Hs04118481_cn

• Gene Symbol: G6PD
• Assay Reference Genome Location: Chr.X:154532890 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 10

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

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