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.

not_specified (87 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. These statistics are base on transcript: NM_001256067.2. 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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous			4 clinvar	1 clinvar		5
missense			82 clinvar	6 clinvar		88
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			6 clinvar			6
Total	0	0	93	7	0

Loading clinvar variants...

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