Assay Details
Target Gene Details
Entrez Gene ID: | 527 |
Gene Name: | ATPase H+ transporting V0 subunit c |
Gene Aliases: |
ATP6C, ATP6L, ATPL, VATL, VPPC, Vma3 |
Location: |
Chr.16:2513726-2520223 on Build GRCh38 |
Assay Gene Location: | Overlaps - Exon 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ATP6V0C | NM_001198569.1 | NP_001185498.1 | ||
NM_001694.3 | NP_001685.1 | |||
BC004537.2 | AAH04537.1 | |||
BC007389.2 | AAH07389.1 | |||
BC007759.2 | AAH07759.1 | |||
BC009290.2 | AAH09290.1 | |||
M62762.1 | AAA60039.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2422427 | Chr.16:10001 - 2723164 on Build GRCh38 | Duplication | MIR6859-4 GNG13 PRSS29P WFIKKN1 UNKL RAB11FIP3 NARFL HBZ MIR4717 JMJD8 CEMP1 TSR3 PIGQ ABCA3 PDIA2 NHLRC4 ARHGDIG NUBP2 AXIN1 NME3 HBA2 DNASE1L2 FBXL16 TELO2 CCDC78 LOC101929280 LOC652276 SLC9A3R2 EME2 NOXO1 MPG RHBDL1 ABCA17P SNHG9 SNORA10 CCNF POLR3K MSLN NTHL1 MIR662 WASIR2 CAPN15 HS3ST6 NPW LOC105371047 TPSB2 LUC7L TBC1D24 NTN3 UBE2I PRR25 C16orf59 RPL3L TPSG1 MIR3677 TRAF7 RAB40C TPSD1 PRR35 FAM234A MSRB1 RPUSD1 SYNGR3 STUB1 LMF1-AS1 MIR3178 MEIOB ZNF598 METTL26 MIR940 NDUFB10 IGFALS LOC729652 SNORA64 TSC2 SNORA78 MIR3180-5 LINC00254 MLST8 TMEM204 FAM173A SNORD60 HBQ1 RPL23AP5 PGP RPS2 CLCN7 HN1L TMEM8A RNF151 BRICD5 MIR6511B1 CACNA1H LOC107984876 HAGHL HBM FLJ42627 MIR1225 HBA1 SNRNP25 SOX8 KCTD5 LMF1 MIR6768 SNHG19 FAHD1 LOC105371046 SSTR5 LOC106660606 C1QTNF8 IFT140 LOC100134368 LOC105371184 MIR3177 LOC107987233 MCRIP2 WDR90 CRAMP1 MAPK8IP3 LOC105371038 LINC00235 GNPTG SPSB3 BAIAP3 ATP6V0C MRPS34 DECR2 E4F1 LOC100287175 RHOT2 NME4 ECI1 TPSAB1 SSTR5-AS1 MIR4516 MIR3176 MIR5587 CCDC154 MRPL28 RHBDF1 C16orf91 PKD1 WDR24 HAGH PDPK1 DDX11L10 LOC105371049 MIR6767 ERVK13-1 RGS11 PRSS27 RNPS1 PTX4 METRN RAB26 AMDHD2 NPRL3 CASKIN1 GFER CHTF18 LOC105371045 TBL3 |
nsv1121904 | Chr.16:2519699 - 2520599 on Build GRCh38 | Deletion | AMDHD2 ATP6V0C |
esv2760067 | Chr.16:2486824 - 2820535 on Build GRCh38 | Gain+Loss | SRRM2-AS1 TBC1D24 LOC652276 MIR3178 FLJ42627 ERVK13-1 PRSS27 PRSS21 CEMP1 SRRM2 PRSS41 KCTD5 AMDHD2 ATP6V0C PRSS33 PDPK1 TCEB2 |
nsv833122 | Chr.16:2501717 - 2663937 on Build GRCh38 | Loss | TBC1D24 AMDHD2 LOC652276 MIR3178 FLJ42627 ERVK13-1 ATP6V0C PDPK1 CEMP1 |
nsv1052260 | Chr.16:2074546 - 2629655 on Build GRCh38 | Gain | BRICD5 MIR6511B1 TBC1D24 NTN3 ECI1 MIR1225 C16orf59 MIR3677 MIR4516 MIR4717 CEMP1 TRAF7 MIR6768 PKD1 SNHG19 ABCA3 PDPK1 DNASE1L2 LOC106660606 LOC652276 LOC105371049 MIR6767 MIR3178 MIR940 LOC729652 RNPS1 TSC2 MIR3180-5 MLST8 RAB26 ABCA17P CCNF AMDHD2 SNORD60 CASKIN1 PGP ATP6V0C E4F1 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |