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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for HAAO |
 Gene summary |
| Gene information | Gene symbol | HAAO | Gene ID | 23498 |
| Gene name | 3-hydroxyanthranilate 3,4-dioxygenase | |
| Synonyms | 3-HAO|HAO|VCRL1|h3HAO | |
| Cytomap | 2p21 | |
| Type of gene | protein-coding | |
| Description | 3-hydroxyanthranilate 3,4-dioxygenase3-hydroxyanthranilate oxygenase3-hydroxyanthranilic acid dioxygenaseHAD | |
| Modification date | 20200313 | |
| UniProtAcc | C9IY88, P46952, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| HAAO | GO:0010043 | response to zinc ion | 12007609 |
| HAAO | GO:0019805 | quinolinate biosynthetic process | 28792876 |
| HAAO | GO:0046686 | response to cadmium ion | 12007609 |
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Gene structures and expression levels for HAAO |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000162882
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | DOWN | ENST00000406007.6 | HAAO-205:retained_intron:HAAO | 5.271321e+00 | -1.001590e+00 | 1.985199e-03 | 9.165203e-03 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for HAAO |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_101406 | chr2 | 42767860:42767928:42769713:42769858:42770143:42770186 | 42769713:42769858 |
| exon_skip_112237 | chr2 | 42767667:42767928:42769713:42769858:42770143:42770186 | 42769713:42769858 |
| exon_skip_129951 | chr2 | 42770143:42770186:42770493:42770582:42783314:42783420 | 42770493:42770582 |
| exon_skip_139595 | chr2 | 42788529:42788607:42789008:42789166:42792457:42792572 | 42789008:42789166 |
| exon_skip_43022 | chr2 | 42783314:42783420:42783784:42783867:42788529:42788607 | 42783784:42783867 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for HAAO |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000294973 | 42769713 | 42769858 | Frame-shift |
| ENST00000294973 | 42770493 | 42770582 | In-frame |
| ENST00000294973 | 42783784 | 42783867 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000294973 | 42769713 | 42769858 | Frame-shift |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000294973 | 42769713 | 42769858 | Frame-shift |
| ENST00000294973 | 42770493 | 42770582 | In-frame |
| ENST00000294973 | 42783784 | 42783867 | In-frame |
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Infer the effects of exon skipping event on protein functional features for HAAO |
p-ENSG00000162882_img4.png |
| Loci of skipped exons in ROSMAP 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 |
| ENST00000294973 | 1282 | 286 | 42783784 | 42783867 | 216 | 298 | 53 | 80 |
| ENST00000294973 | 1282 | 286 | 42770493 | 42770582 | 407 | 495 | 117 | 146 |
| Loci of skipped exons in MSBB 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 Mayo 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 |
| ENST00000294973 | 1282 | 286 | 42783784 | 42783867 | 216 | 298 | 53 | 80 |
| ENST00000294973 | 1282 | 286 | 42770493 | 42770582 | 407 | 495 | 117 | 146 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 |
| P46952 | 53 | 80 | 53 | 60 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2QNK |
| P46952 | 53 | 80 | 62 | 68 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2QNK |
| P46952 | 53 | 80 | 71 | 77 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2QNK |
| P46952 | 53 | 80 | 53 | 53 | Binding site | Note=Substrate;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03019 |
| P46952 | 53 | 80 | 1 | 286 | Chain | ID=PRO_0000064372;Note=3-hydroxyanthranilate 3%2C4-dioxygenase |
| P46952 | 53 | 80 | 53 | 53 | Metal binding | Note=Iron%3B catalytic;Ontology_term=ECO:0000244,ECO:0000255,ECO:0000269;evidence=ECO:0000244|PDB:5TK5,ECO:0000255|HAMAP-Rule:MF_03019,ECO:0000269|PubMed:28375145;Dbxref=PMID:28375145 |
| P46952 | 53 | 80 | 1 | 160 | Region | Note=Domain A (catalytic);Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03019 |
| P46952 | 117 | 146 | 114 | 120 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2QNK |
| P46952 | 117 | 146 | 123 | 132 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2QNK |
| P46952 | 117 | 146 | 1 | 286 | Chain | ID=PRO_0000064372;Note=3-hydroxyanthranilate 3%2C4-dioxygenase |
| P46952 | 117 | 146 | 137 | 149 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2QNK |
| P46952 | 117 | 146 | 1 | 160 | Region | Note=Domain A (catalytic);Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03019 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 Mayo. |
| 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 |
| P46952 | 53 | 80 | 53 | 60 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2QNK |
| P46952 | 53 | 80 | 62 | 68 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2QNK |
| P46952 | 53 | 80 | 71 | 77 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2QNK |
| P46952 | 53 | 80 | 53 | 53 | Binding site | Note=Substrate;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03019 |
| P46952 | 53 | 80 | 1 | 286 | Chain | ID=PRO_0000064372;Note=3-hydroxyanthranilate 3%2C4-dioxygenase |
| P46952 | 53 | 80 | 53 | 53 | Metal binding | Note=Iron%3B catalytic;Ontology_term=ECO:0000244,ECO:0000255,ECO:0000269;evidence=ECO:0000244|PDB:5TK5,ECO:0000255|HAMAP-Rule:MF_03019,ECO:0000269|PubMed:28375145;Dbxref=PMID:28375145 |
| P46952 | 53 | 80 | 1 | 160 | Region | Note=Domain A (catalytic);Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03019 |
| P46952 | 117 | 146 | 114 | 120 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2QNK |
| P46952 | 117 | 146 | 123 | 132 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2QNK |
| P46952 | 117 | 146 | 1 | 286 | Chain | ID=PRO_0000064372;Note=3-hydroxyanthranilate 3%2C4-dioxygenase |
| P46952 | 117 | 146 | 137 | 149 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2QNK |
| P46952 | 117 | 146 | 1 | 160 | Region | Note=Domain A (catalytic);Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03019 |
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3'-UTR located exon skipping events that lost miRNA binding sites in HAAO |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for HAAO |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for HAAO |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HAAO |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for HAAO |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for HAAO |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for HAAO |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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