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GeneBe

NOXA1

NADPH oxidase activator 1

Basic information

Region (hg38): 9:137423349-137434406

Previous symbols: [ "SDCCAG31" ]

Links

ENSG00000188747NCBI:10811OMIM:611255HGNC:10668Uniprot:Q86UR1AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the NOXA1 gene.

  • Inborn genetic diseases (27 variants)
  • not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NOXA1 gene is commonly pathogenic or not.

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.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
1
clinvar
1
missense
25
clinvar
2
clinvar
27
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 25 3 0

Variants in NOXA1

This is a list of pathogenic ClinVar variants found in the NOXA1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
9-137423636-C-T not specified Uncertain significance (Aug 23, 2021)2351824
9-137423659-G-A not specified Uncertain significance (Jan 29, 2024)3201465
9-137423689-C-T not specified Uncertain significance (Aug 22, 2023)2621234
9-137426263-G-A not specified Uncertain significance (Nov 17, 2022)2374551
9-137428097-G-A not specified Uncertain significance (Jul 12, 2023)2602330
9-137428886-T-C not specified Uncertain significance (Feb 28, 2024)3201467
9-137428892-A-G not specified Uncertain significance (Mar 24, 2023)2529037
9-137428937-C-T not specified Uncertain significance (Jun 02, 2023)2510804
9-137429312-G-A not specified Uncertain significance (Jun 22, 2023)2605098
9-137429318-G-A not specified Uncertain significance (Jun 02, 2023)2555346
9-137429324-C-T not specified Uncertain significance (Apr 18, 2023)2513953
9-137429360-G-A not specified Likely benign (Jan 23, 2023)2478276
9-137430805-G-A not specified Uncertain significance (Feb 05, 2024)3201468
9-137430807-C-T Likely benign (Apr 01, 2023)2659822
9-137430808-G-A not specified Uncertain significance (Aug 26, 2022)2217467
9-137431090-C-G not specified Uncertain significance (Feb 28, 2023)2472279
9-137431312-C-G not specified Uncertain significance (Oct 05, 2021)2401013
9-137433048-T-C not specified Likely benign (Dec 15, 2022)2335290
9-137433217-T-TG not provided (-)441014
9-137433252-G-A not specified Uncertain significance (Feb 06, 2023)2457767
9-137433258-G-A not specified Uncertain significance (Mar 07, 2023)2456506
9-137433262-G-A not specified Uncertain significance (Aug 11, 2022)2343455
9-137433474-G-A not specified Uncertain significance (Dec 06, 2022)2384305
9-137433540-G-A not specified Uncertain significance (Apr 13, 2022)2385886
9-137433555-C-T not specified Uncertain significance (Dec 13, 2022)2411276

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
NOXA1protein_codingprotein_codingENST00000341349 1411057
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
2.81e-90.73012549501371256320.000545
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.5782332590.8990.00001562992
Missense in Polyphen7290.1550.798621142
Synonymous-0.02931211211.000.000008141017
Loss of Function1.441724.70.6880.00000125271

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0008310.000801
Ashkenazi Jewish0.000.00
East Asian0.0002370.000218
Finnish0.0004160.000416
European (Non-Finnish)0.0006270.000616
Middle Eastern0.0002370.000218
South Asian0.0008000.000752
Other0.001490.00147

dbNSFP

Source: dbNSFP

Function
FUNCTION: Functions as an activator of NOX1, a superoxide- producing NADPH oxidase. Functions in the production of reactive oxygen species (ROS) which participate in a variety of biological processes including host defense, hormone biosynthesis, oxygen sensing and signal transduction. May also activate CYBB/gp91phox and NOX3. {ECO:0000269|PubMed:12657628, ECO:0000269|PubMed:12716910, ECO:0000269|PubMed:14617635, ECO:0000269|PubMed:14978110, ECO:0000269|PubMed:15181005, ECO:0000269|PubMed:15824103, ECO:0000269|PubMed:17602954, ECO:0000269|PubMed:19755710}.;
Pathway
Signal Transduction;RHO GTPases Activate NADPH Oxidases;RHO GTPase Effectors;Signaling by Rho GTPases;RAC1 signaling pathway (Consensus)

Recessive Scores

pRec
0.147

Intolerance Scores

loftool
0.368
rvis_EVS
0.76
rvis_percentile_EVS
86.8

Haploinsufficiency Scores

pHI
0.110
hipred
N
hipred_score
0.398
ghis
0.488

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.818

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Noxa1
Phenotype
normal phenotype;

Gene ontology

Biological process
superoxide metabolic process;regulation of hydrogen peroxide metabolic process;positive regulation of catalytic activity;regulation of respiratory burst
Cellular component
cytosol;NADPH oxidase complex
Molecular function
protein binding;superoxide-generating NADPH oxidase activator activity;SH3 domain binding;enzyme binding;Rac GTPase binding