Hs00788204_cn

• Gene Symbol: G6PD
• Assay Reference Genome Location: Chr.X:154531588 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 Exon 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
G6PD	NM_000402.4	13	2198	NP_000393.4
	NM_001042351.2	13	2087	NP_001035810.1
	AK292304.1
	AK302341.1	13	1783
	BC000337.2	13	2013	AAH00337.1
	BU589629.1
	M21248.1	12	1974	AAA52500.1
	X03674.1	13	2430	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	RAB39B F8A3 MECP2 SLC10A3 TKTL1 TEX28 VBP1 MIR3202-1 MIR718 FLNA MIR664B MIR6858 MTCP1 CMC4 H2AFB3 FAM223A OPN1MW LOC105373386 EMD LOC107987332 ATP6AP1 FAM223B RPL10 F8A1 CTAG1A LOC101927830 TAZ HCFC1 GDI1 CLIC2 GAB3 MIR1184-2 OPN1MW2 H2AFB1 IRAK1 TMLHE-AS1 OPN1MW3 SMIM9 SNORA36A OPN1LW FUNDC2 MIR1184-3 IKBKG UBL4A MIR1184-1 G6PD SPRY3 F8A2 HCFC1-AS1 TMEM187 H2AFB2 CTAG1B PLXNA3 FAM3A CTAG2 TMLHE F8 CH17-340M24.3 MPP1 FAM50A BRCC3 DKC1 SNORA56 MIR3202-2 SNORA70 DNASE1L1 LAGE3
nsv519042	Chr.X:154082978 - 154601444 on Build GRCh38	Gain	MECP2 SLC10A3 TKTL1 TEX28 OPN1MW3 FLNA MIR6858 OPN1LW IKBKG UBL4A G6PD FAM223A OPN1MW PLXNA3 LOC105373386 FAM3A EMD LOC107987332 ATP6AP1 RPL10 CH17-340M24.3 FAM50A CTAG1A TAZ SNORA70 GDI1 DNASE1L1 LAGE3 OPN1MW2
esv33199	Chr.X:153065734 - 154591978 on Build GRCh38	Gain+Loss	MECP2 SLC6A8 SLC10A3 HAUS7 SSR4 TKTL1 TEX28 MIR3202-1 MIR718 FLNA LOC107983954 MIR6858 PNCK MAGEA1 NAA10 FAM223A OPN1MW L1CAM ZNF275 LOC105373386 EMD LOC107987332 ARHGAP4 ATP6AP1 ZFP92 RPL10 LOC105373383 BCAP31 CTAG1A TAZ ABCD1 HCFC1 GDI1 OPN1MW2 IRAK1 FAM58A LCA10 OPN1MW3 BGN AVPR2 DUSP9 OPN1LW LOC105373377 IKBKG UBL4A G6PD HCFC1-AS1 LOC105373378 PDZD4 TMEM187 PNMA6A SRPK3 LOC105373381 PLXNA3 FAM3A ATP2B3 PLXNB3 CH17-340M24.3 FAM50A TREX2 MIR3202-2 SNORA70 IDH3G DNASE1L1 RENBP LAGE3
nsv508816	Chr.X:154492171 - 154591783 on Build GRCh38	Insertion	CTAG1A FAM3A IKBKG G6PD FAM223A

More Information

• Set Membership: Intragenic, 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