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

Chr.16:2090516 on build GRCh38
Cytoband
16p13.3
Assay ID Hs02079908_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 49 - Exon 50
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
AK309422.1
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
dgv4862n54 Chr.16:2088868 - 2095128 on Build GRCh38 Loss PKD1 MIR1225 LOC105371049
esv2422427 Chr.16:10001 - 2723164 on Build GRCh38 Duplication NTN3 PDPK1 RHOT2 RPS2 MRPS34 LOC105371184 DNASE1L2 UBE2I AXIN1 MEIOB HAGHL CCDC154 LOC107987233 C16orf91 MIR3177 RAB11FIP3 METRN POLR3K SSTR5 LOC105371047 SOX8 MIR6859-4 MIR3178 TBL3 LUC7L MIR3180-5 LINC00235 SNORA10 FAM173A MIR5587 ARHGDIG UNKL BRICD5 HBQ1 TMEM204 CHTF18 C1QTNF8 LOC100134368 NPW NDUFB10 HBA1 CASKIN1 WASIR2 RAB40C SPSB3 EME2 TPSG1 LOC101929280 MIR4516 PKD1 MAPK8IP3 ERVK13-1 HN1L GFER NUBP2 NARFL LOC105371049 NHLRC4 RHBDF1 TMEM8A MLST8 CEMP1 MIR6767 HBM HAGH TPSD1 HS3ST6 ABCA17P MIR662 FBXL16 MIR1225 TELO2 LOC100287175 BAIAP3 LOC652276 RNF151 JMJD8 MRPL28 MIR6768 TSC2 WDR90 SNHG9 RPUSD1 PIGQ PTX4 ABCA3 RHBDL1 GNG13 SNORA64 LOC105371038 TPSAB1 AMDHD2 SNRNP25 SNORA78 CLCN7 SYNGR3 TPSB2 RNPS1 HBZ LOC107984876 TBC1D24 MIR6511B1 MIR4717 MCRIP2 PRSS29P IGFALS PRR35 CACNA1H ATP6V0C CAPN15 WFIKKN1 ZNF598 PRSS27 NTHL1 NPRL3 MSLN MSRB1 SNORD60 LINC00254 MIR940 ECI1 PDIA2 METTL26 IFT140 FAHD1 TRAF7 CRAMP1 E4F1 CCNF KCTD5 C16orf59 CCDC78 HBA2 DECR2 TSR3 SNHG19 FLJ42627 NME3 WDR24 MPG FAM234A LOC105371046 GNPTG SLC9A3R2 SSTR5-AS1 DDX11L10 LOC106660606 NOXO1 PRR25 LMF1-AS1 RAB26 LMF1 LOC105371045 MIR3677 RPL3L LOC729652 MIR3176 NME4 RGS11 RPL23AP5 STUB1 PGP
dgv4859n54 Chr.16:1971892 - 2264400 on Build GRCh38 Loss ECI1 CASKIN1 TRAF7 TSC2 E4F1 DNASE1L2 MIR4516 SNHG19 PKD1 GFER SYNGR3 RNPS1 LOC105371049 SLC9A3R2 MLST8 MIR6511B1 TBL3 MIR3180-5 NOXO1 BRICD5 RAB26 ZNF598 NTHL1 MIR1225 NPW SNORD60 PGP
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion NDUFB10 RNF151 SLC9A3R2 RPS2 MIR6511B1 TBL3 TSC2 SNORA10 SNHG9 HS3ST6 NOXO1 SNORA64 MIR4516 PKD1 SNORA78 ZNF598 GFER SYNGR3 NTHL1 RPL3L MIR1225 MSRB1 NPW LOC105371049
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion NDUFB10 RNF151 SLC9A3R2 RPS2 MIR6511B1 TBL3 TSC2 SNORA10 SNHG9 NOXO1 SNORA64 PKD1 SNORA78 ZNF598 GFER SYNGR3 NTHL1 MIR1225 NPW LOC105371049
dgv4861n54 Chr.16:2083900 - 2246850 on Build GRCh38 Loss ECI1 CASKIN1 MLST8 MIR6511B1 TRAF7 TSC2 MIR3180-5 E4F1 DNASE1L2 BRICD5 RAB26 MIR4516 SNHG19 PKD1 MIR1225 LOC105371049 SNORD60 PGP
nsv571190 Chr.16:2055054 - 2200730 on Build GRCh38 Loss RAB26 CASKIN1 MIR4516 MIR6511B1 SNHG19 PKD1 TRAF7 TSC2 MIR3180-5 MIR1225 LOC105371049 SNORD60
nsv1052260 Chr.16:2074546 - 2629655 on Build GRCh38 Gain MIR940 ECI1 LOC652276 NTN3 PDPK1 CASKIN1 MIR6768 TRAF7 TSC2 E4F1 CCNF DNASE1L2 C16orf59 ABCA3 MIR4516 SNHG19 PKD1 AMDHD2 RNPS1 LOC105371049 TBC1D24 MLST8 MIR3178 MIR6511B1 CEMP1 LOC106660606 MIR3180-5 MIR4717 MIR6767 ATP6V0C BRICD5 RAB26 ABCA17P MIR3677 MIR1225 LOC729652 SNORD60 PGP
nsv471381 Chr.16:2088710 - 2135898 on Build GRCh38 Gain MIR4516 MIR6511B1 PKD1 TSC2 MIR1225 LOC105371049

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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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