Hs04511033_cn

• Gene Symbol: G6PD
• Assay Reference Genome Location: Chr.X:154533868 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 8

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
	AL560686.3
	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	HCFC1-AS1 TMEM187 MIR3202-1 EMD RPL10 OPN1MW3 GDI1 CLIC2 MTCP1 CTAG2 PLXNA3 DNASE1L1 BRCC3 SMIM9 TEX28 TMLHE-AS1 SNORA56 MIR718 MPP1 LOC107987332 MIR6858 DKC1 LAGE3 FAM3A MIR1184-3 ATP6AP1 FUNDC2 GAB3 SPRY3 RAB39B LOC101927830 MIR1184-1 OPN1LW CH17-340M24.3 G6PD F8 TMLHE LOC105373386 SNORA70 MIR3202-2 CTAG1A H2AFB3 OPN1MW FAM223A FAM50A H2AFB2 H2AFB1 SLC10A3 F8A2 HCFC1 IRAK1 VBP1 F8A1 OPN1MW2 F8A3 CMC4 IKBKG MIR1184-2 SNORA36A MECP2 TKTL1 FAM223B MIR664B CTAG1B TAZ FLNA UBL4A
nsv519042	Chr.X:154082978 - 154601444 on Build GRCh38	Gain	LOC105373386 SNORA70 EMD RPL10 OPN1MW3 GDI1 PLXNA3 DNASE1L1 CTAG1A OPN1MW FAM223A TEX28 FAM50A SLC10A3 LOC107987332 MIR6858 OPN1MW2 IKBKG LAGE3 FAM3A ATP6AP1 MECP2 OPN1LW TKTL1 CH17-340M24.3 G6PD TAZ FLNA UBL4A
esv33199	Chr.X:153065734 - 154591978 on Build GRCh38	Gain+Loss	ZFP92 HCFC1-AS1 TMEM187 MIR3202-1 EMD RPL10 OPN1MW3 GDI1 PLXNA3 DNASE1L1 NAA10 TEX28 BGN MIR718 LOC105373383 TREX2 SLC6A8 LOC107987332 MIR6858 BCAP31 LAGE3 FAM3A ATP6AP1 OPN1LW PNMA6A SSR4 CH17-340M24.3 G6PD LOC105373386 ARHGAP4 SNORA70 PNCK MIR3202-2 LOC105373381 L1CAM FAM58A ZNF275 RENBP CTAG1A IDH3G SRPK3 OPN1MW FAM223A FAM50A LOC105373378 PDZD4 SLC10A3 ATP2B3 HAUS7 LOC105373377 AVPR2 HCFC1 DUSP9 IRAK1 OPN1MW2 IKBKG ABCD1 MECP2 PLXNB3 LOC107983954 MAGEA1 TKTL1 LCA10 TAZ FLNA UBL4A
nsv508816	Chr.X:154492171 - 154591783 on Build GRCh38	Insertion	FAM223A IKBKG G6PD FAM3A CTAG1A

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