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