Hs07401404_cn

• Gene Symbol: ATP6V0C
• Assay Reference Genome Location: Chr.16:2516987 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	HS3ST6 TMEM8A LOC652276 ATP6V0C SNHG9 MIR6511B1 CACNA1H LMF1 MIR3178 LOC107987233 C1QTNF8 UNKL TRAF7 WFIKKN1 FBXL16 PRSS29P HBA1 RHBDL1 DNASE1L2 MIR3180-5 MPG MRPS34 DECR2 MIR6768 STUB1 ZNF598 PRSS27 TPSAB1 LOC105371184 CCDC78 EME2 TSC2 RAB40C RPL3L FAM173A CAPN15 LOC100134368 PDIA2 MIR5587 RAB26 E4F1 FAM234A CASKIN1 HBA2 FAHD1 GNPTG GFER MAPK8IP3 HBZ RGS11 NUBP2 SSTR5 LOC100287175 PGP PDPK1 SYNGR3 LOC107984876 LINC00254 MCRIP2 TELO2 MEIOB POLR3K TBL3 NHLRC4 MIR4717 NARFL MIR3176 RPL23AP5 CCDC154 SSTR5-AS1 AMDHD2 LOC101929280 ECI1 LOC105371046 PRR35 HBM LOC105371049 ABCA17P RHBDF1 NTN3 ERVK13-1 TBC1D24 TSR3 NPRL3 TMEM204 MIR6859-4 LOC106660606 SNORD60 CCNF WASIR2 MSRB1 RNF151 WDR90 SOX8 RPUSD1 SNRNP25 ARHGDIG RNPS1 MIR4516 HAGH LOC105371047 MLST8 NTHL1 AXIN1 TPSD1 LMF1-AS1 SNORA64 IFT140 METTL26 MIR940 PRR25 NDUFB10 MIR6767 METRN PKD1 NOXO1 MIR3177 ABCA3 MIR1225 SNORA10 SLC9A3R2 HN1L HAGHL NME4 RAB11FIP3 TPSG1 MSLN MIR3677 FLJ42627 SNORA78 CRAMP1 LOC729652 LUC7L BAIAP3 DDX11L10 PIGQ LINC00235 LOC105371038 NPW CLCN7 SPSB3 CHTF18 MRPL28 UBE2I KCTD5 IGFALS GNG13 NME3 HBQ1 C16orf91 TPSB2 MIR662 RHOT2 CEMP1 PTX4 WDR24 SNHG19 LOC105371045 C16orf59 RPS2 JMJD8 BRICD5
esv2760067	Chr.16:2486824 - 2820535 on Build GRCh38	Gain+Loss	PRSS27 PRSS41 LOC652276 AMDHD2 ATP6V0C KCTD5 TCEB2 PDPK1 SRRM2-AS1 PRSS33 MIR3178 SRRM2 CEMP1 FLJ42627 ERVK13-1 TBC1D24 PRSS21
nsv833122	Chr.16:2501717 - 2663937 on Build GRCh38	Loss	CEMP1 LOC652276 FLJ42627 AMDHD2 ATP6V0C ERVK13-1 TBC1D24 PDPK1 MIR3178
nsv1052260	Chr.16:2074546 - 2629655 on Build GRCh38	Gain	LOC106660606 LOC652276 SNORD60 CCNF ATP6V0C PGP MIR6511B1 PDPK1 MIR3178 RNPS1 MIR4516 TRAF7 MIR3677 MLST8 DNASE1L2 MIR3180-5 LOC729652 MIR6768 MIR4717 AMDHD2 TSC2 ECI1 MIR940 LOC105371049 ABCA17P NTN3 MIR6767 PKD1 CEMP1 RAB26 E4F1 ABCA3 CASKIN1 SNHG19 TBC1D24 MIR1225 C16orf59 BRICD5
nsv833121	Chr.16:2360975 - 2518228 on Build GRCh38	Loss	CCNF ATP6V0C TBC1D24 LOC729652 C16orf59 ABCA17P NTN3 MIR6768 MIR6767

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