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

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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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