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See other LOC105371049 CNV Assays ›
Gene Symbol
LOC105371049
Assay Reference Genome
Location

Chr.16:2092550 on build GRCh38
Cytoband
16p13.3
Assay ID Hs00938420_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 105371049

Gene Name:

 uncharacterized LOC105371049

Gene Aliases:

 -

Location:

 Chr.16:2091436-2095017 on Build GRCh38

Assay Gene Location:

 Within Intron 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
LOC105371049 NR_135175.1
BM824397.1

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 43 - Exon 44
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
dgv4862n54 Chr.16:2088868 - 2095128 on Build GRCh38 Loss MIR1225 LOC105371049 PKD1
esv2422427 Chr.16:10001 - 2723164 on Build GRCh38 Duplication CCDC154 FAM173A CASKIN1 ATP6V0C LOC105371049 HBA1 MIR4717 RHOT2 CLCN7 SNRNP25 MIR6511B1 RNPS1 PIGQ ABCA3 LOC100287175 GNG13 LOC105371045 RGS11 CACNA1H NPRL3 PRSS27 CRAMP1 FAHD1 NUBP2 TPSAB1 PDIA2 E4F1 NME4 METTL26 LOC105371046 TMEM204 LOC105371047 ERVK13-1 PKD1 WASIR2 MSRB1 TPSD1 PDPK1 NARFL TPSG1 DNASE1L2 MIR6767 RPUSD1 SNORD60 TELO2 TBL3 MSLN MIR3178 CEMP1 TPSB2 MLST8 RHBDL1 SNHG9 WFIKKN1 LOC107984876 SLC9A3R2 ECI1 HBM HAGH JMJD8 LOC106660606 TSC2 WDR90 PTX4 CAPN15 MIR4516 LOC101929280 NOXO1 LOC107987233 MIR1225 WDR24 RHBDF1 UBE2I LOC100134368 NME3 MIR6768 HN1L HAGHL SNORA78 ABCA17P RNF151 SNHG19 CCDC78 MIR3177 MAPK8IP3 LOC105371184 LOC729652 AMDHD2 ARHGDIG HBA2 IFT140 SSTR5 LUC7L PRSS29P RAB40C MIR5587 MCRIP2 RPL23AP5 MIR3176 SSTR5-AS1 LINC00254 FAM234A MRPS34 KCTD5 AXIN1 SNORA10 STUB1 METRN MEIOB EME2 GFER IGFALS NDUFB10 MIR3180-5 LMF1-AS1 RAB26 ZNF598 RPL3L SPSB3 NPW UNKL HS3ST6 HBQ1 MIR3677 SOX8 POLR3K MRPL28 TMEM8A PRR35 C1QTNF8 LINC00235 NTN3 PGP TSR3 PRR25 LMF1 NTHL1 CHTF18 LOC652276 MPG MIR6859-4 BAIAP3 MIR940 C16orf59 DECR2 HBZ SYNGR3 FLJ42627 NHLRC4 GNPTG MIR662 FBXL16 TRAF7 BRICD5 C16orf91 RAB11FIP3 TBC1D24 DDX11L10 RPS2 LOC105371038 SNORA64 CCNF
nsv471072 Chr.16:1971892 - 2317508 on Build GRCh38 Loss CASKIN1 NPW LOC105371049 MIR4717 MIR3677 MIR6511B1 PGP SLC9A3R2 ECI1 RNPS1 ABCA3 LOC106660606 TSC2 NTHL1 MIR4516 NOXO1 MIR940 MIR1225 SYNGR3 E4F1 GFER PKD1 DNASE1L2 TRAF7 BRICD5 SNHG19 MIR3180-5 SNORD60 TBL3 RAB26 ZNF598 MLST8
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion RPL3L MIR1225 SNORA10 NPW LOC105371049 SNHG9 HS3ST6 SYNGR3 MIR6511B1 GFER PKD1 MSRB1 NDUFB10 SNORA78 RNF151 SLC9A3R2 TSC2 NTHL1 MIR4516 TBL3 NOXO1 RPS2 ZNF598 SNORA64
dgv4861n54 Chr.16:2083900 - 2246850 on Build GRCh38 Loss MIR1225 CASKIN1 LOC105371049 E4F1 MIR6511B1 PKD1 DNASE1L2 TRAF7 PGP BRICD5 ECI1 SNHG19 MIR3180-5 TSC2 SNORD60 MIR4516 RAB26 MLST8
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion MIR1225 SNORA10 NPW LOC105371049 SNHG9 SYNGR3 MIR6511B1 GFER PKD1 NDUFB10 SNORA78 RNF151 SLC9A3R2 TSC2 NTHL1 TBL3 NOXO1 RPS2 ZNF598 SNORA64
nsv457349 Chr.16:2055054 - 2200730 on Build GRCh38 Loss TRAF7 MIR1225 CASKIN1 LOC105371049 SNHG19 MIR3180-5 TSC2 SNORD60 MIR4516 MIR6511B1 RAB26 PKD1
nsv482186 Chr.16:2088710 - 2135898 on Build GRCh38 Gain MIR1225 LOC105371049 TSC2 MIR4516 MIR6511B1 PKD1
nsv1052260 Chr.16:2074546 - 2629655 on Build GRCh38 Gain CASKIN1 ATP6V0C LOC105371049 MIR4717 MIR3677 MIR6511B1 NTN3 PGP ECI1 RNPS1 ABCA3 LOC106660606 TSC2 LOC652276 MIR4516 MIR940 C16orf59 MIR1225 E4F1 PKD1 MIR6768 PDPK1 DNASE1L2 ABCA17P TRAF7 BRICD5 MIR6767 SNHG19 MIR3180-5 SNORD60 LOC729652 TBC1D24 AMDHD2 RAB26 MIR3178 CEMP1 MLST8 CCNF
esv26918 Chr.16:2091142 - 2123135 on Build GRCh38 Gain+Loss LOC105371049 MIR6511B1 PKD1

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More Information


Set Membership:

 Intragenic Intronic Non-exonic DGV Variation

Panther Classification:

Molecular Function -

ion channel

Gene Ontology Categories:

Function(s) Process(es)


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