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

Chr.16:2090904 on build GRCh38
Cytoband
16p13.3
Assay ID Hs02105847_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 48 - Exon 48
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 BAIAP3 LOC100134368 SSTR5-AS1 ERVK13-1 MIR6768 SLC9A3R2 POLR3K PDPK1 FAM173A AXIN1 MIR3178 RPUSD1 MIR1225 MIR4717 LINC00235 LOC105371049 MRPL28 LOC101929280 STUB1 MIR940 LOC105371047 WASIR2 METRN SNHG19 TRAF7 LOC729652 ABCA3 CCDC78 EME2 HAGHL LOC105371184 LOC105371045 SPSB3 IGFALS MSLN WDR24 SNORD60 HS3ST6 MIR6511B1 LMF1-AS1 MIR3176 MRPS34 HBM TELO2 CAPN15 LUC7L MIR3180-5 CCDC154 WDR90 SNORA78 MIR4516 TSR3 CEMP1 SNORA64 HBA1 TSC2 MSRB1 GFER FAHD1 PDIA2 UBE2I RPS2 NTN3 RHBDL1 DDX11L10 RPL23AP5 FBXL16 C16orf91 NTHL1 FLJ42627 HAGH NARFL LOC105371046 C16orf59 TPSB2 NPW TBC1D24 MPG HBA2 AMDHD2 LINC00254 PRSS29P GNG13 SNORA10 HN1L SOX8 TMEM204 PGP PRR25 MLST8 LOC100287175 KCTD5 PIGQ TPSD1 LMF1 DECR2 TBL3 MIR3177 SNRNP25 MAPK8IP3 SYNGR3 PRSS27 RGS11 FAM234A RAB11FIP3 MEIOB RAB26 TPSAB1 NME4 LOC107984876 LOC105371038 ABCA17P CASKIN1 LOC652276 NUBP2 LOC106660606 JMJD8 PTX4 METTL26 RNPS1 DNASE1L2 ZNF598 GNPTG CHTF18 MCRIP2 SNHG9 NOXO1 HBZ CCNF RPL3L BRICD5 C1QTNF8 RHOT2 RAB40C UNKL HBQ1 LOC107987233 MIR6859-4 NME3 SSTR5 ECI1 TPSG1 MIR662 MIR3677 WFIKKN1 RHBDF1 E4F1 ARHGDIG CLCN7 IFT140 RNF151 CRAMP1 PKD1 TMEM8A NHLRC4 NDUFB10 PRR35 MIR6767 NPRL3 MIR5587 CACNA1H ATP6V0C
nsv471072 Chr.16:1971892 - 2317508 on Build GRCh38 Loss PGP SLC9A3R2 MLST8 NOXO1 MIR3180-5 BRICD5 MIR4516 MIR1225 TBL3 MIR4717 LOC105371049 MIR940 TSC2 ECI1 SYNGR3 GFER SNHG19 MIR3677 E4F1 TRAF7 ABCA3 RAB26 NTHL1 CASKIN1 PKD1 NPW LOC106660606 SNORD60 MIR6511B1 RNPS1 DNASE1L2 ZNF598
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion MSRB1 SYNGR3 GFER SLC9A3R2 RPS2 NTHL1 SNHG9 NOXO1 RNF151 PKD1 NPW RPL3L SNORA78 MIR4516 MIR1225 HS3ST6 TBL3 NDUFB10 LOC105371049 MIR6511B1 SNORA64 SNORA10 ZNF598 TSC2
dgv4861n54 Chr.16:2083900 - 2246850 on Build GRCh38 Loss ECI1 PGP MLST8 SNHG19 E4F1 TRAF7 RAB26 CASKIN1 MIR3180-5 PKD1 BRICD5 MIR4516 SNORD60 MIR1225 LOC105371049 MIR6511B1 DNASE1L2 TSC2
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion SYNGR3 GFER SLC9A3R2 RPS2 NTHL1 SNHG9 NOXO1 RNF151 PKD1 NPW SNORA78 MIR1225 TBL3 NDUFB10 LOC105371049 MIR6511B1 SNORA64 SNORA10 ZNF598 TSC2
nsv457349 Chr.16:2055054 - 2200730 on Build GRCh38 Loss CASKIN1 MIR3180-5 PKD1 MIR4516 SNHG19 SNORD60 MIR1225 TRAF7 LOC105371049 MIR6511B1 RAB26 TSC2
nsv482186 Chr.16:2088710 - 2135898 on Build GRCh38 Gain PKD1 MIR4516 MIR1225 LOC105371049 MIR6511B1 TSC2
nsv1052260 Chr.16:2074546 - 2629655 on Build GRCh38 Gain PGP MIR6768 MLST8 PDPK1 MIR3180-5 MIR3178 CCNF BRICD5 MIR4516 CEMP1 MIR1225 MIR4717 LOC105371049 MIR940 TSC2 ECI1 SNHG19 MIR3677 NTN3 E4F1 TRAF7 LOC729652 ABCA3 RAB26 ABCA17P CASKIN1 LOC652276 C16orf59 PKD1 TBC1D24 LOC106660606 AMDHD2 SNORD60 MIR6767 MIR6511B1 ATP6V0C RNPS1 DNASE1L2

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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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