Hs04118481_cn

• Gene Symbol: G6PD
• Assay Reference Genome Location: Chr.X:154532890 on build GRCh38
• Cytoband: Xq28

Target Gene Details

• Entrez Gene ID: 2539
• Gene Name: glucose-6-phosphate dehydrogenase
• Gene Aliases: G6PD1
• Location: Chr.X:154531390-154547586 on Build GRCh38
• Assay Gene Location: Within Intron 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
G6PD	NM_000402.4			NP_000393.4
	NM_001042351.2			NP_001035810.1
	AK292304.1
	AK302341.1
	BC000337.2			AAH00337.1
	M21248.1			AAA52500.1
	X03674.1			CAA27309.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv33784	Chr.X:153962665 - 155699588 on Build GRCh38	Gain+Loss	MIR1184-2 SLC10A3 LOC105373386 H2AFB1 FAM50A OPN1MW3 HCFC1 MTCP1 FAM3A TMLHE GAB3 LOC101927830 MIR718 MIR3202-1 TMLHE-AS1 LOC107987332 SNORA36A H2AFB3 MIR6858 OPN1MW2 MIR1184-3 MIR664B IRAK1 DNASE1L1 IKBKG VBP1 F8A1 FAM223A GDI1 RAB39B CLIC2 RPL10 PLXNA3 MECP2 OPN1LW UBL4A BRCC3 F8A3 FLNA F8A2 SNORA56 CMC4 H2AFB2 F8 SMIM9 MIR3202-2 CTAG1A CTAG2 DKC1 TAZ ATP6AP1 CTAG1B CH17-340M24.3 FUNDC2 SNORA70 EMD G6PD FAM223B MIR1184-1 OPN1MW TMEM187 LAGE3 TEX28 HCFC1-AS1 TKTL1 SPRY3 MPP1
nsv519042	Chr.X:154082978 - 154601444 on Build GRCh38	Gain	SLC10A3 LOC105373386 FAM50A OPN1MW3 FAM3A CTAG1A TAZ ATP6AP1 CH17-340M24.3 LOC107987332 SNORA70 MIR6858 OPN1MW2 EMD G6PD OPN1MW LAGE3 TEX28 DNASE1L1 IKBKG FAM223A GDI1 RPL10 PLXNA3 MECP2 OPN1LW TKTL1 UBL4A FLNA
esv33199	Chr.X:153065734 - 154591978 on Build GRCh38	Gain+Loss	SLC10A3 L1CAM BCAP31 LOC105373381 LOC105373386 RENBP FAM50A OPN1MW3 HCFC1 MAGEA1 FAM3A PLXNB3 BGN AVPR2 TREX2 MIR718 MIR3202-1 LOC105373383 LOC107987332 LOC105373378 MIR6858 OPN1MW2 IRAK1 NAA10 DNASE1L1 IKBKG PNMA6A DUSP9 FAM223A GDI1 PNCK ZFP92 RPL10 PLXNA3 MECP2 OPN1LW UBL4A HAUS7 FLNA IDH3G PDZD4 MIR3202-2 ABCD1 CTAG1A LOC105373377 TAZ LOC107983954 ATP6AP1 CH17-340M24.3 ARHGAP4 ATP2B3 SNORA70 EMD G6PD OPN1MW FAM58A LCA10 TMEM187 SLC6A8 LAGE3 TEX28 SSR4 ZNF275 SRPK3 HCFC1-AS1 TKTL1
nsv508816	Chr.X:154492171 - 154591783 on Build GRCh38	Insertion	IKBKG G6PD FAM3A CTAG1A FAM223A

More Information

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

Panther Classification:

Molecular Function -

dehydrogenase

Gene Ontology Categories:

Process(es)

glucose metabolic process
pentose-phosphate shunt
lipid metabolic process
cholesterol biosynthetic process
NADP metabolic process
NADPH regeneration
glutathione metabolic process
pentose-phosphate shunt, oxidative branch
negative regulation of protein glutathionylation
response to organic cyclic compound
pentose biosynthetic process
substantia nigra development
response to food
cellular response to oxidative stress
erythrocyte maturation
regulation of neuron apoptotic process
response to ethanol
ribose phosphate biosynthetic process
glucose 6-phosphate metabolic process
oxidation-reduction process

Function(s)

glucose-6-phosphate dehydrogenase activity
protein binding
glucose binding
identical protein binding
protein homodimerization activity
NADP binding