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