DUOXA1
Basic information
Region (hg38): 15:45117365-45129938
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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.
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 | |||||
missense | 24 | 31 | ||||
nonsense | 1 | |||||
start loss | 0 | |||||
frameshift | 2 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 2 | |||||
Total | 0 | 0 | 29 | 5 | 3 |
Variants in DUOXA1
This is a list of pathogenic ClinVar variants found in the DUOXA1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
15-45117534-C-G | Benign (Jul 09, 2018) | |||
15-45117660-G-A | Uncertain significance (Nov 01, 2022) | |||
15-45117721-CTG-C | not specified | Uncertain significance (Jun 27, 2023) | ||
15-45117729-C-G | not specified | Uncertain significance (Aug 16, 2021) | ||
15-45117763-G-A | Inborn genetic diseases | Uncertain significance (May 13, 2024) | ||
15-45117767-G-C | Inborn genetic diseases | Uncertain significance (Nov 13, 2023) | ||
15-45117777-T-G | Likely benign (Jun 19, 2018) | |||
15-45117781-C-A | Uncertain significance (Jan 01, 2023) | |||
15-45117838-CTT-C | Benign (Dec 05, 2019) | |||
15-45117885-A-T | Inborn genetic diseases | Uncertain significance (Dec 17, 2021) | ||
15-45117906-G-T | not specified | Uncertain significance (Aug 12, 2021) | ||
15-45117907-TGA-T | Uncertain significance (Apr 14, 2017) | |||
15-45118039-G-T | not specified | Uncertain significance (Aug 12, 2021) | ||
15-45119179-G-C | not specified | Uncertain significance (Apr 18, 2023) | ||
15-45119187-C-A | not specified | Uncertain significance (Feb 21, 2024) | ||
15-45119222-G-A | not specified | Uncertain significance (Oct 29, 2021) | ||
15-45119225-G-T | not specified | Uncertain significance (Aug 17, 2021) | ||
15-45119240-C-T | not specified | Uncertain significance (May 23, 2023) | ||
15-45119246-C-T | not specified | Uncertain significance (Apr 15, 2024) | ||
15-45119332-G-A | not specified | Likely benign (Aug 17, 2022) | ||
15-45119354-C-A | not specified | Uncertain significance (Sep 23, 2023) | ||
15-45120112-A-T | not specified | Uncertain significance (Oct 22, 2021) | ||
15-45120120-C-G | not specified | Uncertain significance (Aug 12, 2022) | ||
15-45120126-G-A | not specified | Uncertain significance (Jul 07, 2022) | ||
15-45120127-C-T | not specified | Uncertain significance (May 27, 2022) |
GnomAD
Source:
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:
- 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
- loftool
- 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
- Phenotype
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
- Molecular function