NOXA1

NADPH oxidase activator 1

Basic information

Region (hg38): 9:137423350-137434406

Previous symbols: [ "SDCCAG31" ]

Links

ENSG00000188747 ∙ NCBI:10811 ∙ OMIM:611255 ∙ HGNC:10668 ∙ Uniprot:Q86UR1 ∙ 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 NOXA1 gene.

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		1
missense			30	3		33
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	30	4	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)
9-137423659-G-A		not specified	Uncertain significance (Jan 29, 2024)
9-137423689-C-T		not specified	Uncertain significance (Aug 22, 2023)
9-137426263-G-A		not specified	Uncertain significance (Nov 17, 2022)
9-137426276-C-A		not specified	Uncertain significance (May 13, 2024)
9-137426287-G-A		not specified	Uncertain significance (Apr 30, 2024)
9-137428097-G-A		not specified	Uncertain significance (Jul 12, 2023)
9-137428886-T-C		not specified	Uncertain significance (Feb 28, 2024)
9-137428892-A-G		not specified	Uncertain significance (Mar 24, 2023)
9-137428937-C-T		not specified	Uncertain significance (Jun 02, 2023)
9-137428970-C-T		not specified	Uncertain significance (Apr 25, 2024)
9-137429280-G-A		not specified	Likely benign (May 20, 2024)
9-137429312-G-A		not specified	Uncertain significance (Jun 22, 2023)
9-137429318-G-A		not specified	Uncertain significance (Jun 02, 2023)
9-137429324-C-T		not specified	Uncertain significance (Apr 18, 2023)
9-137429360-G-A		not specified	Likely benign (Jan 23, 2023)
9-137430805-G-A		not specified	Uncertain significance (Feb 05, 2024)
9-137430807-C-T			Likely benign (Apr 01, 2023)
9-137430808-G-A		not specified	Uncertain significance (Aug 26, 2022)
9-137431090-C-G		not specified	Uncertain significance (Feb 28, 2023)
9-137431253-C-A		not specified	Uncertain significance (Apr 24, 2024)
9-137431312-C-G		not specified	Uncertain significance (Oct 05, 2021)
9-137433032-C-T		not specified	Uncertain significance (May 06, 2024)
9-137433048-T-C		not specified	Likely benign (Dec 15, 2022)
9-137433217-T-TG			not provided (-)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NOXA1	protein_coding	protein_coding	ENST00000341349	14	11057

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.81e-9	0.730	125495	0	137	125632	0.000545

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.578	233	259	0.899	0.0000156	2992
Missense in Polyphen		72	90.155	0.79862		1142
Synonymous	-0.0293	121	121	1.00	0.00000814	1017
Loss of Function	1.44	17	24.7	0.688	0.00000125	271

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000831	0.000801
Ashkenazi Jewish	0.00	0.00
East Asian	0.000237	0.000218
Finnish	0.000416	0.000416
European (Non-Finnish)	0.000627	0.000616
Middle Eastern	0.000237	0.000218
South Asian	0.000800	0.000752
Other	0.00149	0.00147

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

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

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