 NDUFB10 PKD1 TBL3 GFER MIR6511B1 TSC2 SNORA10 HS3ST6 SLC9A3R2 SYNGR3 LOC105371049 MIR1225 SNORA78 ZNF598 NTHL1
dgv4861n54 Chr.16:2083900 - 2246850 on Build GRCh38 Loss ECI1 MLST8 PGP MIR3180-5 DNASE1L2 E4F1 MIR4516 PKD1 BRICD5 MIR6511B1 SNHG19 TSC2 SNORD60 RAB26 TRAF7 LOC105371049 MIR1225 CASKIN1
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion SNHG9 NPW NOXO1 SNORA64 RNF151 RPS2 NDUFB10 PKD1 TBL3 GFER MIR6511B1 TSC2 SNORA10 SLC9A3R2 SYNGR3 LOC105371049 MIR1225 SNORA78 ZNF598 NTHL1
nsv457349 Chr.16:2055054 - 2200730 on Build GRCh38 Loss PKD1 MIR6511B1 SNHG19 TSC2 SNORD60 RAB26 MIR3180-5 TRAF7 LOC105371049 MIR4516 MIR1225 CASKIN1
nsv482186 Chr.16:2088710 - 2135898 on Build GRCh38 Gain PKD1 MIR6511B1 TSC2 LOC105371049 MIR4516 MIR1225
nsv1052260 Chr.16:2074546 - 2629655 on Build GRCh38 Gain AMDHD2 ECI1 ABCA3 MLST8 PDPK1 LOC729652 MIR3180-5 LOC106660606 DNASE1L2 MIR4717 ABCA17P PKD1 BRICD5 MIR6511B1 C16orf59 RNPS1 RAB26 MIR6767 MIR3178 MIR1225 LOC652276 MIR3677 NTN3 TBC1D24 MIR940 PGP E4F1 MIR4516 CEMP1 CCNF SNHG19 TSC2 ATP6V0C MIR6768 SNORD60 TRAF7 LOC105371049 CASKIN1

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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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