Hs04122639_cn

• Gene Symbol: G6PD
• Assay Reference Genome Location: Chr.X:154536360 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	MIR1184-1 SLC10A3 MIR3202-2 FAM223A F8A1 MIR718 PLXNA3 MECP2 MPP1 CTAG1B RAB39B IRAK1 CTAG1A SMIM9 MIR1184-2 TMEM187 CTAG2 TMLHE H2AFB3 LOC105373386 BRCC3 OPN1MW2 MIR664B G6PD RPL10 FAM50A MIR1184-3 CH17-340M24.3 FUNDC2 IKBKG F8A3 CLIC2 SNORA36A F8 FLNA TMLHE-AS1 TKTL1 GDI1 LOC101927830 OPN1MW F8A2 SNORA56 TAZ MIR6858 MTCP1 FAM3A GAB3 SPRY3 CMC4 MIR3202-1 SNORA70 ATP6AP1 H2AFB2 EMD OPN1MW3 OPN1LW DNASE1L1 FAM223B HCFC1-AS1 VBP1 LAGE3 HCFC1 LOC107987332 UBL4A TEX28 DKC1 H2AFB1
nsv519042	Chr.X:154082978 - 154601444 on Build GRCh38	Gain	G6PD SLC10A3 RPL10 FAM50A CH17-340M24.3 FAM223A IKBKG PLXNA3 FLNA MECP2 TKTL1 GDI1 OPN1MW TAZ MIR6858 FAM3A CTAG1A SNORA70 ATP6AP1 EMD OPN1MW3 OPN1LW DNASE1L1 LAGE3 LOC105373386 LOC107987332 UBL4A TEX28 OPN1MW2
esv33199	Chr.X:153065734 - 154591978 on Build GRCh38	Gain+Loss	DUSP9 SLC10A3 HAUS7 MIR3202-2 FAM223A MIR718 PLXNA3 MECP2 AVPR2 PLXNB3 LOC105373378 SLC6A8 ZNF275 IRAK1 PNMA6A LOC105373383 BCAP31 CTAG1A FAM58A SSR4 IDH3G BGN LOC105373381 TMEM187 MAGEA1 RENBP PNCK LOC105373386 ATP2B3 TREX2 OPN1MW2 G6PD RPL10 FAM50A CH17-340M24.3 L1CAM PDZD4 IKBKG FLNA TKTL1 GDI1 OPN1MW TAZ MIR6858 LCA10 FAM3A MIR3202-1 SNORA70 ABCD1 ZFP92 ATP6AP1 SRPK3 EMD OPN1MW3 OPN1LW DNASE1L1 NAA10 HCFC1-AS1 LAGE3 HCFC1 LOC105373377 LOC107983954 LOC107987332 UBL4A ARHGAP4 TEX28
nsv508816	Chr.X:154492171 - 154591783 on Build GRCh38	Insertion	G6PD FAM223A IKBKG FAM3A CTAG1A

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