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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for AOC3 |
 Gene summary |
| Gene information | Gene symbol | AOC3 | Gene ID | 8639 |
| Gene name | amine oxidase, copper containing 3 | |
| Synonyms | HPAO|SSAO|VAP-1|VAP1 | |
| Cytomap | 17q21.31 | |
| Type of gene | protein-coding | |
| Description | membrane primary amine oxidaseamine oxidase, copper containing 3 (vascular adhesion protein 1)copper amine oxidaseplacenta copper monamine oxidasesemicarbazide-sensitive amine oxidase | |
| Modification date | 20180523 | |
| UniProtAcc | Q16853 | |
| Context | PubMed: AOC3 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| AOC3 | GO:0007155 | cell adhesion | 9653080 |
| AOC3 | GO:0009308 | amine metabolic process | 9653080 |
| AOC3 | GO:0046677 | response to antibiotic | 19764817 |
| AOC3 | GO:1902283 | negative regulation of primary amine oxidase activity | 23349812 |
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Exon skipping events across known transcript of Ensembl for AOC3 from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for AOC3 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for AOC3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_152871 | 17 | 41006553:41006750:41007460:41007590:41008291:41008318 | 41007460:41007590 | ENSG00000131471.2 | ENST00000308423.2,ENST00000587330.1,ENST00000591562.1,ENST00000592999.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for AOC3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_152871 | 17 | 41006553:41006750:41007460:41007590:41008291:41008318 | 41007460:41007590 | ENSG00000131471.2 | ENST00000308423.2,ENST00000587330.1,ENST00000592999.1,ENST00000591562.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for AOC3 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000308423 | 41007460 | 41007590 | Frame-shift |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000308423 | 41007460 | 41007590 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for AOC3 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
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SNVs in the skipped exons for AOC3 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| BLCA | TCGA-XF-AAMX-01 | exon_skip_152871 | 41007461 | 41007590 | 41007535 | 41007535 | Frame_Shift_Del | G | - | p.W654fs |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| CCK81_LARGE_INTESTINE | 41007461 | 41007590 | 41007533 | 41007533 | Frame_Shift_Del | T | - | p.P653fs |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 41007461 | 41007590 | 41007497 | 41007497 | Missense_Mutation | G | T | p.E641D |
| SW900_LUNG | 41007461 | 41007590 | 41007512 | 41007512 | Missense_Mutation | C | A | p.S646R |
| NCIH1623_LUNG | 41007461 | 41007590 | 41007524 | 41007524 | Missense_Mutation | G | T | p.Q650H |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 41007461 | 41007590 | 41007529 | 41007529 | Missense_Mutation | A | C | p.D652A |
| NCIH1339_LUNG | 41007461 | 41007590 | 41007564 | 41007564 | Missense_Mutation | A | T | p.I664F |
| 2313287_STOMACH | 41007461 | 41007590 | 41007536 | 41007536 | Nonsense_Mutation | G | A | p.W654* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AOC3 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AOC3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AOC3 |
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RelatedDrugs for AOC3 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Q16853 | DB00780 | Phenelzine | Membrane primary amine oxidase | small molecule | approved | |
| Q16853 | DB01275 | Hydralazine | Membrane primary amine oxidase | small molecule | approved |
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RelatedDiseases for AOC3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| AOC3 | C0011849 | Diabetes Mellitus | 1 | CTD_human |
| AOC3 | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
| AOC3 | C0011881 | Diabetic Nephropathy | 1 | CTD_human |
| AOC3 | C0020538 | Hypertensive disease | 1 | CTD_human |
| AOC3 | C0030524 | Paratuberculosis | 1 | CTD_human |
| AOC3 | C0403447 | Chronic Kidney Insufficiency | 1 | CTD_human |
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