GeneBe

NQO1

NAD(P)H quinone dehydrogenase 1

Basic information

Region (hg38): 16:69706996-69726668

Previous symbols: [ "NMOR1", "DIA4" ]

Links

ENSG00000181019 ∙ NCBI:1728 ∙ OMIM:125860 ∙ HGNC:2874 ∙ Uniprot:P15559 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the NQO1 gene.

  • not_specified (265 variants)
  • not_provided (4 variants)
  • NQO1-related_disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NQO1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000903.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
129
clinvar
 129
missense
1
clinvar
130
clinvar
5
clinvar
 136
nonsense
1
clinvar
 1
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 2 130 134 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
NQO1protein_codingprotein_codingENST00000320623 619956
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
1.19e-90.101124869128661257470.00350
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.281061500.7050.000007681803
Missense in Polyphen3558.3120.60022687
Synonymous-0.03225857.71.010.00000338516
Loss of Function0.1131414.50.9687.88e-7157

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.04140.0412
Ashkenazi Jewish0.0001990.000198
East Asian0.0003260.000326
Finnish0.0007390.000739
European (Non-Finnish)0.0008100.000809
Middle Eastern0.0003260.000326
South Asian0.0002610.000261
Other0.003100.00310

dbNSFP

Source: dbNSFP

Function
FUNCTION: The enzyme apparently serves as a quinone reductase in connection with conjugation reactions of hydroquinons involved in detoxification pathways as well as in biosynthetic processes such as the vitamin K-dependent gamma-carboxylation of glutamate residues in prothrombin synthesis.;
Pathway
Ubiquinone and other terpenoid-quinone biosynthesis - Homo sapiens (human);Doxorubicin Pathway (Cancer Cell), Pharmacodynamics;Hepatocellular carcinoma - Homo sapiens (human);Fluid shear stress and atherosclerosis - Homo sapiens (human);Doxorubicin Pathway, Pharmacokinetics;Pathways in cancer - Homo sapiens (human);Phenytoin Pathway, Pharmacokinetics;Platinum Pathway, Pharmacokinetics/Pharmacodynamics;Phenytoin (Antiarrhythmic) Action Pathway;Doxorubicin Metabolism Pathway;Vitamin K Metabolism;Dopamine metabolism;Aryl Hydrocarbon Receptor;Apoptosis-related network due to altered Notch3 in ovarian cancer;Aryl Hydrocarbon Receptor Pathway;Nuclear Receptors Meta-Pathway;NRF2 pathway;Transcriptional activation by NRF2;Photodynamic therapy-induced NFE2L2 (NRF2) survival signaling;Simplified Interaction Map Between LOXL4 and Oxidative Stress Pathway;Benzene metabolism;Oxidative Stress;Estrogen metabolism;Regulation of ornithine decarboxylase (ODC);Metabolism of polyamines;Metabolism of amino acids and derivatives;Metabolism;Validated transcriptional targets of TAp63 isoforms (Consensus)

Recessive Scores

pRec
0.755

Intolerance Scores

loftool
0.989
rvis_EVS
0.55
rvis_percentile_EVS
81.38

Haploinsufficiency Scores

pHI
0.130
hipred
Y
hipred_score
0.575
ghis
0.408

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.989

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumHigh
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Nqo1
Phenotype
neoplasm; homeostasis/metabolism phenotype; cellular phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan);

Gene ontology

Biological process
regulation of cellular amino acid metabolic process;xenobiotic metabolic process;nitric oxide biosynthetic process;synaptic transmission, cholinergic;aging;response to nutrient;response to toxic substance;removal of superoxide radicals;electron transport chain;response to estradiol;negative regulation of apoptotic process;negative regulation of catalytic activity;positive regulation of neuron apoptotic process;response to ethanol;response to electrical stimulus;cellular response to hydrogen peroxide;cellular response to metal ion;response to nitrogen compound;response to hydrogen sulfide
Cellular component
cytoplasm;cytosol;dendrite;neuronal cell body
Molecular function
RNA binding;NAD(P)H dehydrogenase (quinone) activity;cytochrome-b5 reductase activity, acting on NAD(P)H;superoxide dismutase activity;protein binding;electron transfer activity;oxidoreductase activity;identical protein binding