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

Chr.16:2089346 on build GRCh38
Cytoband
16p13.3
Assay ID Hs02930421_cn
Size
Availability Made To Order
Catalog # 4400291
Price 4,505.00
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4505.0
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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 13499 NP_000287.3
NM_001009944.2 46 13502 NP_001009944.2
XM_005255370.3 36 11089 XP_005255427.1
XM_011522528.2 47 13527 XP_011520830.1
XM_011522529.2 47 13525 XP_011520831.1
XM_011522530.2 47 13332 XP_011520832.1
XM_011522532.2 46 13260 XP_011520834.1
XM_011522534.2 47 13317 XP_011520836.1
XM_011522535.2 38 11549 XP_011520837.1
XM_011522537.2 36 10460 XP_011520839.1
XM_017023285.1 37 11104 XP_016878774.1
CN268814.1
L33243.1 46 13501 AAC37576.1
U24497.1 46 13428 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 CEMP1 RPL23AP5 LOC100287175 CLCN7 PDPK1 LINC00235 RNF151 SNORA78 MIR3178 SNRNP25 C16orf91 LOC105371045 TMEM204 SYNGR3 DECR2 GNPTG AMDHD2 EME2 LINC00254 RHBDF1 ZNF598 FAM173A SNORA10 RPL3L PRR25 TRAF7 RAB11FIP3 MIR3176 AXIN1 LOC729652 TPSD1 FAHD1 UBE2I SOX8 CCDC154 MIR3677 MRPL28 MSRB1 IFT140 E4F1 SPSB3 MIR6768 TPSG1 NHLRC4 MIR940 SLC9A3R2 IGFALS SSTR5 LOC105371049 ABCA17P DNASE1L2 NME3 SSTR5-AS1 RPS2 NPW MIR4717 DDX11L10 RHOT2 CRAMP1 CASKIN1 MIR6767 UNKL KCTD5 RGS11 HAGHL C1QTNF8 PRSS29P TSR3 LOC105371047 MCRIP2 TELO2 MIR3177 FAM234A MSLN MIR5587 LOC100134368 PDIA2 NPRL3 ECI1 HBZ PKD1 TBC1D24 WASIR2 BRICD5 HBM LOC107987233 RNPS1 CAPN15 LOC105371184 C16orf59 GFER MIR4516 HS3ST6 MIR3180-5 NUBP2 METTL26 LOC101929280 MEIOB TMEM8A SNORA64 HBQ1 TPSB2 NARFL CACNA1H LOC105371038 STUB1 TPSAB1 SNHG9 BAIAP3 PRSS27 ATP6V0C MIR6511B1 NTHL1 HBA1 PRR35 NOXO1 LOC105371046 TSC2 SNHG19 GNG13 CCDC78 NDUFB10 LOC106660606 MIR662 LUC7L ERVK13-1 WDR90 CHTF18 FLJ42627 WDR24 PTX4 LMF1-AS1 NME4 CCNF MRPS34 HBA2 MIR1225 WFIKKN1 PGP RPUSD1 TBL3 RHBDL1 NTN3 LOC652276 MPG MIR6859-4 HAGH LMF1 ABCA3 LOC107984876 METRN RAB40C SNORD60 HN1L MAPK8IP3 PIGQ JMJD8 MLST8 POLR3K FBXL16 RAB26 ARHGDIG
nsv471072 Chr.16:1971892 - 2317508 on Build GRCh38 Loss MIR3677 MIR6511B1 NTHL1 NOXO1 TSC2 SNHG19 ECI1 LOC106660606 PKD1 E4F1 SYNGR3 BRICD5 MIR940 SLC9A3R2 RNPS1 LOC105371049 MIR1225 PGP DNASE1L2 TBL3 ZNF598 GFER MIR4516 NPW MIR4717 ABCA3 MIR3180-5 CASKIN1 SNORD60 TRAF7 MLST8 RAB26
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion MIR6511B1 NTHL1 NOXO1 TBL3 ZNF598 TSC2 RPS2 GFER MIR4516 SNORA10 NPW HS3ST6 NDUFB10 MSRB1 RNF151 SNORA78 RPL3L PKD1 SYNGR3 SNORA64 SNHG9 SLC9A3R2 LOC105371049 MIR1225
dgv4861n54 Chr.16:2083900 - 2246850 on Build GRCh38 Loss MIR6511B1 TSC2 MIR4516 SNHG19 ECI1 MIR3180-5 CASKIN1 SNORD60 PKD1 E4F1 TRAF7 BRICD5 MLST8 RAB26 LOC105371049 MIR1225 PGP DNASE1L2
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion MIR6511B1 NTHL1 NOXO1 TBL3 ZNF598 TSC2 RPS2 GFER SNORA10 NPW NDUFB10 RNF151 SNORA78 PKD1 SYNGR3 SNORA64 SNHG9 SLC9A3R2 LOC105371049 MIR1225
nsv457349 Chr.16:2055054 - 2200730 on Build GRCh38 Loss SNORD60 PKD1 MIR6511B1 TRAF7 TSC2 MIR4516 SNHG19 RAB26 MIR3180-5 LOC105371049 CASKIN1 MIR1225
nsv482186 Chr.16:2088710 - 2135898 on Build GRCh38 Gain PKD1 MIR6511B1 TSC2 MIR4516 LOC105371049 MIR1225
nsv1052260 Chr.16:2074546 - 2629655 on Build GRCh38 Gain MIR3677 CEMP1 MIR6511B1 TSC2 SNHG19 PDPK1 ECI1 LOC106660606 MIR3178 PKD1 E4F1 TBC1D24 MIR6768 AMDHD2 BRICD5 MIR940 CCNF RNPS1 LOC105371049 MIR1225 ABCA17P PGP DNASE1L2 C16orf59 MIR4516 NTN3 LOC652276 MIR4717 ABCA3 MIR3180-5 CASKIN1 MIR6767 SNORD60 TRAF7 LOC729652 MLST8 RAB26 ATP6V0C

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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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