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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 ACSL1 |
 Gene summary |
| Gene information | Gene symbol | ACSL1 | Gene ID | 2180 |
| Gene name | acyl-CoA synthetase long chain family member 1 | |
| Synonyms | ACS1|FACL1|FACL2|LACS|LACS1|LACS2 | |
| Cytomap | 4q35.1 | |
| Type of gene | protein-coding | |
| Description | long-chain-fatty-acid--CoA ligase 1LACS 1LACS 2acyl-CoA synthetase 1arachidonate--CoA ligasefatty-acid-Coenzyme A ligase, long-chain 1fatty-acid-Coenzyme A ligase, long-chain 2lignoceroyl-CoA synthaselong-chain acyl-CoA synthetase 1long-chain acy | |
| Modification date | 20200313 | |
| UniProtAcc | B7Z3Z9, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| ACSL1 | GO:0001676 | long-chain fatty acid metabolic process | 22022213|24269233 |
| ACSL1 | GO:0008610 | lipid biosynthetic process | 21242590 |
| ACSL1 | GO:0044539 | long-chain fatty acid import | 22022213 |
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Gene structures and expression levels for ACSL1 |
| 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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ENSG00000151726
| 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 | UP | ENST00000505492.1 | ACSL1-206:protein_coding:ACSL1 | 1.024103e+00 | 1.567506e+00 | 5.981620e-03 | 2.281245e-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 ACSL1 |
| 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_104124 | chr4 | 184768328:184768450:184773081:184773154:184773663:184773714 | 184773081:184773154 |
| exon_skip_13065 | chr4 | 184768328:184768450:184770399:184770476:184773081:184773154 | 184770399:184770476 |
| exon_skip_158426 | chr4 | 184768328:184768450:184770255:184770332:184773081:184773154 | 184770255:184770332 |
| exon_skip_208291 | chr4 | 184770399:184770476:184773081:184773154:184773663:184773714 | 184773081:184773154 |
| exon_skip_228473 | chr4 | 184776884:184776983:184780332:184780433:184783927:184783991 | 184780332:184780433 |
| exon_skip_253202 | chr4 | 184764853:184764925:184765891:184765986:184766622:184766702 | 184765891:184765986 |
| exon_skip_49306 | chr4 | 184776884:184776983:184783927:184783991:184788617:184788731 | 184783927:184783991 |
| exon_skip_50181 | chr4 | 184788617:184788731:184803320:184803546:184825916:184826119 | 184803320:184803546 |
| 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 ACSL1 |
| 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 |
| ENST00000281455 | 184770399 | 184770476 | In-frame |
| ENST00000504342 | 184770399 | 184770476 | In-frame |
| ENST00000515030 | 184770399 | 184770476 | In-frame |
| ENST00000281455 | 184780332 | 184780433 | In-frame |
| ENST00000504342 | 184780332 | 184780433 | In-frame |
| ENST00000515030 | 184780332 | 184780433 | 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 |
| ENST00000281455 | 184770399 | 184770476 | In-frame |
| ENST00000504342 | 184770399 | 184770476 | In-frame |
| ENST00000515030 | 184770399 | 184770476 | In-frame |
| ENST00000281455 | 184780332 | 184780433 | In-frame |
| ENST00000504342 | 184780332 | 184780433 | In-frame |
| ENST00000515030 | 184780332 | 184780433 | In-frame |
| 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 |
| ENST00000281455 | 184773081 | 184773154 | Frame-shift |
| ENST00000504342 | 184773081 | 184773154 | Frame-shift |
| ENST00000515030 | 184773081 | 184773154 | Frame-shift |
| ENST00000281455 | 184765891 | 184765986 | In-frame |
| ENST00000504342 | 184765891 | 184765986 | In-frame |
| ENST00000515030 | 184765891 | 184765986 | In-frame |
| ENST00000281455 | 184770399 | 184770476 | In-frame |
| ENST00000504342 | 184770399 | 184770476 | In-frame |
| ENST00000515030 | 184770399 | 184770476 | In-frame |
| ENST00000281455 | 184780332 | 184780433 | In-frame |
| ENST00000504342 | 184780332 | 184780433 | In-frame |
| ENST00000515030 | 184780332 | 184780433 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ACSL1 |
p-ENSG00000151726_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 |
| ENST00000281455 | 3849 | 698 | 184780332 | 184780433 | 587 | 687 | 125 | 158 |
| ENST00000504342 | 2350 | 698 | 184780332 | 184780433 | 508 | 608 | 125 | 158 |
| ENST00000515030 | 3965 | 698 | 184780332 | 184780433 | 702 | 802 | 125 | 158 |
| ENST00000281455 | 3849 | 698 | 184770399 | 184770476 | 1127 | 1203 | 305 | 330 |
| ENST00000504342 | 2350 | 698 | 184770399 | 184770476 | 1048 | 1124 | 305 | 330 |
| ENST00000515030 | 3965 | 698 | 184770399 | 184770476 | 1242 | 1318 | 305 | 330 |
| 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 |
| ENST00000281455 | 3849 | 698 | 184780332 | 184780433 | 587 | 687 | 125 | 158 |
| ENST00000504342 | 2350 | 698 | 184780332 | 184780433 | 508 | 608 | 125 | 158 |
| ENST00000515030 | 3965 | 698 | 184780332 | 184780433 | 702 | 802 | 125 | 158 |
| ENST00000281455 | 3849 | 698 | 184770399 | 184770476 | 1127 | 1203 | 305 | 330 |
| ENST00000504342 | 2350 | 698 | 184770399 | 184770476 | 1048 | 1124 | 305 | 330 |
| ENST00000515030 | 3965 | 698 | 184770399 | 184770476 | 1242 | 1318 | 305 | 330 |
| 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 |
| ENST00000281455 | 3849 | 698 | 184780332 | 184780433 | 587 | 687 | 125 | 158 |
| ENST00000504342 | 2350 | 698 | 184780332 | 184780433 | 508 | 608 | 125 | 158 |
| ENST00000515030 | 3965 | 698 | 184780332 | 184780433 | 702 | 802 | 125 | 158 |
| ENST00000281455 | 3849 | 698 | 184770399 | 184770476 | 1127 | 1203 | 305 | 330 |
| ENST00000504342 | 2350 | 698 | 184770399 | 184770476 | 1048 | 1124 | 305 | 330 |
| ENST00000515030 | 3965 | 698 | 184770399 | 184770476 | 1242 | 1318 | 305 | 330 |
| ENST00000281455 | 3849 | 698 | 184765891 | 184765986 | 1475 | 1569 | 421 | 452 |
| ENST00000504342 | 2350 | 698 | 184765891 | 184765986 | 1396 | 1490 | 421 | 452 |
| ENST00000515030 | 3965 | 698 | 184765891 | 184765986 | 1590 | 1684 | 421 | 452 |
| 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 |
| P33121 | 125 | 158 | 1 | 698 | Chain | ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1 |
| P33121 | 125 | 158 | 1 | 698 | Chain | ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1 |
| P33121 | 125 | 158 | 1 | 698 | Chain | ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1 |
| P33121 | 125 | 158 | 135 | 135 | Glycosylation | Note=O-linked (GlcNAc) serine;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P33121 | 125 | 158 | 135 | 135 | Glycosylation | Note=O-linked (GlcNAc) serine;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P33121 | 125 | 158 | 135 | 135 | Glycosylation | Note=O-linked (GlcNAc) serine;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P33121 | 125 | 158 | 46 | 698 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P33121 | 125 | 158 | 46 | 698 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P33121 | 125 | 158 | 46 | 698 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P33121 | 305 | 330 | 306 | 331 | Alternative sequence | ID=VSP_054391;Note=In isoform 3. NTVNPCPDDTLISFLPLAHMFERVVE->KALPLSASDTHISYLPLAHIYEQLLK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P33121 | 305 | 330 | 306 | 331 | Alternative sequence | ID=VSP_054391;Note=In isoform 3. NTVNPCPDDTLISFLPLAHMFERVVE->KALPLSASDTHISYLPLAHIYEQLLK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P33121 | 305 | 330 | 306 | 331 | Alternative sequence | ID=VSP_054391;Note=In isoform 3. NTVNPCPDDTLISFLPLAHMFERVVE->KALPLSASDTHISYLPLAHIYEQLLK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P33121 | 305 | 330 | 1 | 698 | Chain | ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1 |
| P33121 | 305 | 330 | 1 | 698 | Chain | ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1 |
| P33121 | 305 | 330 | 1 | 698 | Chain | ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1 |
| P33121 | 305 | 330 | 46 | 698 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P33121 | 305 | 330 | 46 | 698 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P33121 | 305 | 330 | 46 | 698 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| P33121 | 125 | 158 | 1 | 698 | Chain | ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1 |
| P33121 | 125 | 158 | 1 | 698 | Chain | ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1 |
| P33121 | 125 | 158 | 1 | 698 | Chain | ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1 |
| P33121 | 125 | 158 | 135 | 135 | Glycosylation | Note=O-linked (GlcNAc) serine;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P33121 | 125 | 158 | 135 | 135 | Glycosylation | Note=O-linked (GlcNAc) serine;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P33121 | 125 | 158 | 135 | 135 | Glycosylation | Note=O-linked (GlcNAc) serine;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P33121 | 125 | 158 | 46 | 698 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P33121 | 125 | 158 | 46 | 698 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P33121 | 125 | 158 | 46 | 698 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P33121 | 305 | 330 | 306 | 331 | Alternative sequence | ID=VSP_054391;Note=In isoform 3. NTVNPCPDDTLISFLPLAHMFERVVE->KALPLSASDTHISYLPLAHIYEQLLK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P33121 | 305 | 330 | 306 | 331 | Alternative sequence | ID=VSP_054391;Note=In isoform 3. NTVNPCPDDTLISFLPLAHMFERVVE->KALPLSASDTHISYLPLAHIYEQLLK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P33121 | 305 | 330 | 306 | 331 | Alternative sequence | ID=VSP_054391;Note=In isoform 3. NTVNPCPDDTLISFLPLAHMFERVVE->KALPLSASDTHISYLPLAHIYEQLLK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P33121 | 305 | 330 | 1 | 698 | Chain | ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1 |
| P33121 | 305 | 330 | 1 | 698 | Chain | ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1 |
| P33121 | 305 | 330 | 1 | 698 | Chain | ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1 |
| P33121 | 305 | 330 | 46 | 698 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P33121 | 305 | 330 | 46 | 698 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P33121 | 305 | 330 | 46 | 698 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| P33121 | 125 | 158 | 1 | 698 | Chain | ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1 |
| P33121 | 125 | 158 | 1 | 698 | Chain | ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1 |
| P33121 | 125 | 158 | 1 | 698 | Chain | ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1 |
| P33121 | 125 | 158 | 135 | 135 | Glycosylation | Note=O-linked (GlcNAc) serine;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P33121 | 125 | 158 | 135 | 135 | Glycosylation | Note=O-linked (GlcNAc) serine;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P33121 | 125 | 158 | 135 | 135 | Glycosylation | Note=O-linked (GlcNAc) serine;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P33121 | 125 | 158 | 46 | 698 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P33121 | 125 | 158 | 46 | 698 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P33121 | 125 | 158 | 46 | 698 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P33121 | 305 | 330 | 306 | 331 | Alternative sequence | ID=VSP_054391;Note=In isoform 3. NTVNPCPDDTLISFLPLAHMFERVVE->KALPLSASDTHISYLPLAHIYEQLLK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P33121 | 305 | 330 | 306 | 331 | Alternative sequence | ID=VSP_054391;Note=In isoform 3. NTVNPCPDDTLISFLPLAHMFERVVE->KALPLSASDTHISYLPLAHIYEQLLK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P33121 | 305 | 330 | 306 | 331 | Alternative sequence | ID=VSP_054391;Note=In isoform 3. NTVNPCPDDTLISFLPLAHMFERVVE->KALPLSASDTHISYLPLAHIYEQLLK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P33121 | 305 | 330 | 1 | 698 | Chain | ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1 |
| P33121 | 305 | 330 | 1 | 698 | Chain | ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1 |
| P33121 | 305 | 330 | 1 | 698 | Chain | ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1 |
| P33121 | 305 | 330 | 46 | 698 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P33121 | 305 | 330 | 46 | 698 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P33121 | 305 | 330 | 46 | 698 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P33121 | 421 | 452 | 1 | 698 | Chain | ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1 |
| P33121 | 421 | 452 | 1 | 698 | Chain | ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1 |
| P33121 | 421 | 452 | 1 | 698 | Chain | ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1 |
| P33121 | 421 | 452 | 46 | 698 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P33121 | 421 | 452 | 46 | 698 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P33121 | 421 | 452 | 46 | 698 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ACSL1 |
| 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 ACSL1 |
| - 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 ACSL1 |
| 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 ACSL1 |
| 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 ACSL1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for ACSL1 |
| 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 ACSL1 |
| 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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