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

Chr.16:2088992 on build GRCh38
Cytoband
16p13.3
Assay ID Hs02150762_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 13853 NP_000287.3
NM_001009944.2 46 13856 NP_001009944.2
XM_005255370.3 36 11443 XP_005255427.1
XM_011522528.2 47 13881 XP_011520830.1
XM_011522529.2 47 13879 XP_011520831.1
XM_011522530.2 47 13686 XP_011520832.1
XM_011522532.2 46 13614 XP_011520834.1
XM_011522534.2 47 13671 XP_011520836.1
XM_011522535.2 38 11903 XP_011520837.1
XM_011522537.2 36 10814 XP_011520839.1
XM_017023285.1 37 11458 XP_016878774.1
CN268814.1 1 328
L33243.1 46 13855 AAC37576.1
U24497.1 46 13782 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 LOC105371049 PKD1
esv2422427 Chr.16:10001 - 2723164 on Build GRCh38 Duplication E4F1 CCNF BRICD5 LMF1 LINC00254 AXIN1 SNORA64 METRN RNF151 TBL3 LOC107987233 LOC105371049 MAPK8IP3 MRPS34 TELO2 KCTD5 C16orf59 SNORA78 MIR6768 PDPK1 MSLN TPSG1 NPRL3 MIR6859-4 RNPS1 RPS2 DECR2 WDR90 ARHGDIG LMF1-AS1 LOC652276 WFIKKN1 MIR6767 MPG PKD1 LUC7L NHLRC4 TMEM204 CHTF18 SNHG19 LOC101929280 NTHL1 JMJD8 DDX11L10 STUB1 HAGH TMEM8A C1QTNF8 BAIAP3 RHBDF1 ATP6V0C MIR4717 PIGQ IGFALS RAB11FIP3 PRSS27 LOC729652 TRAF7 CLCN7 GNPTG LOC100134368 DNASE1L2 MIR662 LOC105371038 RPL23AP5 ERVK13-1 PDIA2 PRR25 MIR3677 IFT140 SSTR5-AS1 MIR5587 RHOT2 WASIR2 LINC00235 MIR940 CEMP1 MLST8 LOC100287175 NME3 PGP TPSB2 AMDHD2 EME2 MIR3178 RAB26 PRSS29P PRR35 FAHD1 TSR3 NDUFB10 FBXL16 MIR1225 HN1L HAGHL SNHG9 HBA2 CCDC154 HS3ST6 HBA1 MEIOB NUBP2 ABCA3 GNG13 CASKIN1 MSRB1 CACNA1H WDR24 LOC105371047 SNORA10 TSC2 HBZ RPUSD1 SLC9A3R2 SPSB3 MCRIP2 RAB40C MIR3180-5 NPW NOXO1 RPL3L PTX4 LOC106660606 RHBDL1 SNRNP25 TPSD1 HBQ1 NME4 NTN3 FAM173A ABCA17P LOC107984876 C16orf91 UNKL MIR6511B1 LOC105371045 ECI1 NARFL MIR3176 FLJ42627 CAPN15 SNORD60 TBC1D24 ZNF598 FAM234A SOX8 MRPL28 METTL26 MIR3177 CCDC78 SSTR5 HBM RGS11 GFER CRAMP1 UBE2I POLR3K LOC105371046 SYNGR3 LOC105371184 TPSAB1 MIR4516
dgv4859n54 Chr.16:1971892 - 2264400 on Build GRCh38 Loss E4F1 MIR1225 BRICD5 ECI1 TBL3 SNORD60 LOC105371049 TRAF7 ZNF598 DNASE1L2 CASKIN1 TSC2 SLC9A3R2 MLST8 MIR3180-5 NPW PGP NOXO1 RNPS1 GFER RAB26 PKD1 SYNGR3 SNHG19 NTHL1 MIR4516 MIR6511B1
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion MIR1225 SNHG9 NPW SNORA64 NOXO1 HS3ST6 RPL3L RNF151 GFER RPS2 TBL3 LOC105371049 ZNF598 PKD1 MSRB1 SYNGR3 SNORA10 TSC2 NDUFB10 NTHL1 SLC9A3R2 SNORA78 MIR4516 MIR6511B1
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion MIR1225 SNHG9 NPW SNORA64 NOXO1 RNF151 GFER RPS2 TBL3 LOC105371049 ZNF598 PKD1 SYNGR3 SNORA10 TSC2 NDUFB10 NTHL1 SLC9A3R2 SNORA78 MIR6511B1
dgv4861n54 Chr.16:2083900 - 2246850 on Build GRCh38 Loss E4F1 MIR1225 BRICD5 MLST8 MIR3180-5 ECI1 PGP SNORD60 LOC105371049 TRAF7 DNASE1L2 RAB26 CASKIN1 PKD1 TSC2 SNHG19 MIR4516 MIR6511B1
nsv571190 Chr.16:2055054 - 2200730 on Build GRCh38 Loss MIR1225 LOC105371049 TRAF7 RAB26 CASKIN1 PKD1 MIR3180-5 TSC2 SNHG19 SNORD60 MIR4516 MIR6511B1
nsv1052260 Chr.16:2074546 - 2629655 on Build GRCh38 Gain E4F1 MIR1225 CCNF BRICD5 ECI1 ATP6V0C MIR4717 SNORD60 LOC729652 LOC105371049 ABCA3 TBC1D24 TRAF7 DNASE1L2 CASKIN1 MIR3677 TSC2 C16orf59 MIR6768 PDPK1 MIR940 CEMP1 MLST8 MIR3180-5 PGP RNPS1 AMDHD2 LOC106660606 MIR3178 LOC652276 RAB26 MIR6767 NTN3 PKD1 ABCA17P SNHG19 MIR4516 MIR6511B1
nsv471381 Chr.16:2088710 - 2135898 on Build GRCh38 Gain MIR1225 LOC105371049 PKD1 TSC2 MIR4516 MIR6511B1

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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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