Hs07401716_cn

• Gene Symbol: ATP6V0C
• Assay Reference Genome Location: Chr.16:2517111 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	RAB40C MIR3180-5 TPSAB1 HBQ1 NUBP2 NHLRC4 LUC7L TRAF7 MRPS34 BAIAP3 MIR4516 SNORA64 MIR3177 PRSS29P CEMP1 TMEM204 SSTR5-AS1 ECI1 MIR6859-4 ZNF598 HBM MIR4717 MIR940 MIR6768 LOC105371038 C16orf59 MPG LINC00235 LOC100134368 PDIA2 TBC1D24 BRICD5 DNASE1L2 MIR662 PGP CLCN7 SNRNP25 CCDC78 UBE2I SNORD60 LOC105371184 TPSD1 C16orf91 PKD1 RHOT2 ERVK13-1 MIR3677 LOC652276 PDPK1 E4F1 NARFL RNPS1 HBA2 ABCA3 LOC101929280 NPRL3 MRPL28 MSRB1 PIGQ TPSG1 RAB11FIP3 NME4 DDX11L10 GFER RPS2 STUB1 CRAMP1 RGS11 IGFALS MIR6767 RHBDF1 TBL3 LOC107987233 TSC2 SSTR5 LOC105371047 RHBDL1 PTX4 SLC9A3R2 LOC100287175 MLST8 TSR3 HS3ST6 SNORA78 WDR24 POLR3K HAGH RAB26 CAPN15 UNKL MAPK8IP3 METTL26 HBZ RPL23AP5 WASIR2 LOC105371049 HN1L CHTF18 NPW FLJ42627 TPSB2 MEIOB HBA1 TELO2 SPSB3 SYNGR3 LOC107984876 MIR6511B1 SOX8 AMDHD2 PRR35 NOXO1 FAHD1 METRN ATP6V0C GNG13 NME3 CASKIN1 HAGHL IFT140 RNF151 SNORA10 FAM173A CCNF ARHGDIG PRR25 LINC00254 FBXL16 CACNA1H RPL3L LOC106660606 MSLN WDR90 AXIN1 NTHL1 MIR5587 FAM234A PRSS27 WFIKKN1 EME2 NTN3 MIR3176 C1QTNF8 LMF1 JMJD8 SNHG9 ABCA17P MCRIP2 DECR2 KCTD5 RPUSD1 MIR3178 LOC105371046 MIR1225 LOC729652 SNHG19 CCDC154 TMEM8A NDUFB10 LOC105371045 GNPTG LMF1-AS1
esv2760067	Chr.16:2486824 - 2820535 on Build GRCh38	Gain+Loss	FLJ42627 AMDHD2 PRSS21 SRRM2 PRSS41 TBC1D24 ATP6V0C PRSS33 KCTD5 ERVK13-1 MIR3178 SRRM2-AS1 LOC652276 PDPK1 CEMP1 TCEB2 PRSS27
nsv833122	Chr.16:2501717 - 2663937 on Build GRCh38	Loss	FLJ42627 TBC1D24 ATP6V0C ERVK13-1 MIR3178 LOC652276 PDPK1 CEMP1 AMDHD2
nsv1052260	Chr.16:2074546 - 2629655 on Build GRCh38	Gain	MIR3180-5 MLST8 SNORD60 CCNF TRAF7 RAB26 MIR4516 PKD1 MIR3677 LOC106660606 LOC652276 PDPK1 CEMP1 LOC105371049 E4F1 ECI1 RNPS1 NTN3 ABCA3 MIR4717 MIR940 MIR6768 MIR6511B1 C16orf59 AMDHD2 ABCA17P TBC1D24 BRICD5 DNASE1L2 ATP6V0C MIR6767 MIR3178 MIR1225 LOC729652 SNHG19 PGP TSC2 CASKIN1
nsv833121	Chr.16:2360975 - 2518228 on Build GRCh38	Loss	TBC1D24 NTN3 ATP6V0C MIR6767 LOC729652 MIR6768 CCNF C16orf59 ABCA17P

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