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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for AADAT |
Gene summary |
Gene information | Gene symbol | AADAT | Gene ID | 51166 |
Gene name | aminoadipate aminotransferase | |
Synonyms | KAT2|KATII|KYAT2 | |
Cytomap | 4q33 | |
Type of gene | protein-coding | |
Description | kynurenine/alpha-aminoadipate aminotransferase, mitochondrial2-aminoadipate aminotransferase2-aminoadipate transaminaseKAT/AadATL kynurenine/alpha aminoadipate aminotransferasealpha-aminoadipate aminotransferasekynurenine aminotransferase IIkynuren | |
Modification date | 20200313 | |
UniProtAcc | ||
Context |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
AADAT | GO:0006103 | 2-oxoglutarate metabolic process | 18620547 |
AADAT | GO:0006536 | glutamate metabolic process | 18620547 |
AADAT | GO:0070189 | kynurenine metabolic process | 18620547 |
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Gene structures and expression levels for AADAT |
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. |
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. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
CB | DOWN | ENST00000353187.6 | AADAT-202:protein_coding:AADAT | 2.364319e+01 | -1.093286e+00 | 3.894327e-03 | 1.599912e-02 |
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 AADAT |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_20614 | chr4 | 170073250:170073345:170078509:170078583:170087116:170087248 | 170078509:170078583 |
exon_skip_280506 | chr4 | 170061892:170061993:170064719:170064825:170066414:170066478 | 170064719:170064825 |
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 AADAT |
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 |
ENST00000337664 | 170064719 | 170064825 | Frame-shift |
ENST00000353187 | 170064719 | 170064825 | Frame-shift |
ENST00000515480 | 170064719 | 170064825 | Frame-shift |
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 |
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 |
ENST00000337664 | 170064719 | 170064825 | Frame-shift |
ENST00000353187 | 170064719 | 170064825 | Frame-shift |
ENST00000515480 | 170064719 | 170064825 | Frame-shift |
ENST00000337664 | 170078509 | 170078583 | In-frame |
ENST00000353187 | 170078509 | 170078583 | In-frame |
ENST00000515480 | 170078509 | 170078583 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AADAT |
p-ENSG00000109576_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 |
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 |
ENST00000337664 | 2278 | 425 | 170078509 | 170078583 | 647 | 720 | 123 | 147 |
ENST00000353187 | 2118 | 425 | 170078509 | 170078583 | 494 | 567 | 123 | 147 |
ENST00000515480 | 2210 | 425 | 170078509 | 170078583 | 579 | 652 | 123 | 147 |
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 |
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 |
Q8N5Z0 | 123 | 147 | 134 | 137 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6D0A |
Q8N5Z0 | 123 | 147 | 134 | 137 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6D0A |
Q8N5Z0 | 123 | 147 | 134 | 137 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6D0A |
Q8N5Z0 | 123 | 147 | 142 | 142 | Binding site | Note=Substrate |
Q8N5Z0 | 123 | 147 | 142 | 142 | Binding site | Note=Substrate |
Q8N5Z0 | 123 | 147 | 142 | 142 | Binding site | Note=Substrate |
Q8N5Z0 | 123 | 147 | 30 | 425 | Chain | ID=PRO_0000020602;Note=Kynurenine/alpha-aminoadipate aminotransferase%2C mitochondrial |
Q8N5Z0 | 123 | 147 | 30 | 425 | Chain | ID=PRO_0000020602;Note=Kynurenine/alpha-aminoadipate aminotransferase%2C mitochondrial |
Q8N5Z0 | 123 | 147 | 30 | 425 | Chain | ID=PRO_0000020602;Note=Kynurenine/alpha-aminoadipate aminotransferase%2C mitochondrial |
Q8N5Z0 | 123 | 147 | 117 | 128 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6D0A |
Q8N5Z0 | 123 | 147 | 117 | 128 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6D0A |
Q8N5Z0 | 123 | 147 | 117 | 128 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6D0A |
Q8N5Z0 | 123 | 147 | 143 | 149 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6D0A |
Q8N5Z0 | 123 | 147 | 143 | 149 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6D0A |
Q8N5Z0 | 123 | 147 | 143 | 149 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6D0A |
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3'-UTR located exon skipping events that lost miRNA binding sites in AADAT |
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 AADAT |
- 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 AADAT |
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 AADAT |
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 AADAT |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for AADAT |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Q8N5Z0 | approved|investigational|nutraceutical | DB00114 | Pyridoxal phosphate | small molecule | Q8N5Z0 |
Q8N5Z0 | approved|nutraceutical | DB00142 | Glutamic Acid | small molecule | Q8N5Z0 |
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RelatedDiseases for AADAT |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |