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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 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 | 20180522 | |
| UniProtAcc | Q8N5Z0 | |
| Context | PubMed: AADAT [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 |
| 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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Exon skipping events across known transcript of Ensembl for AADAT 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 AADAT |
| 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 AADAT |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_433041 | 4 | 170983042:170983144:170985869:170985976:170987564:170987629 | 170985869:170985976 | ENSG00000109576.9 | ENST00000353187.2,ENST00000515480.1,ENST00000337664.4,ENST00000509167.1 |
| exon_skip_433043 | 4 | 170988477:170988539:170989741:170989838:170990298:170990381 | 170989741:170989838 | ENSG00000109576.9 | ENST00000353187.2,ENST00000515480.1,ENST00000337664.4,ENST00000509167.1 |
| exon_skip_433049 | 4 | 171010774:171010887:171011568:171011682:171012744:171012850 | 171011568:171011682 | ENSG00000109576.9 | ENST00000502392.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for AADAT |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_433041 | 4 | 170983042:170983144:170985869:170985976:170987564:170987629 | 170985869:170985976 | ENSG00000109576.9 | ENST00000337664.4,ENST00000509167.1,ENST00000515480.1,ENST00000353187.2 |
| exon_skip_433043 | 4 | 170988477:170988539:170989741:170989838:170990298:170990381 | 170989741:170989838 | ENSG00000109576.9 | ENST00000337664.4,ENST00000509167.1,ENST00000515480.1,ENST00000353187.2 |
| exon_skip_433049 | 4 | 171010774:171010887:171011568:171011682:171012744:171012850 | 171011568:171011682 | ENSG00000109576.9 | ENST00000502392.1 |
| 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 AADAT |
| 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 |
| ENST00000337664 | 170985869 | 170985976 | Frame-shift |
| ENST00000353187 | 170985869 | 170985976 | Frame-shift |
| ENST00000515480 | 170985869 | 170985976 | Frame-shift |
| ENST00000337664 | 170989741 | 170989838 | Frame-shift |
| ENST00000353187 | 170989741 | 170989838 | Frame-shift |
| ENST00000515480 | 170989741 | 170989838 | 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 |
| ENST00000337664 | 170985869 | 170985976 | Frame-shift |
| ENST00000353187 | 170985869 | 170985976 | Frame-shift |
| ENST00000515480 | 170985869 | 170985976 | Frame-shift |
| ENST00000337664 | 170989741 | 170989838 | Frame-shift |
| ENST00000353187 | 170989741 | 170989838 | Frame-shift |
| ENST00000515480 | 170989741 | 170989838 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for AADAT |
| 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 AADAT |
| - 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 |
| SKCM | TCGA-WE-A8K6-06 | exon_skip_433043 | 170989742 | 170989838 | 170989744 | 170989744 | Nonsense_Mutation | G | A | p.Q300* |
| HNSC | TCGA-CN-6011-01 | exon_skip_433043 | 170989742 | 170989838 | 170989840 | 170989840 | Splice_Site | T | G | p.G268_splice |
| - 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 |
| NB10_AUTONOMIC_GANGLIA | 170985870 | 170985976 | 170985919 | 170985919 | Missense_Mutation | C | T | p.G362D |
| CW2_LARGE_INTESTINE | 170985870 | 170985976 | 170985961 | 170985961 | Missense_Mutation | T | C | p.H348R |
| OVK18_OVARY | 170985870 | 170985976 | 170985963 | 170985963 | Nonsense_Mutation | C | T | p.W347* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AADAT |
| 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 AADAT |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AADAT |
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RelatedDrugs for AADAT |
| 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 |
| Q8N5Z0 | DB00114 | Pyridoxal phosphate | Kynurenine/alpha-aminoadipate aminotransferase, mitochondrial | small molecule | approved|investigational|nutraceutical | |
| Q8N5Z0 | DB00142 | Glutamic Acid | Kynurenine/alpha-aminoadipate aminotransferase, mitochondrial | small molecule | approved|nutraceutical |
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RelatedDiseases for AADAT |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| AADAT | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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