|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for ACSM2A |
 Gene summary |
| Gene information | Gene symbol | ACSM2A | Gene ID | 123876 |
| Gene name | acyl-CoA synthetase medium chain family member 2A | |
| Synonyms | A-923A4.1|ACSM2 | |
| Cytomap | 16p12.3 | |
| Type of gene | protein-coding | |
| Description | acyl-coenzyme A synthetase ACSM2A, mitochondrialacyl-CoA synthetase medium-chain family member 2butyrate--CoA ligase 2Abutyryl-coenzyme A synthetase 2Amiddle-chain acyl-CoA synthetase 2A | |
| Modification date | 20180523 | |
| UniProtAcc | Q08AH3 | |
| Context | PubMed: ACSM2A [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 |
| ACSM2A | GO:0036112 | medium-chain fatty-acyl-CoA metabolic process | 19345228 |
Top |
Exon skipping events across known transcript of Ensembl for ACSM2A 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. |
 |
Top |
Gene isoform structures and expression levels for ACSM2A |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for ACSM2A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_134224 | 16 | 20462932:20463003:20463406:20463788:20471428:20471613 | 20463406:20463788 | ENSG00000183747.7 | ENST00000575690.1 |
| exon_skip_134230 | 16 | 20462932:20463003:20463660:20463788:20471428:20471613 | 20463660:20463788 | ENSG00000183747.7 | ENST00000571894.1 |
| exon_skip_134233 | 16 | 20462932:20463003:20463702:20463788:20464564:20465207 | 20463702:20463788 | ENSG00000183747.7 | ENST00000571204.1 |
| exon_skip_134234 | 16 | 20462932:20463003:20463702:20463788:20471428:20471613 | 20463702:20463788 | ENSG00000183747.7 | ENST00000576361.1 |
| exon_skip_134242 | 16 | 20462932:20463003:20463753:20463788:20471428:20471613 | 20463753:20463788 | ENSG00000183747.7 | ENST00000219054.6 |
| exon_skip_134246 | 16 | 20462932:20463003:20471428:20471613:20476838:20476978 | 20471428:20471613 | ENSG00000183747.7 | ENST00000536134.1,ENST00000424070.1,ENST00000574692.1,ENST00000573854.1,ENST00000570698.1 |
| exon_skip_134253 | 16 | 20462932:20463003:20476838:20477049:20480833:20480867 | 20476838:20477049 | ENSG00000183747.7 | ENST00000575558.1,ENST00000417235.2 |
| exon_skip_134256 | 16 | 20463753:20463788:20471428:20471613:20476838:20476978 | 20471428:20471613 | ENSG00000183747.7 | ENST00000575690.1,ENST00000219054.6,ENST00000571894.1,ENST00000576361.1 |
| exon_skip_134263 | 16 | 20471428:20471613:20476838:20477049:20480833:20480867 | 20476838:20477049 | ENSG00000183747.7 | ENST00000536134.1,ENST00000575690.1,ENST00000424070.1,ENST00000219054.6,ENST00000574692.1,ENST00000573854.1,ENST00000570698.1,ENST00000396104.2 |
| exon_skip_134267 | 16 | 20480888:20481041:20482137:20482280:20482394:20482432 | 20482137:20482280 | ENSG00000183747.7 | ENST00000574692.1 |
| exon_skip_134268 | 16 | 20480833:20481041:20482394:20482538:20482857:20482907 | 20482394:20482538 | ENSG00000183747.7 | ENST00000575690.1,ENST00000575558.1,ENST00000219054.6,ENST00000417235.2,ENST00000573854.1,ENST00000570698.1,ENST00000396104.2 |
| exon_skip_134277 | 16 | 20482521:20482538:20482857:20483011:20486683:20486763 | 20482857:20483011 | ENSG00000183747.7 | ENST00000536134.1,ENST00000575690.1,ENST00000575558.1,ENST00000219054.6,ENST00000574692.1,ENST00000417235.2,ENST00000573854.1,ENST00000570698.1,ENST00000396104.2 |
| exon_skip_134282 | 16 | 20486683:20486763:20486971:20487095:20488690:20488771 | 20486971:20487095 | ENSG00000183747.7 | ENST00000536134.1,ENST00000575690.1,ENST00000575558.1,ENST00000219054.6,ENST00000417235.2,ENST00000573854.1,ENST00000570698.1,ENST00000396104.2 |
| exon_skip_134288 | 16 | 20488690:20488771:20489897:20489999:20491894:20492022 | 20489897:20489999 | ENSG00000183747.7 | ENST00000536134.1,ENST00000575690.1,ENST00000575558.1,ENST00000219054.6,ENST00000572843.1,ENST00000417235.2,ENST00000573854.1,ENST00000570698.1,ENST00000576101.1,ENST00000396104.2 |
| exon_skip_134294 | 16 | 20491894:20492022:20492143:20492243:20494379:20494499 | 20492143:20492243 | ENSG00000183747.7 | ENST00000536134.1,ENST00000575690.1,ENST00000219054.6,ENST00000572843.1,ENST00000417235.2,ENST00000573854.1,ENST00000396104.2 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for ACSM2A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_134224 | 16 | 20462932:20463003:20463406:20463788:20471428:20471613 | 20463406:20463788 | ENSG00000183747.7 | ENST00000575690.1 |
| exon_skip_134230 | 16 | 20462932:20463003:20463660:20463788:20471428:20471613 | 20463660:20463788 | ENSG00000183747.7 | ENST00000571894.1 |
| exon_skip_134233 | 16 | 20462932:20463003:20463702:20463788:20464564:20465207 | 20463702:20463788 | ENSG00000183747.7 | ENST00000571204.1 |
| exon_skip_134234 | 16 | 20462932:20463003:20463702:20463788:20471428:20471613 | 20463702:20463788 | ENSG00000183747.7 | ENST00000576361.1 |
| exon_skip_134242 | 16 | 20462932:20463003:20463753:20463788:20471428:20471613 | 20463753:20463788 | ENSG00000183747.7 | ENST00000219054.6 |
| exon_skip_134246 | 16 | 20462932:20463003:20471428:20471613:20476838:20476978 | 20471428:20471613 | ENSG00000183747.7 | ENST00000570698.1,ENST00000573854.1,ENST00000424070.1,ENST00000536134.1,ENST00000574692.1 |
| exon_skip_134253 | 16 | 20462932:20463003:20476838:20477049:20480833:20480867 | 20476838:20477049 | ENSG00000183747.7 | ENST00000417235.2,ENST00000575558.1 |
| exon_skip_134256 | 16 | 20463753:20463788:20471428:20471613:20476838:20476978 | 20471428:20471613 | ENSG00000183747.7 | ENST00000576361.1,ENST00000219054.6,ENST00000575690.1,ENST00000571894.1 |
| exon_skip_134263 | 16 | 20471428:20471613:20476838:20477049:20480833:20480867 | 20476838:20477049 | ENSG00000183747.7 | ENST00000570698.1,ENST00000573854.1,ENST00000424070.1,ENST00000536134.1,ENST00000219054.6,ENST00000575690.1,ENST00000574692.1,ENST00000396104.2 |
| exon_skip_134267 | 16 | 20480888:20481041:20482137:20482280:20482394:20482432 | 20482137:20482280 | ENSG00000183747.7 | ENST00000574692.1 |
| exon_skip_134268 | 16 | 20480833:20481041:20482394:20482538:20482857:20482907 | 20482394:20482538 | ENSG00000183747.7 | ENST00000570698.1,ENST00000417235.2,ENST00000575558.1,ENST00000573854.1,ENST00000219054.6,ENST00000575690.1,ENST00000396104.2 |
| exon_skip_134277 | 16 | 20482521:20482538:20482857:20483011:20486683:20486763 | 20482857:20483011 | ENSG00000183747.7 | ENST00000570698.1,ENST00000417235.2,ENST00000575558.1,ENST00000573854.1,ENST00000536134.1,ENST00000219054.6,ENST00000575690.1,ENST00000574692.1,ENST00000396104.2 |
| exon_skip_134282 | 16 | 20486683:20486763:20486971:20487095:20488690:20488771 | 20486971:20487095 | ENSG00000183747.7 | ENST00000570698.1,ENST00000417235.2,ENST00000575558.1,ENST00000573854.1,ENST00000536134.1,ENST00000219054.6,ENST00000575690.1,ENST00000396104.2 |
| exon_skip_134288 | 16 | 20488690:20488771:20489897:20489999:20491894:20492022 | 20489897:20489999 | ENSG00000183747.7 | ENST00000570698.1,ENST00000417235.2,ENST00000575558.1,ENST00000573854.1,ENST00000536134.1,ENST00000219054.6,ENST00000575690.1,ENST00000396104.2,ENST00000572843.1,ENST00000576101.1 |
| exon_skip_134294 | 16 | 20491894:20492022:20492143:20492243:20494379:20494499 | 20492143:20492243 | ENSG00000183747.7 | ENST00000417235.2,ENST00000573854.1,ENST00000536134.1,ENST00000219054.6,ENST00000575690.1,ENST00000396104.2,ENST00000572843.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for ACSM2A |
| 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 |
| ENST00000219054 | 20471428 | 20471613 | 5CDS-5UTR |
| ENST00000573854 | 20471428 | 20471613 | 5CDS-5UTR |
| ENST00000575690 | 20471428 | 20471613 | 5CDS-5UTR |
| ENST00000575690 | 20463406 | 20463788 | 5UTR-5UTR |
| ENST00000219054 | 20463753 | 20463788 | 5UTR-5UTR |
| ENST00000219054 | 20476838 | 20477049 | Frame-shift |
| ENST00000396104 | 20476838 | 20477049 | Frame-shift |
| ENST00000573854 | 20476838 | 20477049 | Frame-shift |
| ENST00000575690 | 20476838 | 20477049 | Frame-shift |
| ENST00000219054 | 20482857 | 20483011 | Frame-shift |
| ENST00000396104 | 20482857 | 20483011 | Frame-shift |
| ENST00000573854 | 20482857 | 20483011 | Frame-shift |
| ENST00000575690 | 20482857 | 20483011 | Frame-shift |
| ENST00000219054 | 20486971 | 20487095 | Frame-shift |
| ENST00000396104 | 20486971 | 20487095 | Frame-shift |
| ENST00000573854 | 20486971 | 20487095 | Frame-shift |
| ENST00000575690 | 20486971 | 20487095 | Frame-shift |
| ENST00000219054 | 20492143 | 20492243 | Frame-shift |
| ENST00000396104 | 20492143 | 20492243 | Frame-shift |
| ENST00000573854 | 20492143 | 20492243 | Frame-shift |
| ENST00000575690 | 20492143 | 20492243 | Frame-shift |
| ENST00000219054 | 20482394 | 20482538 | In-frame |
| ENST00000396104 | 20482394 | 20482538 | In-frame |
| ENST00000573854 | 20482394 | 20482538 | In-frame |
| ENST00000575690 | 20482394 | 20482538 | In-frame |
| ENST00000219054 | 20489897 | 20489999 | In-frame |
| ENST00000396104 | 20489897 | 20489999 | In-frame |
| ENST00000573854 | 20489897 | 20489999 | In-frame |
| ENST00000575690 | 20489897 | 20489999 | 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 |
| ENST00000219054 | 20471428 | 20471613 | 5CDS-5UTR |
| ENST00000573854 | 20471428 | 20471613 | 5CDS-5UTR |
| ENST00000575690 | 20471428 | 20471613 | 5CDS-5UTR |
| ENST00000575690 | 20463406 | 20463788 | 5UTR-5UTR |
| ENST00000219054 | 20463753 | 20463788 | 5UTR-5UTR |
| ENST00000219054 | 20476838 | 20477049 | Frame-shift |
| ENST00000396104 | 20476838 | 20477049 | Frame-shift |
| ENST00000573854 | 20476838 | 20477049 | Frame-shift |
| ENST00000575690 | 20476838 | 20477049 | Frame-shift |
| ENST00000219054 | 20482857 | 20483011 | Frame-shift |
| ENST00000396104 | 20482857 | 20483011 | Frame-shift |
| ENST00000573854 | 20482857 | 20483011 | Frame-shift |
| ENST00000575690 | 20482857 | 20483011 | Frame-shift |
| ENST00000219054 | 20486971 | 20487095 | Frame-shift |
| ENST00000396104 | 20486971 | 20487095 | Frame-shift |
| ENST00000573854 | 20486971 | 20487095 | Frame-shift |
| ENST00000575690 | 20486971 | 20487095 | Frame-shift |
| ENST00000219054 | 20492143 | 20492243 | Frame-shift |
| ENST00000396104 | 20492143 | 20492243 | Frame-shift |
| ENST00000573854 | 20492143 | 20492243 | Frame-shift |
| ENST00000575690 | 20492143 | 20492243 | Frame-shift |
| ENST00000219054 | 20482394 | 20482538 | In-frame |
| ENST00000396104 | 20482394 | 20482538 | In-frame |
| ENST00000573854 | 20482394 | 20482538 | In-frame |
| ENST00000575690 | 20482394 | 20482538 | In-frame |
| ENST00000219054 | 20489897 | 20489999 | In-frame |
| ENST00000396104 | 20489897 | 20489999 | In-frame |
| ENST00000573854 | 20489897 | 20489999 | In-frame |
| ENST00000575690 | 20489897 | 20489999 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for ACSM2A |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
| ENST00000219054 | 2005 | 577 | 20482394 | 20482538 | 738 | 881 | 199 | 246 |
| ENST00000396104 | 2751 | 577 | 20482394 | 20482538 | 608 | 751 | 199 | 246 |
| ENST00000573854 | 2856 | 577 | 20482394 | 20482538 | 711 | 854 | 199 | 246 |
| ENST00000575690 | 2339 | 577 | 20482394 | 20482538 | 1067 | 1210 | 199 | 246 |
| ENST00000219054 | 2005 | 577 | 20489897 | 20489999 | 1321 | 1422 | 393 | 427 |
| ENST00000396104 | 2751 | 577 | 20489897 | 20489999 | 1191 | 1292 | 393 | 427 |
| ENST00000573854 | 2856 | 577 | 20489897 | 20489999 | 1294 | 1395 | 393 | 427 |
| ENST00000575690 | 2339 | 577 | 20489897 | 20489999 | 1650 | 1751 | 393 | 427 |
| 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 |
| ENST00000219054 | 2005 | 577 | 20482394 | 20482538 | 738 | 881 | 199 | 246 |
| ENST00000396104 | 2751 | 577 | 20482394 | 20482538 | 608 | 751 | 199 | 246 |
| ENST00000573854 | 2856 | 577 | 20482394 | 20482538 | 711 | 854 | 199 | 246 |
| ENST00000575690 | 2339 | 577 | 20482394 | 20482538 | 1067 | 1210 | 199 | 246 |
| ENST00000219054 | 2005 | 577 | 20489897 | 20489999 | 1321 | 1422 | 393 | 427 |
| ENST00000396104 | 2751 | 577 | 20489897 | 20489999 | 1191 | 1292 | 393 | 427 |
| ENST00000573854 | 2856 | 577 | 20489897 | 20489999 | 1294 | 1395 | 393 | 427 |
| ENST00000575690 | 2339 | 577 | 20489897 | 20489999 | 1650 | 1751 | 393 | 427 |
| 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 |
| Q08AH3 | 199 | 246 | 214 | 220 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 214 | 220 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 214 | 220 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 214 | 220 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 224 | 227 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 224 | 227 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 224 | 227 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 224 | 227 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 230 | 234 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 230 | 234 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 230 | 234 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 230 | 234 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 47 | 577 | Chain | ID=PRO_0000306093;Note=Acyl-coenzyme A synthetase ACSM2A%2C mitochondrial |
| Q08AH3 | 199 | 246 | 47 | 577 | Chain | ID=PRO_0000306093;Note=Acyl-coenzyme A synthetase ACSM2A%2C mitochondrial |
| Q08AH3 | 199 | 246 | 47 | 577 | Chain | ID=PRO_0000306093;Note=Acyl-coenzyme A synthetase ACSM2A%2C mitochondrial |
| Q08AH3 | 199 | 246 | 47 | 577 | Chain | ID=PRO_0000306093;Note=Acyl-coenzyme A synthetase ACSM2A%2C mitochondrial |
| Q08AH3 | 199 | 246 | 194 | 200 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 194 | 200 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 194 | 200 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 194 | 200 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 235 | 245 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 235 | 245 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 235 | 245 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 235 | 245 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 221 | 229 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19345228,ECO:0000269|Ref.6;Dbxref=PMID:19345228 |
| Q08AH3 | 199 | 246 | 221 | 229 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19345228,ECO:0000269|Ref.6;Dbxref=PMID:19345228 |
| Q08AH3 | 199 | 246 | 221 | 229 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19345228,ECO:0000269|Ref.6;Dbxref=PMID:19345228 |
| Q08AH3 | 199 | 246 | 221 | 229 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19345228,ECO:0000269|Ref.6;Dbxref=PMID:19345228 |
| Q08AH3 | 199 | 246 | 246 | 249 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 246 | 249 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 246 | 249 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 246 | 249 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 393 | 427 | 392 | 395 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 393 | 427 | 392 | 395 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 393 | 427 | 392 | 395 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 393 | 427 | 392 | 395 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 393 | 427 | 408 | 413 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 393 | 427 | 408 | 413 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 393 | 427 | 408 | 413 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 393 | 427 | 408 | 413 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 393 | 427 | 415 | 417 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 393 | 427 | 415 | 417 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 393 | 427 | 415 | 417 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 393 | 427 | 415 | 417 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 393 | 427 | 47 | 577 | Chain | ID=PRO_0000306093;Note=Acyl-coenzyme A synthetase ACSM2A%2C mitochondrial |
| Q08AH3 | 393 | 427 | 47 | 577 | Chain | ID=PRO_0000306093;Note=Acyl-coenzyme A synthetase ACSM2A%2C mitochondrial |
| Q08AH3 | 393 | 427 | 47 | 577 | Chain | ID=PRO_0000306093;Note=Acyl-coenzyme A synthetase ACSM2A%2C mitochondrial |
| Q08AH3 | 393 | 427 | 47 | 577 | Chain | ID=PRO_0000306093;Note=Acyl-coenzyme A synthetase ACSM2A%2C mitochondrial |
| 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 |
| Q08AH3 | 199 | 246 | 214 | 220 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 214 | 220 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 214 | 220 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 214 | 220 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 224 | 227 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 224 | 227 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 224 | 227 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 224 | 227 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 230 | 234 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 230 | 234 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 230 | 234 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 230 | 234 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 47 | 577 | Chain | ID=PRO_0000306093;Note=Acyl-coenzyme A synthetase ACSM2A%2C mitochondrial |
| Q08AH3 | 199 | 246 | 47 | 577 | Chain | ID=PRO_0000306093;Note=Acyl-coenzyme A synthetase ACSM2A%2C mitochondrial |
| Q08AH3 | 199 | 246 | 47 | 577 | Chain | ID=PRO_0000306093;Note=Acyl-coenzyme A synthetase ACSM2A%2C mitochondrial |
| Q08AH3 | 199 | 246 | 47 | 577 | Chain | ID=PRO_0000306093;Note=Acyl-coenzyme A synthetase ACSM2A%2C mitochondrial |
| Q08AH3 | 199 | 246 | 194 | 200 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 194 | 200 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 194 | 200 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 194 | 200 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 235 | 245 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 235 | 245 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 235 | 245 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 235 | 245 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 221 | 229 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19345228,ECO:0000269|Ref.6;Dbxref=PMID:19345228 |
| Q08AH3 | 199 | 246 | 221 | 229 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19345228,ECO:0000269|Ref.6;Dbxref=PMID:19345228 |
| Q08AH3 | 199 | 246 | 221 | 229 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19345228,ECO:0000269|Ref.6;Dbxref=PMID:19345228 |
| Q08AH3 | 199 | 246 | 221 | 229 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19345228,ECO:0000269|Ref.6;Dbxref=PMID:19345228 |
| Q08AH3 | 199 | 246 | 246 | 249 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 246 | 249 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 246 | 249 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 199 | 246 | 246 | 249 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 393 | 427 | 392 | 395 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 393 | 427 | 392 | 395 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 393 | 427 | 392 | 395 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 393 | 427 | 392 | 395 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 393 | 427 | 408 | 413 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 393 | 427 | 408 | 413 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 393 | 427 | 408 | 413 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 393 | 427 | 408 | 413 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 393 | 427 | 415 | 417 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 393 | 427 | 415 | 417 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 393 | 427 | 415 | 417 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 393 | 427 | 415 | 417 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3C5E |
| Q08AH3 | 393 | 427 | 47 | 577 | Chain | ID=PRO_0000306093;Note=Acyl-coenzyme A synthetase ACSM2A%2C mitochondrial |
| Q08AH3 | 393 | 427 | 47 | 577 | Chain | ID=PRO_0000306093;Note=Acyl-coenzyme A synthetase ACSM2A%2C mitochondrial |
| Q08AH3 | 393 | 427 | 47 | 577 | Chain | ID=PRO_0000306093;Note=Acyl-coenzyme A synthetase ACSM2A%2C mitochondrial |
| Q08AH3 | 393 | 427 | 47 | 577 | Chain | ID=PRO_0000306093;Note=Acyl-coenzyme A synthetase ACSM2A%2C mitochondrial |
Top |
SNVs in the skipped exons for ACSM2A |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - 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 |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_134263 exon_skip_134253 | 20476839 | 20477049 | 20476852 | 20476852 | Frame_Shift_Del | T | - | p.L64fs |
| COAD | TCGA-AM-5820-01 | exon_skip_134288 | 20489898 | 20489999 | 20489925 | 20489925 | Frame_Shift_Del | C | - | p.L402fs |
| KIRC | TCGA-BP-5174-01 | exon_skip_134288 | 20489898 | 20489999 | 20489924 | 20489925 | Frame_Shift_Ins | - | C | p.L402fs |
| KIRC | TCGA-BP-5174-01 | exon_skip_134288 | 20489898 | 20489999 | 20489924 | 20489925 | Frame_Shift_Ins | - | C | p.LP402fs |
| KIRC | TCGA-CW-5581-01 | exon_skip_134288 | 20489898 | 20489999 | 20489924 | 20489925 | Frame_Shift_Ins | - | C | p.L402fs |
| KIRP | TCGA-IA-A83S-01 | exon_skip_134288 | 20489898 | 20489999 | 20489924 | 20489925 | Frame_Shift_Ins | - | C | p.L402fs |
| LUAD | TCGA-44-2656-01 | exon_skip_134288 | 20489898 | 20489999 | 20489924 | 20489925 | Frame_Shift_Ins | - | C | p.L402fs |
| LUAD | TCGA-44-2656-01 | exon_skip_134288 | 20489898 | 20489999 | 20489924 | 20489925 | Frame_Shift_Ins | - | C | p.LP402fs |
| UCEC | TCGA-BG-A0M3-01 | exon_skip_134288 | 20489898 | 20489999 | 20489924 | 20489925 | Frame_Shift_Ins | - | C | p.L402fs |
| UCEC | TCGA-BG-A0M9-01 | exon_skip_134288 | 20489898 | 20489999 | 20489924 | 20489925 | Frame_Shift_Ins | - | C | p.L402fs |
| COAD | TCGA-AD-6548-01 | exon_skip_134246 exon_skip_134256 | 20471429 | 20471613 | 20471449 | 20471449 | Nonsense_Mutation | C | T | p.R5X |
| SKCM | TCGA-EE-A2GN-06 | exon_skip_134246 exon_skip_134256 | 20471429 | 20471613 | 20471449 | 20471449 | Nonsense_Mutation | C | T | p.R5* |
| STAD | TCGA-CG-5733-01 | exon_skip_134246 exon_skip_134256 | 20471429 | 20471613 | 20471449 | 20471449 | Nonsense_Mutation | C | T | p.R5* |
| STAD | TCGA-CG-5733-01 | exon_skip_134246 exon_skip_134256 | 20471429 | 20471613 | 20471449 | 20471449 | Nonsense_Mutation | C | T | p.R5X |
| SKCM | TCGA-DA-A95Z-06 | exon_skip_134246 exon_skip_134256 | 20471429 | 20471613 | 20471458 | 20471458 | Nonsense_Mutation | C | T | p.Q8* |
| LGG | TCGA-DU-6402-01 | exon_skip_134263 exon_skip_134253 | 20476839 | 20477049 | 20476848 | 20476848 | Nonsense_Mutation | C | T | p.R63* |
| ACC | TCGA-OR-A5KB-01 | exon_skip_134263 exon_skip_134253 | 20476839 | 20477049 | 20476935 | 20476935 | Nonsense_Mutation | C | T | p.Q92* |
| ACC | TCGA-OR-A5KB-01 | exon_skip_134263 exon_skip_134253 | 20476839 | 20477049 | 20476935 | 20476935 | Nonsense_Mutation | C | T | p.Q92X |
| COAD | TCGA-CA-6717-01 | exon_skip_134263 exon_skip_134253 | 20476839 | 20477049 | 20477043 | 20477043 | Nonsense_Mutation | C | T | p.R128X |
| SKCM | TCGA-FR-A726-01 | exon_skip_134263 exon_skip_134253 | 20476839 | 20477049 | 20477043 | 20477043 | Nonsense_Mutation | C | T | p.R128* |
| LUAD | TCGA-17-Z021-01 | exon_skip_134268 | 20482395 | 20482538 | 20482505 | 20482505 | Nonsense_Mutation | C | A | p.S236* |
| COAD | TCGA-CA-6717-01 | exon_skip_134277 | 20482858 | 20483011 | 20482940 | 20482940 | Nonsense_Mutation | G | T | p.E275X |
| LUAD | TCGA-78-7155-01 | exon_skip_134282 | 20486972 | 20487095 | 20486999 | 20486999 | Nonsense_Mutation | C | A | p.C334* |
| STAD | TCGA-IN-A6RS-01 | exon_skip_134294 | 20492144 | 20492243 | 20492161 | 20492161 | Nonsense_Mutation | C | A | p.S476* |
| STAD | TCGA-IN-A6RS-01 | exon_skip_134294 | 20492144 | 20492243 | 20492161 | 20492161 | Nonsense_Mutation | C | A | p.S476X |
| READ | TCGA-EI-7004-01 | exon_skip_134294 | 20492144 | 20492243 | 20492235 | 20492235 | Nonsense_Mutation | C | T | p.R501X |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_134294 | 20492144 | 20492243 | 20492235 | 20492235 | Nonsense_Mutation | C | T | p.R501* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_134294 | 20492144 | 20492243 | 20492235 | 20492235 | Nonsense_Mutation | C | T | p.R501X |
| HNSC | TCGA-CV-5441-01 | exon_skip_134282 | 20486972 | 20487095 | 20487096 | 20487096 | Splice_Site | G | T | p.T366_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 |
| LCLC97TM1_LUNG | 20486972 | 20487095 | 20487009 | 20487009 | Frame_Shift_Del | G | - | p.G338fs |
| OC316_OVARY | 20489898 | 20489999 | 20489925 | 20489925 | Frame_Shift_Del | C | - | p.P404fs |
| HEC59_ENDOMETRIUM | 20489898 | 20489999 | 20489925 | 20489925 | Frame_Shift_Del | C | - | p.P404fs |
| OC314_OVARY | 20489898 | 20489999 | 20489925 | 20489925 | Frame_Shift_Del | C | - | p.P404fs |
| P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20489898 | 20489999 | 20489925 | 20489925 | Frame_Shift_Del | C | - | p.P404fs |
| SNGM_ENDOMETRIUM | 20476839 | 20477049 | 20476850 | 20476851 | Frame_Shift_Ins | - | C | p.L64fs |
| GIMEN_AUTONOMIC_GANGLIA | 20471429 | 20471613 | 20471544 | 20471546 | In_Frame_Del | CCA | - | p.H37del |
| SW1116_LARGE_INTESTINE | 20471429 | 20471613 | 20471465 | 20471465 | Missense_Mutation | T | G | p.L10R |
| LS411N_LARGE_INTESTINE | 20471429 | 20471613 | 20471478 | 20471478 | Missense_Mutation | G | T | p.W14C |
| G402_SOFT_TISSUE | 20471429 | 20471613 | 20471539 | 20471539 | Missense_Mutation | T | C | p.W35R |
| A2058_SKIN | 20471429 | 20471613 | 20471551 | 20471551 | Missense_Mutation | G | A | p.E39K |
| NB12_AUTONOMIC_GANGLIA | 20471429 | 20471613 | 20471590 | 20471590 | Missense_Mutation | G | T | p.D52Y |
| LB2518MEL_SKIN | 20471429 | 20471613 | 20471608 | 20471608 | Missense_Mutation | G | A | p.E58K |
| COLO792_SKIN | 20476839 | 20477049 | 20476849 | 20476849 | Missense_Mutation | G | A | p.R63Q |
| SKMEL3_SKIN | 20476839 | 20477049 | 20476888 | 20476888 | Missense_Mutation | G | A | p.G76E |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20476839 | 20477049 | 20476947 | 20476947 | Missense_Mutation | G | A | p.V96I |
| NCIH2172_LUNG | 20476839 | 20477049 | 20477002 | 20477002 | Missense_Mutation | C | T | p.P114L |
| HCC2157_BREAST | 20476839 | 20477049 | 20477002 | 20477002 | Missense_Mutation | C | T | p.P114L |
| LCLC103H_LUNG | 20476839 | 20477049 | 20477014 | 20477014 | Missense_Mutation | A | C | p.E118A |
| P32ISH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20482395 | 20482538 | 20482399 | 20482399 | Missense_Mutation | G | A | p.A201T |
| HKA1_SKIN | 20482395 | 20482538 | 20482450 | 20482450 | Missense_Mutation | A | T | p.I218F |
| COLO792_SKIN | 20482395 | 20482538 | 20482466 | 20482466 | Missense_Mutation | G | A | p.G223E |
| RH18_SOFT_TISSUE | 20482395 | 20482538 | 20482466 | 20482466 | Missense_Mutation | G | T | p.G223V |
| SCC9_UPPER_AERODIGESTIVE_TRACT | 20482395 | 20482538 | 20482502 | 20482502 | Missense_Mutation | A | G | p.Y235C |
| NCIH64_LUNG | 20482858 | 20483011 | 20482868 | 20482868 | Missense_Mutation | C | A | p.L251M |
| JM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20482858 | 20483011 | 20482875 | 20482875 | Missense_Mutation | C | G | p.A253G |
| NB5_AUTONOMIC_GANGLIA | 20482858 | 20483011 | 20482911 | 20482911 | Missense_Mutation | G | T | p.W265L |
| YMB1E_BREAST | 20482858 | 20483011 | 20482938 | 20482938 | Missense_Mutation | T | C | p.M274T |
| NCIH2227_LUNG | 20482858 | 20483011 | 20482970 | 20482970 | Missense_Mutation | G | T | p.V285F |
| SKOV3_OVARY | 20482858 | 20483011 | 20482994 | 20482994 | Missense_Mutation | C | T | p.P293S |
| JVM3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20486972 | 20487095 | 20487016 | 20487016 | Missense_Mutation | C | A | p.S340Y |
| FLO1_OESOPHAGUS | 20486972 | 20487095 | 20487055 | 20487055 | Missense_Mutation | C | T | p.T353I |
| HCE4_OESOPHAGUS | 20486972 | 20487095 | 20487058 | 20487058 | Missense_Mutation | G | T | p.G354V |
| NCIH3255_LUNG | 20486972 | 20487095 | 20487084 | 20487084 | Missense_Mutation | C | G | p.Q363E |
| KYSE410_OESOPHAGUS | 20489898 | 20489999 | 20489909 | 20489909 | Missense_Mutation | T | G | p.D397E |
| MEWO_SKIN | 20489898 | 20489999 | 20489931 | 20489931 | Missense_Mutation | G | A | p.G405S |
| SW900_LUNG | 20489898 | 20489999 | 20489957 | 20489957 | Missense_Mutation | G | T | p.R413S |
| NCIH2591_PLEURA | 20489898 | 20489999 | 20489958 | 20489958 | Missense_Mutation | G | C | p.V414L |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20492144 | 20492243 | 20492146 | 20492146 | Missense_Mutation | A | G | p.Y471C |
| IGR39_SKIN | 20492144 | 20492243 | 20492194 | 20492194 | Missense_Mutation | C | T | p.A487V |
| IGR37_SKIN | 20492144 | 20492243 | 20492194 | 20492194 | Missense_Mutation | C | T | p.A487V |
| HS695T_SKIN | 20492144 | 20492243 | 20492206 | 20492206 | Missense_Mutation | C | T | p.T491M |
| COLO684_ENDOMETRIUM | 20492144 | 20492243 | 20492227 | 20492227 | Missense_Mutation | A | C | p.D498A |
| TE617T_SOFT_TISSUE | 20492144 | 20492243 | 20492232 | 20492232 | Missense_Mutation | G | A | p.V500I |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20476839 | 20477049 | 20476904 | 20476904 | Nonsense_Mutation | G | A | p.W81* |
| NCIH1793_LUNG | 20482858 | 20483011 | 20482953 | 20482953 | Nonsense_Mutation | T | A | p.L279* |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20489898 | 20489999 | 20489898 | 20489898 | Splice_Site | A | C | p.I394L |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ACSM2A |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ACSM2A |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ACSM2A |
Top |
RelatedDrugs for ACSM2A |
| 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 |
Top |
RelatedDiseases for ACSM2A |
| 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)
|