AOC3
Basic information
Region (hg38): 17:42851184-42858130
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (120 variants)
- not_provided (12 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the AOC3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000003734.4. 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 | 4 | |||||
missense | 113 | 10 | 127 | |||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 0 | 113 | 13 | 5 |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
AOC3 | protein_coding | protein_coding | ENST00000308423 | 4 | 6947 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
6.27e-11 | 0.632 | 125526 | 0 | 222 | 125748 | 0.000883 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.471 | 426 | 454 | 0.938 | 0.0000278 | 4933 |
Missense in Polyphen | 226 | 251.75 | 0.89773 | 2940 | ||
Synonymous | -1.87 | 226 | 193 | 1.17 | 0.0000119 | 1619 |
Loss of Function | 1.42 | 20 | 28.1 | 0.710 | 0.00000182 | 262 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00180 | 0.00176 |
Ashkenazi Jewish | 0.00170 | 0.00169 |
East Asian | 0.000926 | 0.000925 |
Finnish | 0.000554 | 0.000554 |
European (Non-Finnish) | 0.000977 | 0.000967 |
Middle Eastern | 0.000926 | 0.000925 |
South Asian | 0.000751 | 0.000752 |
Other | 0.000982 | 0.000978 |
dbNSFP
Source:
- Function
- FUNCTION: Cell adhesion protein that participates in lymphocyte extravasation and recirculation by mediating the binding of lymphocytes to peripheral lymph node vascular endothelial cells in an L-selectin-independent fashion. Has semicarbazide-sensitive (SSAO) monoamine oxidase activity. May play a role in adipogenesis. {ECO:0000269|PubMed:17400359, ECO:0000269|PubMed:19588076, ECO:0000269|PubMed:23349812, ECO:0000269|PubMed:9653080}.;
- Pathway
- beta-Alanine metabolism - Homo sapiens (human);Phenylalanine metabolism - Homo sapiens (human);Glycine, serine and threonine metabolism - Homo sapiens (human);Tyrosine metabolism - Homo sapiens (human);Carnosinuria, carnosinemia;Ureidopropionase deficiency;GABA-Transaminase Deficiency;Beta-Alanine Metabolism;Amino Acid metabolism;Phase I - Functionalization of compounds;Glycine Serine metabolism;Tyrosine metabolism;Biological oxidations;Metabolism;Phenylalanine degradation;Histidine metabolism;Tryptophan metabolism;Urea cycle and metabolism of arginine, proline, glutamate, aspartate and asparagine;Arginine Proline metabolism;phenylethylamine degradation I;Tryptophan degradation;Tyrosine metabolism;spermine and spermidine degradation I;Histidine degradation
(Consensus)
Recessive Scores
- pRec
- 0.202
Intolerance Scores
- loftool
- 0.930
- rvis_EVS
- 0.78
- rvis_percentile_EVS
- 87.26
Haploinsufficiency Scores
- pHI
- 0.104
- hipred
- N
- hipred_score
- 0.216
- ghis
- 0.494
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.740
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Aoc3
- Phenotype
- cellular phenotype; hematopoietic system phenotype; immune system phenotype;
Gene ontology
- Biological process
- xenobiotic metabolic process;inflammatory response;cell adhesion;amine metabolic process;response to antibiotic;oxidation-reduction process;negative regulation of primary amine oxidase activity
- Cellular component
- cytoplasm;early endosome;endoplasmic reticulum;Golgi apparatus;plasma membrane;microvillus;cell surface;integral component of membrane
- Molecular function
- copper ion binding;calcium ion binding;protein binding;primary amine oxidase activity;protein homodimerization activity;protein heterodimerization activity;quinone binding;tryptamine:oxygen oxidoreductase (deaminating) activity;aminoacetone:oxygen oxidoreductase(deaminating) activity;aliphatic-amine oxidase activity;phenethylamine:oxygen oxidoreductase (deaminating) activity