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

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