Hs03945971_cn

• Gene Symbol: ATP6V0C
• Assay Reference Genome Location: Chr.16:2515978 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	DDX11L10 PRR35 SYNGR3 LOC106660606 HBQ1 EME2 NOXO1 ZNF598 TBL3 NPW MRPS34 DECR2 SNHG9 MIR5587 SNORA78 RNF151 LOC107984876 PRSS29P JMJD8 TPSG1 SNRNP25 TRAF7 CCNF GFER FAHD1 MIR1225 SNORA64 MSLN UNKL MIR4717 ABCA17P LOC100134368 CCDC78 LOC105371049 WASIR2 LMF1-AS1 RPUSD1 CACNA1H NHLRC4 MLST8 MIR6767 RPL23AP5 E4F1 ARHGDIG PTX4 RGS11 AXIN1 TPSB2 PKD1 HAGHL RAB11FIP3 DNASE1L2 PDPK1 MIR3677 TMEM204 HBZ SLC9A3R2 MPG LINC00235 MRPL28 TELO2 TSR3 C16orf91 NME3 C16orf59 ATP6V0C LOC105371045 LOC105371038 NDUFB10 SNORD60 RHBDL1 WDR90 MIR6511B1 MIR940 GNG13 TPSAB1 LOC729652 FAM173A LUC7L BAIAP3 NUBP2 HBM STUB1 TSC2 RAB40C MAPK8IP3 NTN3 CASKIN1 CCDC154 LOC101929280 RHBDF1 TPSD1 MSRB1 SOX8 SPSB3 PGP FBXL16 UBE2I RAB26 IFT140 SSTR5-AS1 BRICD5 PIGQ FLJ42627 LMF1 MIR3176 GNPTG RNPS1 MEIOB LOC107987233 MIR662 CLCN7 ABCA3 METTL26 KCTD5 LINC00254 MIR3180-5 CRAMP1 SNORA10 CAPN15 FAM234A LOC105371184 ERVK13-1 MIR3178 NME4 WFIKKN1 WDR24 PRSS27 PDIA2 CHTF18 HBA2 LOC105371046 MIR6859-4 MCRIP2 PRR25 HS3ST6 RPS2 RPL3L CEMP1 ECI1 AMDHD2 POLR3K SSTR5 TBC1D24 METRN MIR3177 NPRL3 MIR4516 NTHL1 RHOT2 LOC652276 HBA1 HAGH SNHG19 LOC105371047 C1QTNF8 IGFALS NARFL TMEM8A LOC100287175 MIR6768 HN1L
esv2760067	Chr.16:2486824 - 2820535 on Build GRCh38	Gain+Loss	MIR3178 PRSS21 ATP6V0C LOC652276 PRSS41 PRSS27 KCTD5 PDPK1 SRRM2-AS1 SRRM2 CEMP1 AMDHD2 PRSS33 TCEB2 TBC1D24 FLJ42627 ERVK13-1
nsv833122	Chr.16:2501717 - 2663937 on Build GRCh38	Loss	MIR3178 PDPK1 CEMP1 ATP6V0C AMDHD2 LOC652276 TBC1D24 FLJ42627 ERVK13-1
nsv1052260	Chr.16:2074546 - 2629655 on Build GRCh38	Gain	MIR3178 TSC2 MLST8 MIR6767 LOC106660606 E4F1 NTN3 CASKIN1 PKD1 DNASE1L2 PDPK1 MIR3677 PGP CEMP1 ECI1 AMDHD2 TBC1D24 RAB26 BRICD5 MIR4516 C16orf59 RNPS1 ATP6V0C LOC652276 TRAF7 CCNF SNORD60 MIR1225 SNHG19 ABCA3 MIR6511B1 MIR4717 ABCA17P MIR940 LOC729652 MIR3180-5 MIR6768 LOC105371049
nsv833121	Chr.16:2360975 - 2518228 on Build GRCh38	Loss	ABCA17P C16orf59 ATP6V0C MIR6767 LOC729652 CCNF TBC1D24 MIR6768 NTN3

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