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