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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 ABAT |
 Gene summary |
| Gene information | Gene symbol | ABAT | Gene ID | 18 |
| Gene name | 4-aminobutyrate aminotransferase | |
| Synonyms | GABA-AT|GABAT|NPD009 | |
| Cytomap | 16p13.2 | |
| Type of gene | protein-coding | |
| Description | 4-aminobutyrate aminotransferase, mitochondrial(S)-3-amino-2-methylpropionate transaminase4-aminobutyrate transaminaseGABA aminotransferaseGABA transaminaseGABA transferasegamma-amino-N-butyrate transaminase | |
| Modification date | 20180523 | |
| UniProtAcc | P80404 | |
| Context | PubMed: ABAT [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 |
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Exon skipping events across known transcript of Ensembl for ABAT 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 ABAT |
| 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 ABAT |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_133243 | 16 | 8768473:8768568:8816623:8816699:8829555:8829666 | 8816623:8816699 | ENSG00000183044.7 | ENST00000564714.1 |
| exon_skip_133250 | 16 | 8806811:8806919:8807475:8807722:8829555:8829666 | 8807475:8807722 | ENSG00000183044.7 | ENST00000561870.1 |
| exon_skip_133254 | 16 | 8807475:8807722:8829555:8829666:8839857:8839882 | 8829555:8829666 | ENSG00000183044.7 | ENST00000561870.1,ENST00000396600.2,ENST00000568847.1 |
| exon_skip_133257 | 16 | 8814678:8814791:8829555:8829666:8839857:8839882 | 8829555:8829666 | ENSG00000183044.7 | ENST00000425191.2,ENST00000562115.1,ENST00000569156.1 |
| exon_skip_133258 | 16 | 8829555:8829666:8832299:8832311:8839857:8839955 | 8832299:8832311 | ENSG00000183044.7 | ENST00000565016.1 |
| exon_skip_133259 | 16 | 8829555:8829666:8839857:8839955:8841964:8841992 | 8839857:8839955 | ENSG00000183044.7 | ENST00000425191.2,ENST00000561870.1,ENST00000567812.1,ENST00000396600.2,ENST00000562115.1,ENST00000268251.8,ENST00000569156.1,ENST00000564714.1 |
| exon_skip_133264 | 16 | 8841964:8841994:8844278:8844396:8851613:8851661 | 8844278:8844396 | ENSG00000183044.7 | ENST00000425191.2,ENST00000567812.1,ENST00000396600.2,ENST00000565671.1,ENST00000268251.8,ENST00000569156.1,ENST00000566590.1 |
| exon_skip_133266 | 16 | 8844278:8844396:8851051:8851167:8851613:8851661 | 8851051:8851167 | ENSG00000183044.7 | ENST00000562115.1 |
| exon_skip_133267 | 16 | 8844278:8844396:8851613:8851663:8857925:8858006 | 8851613:8851663 | ENSG00000183044.7 | ENST00000425191.2,ENST00000567812.1,ENST00000396600.2,ENST00000268251.8,ENST00000569156.1,ENST00000566590.1 |
| exon_skip_133269 | 16 | 8857925:8858006:8858594:8858687:8860064:8860127 | 8858594:8858687 | ENSG00000183044.7 | ENST00000425191.2,ENST00000567812.1,ENST00000396600.2,ENST00000268251.8,ENST00000569156.1,ENST00000566590.1 |
| exon_skip_133270 | 16 | 8858594:8858687:8860064:8860127:8862049:8862113 | 8860064:8860127 | ENSG00000183044.7 | ENST00000425191.2,ENST00000567812.1,ENST00000396600.2,ENST00000268251.8,ENST00000569156.1,ENST00000566590.1 |
| exon_skip_133271 | 16 | 8870200:8870347:8873335:8873447:8875165:8875388 | 8873335:8873447 | ENSG00000183044.7 | ENST00000425191.2,ENST00000567812.1,ENST00000396600.2,ENST00000268251.8,ENST00000566590.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ABAT |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_133243 | 16 | 8768473:8768568:8816623:8816699:8829555:8829666 | 8816623:8816699 | ENSG00000183044.7 | ENST00000564714.1 |
| exon_skip_133250 | 16 | 8806811:8806919:8807475:8807722:8829555:8829666 | 8807475:8807722 | ENSG00000183044.7 | ENST00000561870.1 |
| exon_skip_133254 | 16 | 8807475:8807722:8829555:8829666:8839857:8839882 | 8829555:8829666 | ENSG00000183044.7 | ENST00000568847.1,ENST00000561870.1,ENST00000396600.2 |
| exon_skip_133257 | 16 | 8814678:8814791:8829555:8829666:8839857:8839882 | 8829555:8829666 | ENSG00000183044.7 | ENST00000425191.2,ENST00000569156.1,ENST00000562115.1 |
| exon_skip_133258 | 16 | 8829555:8829666:8832299:8832311:8839857:8839955 | 8832299:8832311 | ENSG00000183044.7 | ENST00000565016.1 |
| exon_skip_133259 | 16 | 8829555:8829666:8839857:8839955:8841964:8841992 | 8839857:8839955 | ENSG00000183044.7 | ENST00000268251.8,ENST00000564714.1,ENST00000561870.1,ENST00000396600.2,ENST00000567812.1,ENST00000425191.2,ENST00000569156.1,ENST00000562115.1 |
| exon_skip_133264 | 16 | 8841964:8841994:8844278:8844396:8851613:8851661 | 8844278:8844396 | ENSG00000183044.7 | ENST00000268251.8,ENST00000396600.2,ENST00000566590.1,ENST00000567812.1,ENST00000425191.2,ENST00000569156.1,ENST00000565671.1 |
| exon_skip_133266 | 16 | 8844278:8844396:8851051:8851167:8851613:8851661 | 8851051:8851167 | ENSG00000183044.7 | ENST00000562115.1 |
| exon_skip_133267 | 16 | 8844278:8844396:8851613:8851663:8857925:8858006 | 8851613:8851663 | ENSG00000183044.7 | ENST00000268251.8,ENST00000396600.2,ENST00000566590.1,ENST00000567812.1,ENST00000425191.2,ENST00000569156.1 |
| exon_skip_133269 | 16 | 8857925:8858006:8858594:8858687:8860064:8860127 | 8858594:8858687 | ENSG00000183044.7 | ENST00000268251.8,ENST00000396600.2,ENST00000566590.1,ENST00000567812.1,ENST00000425191.2,ENST00000569156.1 |
| exon_skip_133270 | 16 | 8858594:8858687:8860064:8860127:8862049:8862113 | 8860064:8860127 | ENSG00000183044.7 | ENST00000268251.8,ENST00000396600.2,ENST00000566590.1,ENST00000567812.1,ENST00000425191.2,ENST00000569156.1 |
| exon_skip_133271 | 16 | 8870200:8870347:8873335:8873447:8875165:8875388 | 8873335:8873447 | ENSG00000183044.7 | ENST00000268251.8,ENST00000396600.2,ENST00000566590.1,ENST00000567812.1,ENST00000425191.2 |
| 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 ABAT |
| 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 |
| ENST00000396600 | 8829555 | 8829666 | 5CDS-5UTR |
| ENST00000425191 | 8829555 | 8829666 | 5CDS-5UTR |
| ENST00000268251 | 8839857 | 8839955 | Frame-shift |
| ENST00000396600 | 8839857 | 8839955 | Frame-shift |
| ENST00000425191 | 8839857 | 8839955 | Frame-shift |
| ENST00000268251 | 8844278 | 8844396 | Frame-shift |
| ENST00000396600 | 8844278 | 8844396 | Frame-shift |
| ENST00000425191 | 8844278 | 8844396 | Frame-shift |
| ENST00000268251 | 8851613 | 8851663 | Frame-shift |
| ENST00000396600 | 8851613 | 8851663 | Frame-shift |
| ENST00000425191 | 8851613 | 8851663 | Frame-shift |
| ENST00000268251 | 8873335 | 8873447 | Frame-shift |
| ENST00000396600 | 8873335 | 8873447 | Frame-shift |
| ENST00000425191 | 8873335 | 8873447 | Frame-shift |
| ENST00000268251 | 8858594 | 8858687 | In-frame |
| ENST00000396600 | 8858594 | 8858687 | In-frame |
| ENST00000425191 | 8858594 | 8858687 | In-frame |
| ENST00000268251 | 8860064 | 8860127 | In-frame |
| ENST00000396600 | 8860064 | 8860127 | In-frame |
| ENST00000425191 | 8860064 | 8860127 | In-frame |
| 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 |
| ENST00000396600 | 8829555 | 8829666 | 5CDS-5UTR |
| ENST00000425191 | 8829555 | 8829666 | 5CDS-5UTR |
| ENST00000268251 | 8839857 | 8839955 | Frame-shift |
| ENST00000396600 | 8839857 | 8839955 | Frame-shift |
| ENST00000425191 | 8839857 | 8839955 | Frame-shift |
| ENST00000268251 | 8844278 | 8844396 | Frame-shift |
| ENST00000396600 | 8844278 | 8844396 | Frame-shift |
| ENST00000425191 | 8844278 | 8844396 | Frame-shift |
| ENST00000268251 | 8851613 | 8851663 | Frame-shift |
| ENST00000396600 | 8851613 | 8851663 | Frame-shift |
| ENST00000425191 | 8851613 | 8851663 | Frame-shift |
| ENST00000268251 | 8873335 | 8873447 | Frame-shift |
| ENST00000396600 | 8873335 | 8873447 | Frame-shift |
| ENST00000425191 | 8873335 | 8873447 | Frame-shift |
| ENST00000268251 | 8858594 | 8858687 | In-frame |
| ENST00000396600 | 8858594 | 8858687 | In-frame |
| ENST00000425191 | 8858594 | 8858687 | In-frame |
| ENST00000268251 | 8860064 | 8860127 | In-frame |
| ENST00000396600 | 8860064 | 8860127 | In-frame |
| ENST00000425191 | 8860064 | 8860127 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ABAT |
| 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 |
| ENST00000268251 | 4853 | 500 | 8858594 | 8858687 | 636 | 728 | 149 | 180 |
| ENST00000396600 | 5603 | 500 | 8858594 | 8858687 | 1386 | 1478 | 149 | 180 |
| ENST00000425191 | 1940 | 500 | 8858594 | 8858687 | 708 | 800 | 149 | 180 |
| ENST00000268251 | 4853 | 500 | 8860064 | 8860127 | 729 | 791 | 180 | 201 |
| ENST00000396600 | 5603 | 500 | 8860064 | 8860127 | 1479 | 1541 | 180 | 201 |
| ENST00000425191 | 1940 | 500 | 8860064 | 8860127 | 801 | 863 | 180 | 201 |
| 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 |
| ENST00000268251 | 4853 | 500 | 8858594 | 8858687 | 636 | 728 | 149 | 180 |
| ENST00000396600 | 5603 | 500 | 8858594 | 8858687 | 1386 | 1478 | 149 | 180 |
| ENST00000425191 | 1940 | 500 | 8858594 | 8858687 | 708 | 800 | 149 | 180 |
| ENST00000268251 | 4853 | 500 | 8860064 | 8860127 | 729 | 791 | 180 | 201 |
| ENST00000396600 | 5603 | 500 | 8860064 | 8860127 | 1479 | 1541 | 180 | 201 |
| ENST00000425191 | 1940 | 500 | 8860064 | 8860127 | 801 | 863 | 180 | 201 |
| 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 |
| P80404 | 149 | 180 | 29 | 500 | Chain | ID=PRO_0000001249;Note=4-aminobutyrate aminotransferase%2C mitochondrial |
| P80404 | 149 | 180 | 29 | 500 | Chain | ID=PRO_0000001249;Note=4-aminobutyrate aminotransferase%2C mitochondrial |
| P80404 | 149 | 180 | 29 | 500 | Chain | ID=PRO_0000001249;Note=4-aminobutyrate aminotransferase%2C mitochondrial |
| P80404 | 149 | 180 | 163 | 163 | Metal binding | Note=Iron-sulfur (2Fe-2S)%3B shared with dimeric partner;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P80147 |
| P80404 | 149 | 180 | 163 | 163 | Metal binding | Note=Iron-sulfur (2Fe-2S)%3B shared with dimeric partner;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P80147 |
| P80404 | 149 | 180 | 163 | 163 | Metal binding | Note=Iron-sulfur (2Fe-2S)%3B shared with dimeric partner;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P80147 |
| P80404 | 149 | 180 | 166 | 166 | Metal binding | Note=Iron-sulfur (2Fe-2S)%3B shared with dimeric partner;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P80147 |
| P80404 | 149 | 180 | 166 | 166 | Metal binding | Note=Iron-sulfur (2Fe-2S)%3B shared with dimeric partner;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P80147 |
| P80404 | 149 | 180 | 166 | 166 | Metal binding | Note=Iron-sulfur (2Fe-2S)%3B shared with dimeric partner;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P80147 |
| P80404 | 149 | 180 | 164 | 165 | Region | Note=Pyridoxal phosphate binding;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P80147 |
| P80404 | 149 | 180 | 164 | 165 | Region | Note=Pyridoxal phosphate binding;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P80147 |
| P80404 | 149 | 180 | 164 | 165 | Region | Note=Pyridoxal phosphate binding;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P80147 |
| P80404 | 149 | 180 | 155 | 171 | Sequence conflict | Note=MSQLITMACGSCSNENA->CPSSSPWPACPAPMKTT;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P80404 | 149 | 180 | 155 | 171 | Sequence conflict | Note=MSQLITMACGSCSNENA->CPSSSPWPACPAPMKTT;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P80404 | 149 | 180 | 155 | 171 | Sequence conflict | Note=MSQLITMACGSCSNENA->CPSSSPWPACPAPMKTT;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P80404 | 180 | 201 | 29 | 500 | Chain | ID=PRO_0000001249;Note=4-aminobutyrate aminotransferase%2C mitochondrial |
| P80404 | 180 | 201 | 29 | 500 | Chain | ID=PRO_0000001249;Note=4-aminobutyrate aminotransferase%2C mitochondrial |
| P80404 | 180 | 201 | 29 | 500 | Chain | ID=PRO_0000001249;Note=4-aminobutyrate aminotransferase%2C mitochondrial |
| P80404 | 180 | 201 | 191 | 191 | Sequence conflict | Note=Q->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P80404 | 180 | 201 | 191 | 191 | Sequence conflict | Note=Q->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P80404 | 180 | 201 | 191 | 191 | Sequence conflict | Note=Q->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| P80404 | 149 | 180 | 29 | 500 | Chain | ID=PRO_0000001249;Note=4-aminobutyrate aminotransferase%2C mitochondrial |
| P80404 | 149 | 180 | 29 | 500 | Chain | ID=PRO_0000001249;Note=4-aminobutyrate aminotransferase%2C mitochondrial |
| P80404 | 149 | 180 | 29 | 500 | Chain | ID=PRO_0000001249;Note=4-aminobutyrate aminotransferase%2C mitochondrial |
| P80404 | 149 | 180 | 163 | 163 | Metal binding | Note=Iron-sulfur (2Fe-2S)%3B shared with dimeric partner;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P80147 |
| P80404 | 149 | 180 | 163 | 163 | Metal binding | Note=Iron-sulfur (2Fe-2S)%3B shared with dimeric partner;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P80147 |
| P80404 | 149 | 180 | 163 | 163 | Metal binding | Note=Iron-sulfur (2Fe-2S)%3B shared with dimeric partner;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P80147 |
| P80404 | 149 | 180 | 166 | 166 | Metal binding | Note=Iron-sulfur (2Fe-2S)%3B shared with dimeric partner;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P80147 |
| P80404 | 149 | 180 | 166 | 166 | Metal binding | Note=Iron-sulfur (2Fe-2S)%3B shared with dimeric partner;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P80147 |
| P80404 | 149 | 180 | 166 | 166 | Metal binding | Note=Iron-sulfur (2Fe-2S)%3B shared with dimeric partner;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P80147 |
| P80404 | 149 | 180 | 164 | 165 | Region | Note=Pyridoxal phosphate binding;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P80147 |
| P80404 | 149 | 180 | 164 | 165 | Region | Note=Pyridoxal phosphate binding;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P80147 |
| P80404 | 149 | 180 | 164 | 165 | Region | Note=Pyridoxal phosphate binding;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P80147 |
| P80404 | 149 | 180 | 155 | 171 | Sequence conflict | Note=MSQLITMACGSCSNENA->CPSSSPWPACPAPMKTT;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P80404 | 149 | 180 | 155 | 171 | Sequence conflict | Note=MSQLITMACGSCSNENA->CPSSSPWPACPAPMKTT;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P80404 | 149 | 180 | 155 | 171 | Sequence conflict | Note=MSQLITMACGSCSNENA->CPSSSPWPACPAPMKTT;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P80404 | 180 | 201 | 29 | 500 | Chain | ID=PRO_0000001249;Note=4-aminobutyrate aminotransferase%2C mitochondrial |
| P80404 | 180 | 201 | 29 | 500 | Chain | ID=PRO_0000001249;Note=4-aminobutyrate aminotransferase%2C mitochondrial |
| P80404 | 180 | 201 | 29 | 500 | Chain | ID=PRO_0000001249;Note=4-aminobutyrate aminotransferase%2C mitochondrial |
| P80404 | 180 | 201 | 191 | 191 | Sequence conflict | Note=Q->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P80404 | 180 | 201 | 191 | 191 | Sequence conflict | Note=Q->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P80404 | 180 | 201 | 191 | 191 | Sequence conflict | Note=Q->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for ABAT |
| - 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 |
| COAD | TCGA-G4-6588-01 | exon_skip_133264 | 8844279 | 8844396 | 8844296 | 8844296 | Frame_Shift_Del | T | - | p.H72fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_133264 | 8844279 | 8844396 | 8844371 | 8844371 | Frame_Shift_Del | T | - | p.Y97fs |
| LUAD | TCGA-05-4244-01 | exon_skip_133264 | 8844279 | 8844396 | 8844285 | 8844285 | Nonsense_Mutation | G | T | p.E69* |
| SKCM | TCGA-D3-A8GM-06 | exon_skip_133269 | 8858595 | 8858687 | 8858680 | 8858680 | Nonsense_Mutation | G | A | p.W178* |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_133271 | 8873336 | 8873447 | 8873372 | 8873372 | Nonsense_Mutation | C | T | p.R436* |
| LUSC | TCGA-22-5478-01 | exon_skip_133254 exon_skip_133257 | 8829556 | 8829666 | 8829667 | 8829667 | Splice_Site | G | T | p.G24_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 |
| KATOIII_STOMACH | 8829556 | 8829666 | 8829604 | 8829604 | Missense_Mutation | C | T | p.S3F |
| SW684_SOFT_TISSUE | 8829556 | 8829666 | 8829618 | 8829618 | Missense_Mutation | C | G | p.Q8E |
| MDAMB453_BREAST | 8839858 | 8839955 | 8839896 | 8839896 | Missense_Mutation | G | C | p.V37L |
| COLO783_SKIN | 8839858 | 8839955 | 8839933 | 8839933 | Missense_Mutation | A | T | p.E49V |
| SF268_CENTRAL_NERVOUS_SYSTEM | 8844279 | 8844396 | 8844294 | 8844294 | Missense_Mutation | C | A | p.H72N |
| GMEL_SKIN | 8844279 | 8844396 | 8844302 | 8844302 | Missense_Mutation | C | A | p.F74L |
| SKMEL31_SKIN | 8844279 | 8844396 | 8844312 | 8844312 | Missense_Mutation | G | A | p.E78K |
| HS944T_SKIN | 8844279 | 8844396 | 8844312 | 8844312 | Missense_Mutation | G | A | p.E78K |
| MET2B | 8844279 | 8844396 | 8844312 | 8844312 | Missense_Mutation | G | A | p.E78K |
| HEC251_ENDOMETRIUM | 8858595 | 8858687 | 8858601 | 8858601 | Missense_Mutation | C | T | p.P152S |
| JHUEM7_ENDOMETRIUM | 8858595 | 8858687 | 8858657 | 8858657 | Missense_Mutation | C | A | p.N170K |
| VMRCLCD_LUNG | 8860065 | 8860127 | 8860098 | 8860098 | Missense_Mutation | G | C | p.E192Q |
| TT_OESOPHAGUS | 8860065 | 8860127 | 8860116 | 8860116 | Missense_Mutation | A | G | p.M198V |
| RKO_LARGE_INTESTINE | 8873336 | 8873447 | 8873343 | 8873343 | Missense_Mutation | A | G | p.Y426C |
| SCH_STOMACH | 8873336 | 8873447 | 8873379 | 8873379 | Missense_Mutation | C | T | p.T438I |
| SNU1040_LARGE_INTESTINE | 8873336 | 8873447 | 8873414 | 8873414 | Missense_Mutation | C | T | p.R450W |
| CW2_LARGE_INTESTINE | 8873336 | 8873447 | 8873423 | 8873423 | Missense_Mutation | C | T | p.L453F |
| GCT_SOFT_TISSUE | 8844279 | 8844396 | 8844374 | 8844375 | Nonsense_Mutation | CC | TT | p.Q99* |
| MCC26_SKIN | 8829556 | 8829666 | 8829666 | 8829667 | Splice_Site | GG | AA | p.G24K |
| MCC26_SKIN | 8829556 | 8829666 | 8829666 | 8829666 | Splice_Site | G | A | p.G24R |
| SNU324_PANCREAS | 8851614 | 8851663 | 8851662 | 8851662 | Splice_Site | C | T | p.A122V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ABAT |
| 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 ABAT |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ABAT |
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RelatedDrugs for ABAT |
| 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 |
| P80404 | DB00780 | Phenelzine | 4-aminobutyrate aminotransferase, mitochondrial | small molecule | approved | |
| P80404 | DB01080 | Vigabatrin | 4-aminobutyrate aminotransferase, mitochondrial | small molecule | approved | |
| P80404 | DB00313 | Valproic Acid | 4-aminobutyrate aminotransferase, mitochondrial | small molecule | approved|investigational | |
| P80404 | DB00114 | Pyridoxal phosphate | 4-aminobutyrate aminotransferase, mitochondrial | small molecule | approved|investigational|nutraceutical | |
| P80404 | DB00142 | Glutamic Acid | 4-aminobutyrate aminotransferase, mitochondrial | small molecule | approved|nutraceutical |
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RelatedDiseases for ABAT |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ABAT | C0004352 | Autistic Disorder | 1 | CTD_human |
| ABAT | C0017168 | Gastroesophageal reflux disease | 1 | CTD_human |
| ABAT | C0023380 | Lethargy | 1 | CTD_human;HPO |
| ABAT | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| ABAT | C0026827 | Muscle hypotonia | 1 | CTD_human |
| ABAT | C0033922 | Psychomotor Disorders | 1 | CTD_human |
| ABAT | C0034933 | Reflex, Abnormal | 1 | CTD_human |
| ABAT | C0036572 | Seizures | 1 | CTD_human;HPO |
| ABAT | C0342708 | Gamma aminobutyric acid transaminase deficiency | 1 | CTD_human;ORPHANET;UNIPROT |
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