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: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ATP6V0C | NM_001198569.1 | NP_001185498.1 | ||
NM_001694.3 | NP_001685.1 | |||
AW161158.1 | ||||
BC004537.2 | AAH04537.1 | |||
BC007389.2 | AAH07389.1 | |||
BC007759.2 | AAH07759.1 | |||
BC009290.2 | AAH09290.1 | |||
BI548787.1 | ||||
BT007155.1 | AAP35819.1 | |||
CR541930.1 | CAG46728.1 | |||
CR541951.1 | CAG46749.1 | |||
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 | C1QTNF8 MIR940 RNF151 PIGQ LOC105371047 SNORD60 SSTR5-AS1 MIR6511B1 METTL26 LMF1 MCRIP2 PGP TPSD1 LOC652276 TPSB2 HAGH TELO2 TRAF7 TMEM204 NOXO1 DECR2 LOC105371049 NPW RPL23AP5 SNORA64 SSTR5 CASKIN1 LOC101929280 TBL3 MPG WFIKKN1 GFER ZNF598 LOC106660606 LINC00235 CHTF18 RAB26 SNRNP25 METRN SNORA78 FAHD1 MAPK8IP3 DDX11L10 WDR24 CACNA1H HBM LOC105371184 HBQ1 CAPN15 NUBP2 SPSB3 TPSAB1 PKD1 ATP6V0C MSLN FBXL16 LOC105371046 RHOT2 TPSG1 C16orf59 CLCN7 LOC100134368 LOC107987233 NME3 MIR4717 MRPL28 LINC00254 MIR3177 RGS11 FAM234A HBZ HBA1 BAIAP3 CCDC154 AMDHD2 JMJD8 MEIOB POLR3K CRAMP1 RPUSD1 MIR662 MIR3178 SYNGR3 PDPK1 MIR3677 FLJ42627 ECI1 LMF1-AS1 MIR1225 PRR35 NDUFB10 NTHL1 TSR3 RHBDF1 MSRB1 UBE2I PRR25 NARFL IGFALS GNG13 MIR5587 RHBDL1 SLC9A3R2 MRPS34 CCDC78 RAB11FIP3 LOC107984876 MIR6767 TMEM8A DNASE1L2 IFT140 LOC105371045 STUB1 LOC729652 SNHG19 E4F1 NHLRC4 PRSS27 RPL3L RNPS1 TSC2 MIR3176 NTN3 UNKL LOC100287175 SNORA10 HS3ST6 C16orf91 RPS2 NME4 TBC1D24 SOX8 HAGHL ARHGDIG ABCA3 LOC105371038 SNHG9 WDR90 CEMP1 NPRL3 WASIR2 EME2 AXIN1 MIR3180-5 CCNF FAM173A PRSS29P PTX4 MIR6859-4 BRICD5 ERVK13-1 GNPTG HN1L MLST8 RAB40C MIR6768 LUC7L KCTD5 MIR4516 ABCA17P PDIA2 HBA2 |
esv2760067 | Chr.16:2486824 - 2820535 on Build GRCh38 | Gain+Loss | PDPK1 CEMP1 FLJ42627 PRSS27 PRSS21 PRSS33 ERVK13-1 ATP6V0C SRRM2-AS1 KCTD5 SRRM2 AMDHD2 TBC1D24 LOC652276 TCEB2 PRSS41 MIR3178 |
nsv833122 | Chr.16:2501717 - 2663937 on Build GRCh38 | Loss | PDPK1 CEMP1 FLJ42627 AMDHD2 TBC1D24 LOC652276 ERVK13-1 ATP6V0C MIR3178 |
nsv1052260 | Chr.16:2074546 - 2629655 on Build GRCh38 | Gain | PDPK1 E4F1 MIR3677 ECI1 MIR1225 RNPS1 MIR940 SNORD60 TSC2 PKD1 MIR6511B1 NTN3 ATP6V0C PGP TBC1D24 LOC652276 C16orf59 ABCA3 TRAF7 CEMP1 LOC105371049 MIR4717 MIR3180-5 CASKIN1 CCNF BRICD5 MLST8 MIR6768 LOC106660606 RAB26 MIR6767 AMDHD2 DNASE1L2 MIR4516 ABCA17P LOC729652 SNHG19 MIR3178 |
nsv833121 | Chr.16:2360975 - 2518228 on Build GRCh38 | Loss | MIR6768 MIR6767 TBC1D24 CCNF C16orf59 ABCA17P LOC729652 NTN3 ATP6V0C |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |