Hs07401361_cn

• Gene Symbol: ATP6V0C
• Assay Reference Genome Location: Chr.16:2517280 on build GRCh38
• Cytoband: 16p13.3

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

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

ATP synthase

Gene Ontology Categories:

Process(es)

lysosomal lumen acidification
insulin receptor signaling pathway
ATP hydrolysis coupled proton transport
proton transport
viral process
regulation of macroautophagy
positive regulation of Wnt signaling pathway
transferrin transport
ion transmembrane transport
phagosome acidification

Function(s)

protein binding
ubiquitin protein ligase binding
proton-transporting ATP synthase activity, rotational mechanism
proton-transporting ATPase activity, rotational mechanism