DUOX1

dual oxidase 1, the group of EF-hand domain containing

Basic information

Region (hg38): 15:45129933-45165576

Links

ENSG00000137857

∙ NCBI:53905 ∙ OMIM:606758 ∙ HGNC:3062 ∙ Uniprot:Q9NRD9 ∙ 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 DUOX1 gene.

not_specified (171 variants)
not_provided (28 variants)
DUOX1-related_disorder (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DUOX1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000175940.3. 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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				5 clinvar	7 clinvar	12
missense			174 clinvar	10 clinvar	1 clinvar	185
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	175	15	8

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DUOX1	protein_coding	protein_coding	ENST00000321429	33	35644

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.22e-33	0.0478	125182	0	566	125748	0.00225

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.886	862	938	0.919	0.0000601	10083
Missense in Polyphen		221	258.32	0.85554		2806
Synonymous	-0.142	384	380	1.01	0.0000225	3145
Loss of Function	2.00	61	80.4	0.759	0.00000423	850

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00321	0.00315
Ashkenazi Jewish	0.00219	0.00218
East Asian	0.00210	0.00207
Finnish	0.000418	0.000416
European (Non-Finnish)	0.00272	0.00268
Middle Eastern	0.00210	0.00207
South Asian	0.00275	0.00275
Other	0.00229	0.00228

dbNSFP

Source: dbNSFP

Function: FUNCTION: Generates hydrogen peroxide which is required for the activity of thyroid peroxidase/TPO and lactoperoxidase/LPO. Plays a role in thyroid hormones synthesis and lactoperoxidase-mediated antimicrobial defense at the surface of mucosa. May have its own peroxidase activity through its N-terminal peroxidase-like domain. {ECO:0000269|PubMed:11514595, ECO:0000269|PubMed:12824283}.;
Pathway: Thyroid hormone synthesis;Metabolism of amino acids and derivatives;Metabolism;Thyroxine biosynthesis;Amine-derived hormones (Consensus)

Recessive Scores

pRec: 0.220

Intolerance Scores

loftool: 0.0575
rvis_EVS: -2.42
rvis_percentile_EVS: 1.04

Haploinsufficiency Scores

pHI: 0.350
hipred: Y
hipred_score: 0.581
ghis: 0.524

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.265

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Duox1
Phenotype

Zebrafish Information Network

Gene name: duox
Affected structure: neutrophil
Phenotype tag: abnormal
Phenotype quality: decreased process quality

Gene ontology

Biological process: thyroid hormone generation;defense response;response to oxidative stress;cytokine-mediated signaling pathway;cuticle development;hormone biosynthetic process;superoxide anion generation;hydrogen peroxide catabolic process;hydrogen peroxide biosynthetic process;response to cAMP;oxidation-reduction process;positive regulation of wound healing;cellular oxidant detoxification;positive regulation of cell motility
Cellular component: endoplasmic reticulum;plasma membrane;cell surface;integral component of membrane;apical plasma membrane;cell leading edge;NADPH oxidase complex
Molecular function: peroxidase activity;calcium ion binding;protein binding;NAD(P)H oxidase activity;superoxide-generating NADPH oxidase activity;heme binding;NADP binding