AOC1
Basic information
Region (hg38): 7:150824626-150861504
Previous symbols: [ "ABP1", "ABP" ]
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 AOC1 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 | 40 | 44 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 1 | |||||
| Total | 0 | 0 | 40 | 5 | 1 |
Variants in AOC1
This is a list of pathogenic ClinVar variants found in the AOC1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| AOC1 | protein_coding | protein_coding | ENST00000493429 | 4 | 36878 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 6.72e-8 | 0.889 | 125255 | 0 | 83 | 125338 | 0.000331 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.758 | 428 | 474 | 0.902 | 0.0000304 | 4887 |
| Missense in Polyphen | 154 | 175.16 | 0.87918 | 1842 | ||
| Synonymous | 0.675 | 193 | 205 | 0.940 | 0.0000139 | 1548 |
| Loss of Function | 1.68 | 15 | 23.8 | 0.629 | 0.00000120 | 248 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000631 | 0.000608 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000724 | 0.000723 |
| Finnish | 0.0000930 | 0.0000928 |
| European (Non-Finnish) | 0.000339 | 0.000335 |
| Middle Eastern | 0.000724 | 0.000723 |
| South Asian | 0.000530 | 0.000523 |
| Other | 0.000165 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Catalyzes the degradation of compounds such as putrescine, histamine, spermine, and spermidine, substances involved in allergic and immune responses, cell proliferation, tissue differentiation, tumor formation, and possibly apoptosis. Placental DAO is thought to play a role in the regulation of the female reproductive function.;
- Pathway
- Tryptophan metabolism - Homo sapiens (human);Arginine and proline metabolism - Homo sapiens (human);Histidine metabolism - Homo sapiens (human);Tyrosinemia, transient, of the newborn;Dopamine beta-hydroxylase deficiency;Disulfiram Action Pathway;Histidine Metabolism;Tyrosine Metabolism;Alkaptonuria;Monoamine oxidase-a deficiency (MAO-A);Hawkinsinuria;Tyrosinemia Type I;Histidinemia;Tryptophan metabolism;Neutrophil degranulation;Phase I - Functionalization of compounds;Glycine Serine metabolism;Tyrosine metabolism;Biological oxidations;Innate Immune System;Immune System;Metabolism;Phenylalanine degradation;Histidine metabolism;Urea cycle and metabolism of arginine, proline, glutamate, aspartate and asparagine;Arginine Proline metabolism;histamine degradation;Tryptophan degradation;Tyrosine metabolism;Histidine degradation;Glycine, serine, alanine and threonine metabolism
(Consensus)
Recessive Scores
- pRec
- 0.720
Intolerance Scores
- loftool
- rvis_EVS
- -0.59
- rvis_percentile_EVS
- 18.25
Haploinsufficiency Scores
- pHI
- 0.463
- hipred
- N
- hipred_score
- 0.170
- ghis
- 0.407
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- gene_indispensability_score
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | High | Medium | High |
| Cancer | High | High | High |
Mouse Genome Informatics
- Gene name
- Aoc1
- Phenotype
- behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); vision/eye phenotype; homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- xenobiotic metabolic process;amine metabolic process;cellular response to copper ion starvation;response to drug;neutrophil degranulation;response to antibiotic;oxidation-reduction process;cellular response to copper ion;cellular response to histamine;cellular response to heparin;cellular response to azide
- Cellular component
- extracellular region;extracellular space;peroxisome;plasma membrane;bicellular tight junction;specific granule lumen;extracellular exosome
- Molecular function
- copper ion binding;calcium ion binding;primary amine oxidase activity;drug binding;heparin binding;zinc ion binding;protein homodimerization activity;protein-containing complex binding;quinone binding;diamine oxidase activity;histamine oxidase activity;methylputrescine oxidase activity;propane-1,3-diamine oxidase activity