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

Chr.16:2097165 on build GRCh38
Cytoband
16p13.3
Assay ID Hs00172472_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:

 Overlaps Intron 39 - Exon 39
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
PKD1 NM_000296.3 NP_000287.3
NM_001009944.2 NP_001009944.2
XM_005255370.3 XP_005255427.1
XM_011522528.2 XP_011520830.1
XM_011522529.2 XP_011520831.1
XM_011522530.2 XP_011520832.1
XM_011522532.2 XP_011520834.1
XM_011522534.2 XP_011520836.1
XM_011522535.2 XP_011520837.1
XM_011522537.2 XP_011520839.1
XM_017023285.1 XP_016878774.1
AB209025.1 BAD92262.1
AB209675.1 BAD92912.1
L33243.1 AAC37576.1
U24497.1 AAC50128.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv2422427 Chr.16:10001 - 2723164 on Build GRCh38 Duplication AXIN1 LOC105371184 RHBDF1 MIR1225 CHTF18 TSR3 MEIOB PDPK1 SSTR5 HBA1 HN1L LINC00235 HBM PKD1 KCTD5 LOC105371047 SNHG9 ECI1 MIR3180-5 ZNF598 NHLRC4 RAB11FIP3 WFIKKN1 NDUFB10 MCRIP2 RAB40C LOC105371038 RPS2 CASKIN1 CCDC78 FAHD1 RHOT2 PDIA2 HBQ1 SOX8 LOC105371045 NME3 MIR6767 C1QTNF8 LMF1 RGS11 NPW GNPTG TELO2 ABCA17P METRN ERVK13-1 LOC100134368 E4F1 TPSD1 NTN3 PRSS29P PRR25 FLJ42627 LINC00254 TMEM8A ATP6V0C FAM173A NPRL3 GNG13 MLST8 WDR90 SPSB3 PTX4 TBL3 RAB26 MIR3176 HBZ SSTR5-AS1 MIR6511B1 RPL23AP5 IGFALS LOC729652 TSC2 SLC9A3R2 BAIAP3 TMEM204 MSRB1 LOC106660606 FAM234A MRPL28 NME4 PRSS27 SYNGR3 LOC100287175 WDR24 SNORD60 C16orf59 MIR940 EME2 CLCN7 LOC105371046 ABCA3 PRR35 MAPK8IP3 PGP SNORA10 RNF151 MIR4516 SNORA64 METTL26 MIR6768 LOC101929280 FBXL16 RPUSD1 TBC1D24 POLR3K NOXO1 MIR662 WASIR2 TPSB2 CCDC154 TPSG1 TPSAB1 CEMP1 JMJD8 DECR2 DDX11L10 NUBP2 MIR4717 TRAF7 CAPN15 MIR6859-4 GFER AMDHD2 IFT140 LMF1-AS1 MPG HAGH RPL3L NARFL RHBDL1 LOC105371049 HAGHL CCNF LOC107984876 MIR3677 UNKL DNASE1L2 MIR3177 CRAMP1 LOC107987233 LOC652276 SNRNP25 BRICD5 SNORA78 MSLN NTHL1 ARHGDIG C16orf91 HBA2 CACNA1H SNHG19 LUC7L MIR5587 MIR3178 MRPS34 STUB1 PIGQ RNPS1 UBE2I HS3ST6
nsv471072 Chr.16:1971892 - 2317508 on Build GRCh38 Loss TSC2 MIR1225 SLC9A3R2 NPW MIR4717 LOC106660606 TRAF7 PKD1 GFER SYNGR3 ECI1 MIR3180-5 ZNF598 E4F1 LOC105371049 SNORD60 MIR940 MIR3677 ABCA3 DNASE1L2 PGP BRICD5 CASKIN1 MIR4516 MLST8 NTHL1 NOXO1 SNHG19 TBL3 RAB26 RNPS1 MIR6511B1
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion TSC2 SNORA10 RNF151 RPS2 MIR1225 SNORA78 SLC9A3R2 NPW MSRB1 MIR4516 SNORA64 NTHL1 PKD1 GFER SNHG9 NOXO1 SYNGR3 RPL3L ZNF598 LOC105371049 TBL3 NDUFB10 MIR6511B1 HS3ST6
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion TSC2 SNORA10 RNF151 RPS2 MIR1225 SNORA78 SLC9A3R2 NPW SNORA64 NTHL1 PKD1 GFER SNHG9 NOXO1 SYNGR3 ZNF598 LOC105371049 TBL3 NDUFB10 MIR6511B1
dgv4861n54 Chr.16:2083900 - 2246850 on Build GRCh38 Loss PGP TSC2 BRICD5 MIR1225 CASKIN1 MIR4516 TRAF7 MLST8 PKD1 ECI1 MIR3180-5 E4F1 SNHG19 LOC105371049 SNORD60 RAB26 MIR6511B1 DNASE1L2
nsv457349 Chr.16:2055054 - 2200730 on Build GRCh38 Loss TSC2 MIR3180-5 MIR1225 SNHG19 CASKIN1 LOC105371049 MIR4516 SNORD60 TRAF7 RAB26 PKD1 MIR6511B1
nsv827505 Chr.16:2094447 - 2140472 on Build GRCh38 Gain MIR3180-5 LOC105371049 MIR4516 PKD1 MIR6511B1
nsv1052260 Chr.16:2074546 - 2629655 on Build GRCh38 Gain LOC729652 TSC2 MIR1225 PDPK1 MIR4717 LOC106660606 TRAF7 PKD1 AMDHD2 ABCA17P ECI1 MIR3180-5 E4F1 LOC105371049 SNORD60 CCNF C16orf59 MIR940 NTN3 MIR3677 ABCA3 DNASE1L2 PGP LOC652276 BRICD5 ATP6V0C CASKIN1 MIR4516 MLST8 MIR6768 TBC1D24 SNHG19 MIR3178 RAB26 RNPS1 MIR6767 MIR6511B1 CEMP1
nsv482186 Chr.16:2088710 - 2135898 on Build GRCh38 Gain TSC2 MIR1225 LOC105371049 MIR4516 PKD1 MIR6511B1
esv26918 Chr.16:2091142 - 2123135 on Build GRCh38 Gain+Loss LOC105371049 PKD1 MIR6511B1

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More Information


Set Membership:

 Intragenic Non-exonic DGV Variation

Panther Classification:

Molecular Function -

ion channel

Gene Ontology Categories:

Function(s) Process(es)


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