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