Hs01891806_cn

• Gene Symbol: G6PD
• Assay Reference Genome Location: Chr.X:154531749 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	2037	NP_000393.4
	NM_001042351.2	13	1926	NP_001035810.1
	AK292304.1	14	1813
	AK302341.1	13	1622
	BC000337.2	13	1852	AAH00337.1
	M21248.1	12	1813	AAA52500.1
	X03674.1	13	2269	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	H2AFB2 SNORA36A OPN1MW2 TMLHE-AS1 DNASE1L1 OPN1LW MTCP1 LOC107987332 TAZ TMEM187 FAM50A FAM3A OPN1MW3 HCFC1-AS1 OPN1MW MECP2 GAB3 VBP1 RPL10 RAB39B UBL4A MIR1184-2 H2AFB3 FLNA GDI1 MPP1 FAM223A CTAG1B MIR664B CTAG2 IRAK1 DKC1 G6PD MIR1184-1 MIR6858 SMIM9 TMLHE SNORA70 FUNDC2 MIR3202-1 F8 SLC10A3 TKTL1 F8A2 FAM223B SNORA56 SPRY3 LOC105373386 MIR718 MIR3202-2 CLIC2 F8A1 MIR1184-3 CH17-340M24.3 BRCC3 PLXNA3 LOC101927830 ATP6AP1 HCFC1 H2AFB1 TEX28 LAGE3 CTAG1A EMD IKBKG CMC4 F8A3
nsv519042	Chr.X:154082978 - 154601444 on Build GRCh38	Gain	SNORA70 OPN1MW2 DNASE1L1 OPN1LW LOC107987332 TAZ FAM50A FAM3A OPN1MW3 SLC10A3 TKTL1 OPN1MW MECP2 LOC105373386 RPL10 UBL4A FLNA GDI1 FAM223A CH17-340M24.3 PLXNA3 ATP6AP1 TEX28 G6PD LAGE3 CTAG1A MIR6858 EMD IKBKG
esv33199	Chr.X:153065734 - 154591978 on Build GRCh38	Gain+Loss	OPN1MW2 DNASE1L1 OPN1LW L1CAM LOC107987332 TAZ LOC105373383 TMEM187 FAM50A SLC6A8 FAM3A OPN1MW3 DUSP9 HCFC1-AS1 OPN1MW IDH3G MECP2 ZNF275 SRPK3 LOC105373378 HAUS7 RPL10 BCAP31 PLXNB3 AVPR2 UBL4A FLNA GDI1 FAM223A LOC107983954 ATP2B3 IRAK1 ABCD1 G6PD PNCK MIR6858 NAA10 RENBP PNMA6A SNORA70 MIR3202-1 ARHGAP4 ZFP92 LCA10 SLC10A3 TKTL1 LOC105373377 SSR4 MAGEA1 BGN PDZD4 LOC105373386 MIR718 MIR3202-2 CH17-340M24.3 PLXNA3 ATP6AP1 HCFC1 TEX28 LAGE3 TREX2 CTAG1A EMD IKBKG LOC105373381 FAM58A
nsv508816	Chr.X:154492171 - 154591783 on Build GRCh38	Insertion	G6PD CTAG1A IKBKG FAM223A FAM3A

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