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