Hs03919841_cn

• Gene Symbol: ATP6V0C
• Assay Reference Genome Location: Chr.16:2518534 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	C1QTNF8 WDR90 PDPK1 TMEM8A CRAMP1 FBXL16 MIR6768 GNG13 RAB40C C16orf59 METTL26 BAIAP3 SNORD60 TSC2 LOC107987233 BRICD5 CCNF MSRB1 TPSG1 HBQ1 FAM234A FAM173A SYNGR3 MAPK8IP3 MIR4717 MEIOB LOC101929280 SLC9A3R2 SNHG19 UBE2I MIR1225 MIR6511B1 CCDC78 RNF151 ERVK13-1 LINC00254 WDR24 KCTD5 CASKIN1 DNASE1L2 PDIA2 LINC00235 LMF1-AS1 ATP6V0C MIR3677 PIGQ LUC7L TMEM204 MSLN MIR3180-5 EME2 MRPS34 LOC729652 POLR3K MIR3178 TSR3 LOC105371184 TPSB2 IFT140 PTX4 RGS11 LOC100287175 DDX11L10 LOC106660606 LOC652276 RPL3L SNORA78 MIR6859-4 MPG MIR662 HN1L NDUFB10 HAGH WASIR2 PRR35 STUB1 NME3 HBM SSTR5-AS1 LOC105371047 NARFL MRPL28 LOC100134368 RHBDL1 DECR2 NHLRC4 LOC105371046 FAHD1 NOXO1 MLST8 LOC107984876 LOC105371049 AXIN1 CLCN7 NPRL3 HBA2 SSTR5 CCDC154 TRAF7 TPSAB1 PRSS27 WFIKKN1 HBZ TELO2 ECI1 PRR25 MIR4516 AMDHD2 PKD1 ZNF598 RAB26 TPSD1 HBA1 PRSS29P UNKL SNRNP25 E4F1 RPL23AP5 HAGHL NTN3 RAB11FIP3 LMF1 RHBDF1 NTHL1 MIR5587 PGP ABCA3 RHOT2 SOX8 SNORA64 LOC105371045 TBL3 GNPTG CAPN15 ARHGDIG MIR6767 SNHG9 FLJ42627 NPW TBC1D24 HS3ST6 MIR940 METRN IGFALS ABCA17P CEMP1 SPSB3 MCRIP2 RPUSD1 JMJD8 MIR3176 LOC105371038 SNORA10 GFER NME4 MIR3177 CHTF18 NUBP2 RPS2 C16orf91 RNPS1 CACNA1H
esv2760067	Chr.16:2486824 - 2820535 on Build GRCh38	Gain+Loss	SRRM2 TBC1D24 LOC652276 PDPK1 AMDHD2 CEMP1 PRSS41 ATP6V0C TCEB2 MIR3178 PRSS27 ERVK13-1 SRRM2-AS1 FLJ42627 PRSS33 KCTD5 PRSS21
nsv833122	Chr.16:2501717 - 2663937 on Build GRCh38	Loss	TBC1D24 LOC652276 PDPK1 MIR3178 AMDHD2 CEMP1 ERVK13-1 ATP6V0C FLJ42627
nsv1052260	Chr.16:2074546 - 2629655 on Build GRCh38	Gain	CASKIN1 PGP DNASE1L2 ABCA3 MLST8 PDPK1 MIR6768 LOC105371049 ATP6V0C MIR3677 C16orf59 SNORD60 MIR3180-5 MIR6767 LOC729652 TRAF7 MIR3178 TSC2 BRICD5 ECI1 CCNF LOC106660606 TBC1D24 LOC652276 MIR4516 MIR940 ABCA17P AMDHD2 CEMP1 PKD1 MIR4717 RAB26 SNHG19 E4F1 MIR1225 MIR6511B1 NTN3 RNPS1

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