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