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: | Within Exon 41 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PKD1 | NM_000296.3 | 36 | 10869 | NP_000287.3 |
NM_001009944.2 | 36 | 10872 | NP_001009944.2 | |
XM_005255370.3 | 26 | 8459 | XP_005255427.1 | |
XM_011522528.2 | 37 | 10897 | XP_011520830.1 | |
XM_011522529.2 | 37 | 10895 | XP_011520831.1 | |
XM_011522530.2 | 37 | 10702 | XP_011520832.1 | |
XM_011522532.2 | 36 | 10630 | XP_011520834.1 | |
XM_011522534.2 | 37 | 10687 | XP_011520836.1 | |
XM_011522535.2 | 28 | 8919 | XP_011520837.1 | |
XM_011522537.2 | 26 | 7830 | XP_011520839.1 | |
XM_017023285.1 | 27 | 8474 | XP_016878774.1 | |
AB209025.1 | 23 | 5226 | BAD92262.1 | |
AB209675.1 | 22 | 6178 | BAD92912.1 | |
L33243.1 | 36 | 10871 | AAC37576.1 | |
U24497.1 | 36 | 10798 | 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 MIR1225 PKD1 |
esv2422427 | Chr.16:10001 - 2723164 on Build GRCh38 | Duplication | WDR24 MRPS34 NUBP2 GNG13 TMEM8A SOX8 SNORA64 MIR6767 SLC9A3R2 UBE2I RAB11FIP3 C1QTNF8 TELO2 LOC101929280 NDUFB10 PRR35 RHOT2 LMF1 MSRB1 PKD1 NTN3 METRN TPSB2 LINC00235 NPW HBA1 MIR3178 LOC105371047 HAGH MIR6859-4 NTHL1 LOC100134368 DDX11L10 NME3 NARFL CCNF ERVK13-1 IFT140 MIR662 RGS11 MPG SSTR5 BAIAP3 SNORD60 HN1L MIR6768 LUC7L C16orf91 ABCA3 LOC105371045 NOXO1 JMJD8 DECR2 RHBDF1 MIR3180-5 PRSS27 HBQ1 ARHGDIG ABCA17P MIR4717 LINC00254 LOC105371184 LOC107984876 LOC105371046 GFER SNHG9 TBC1D24 FAM173A KCTD5 RNF151 LOC652276 SNORA10 GNPTG SNRNP25 PRSS29P ECI1 LOC729652 E4F1 CASKIN1 RAB26 IGFALS TPSG1 SSTR5-AS1 MIR3177 NME4 LMF1-AS1 LOC100287175 RPL3L MIR940 RHBDL1 ATP6V0C SNHG19 FLJ42627 MIR1225 MIR3677 SPSB3 HBM TSC2 RNPS1 CAPN15 HBA2 WFIKKN1 TRAF7 TMEM204 WASIR2 SNORA78 CACNA1H NHLRC4 PGP PDIA2 MEIOB NPRL3 RPS2 UNKL MAPK8IP3 STUB1 CHTF18 FAM234A RPL23AP5 PDPK1 MIR6511B1 HS3ST6 LOC106660606 PIGQ POLR3K METTL26 MSLN CCDC154 TSR3 RPUSD1 LOC107987233 CLCN7 CCDC78 TPSD1 AMDHD2 FBXL16 SYNGR3 HBZ MIR4516 EME2 PRR25 DNASE1L2 MIR3176 TPSAB1 HAGHL WDR90 LOC105371038 TBL3 FAHD1 BRICD5 CRAMP1 C16orf59 MRPL28 MCRIP2 RAB40C PTX4 CEMP1 LOC105371049 ZNF598 AXIN1 MIR5587 MLST8 |
nsv471072 | Chr.16:1971892 - 2317508 on Build GRCh38 | Loss | MIR6511B1 LOC106660606 ABCA3 SLC9A3R2 NOXO1 MIR940 SNHG19 MIR1225 PKD1 MIR3677 SYNGR3 TSC2 MIR3180-5 MIR4516 NPW MIR4717 DNASE1L2 RNPS1 NTHL1 TRAF7 TBL3 GFER PGP BRICD5 LOC105371049 ZNF598 ECI1 E4F1 CASKIN1 RAB26 MLST8 SNORD60 |
nsv952901 | Chr.16:1888800 - 2135899 on Build GRCh38 | Deletion | MIR6511B1 HS3ST6 NTHL1 SNORA78 TBL3 GFER SNHG9 SNORA64 RNF151 SLC9A3R2 NOXO1 RPL3L RPS2 SNORA10 LOC105371049 NDUFB10 MSRB1 ZNF598 MIR1225 PKD1 SYNGR3 TSC2 MIR4516 NPW |
dgv4861n54 | Chr.16:2083900 - 2246850 on Build GRCh38 | Loss | MIR6511B1 TRAF7 PGP BRICD5 LOC105371049 SNHG19 MIR1225 PKD1 ECI1 E4F1 CASKIN1 TSC2 MIR3180-5 RAB26 MIR4516 MLST8 SNORD60 DNASE1L2 |
nsv1160329 | Chr.16:1961727 - 2128574 on Build GRCh38 | Deletion | MIR6511B1 NTHL1 SNORA78 TBL3 GFER SNHG9 SNORA64 RNF151 SLC9A3R2 NOXO1 RPS2 SNORA10 LOC105371049 NDUFB10 ZNF598 MIR1225 PKD1 SYNGR3 TSC2 NPW |
nsv457349 | Chr.16:2055054 - 2200730 on Build GRCh38 | Loss | MIR6511B1 LOC105371049 SNHG19 TRAF7 MIR1225 PKD1 CASKIN1 TSC2 MIR3180-5 RAB26 MIR4516 SNORD60 |
nsv482186 | Chr.16:2088710 - 2135898 on Build GRCh38 | Gain | MIR6511B1 LOC105371049 MIR1225 PKD1 TSC2 MIR4516 |
nsv1052260 | Chr.16:2074546 - 2629655 on Build GRCh38 | Gain | MIR6511B1 MIR6768 LOC106660606 ABCA3 MIR6767 MIR940 ATP6V0C SNHG19 MIR1225 PKD1 NTN3 MIR3677 AMDHD2 TSC2 MIR3180-5 MIR4516 ABCA17P MIR4717 MIR3178 DNASE1L2 RNPS1 TRAF7 TBC1D24 PGP BRICD5 C16orf59 CCNF LOC652276 CEMP1 LOC105371049 ECI1 LOC729652 E4F1 CASKIN1 RAB26 MLST8 SNORD60 PDPK1 |
esv26918 | Chr.16:2091142 - 2123135 on Build GRCh38 | Gain+Loss | MIR6511B1 LOC105371049 PKD1 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |