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.

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.

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				3	6	9
missense			76	5	2	83
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				2	2	4
non coding				2	2	4
Total	0	0	76	10	10

Variants in DUOX1

This is a list of pathogenic ClinVar variants found in the DUOX1 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-45134142-C-A		DUOX1-related disorder	Likely benign (Dec 27, 2022)
15-45134148-C-T		not specified	Uncertain significance (Mar 30, 2024)
15-45134175-G-A			Likely benign (Nov 01, 2022)
15-45134189-G-A		not specified	Uncertain significance (Jan 02, 2024)
15-45135111-C-G		not specified	Uncertain significance (May 24, 2024)
15-45135133-G-A		not specified	Uncertain significance (May 10, 2022)
15-45135179-C-T		not specified	Uncertain significance (Apr 09, 2024)
15-45135244-C-T		not specified	Uncertain significance (Jul 28, 2024)
15-45135489-G-A		not specified	Uncertain significance (Jul 23, 2024)
15-45135494-G-T		not specified	Uncertain significance (Dec 04, 2024)
15-45135534-A-G		not specified	Uncertain significance (Jun 26, 2024)
15-45135547-G-C		not specified	Uncertain significance (Aug 25, 2021)
15-45135557-C-G			Benign (Feb 01, 2023)
15-45135558-A-G			Likely benign (Dec 01, 2022)
15-45135588-G-A		not specified	Uncertain significance (Apr 27, 2022)
15-45135593-T-C			Likely benign (Nov 01, 2022)
15-45135594-C-A		not specified	Uncertain significance (May 12, 2024)
15-45135648-G-A		not specified	Uncertain significance (Jan 22, 2024)
15-45135818-T-A		not specified	Uncertain significance (Oct 04, 2024)
15-45135848-A-G		not specified	Uncertain significance (Jan 23, 2024)
15-45135935-T-C		not specified	Uncertain significance (May 16, 2023)
15-45136353-A-G		not specified	Uncertain significance (Sep 24, 2024)
15-45136357-C-T		not specified	Uncertain significance (Dec 02, 2022)
15-45136375-C-G		not specified	Uncertain significance (Sep 30, 2021)
15-45136534-C-T		not specified	Uncertain significance (May 08, 2024)

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

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