Hs04107972_cn

• Gene Symbol: G6PD
• Assay Reference Genome Location: Chr.X:154541855 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	FAM223A LAGE3 CTAG2 MPP1 LOC101927830 RPL10 CTAG1A EMD LOC105373386 MIR1184-1 SNORA36A PLXNA3 CLIC2 DNASE1L1 MECP2 SMIM9 MIR664B MIR3202-1 H2AFB1 FAM223B OPN1MW UBL4A MIR718 F8A1 F8A2 SPRY3 F8 TMLHE BRCC3 OPN1MW3 MIR1184-3 DKC1 TMLHE-AS1 TAZ GAB3 IRAK1 VBP1 FAM3A TKTL1 ATP6AP1 OPN1MW2 HCFC1 TEX28 RAB39B SLC10A3 MTCP1 FUNDC2 LOC107987332 GDI1 CTAG1B H2AFB3 FAM50A MIR6858 CMC4 CH17-340M24.3 H2AFB2 SNORA70 IKBKG OPN1LW FLNA G6PD MIR3202-2 HCFC1-AS1 TMEM187 SNORA56 MIR1184-2 F8A3
nsv519042	Chr.X:154082978 - 154601444 on Build GRCh38	Gain	OPN1MW3 FAM223A LAGE3 TAZ FAM3A TKTL1 ATP6AP1 RPL10 OPN1MW2 TEX28 CTAG1A SLC10A3 EMD LOC105373386 LOC107987332 GDI1 PLXNA3 FAM50A DNASE1L1 MECP2 MIR6858 CH17-340M24.3 SNORA70 IKBKG OPN1LW OPN1MW UBL4A FLNA G6PD
esv33199	Chr.X:153065734 - 154591978 on Build GRCh38	Gain+Loss	SRPK3 IDH3G FAM223A AVPR2 LAGE3 ZFP92 LOC105373377 RPL10 CTAG1A LOC105373383 EMD LOC105373386 RENBP PLXNA3 DNASE1L1 MECP2 ABCD1 MIR3202-1 TREX2 PLXNB3 LOC105373381 DUSP9 OPN1MW UBL4A MIR718 OPN1MW3 LOC107983954 TAZ SLC6A8 IRAK1 FAM3A TKTL1 BCAP31 ATP6AP1 OPN1MW2 HCFC1 TEX28 SSR4 SLC10A3 FAM58A ARHGAP4 LOC105373378 LOC107987332 GDI1 PNCK FAM50A BGN MIR6858 CH17-340M24.3 PDZD4 ZNF275 LCA10 SNORA70 ATP2B3 IKBKG NAA10 OPN1LW PNMA6A HAUS7 L1CAM FLNA G6PD MIR3202-2 HCFC1-AS1 TMEM187 MAGEA1
nsv508816	Chr.X:154492171 - 154591783 on Build GRCh38	Insertion	CTAG1A FAM223A G6PD 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