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