DUOXA1

dual oxidase maturation factor 1

Basic information

Region (hg38): 15:45117366-45129938

Links

ENSG00000140254 ∙ NCBI:90527 ∙ OMIM:612771 ∙ HGNC:26507 ∙ Uniprot:Q1HG43 ∙ 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 DUOXA1 gene.

• not_specified (45 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DUOXA1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001276266.2. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			38	8	1	47
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	38	8	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DUOXA1	protein_coding	protein_coding	ENST00000267803	8	12568

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000759	0.926	125734	0	14	125748	0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.721	250	284	0.880	0.0000160	3051
Missense in Polyphen		60	67.587	0.88774		815
Synonymous	-0.191	123	120	1.02	0.00000675	1061
Loss of Function	1.64	9	16.1	0.560	6.95e-7	192

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000617	0.0000615
Middle Eastern	0.00	0.00
South Asian	0.000134	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be required for the maturation and the transport from the endoplasmic reticulum to the plasma membrane of functional DUOX1. {ECO:0000305|PubMed:16651268}.

Recessive Scores

• pRec: 0.180

Intolerance Scores

• rvis_EVS: 0.26
• rvis_percentile_EVS: 70.52

Haploinsufficiency Scores

• pHI: 0.0474
• hipred: N
• hipred_score: 0.246
• ghis: 0.423

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00956

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Duoxa1

Gene ontology

• Biological process: protein localization;positive regulation of hydrogen peroxide biosynthetic process;protein transport;cellular protein localization;hydrogen peroxide metabolic process;positive regulation of neuron differentiation;regulation of inflammatory response;regulation of thyroid hormone generation
• Cellular component: endoplasmic reticulum membrane;plasma membrane;integral component of membrane