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