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

Chr.16:2093131 on build GRCh38
Cytoband
16p13.3
Assay ID Hs04457883_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 2
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 42 - Exon 43
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 LOC105371049 PKD1 MIR1225
esv2422427 Chr.16:10001 - 2723164 on Build GRCh38 Duplication TMEM8A TPSB2 C1QTNF8 FAM173A PIGQ C16orf59 TELO2 HS3ST6 SOX8 RNF151 LOC105371038 MIR662 SYNGR3 SNORA10 LOC105371184 RAB26 RPUSD1 TRAF7 HBM ARHGDIG CCDC78 LOC729652 FBXL16 LUC7L NARFL MEIOB LMF1-AS1 TBC1D24 NPRL3 SLC9A3R2 PRSS29P ATP6V0C MIR6767 AXIN1 LOC652276 ABCA17P PKD1 HBQ1 NTHL1 HAGH CCDC154 LOC100287175 POLR3K MIR3176 WFIKKN1 WASIR2 SSTR5-AS1 MSRB1 SNHG9 STUB1 TPSAB1 ABCA3 MSLN MIR3177 GNPTG IFT140 MIR3677 PRSS27 UNKL RNPS1 LOC105371045 ZNF598 RPS2 LOC105371047 RHOT2 MAPK8IP3 METTL26 FAHD1 EME2 CAPN15 LOC100134368 NPW MPG MIR4516 PTX4 TSR3 SNORD60 MIR3178 SNRNP25 LOC101929280 HBA1 PRR35 DNASE1L2 AMDHD2 ECI1 MIR6768 MIR5587 TSC2 LOC107984876 MIR4717 TMEM204 LINC00254 RAB11FIP3 HN1L HBZ ERVK13-1 JMJD8 E4F1 CASKIN1 LOC106660606 RAB40C MIR6859-4 CEMP1 CACNA1H DECR2 MRPL28 RHBDF1 UBE2I NTN3 BAIAP3 TPSG1 NUBP2 SNORA78 METRN PRR25 PDIA2 KCTD5 NDUFB10 PDPK1 WDR24 CRAMP1 PGP RHBDL1 GFER NME4 LOC107987233 RPL23AP5 SNHG19 HBA2 MIR940 NHLRC4 MIR3180-5 LMF1 SPSB3 LOC105371046 TBL3 FLJ42627 RPL3L FAM234A WDR90 DDX11L10 LOC105371049 HAGHL GNG13 TPSD1 MLST8 RGS11 LINC00235 NME3 SSTR5 C16orf91 IGFALS MIR1225 MCRIP2 MRPS34 SNORA64 CHTF18 MIR6511B1 BRICD5 CCNF CLCN7 NOXO1
nsv471072 Chr.16:1971892 - 2317508 on Build GRCh38 Loss MIR4717 SNHG19 MIR940 ABCA3 MIR3180-5 SYNGR3 E4F1 CASKIN1 RAB26 LOC106660606 MIR3677 TBL3 TRAF7 RNPS1 ZNF598 LOC105371049 MLST8 NPW SLC9A3R2 MIR4516 MIR1225 SNORD60 PKD1 NTHL1 MIR6511B1 BRICD5 DNASE1L2 PGP GFER ECI1 NOXO1 TSC2
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion LOC105371049 MSRB1 SNHG9 HS3ST6 RNF151 NPW SLC9A3R2 SNORA78 MIR4516 SYNGR3 MIR1225 SNORA10 NDUFB10 PKD1 TBL3 SNORA64 NTHL1 MIR6511B1 ZNF598 RPL3L GFER NOXO1 RPS2 TSC2
dgv4861n54 Chr.16:2083900 - 2246850 on Build GRCh38 Loss LOC105371049 MLST8 SNHG19 MIR4516 MIR3180-5 MIR1225 SNORD60 E4F1 CASKIN1 PKD1 RAB26 TRAF7 MIR6511B1 BRICD5 DNASE1L2 PGP ECI1 TSC2
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion LOC105371049 SNHG9 RNF151 NPW SLC9A3R2 SNORA78 SYNGR3 MIR1225 SNORA10 NDUFB10 PKD1 TBL3 SNORA64 NTHL1 MIR6511B1 ZNF598 GFER NOXO1 RPS2 TSC2
nsv457349 Chr.16:2055054 - 2200730 on Build GRCh38 Loss LOC105371049 CASKIN1 PKD1 RAB26 SNHG19 TRAF7 MIR6511B1 MIR4516 MIR3180-5 MIR1225 SNORD60 TSC2
nsv482186 Chr.16:2088710 - 2135898 on Build GRCh38 Gain LOC105371049 PKD1 MIR6511B1 MIR4516 MIR1225 TSC2
nsv1052260 Chr.16:2074546 - 2629655 on Build GRCh38 Gain MIR4717 C16orf59 SNHG19 MIR940 ABCA3 MIR3180-5 E4F1 CASKIN1 RAB26 LOC106660606 MIR3677 TRAF7 RNPS1 CEMP1 LOC729652 LOC105371049 MLST8 NTN3 TBC1D24 MIR4516 ATP6V0C MIR6767 MIR1225 SNORD60 LOC652276 ABCA17P PKD1 MIR3178 PDPK1 MIR6511B1 BRICD5 CCNF DNASE1L2 PGP AMDHD2 ECI1 MIR6768 TSC2
esv26918 Chr.16:2091142 - 2123135 on Build GRCh38 Gain+Loss LOC105371049 PKD1 MIR6511B1

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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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