Hs04106825_cn

• Gene Symbol: G6PD
• Assay Reference Genome Location: Chr.X:154535658 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 5

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
	DC394789.1
	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	UBL4A MIR1184-2 LAGE3 SNORA56 FAM50A DKC1 MECP2 GDI1 TMLHE-AS1 MIR6858 SMIM9 EMD OPN1MW3 FAM223B CLIC2 CTAG2 MIR1184-3 MTCP1 SLC10A3 TKTL1 LOC107987332 OPN1MW2 MIR3202-2 F8A2 TMEM187 H2AFB1 H2AFB3 TEX28 SPRY3 G6PD FUNDC2 CTAG1B F8A3 HCFC1-AS1 IRAK1 TAZ OPN1MW MIR3202-1 MIR718 OPN1LW VBP1 SNORA70 PLXNA3 F8 HCFC1 IKBKG RAB39B MIR664B MIR1184-1 CMC4 FLNA TMLHE BRCC3 SNORA36A ATP6AP1 GAB3 LOC101927830 RPL10 CH17-340M24.3 F8A1 H2AFB2 MPP1 DNASE1L1 FAM223A LOC105373386 CTAG1A FAM3A
nsv519042	Chr.X:154082978 - 154601444 on Build GRCh38	Gain	UBL4A OPN1LW LAGE3 SNORA70 FAM50A MECP2 GDI1 MIR6858 PLXNA3 EMD OPN1MW3 IKBKG FLNA SLC10A3 TKTL1 LOC107987332 OPN1MW2 ATP6AP1 TEX28 RPL10 G6PD CH17-340M24.3 DNASE1L1 FAM223A LOC105373386 TAZ OPN1MW CTAG1A FAM3A
esv33199	Chr.X:153065734 - 154591978 on Build GRCh38	Gain+Loss	UBL4A LAGE3 LOC105373383 FAM50A MECP2 LCA10 GDI1 MIR6858 EMD ZFP92 OPN1MW3 NAA10 SLC10A3 TKTL1 BCAP31 LOC107987332 SLC6A8 OPN1MW2 MIR3202-2 TMEM187 AVPR2 HAUS7 TEX28 LOC105373378 G6PD IDH3G L1CAM PLXNB3 HCFC1-AS1 RENBP DUSP9 IRAK1 TAZ OPN1MW MIR3202-1 SSR4 ABCD1 BGN PDZD4 MIR718 ATP2B3 OPN1LW SNORA70 LOC105373377 FAM58A PLXNA3 TREX2 LOC105373381 HCFC1 IKBKG ZNF275 FLNA PNCK LOC107983954 PNMA6A ATP6AP1 ARHGAP4 RPL10 CH17-340M24.3 DNASE1L1 FAM223A LOC105373386 MAGEA1 CTAG1A FAM3A SRPK3
nsv508816	Chr.X:154492171 - 154591783 on Build GRCh38	Insertion	IKBKG FAM223A CTAG1A FAM3A G6PD

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