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