Hs01538468_cn

• Gene Symbol: G6PD
• Assay Reference Genome Location: Chr.X:154547524 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: Overlaps Intron 1 - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
G6PD	NM_001042351.2			NP_001035810.1
	AL560686.3
	DC394789.1

Target Gene Details

• Entrez Gene ID: 8517
• Gene Name: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
• Gene Aliases: AMCBX1, FIP-3, FIP3, Fip3p, IKK-gamma, IKKAP1, IKKG, IMD33, IP, IP1, IP2, IPD2, NEMO, ZC2HC9
• Location: Chr.X:154542240-154565046 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
IKBKG	NM_001099856.4			NP_001093326.2
	NM_001099857.2	1	178	NP_001093327.1
	NM_001145255.2	1	178	NP_001138727.1
	NM_001321396.1			NP_001308325.1
	NM_001321397.1	1	178	NP_001308326.1
	AF074382.1			AAC36330.1
	AK308366.1	1	178
	AY114157.1			AAM44073.1
	BC012114.1			AAH12114.1
	BM473416.1
	DC410130.1	1	178

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

More Information

• Set Membership: Intragenic, Exonic, 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
activation of MAPK activity
stimulatory C-type lectin receptor signaling pathway
transcription, DNA-templated
apoptotic process
inflammatory response
immune response
cellular response to DNA damage stimulus
I-kappaB kinase/NF-kappaB signaling
JNK cascade
response to virus
regulation of tumor necrosis factor-mediated signaling pathway
TRIF-dependent toll-like receptor signaling pathway
Fc-epsilon receptor signaling pathway
positive regulation of I-kappaB kinase/NF-kappaB signaling
innate immune response
positive regulation of transcription from RNA polymerase II promoter
T cell receptor signaling pathway
positive regulation of NF-kappaB transcription factor activity
stress-activated MAPK cascade
establishment of vesicle localization
nucleotide-binding oligomerization domain containing signaling pathway
negative regulation of neuron death

Function(s)

glucose-6-phosphate dehydrogenase activity
protein binding
glucose binding
identical protein binding
protein homodimerization activity
NADP binding
signal transducer activity
protein domain specific binding
ubiquitin protein ligase binding
peroxisome proliferator activated receptor binding
metal ion binding
protein heterodimerization activity
K63-linked polyubiquitin binding
linear polyubiquitin binding