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