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