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