Hs04117604_cn

• Gene Symbol: G6PD
• Assay Reference Genome Location: Chr.X:154540757 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 3

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
	AL560686.3
	BC000337.2			AAH00337.1
	DC394789.1
	M21248.1			AAA52500.1
	M27940.1			AAA52504.1
	S58359.1			AAB26169.1
	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	TMLHE-AS1 EMD CH17-340M24.3 MECP2 MPP1 MIR1184-2 CMC4 H2AFB1 H2AFB3 F8A2 CTAG1B MIR1184-1 SLC10A3 GDI1 IKBKG SMIM9 G6PD IRAK1 MIR3202-2 MTCP1 FAM223B RPL10 OPN1LW TAZ LOC105373386 TEX28 RAB39B TMLHE FAM50A H2AFB2 MIR718 MIR664B FAM223A SPRY3 HCFC1-AS1 LOC101927830 FLNA CTAG2 CTAG1A OPN1MW TKTL1 DNASE1L1 GAB3 FUNDC2 F8 MIR6858 VBP1 SNORA70 LOC107987332 SNORA56 MIR3202-1 OPN1MW3 F8A1 CLIC2 F8A3 UBL4A MIR1184-3 OPN1MW2 FAM3A LAGE3 HCFC1 TMEM187 BRCC3 SNORA36A DKC1 ATP6AP1 PLXNA3
nsv519042	Chr.X:154082978 - 154601444 on Build GRCh38	Gain	EMD CH17-340M24.3 MECP2 FAM223A FLNA CTAG1A OPN1MW TKTL1 DNASE1L1 MIR6858 SLC10A3 SNORA70 GDI1 IKBKG LOC107987332 G6PD OPN1MW3 RPL10 OPN1LW UBL4A TAZ LOC105373386 OPN1MW2 TEX28 FAM3A FAM50A LAGE3 ATP6AP1 PLXNA3
esv33199	Chr.X:153065734 - 154591978 on Build GRCh38	Gain+Loss	TREX2 EMD CH17-340M24.3 MECP2 LOC107983954 IDH3G ATP2B3 LOC105373381 NAA10 SLC10A3 ZNF275 GDI1 IKBKG G6PD IRAK1 MIR3202-2 MAGEA1 RPL10 LOC105373383 DUSP9 OPN1LW SSR4 TAZ LOC105373386 LCA10 L1CAM TEX28 FAM50A PLXNB3 ABCD1 MIR718 SRPK3 FAM223A BCAP31 HCFC1-AS1 FLNA LOC105373378 CTAG1A OPN1MW RENBP HAUS7 TKTL1 DNASE1L1 PNCK MIR6858 ARHGAP4 SNORA70 LOC107987332 AVPR2 MIR3202-1 OPN1MW3 BGN PDZD4 UBL4A SLC6A8 OPN1MW2 FAM3A PNMA6A LAGE3 HCFC1 TMEM187 ATP6AP1 PLXNA3 ZFP92 FAM58A LOC105373377
nsv508816	Chr.X:154492171 - 154591783 on Build GRCh38	Insertion	IKBKG G6PD FAM3A CTAG1A FAM223A

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