Hs04100546_cn

• Gene Symbol: G6PD
• Assay Reference Genome Location: Chr.X:154541283 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	GAB3 MIR3202-1 MTCP1 OPN1MW3 G6PD MIR1184-2 H2AFB3 F8A2 LOC107987332 VBP1 IKBKG RAB39B ATP6AP1 CH17-340M24.3 MIR3202-2 IRAK1 H2AFB1 CLIC2 FAM223A CTAG1A FAM3A SNORA36A HCFC1-AS1 RPL10 TAZ CTAG1B OPN1LW LOC101927830 FUNDC2 EMD TMLHE-AS1 HCFC1 TEX28 FLNA CMC4 MIR6858 SNORA70 MPP1 F8A1 BRCC3 LAGE3 TKTL1 SLC10A3 DNASE1L1 TMEM187 CTAG2 OPN1MW2 LOC105373386 SNORA56 MIR1184-1 MIR718 SPRY3 PLXNA3 DKC1 MIR664B SMIM9 MECP2 OPN1MW F8 FAM50A GDI1 H2AFB2 TMLHE MIR1184-3 UBL4A F8A3 FAM223B
nsv519042	Chr.X:154082978 - 154601444 on Build GRCh38	Gain	OPN1MW3 G6PD LAGE3 LOC107987332 TKTL1 IKBKG SLC10A3 ATP6AP1 DNASE1L1 CH17-340M24.3 FAM223A OPN1MW2 LOC105373386 CTAG1A FAM3A PLXNA3 RPL10 TAZ OPN1LW EMD MECP2 OPN1MW TEX28 FAM50A FLNA GDI1 MIR6858 SNORA70 UBL4A
esv33199	Chr.X:153065734 - 154591978 on Build GRCh38	Gain+Loss	MIR3202-1 OPN1MW3 G6PD SLC6A8 LOC105373383 LOC107987332 IKBKG ATP6AP1 CH17-340M24.3 MIR3202-2 IRAK1 FAM223A PDZD4 CTAG1A FAM3A HCFC1-AS1 BCAP31 RPL10 TAZ SSR4 OPN1LW NAA10 LCA10 EMD HCFC1 RENBP TEX28 FAM58A FLNA MIR6858 SNORA70 ARHGAP4 AVPR2 PNCK ABCD1 IDH3G LOC105373377 LAGE3 TKTL1 LOC105373381 LOC107983954 SLC10A3 LOC105373378 DNASE1L1 TMEM187 SRPK3 OPN1MW2 LOC105373386 PNMA6A ATP2B3 MIR718 PLXNA3 TREX2 MAGEA1 MECP2 OPN1MW PLXNB3 FAM50A GDI1 DUSP9 ZNF275 L1CAM UBL4A ZFP92 BGN HAUS7
nsv508816	Chr.X:154492171 - 154591783 on Build GRCh38	Insertion	G6PD FAM223A CTAG1A FAM3A 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