Hs04106825_cn

• Gene Symbol: G6PD
• Assay Reference Genome Location: Chr.X:154535658 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 5

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