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