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