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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 ACSL3 |
 Gene summary |
| Gene information | Gene symbol | ACSL3 | Gene ID | 2181 |
| Gene name | acyl-CoA synthetase long chain family member 3 | |
| Synonyms | ACS3|FACL3|LACS 3|LACS3|PRO2194 | |
| Cytomap | 2q36.1 | |
| Type of gene | protein-coding | |
| Description | long-chain-fatty-acid--CoA ligase 3arachidonate--CoA ligasefatty-acid-Coenzyme A ligase, long-chain 3lignoceroyl-CoA synthaselong-chain acyl-CoA synthetase 3 | |
| 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 |
| ACSL3 | GO:0044539 | long-chain fatty acid import | 20219900 |
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Gene structures and expression levels for ACSL3 |
| 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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ENSG00000123983
| 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 | ENST00000535678.1 | ACSL3-209:protein_coding:ACSL3 | 6.257942e+00 | 8.721397e-01 | 1.189054e-04 | 8.573287e-04 |
| 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 ACSL3 |
| 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_100289 | chr2 | 222916319:222916496:222918046:222918155:222919064:222919104 | 222918046:222918155 |
| exon_skip_172830 | chr2 | 222924554:222924595:222927017:222927189:222928862:222928936 | 222927017:222927189 |
| exon_skip_187726 | chr2 | 222861036:222861258:222887830:222887888:222900674:222900780 | 222887830:222887888 |
| exon_skip_193156 | chr2 | 222927017:222927189:222928862:222928936:222930621:222930812 | 222928862:222928936 |
| exon_skip_65362 | chr2 | 222887830:222887888:222900674:222900780:222908733:222909036 | 222900674:222900780 |
| exon_skip_83403 | chr2 | 222924554:222924595:222930621:222930812:222933166:222933280 | 222930621:222930812 |
| exon_skip_83590 | chr2 | 222922708:222922831:222923078:222923149:222924456:222924595 | 222923078:222923149 |
| exon_skip_945 | chr2 | 222887830:222887888:222908733:222909150:222916319:222916496 | 222908733:222909150 |
| exon_skip_9693 | chr2 | 222919064:222919202:222921280:222921430:222922708:222922831 | 222921280:222921430 |
| 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 ACSL3 |
| 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 |
| ENST00000392066 | 222908733 | 222909150 | 5CDS-5UTR |
| ENST00000357430 | 222887830 | 222887888 | 5UTR-5UTR |
| ENST00000357430 | 222900674 | 222900780 | 5UTR-5UTR |
| ENST00000357430 | 222918046 | 222918155 | Frame-shift |
| ENST00000392066 | 222918046 | 222918155 | Frame-shift |
| ENST00000357430 | 222921280 | 222921430 | Frame-shift |
| ENST00000392066 | 222921280 | 222921430 | Frame-shift |
| ENST00000357430 | 222927017 | 222927189 | Frame-shift |
| ENST00000392066 | 222927017 | 222927189 | Frame-shift |
| ENST00000357430 | 222928862 | 222928936 | In-frame |
| ENST00000392066 | 222928862 | 222928936 | 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 |
| ENST00000357430 | 222887830 | 222887888 | 5UTR-5UTR |
| ENST00000357430 | 222900674 | 222900780 | 5UTR-5UTR |
| ENST00000357430 | 222921280 | 222921430 | Frame-shift |
| ENST00000392066 | 222921280 | 222921430 | Frame-shift |
| ENST00000357430 | 222927017 | 222927189 | Frame-shift |
| ENST00000392066 | 222927017 | 222927189 | Frame-shift |
| 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 |
| ENST00000357430 | 222887830 | 222887888 | 5UTR-5UTR |
| ENST00000357430 | 222900674 | 222900780 | 5UTR-5UTR |
| ENST00000357430 | 222918046 | 222918155 | Frame-shift |
| ENST00000392066 | 222918046 | 222918155 | Frame-shift |
| ENST00000357430 | 222921280 | 222921430 | Frame-shift |
| ENST00000392066 | 222921280 | 222921430 | Frame-shift |
| ENST00000357430 | 222927017 | 222927189 | Frame-shift |
| ENST00000392066 | 222927017 | 222927189 | Frame-shift |
| ENST00000357430 | 222923078 | 222923149 | In-frame |
| ENST00000392066 | 222923078 | 222923149 | In-frame |
| ENST00000357430 | 222928862 | 222928936 | In-frame |
| ENST00000392066 | 222928862 | 222928936 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ACSL3 |
p-ENSG00000123983_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 |
| ENST00000357430 | 5696 | 720 | 222928862 | 222928936 | 1998 | 2071 | 489 | 513 |
| ENST00000392066 | 3164 | 720 | 222928862 | 222928936 | 1883 | 1956 | 489 | 513 |
| 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 |
| ENST00000357430 | 5696 | 720 | 222923078 | 222923149 | 1613 | 1683 | 360 | 384 |
| ENST00000392066 | 3164 | 720 | 222923078 | 222923149 | 1498 | 1568 | 360 | 384 |
| ENST00000357430 | 5696 | 720 | 222928862 | 222928936 | 1998 | 2071 | 489 | 513 |
| ENST00000392066 | 3164 | 720 | 222928862 | 222928936 | 1883 | 1956 | 489 | 513 |
| 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 |
| O95573 | 489 | 513 | 1 | 720 | Chain | ID=PRO_0000193107;Note=Long-chain-fatty-acid--CoA ligase 3 |
| O95573 | 489 | 513 | 1 | 720 | Chain | ID=PRO_0000193107;Note=Long-chain-fatty-acid--CoA ligase 3 |
| O95573 | 489 | 513 | 42 | 720 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O95573 | 489 | 513 | 42 | 720 | 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 |
| 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 |
| O95573 | 360 | 384 | 1 | 720 | Chain | ID=PRO_0000193107;Note=Long-chain-fatty-acid--CoA ligase 3 |
| O95573 | 360 | 384 | 1 | 720 | Chain | ID=PRO_0000193107;Note=Long-chain-fatty-acid--CoA ligase 3 |
| O95573 | 360 | 384 | 42 | 720 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O95573 | 360 | 384 | 42 | 720 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O95573 | 489 | 513 | 1 | 720 | Chain | ID=PRO_0000193107;Note=Long-chain-fatty-acid--CoA ligase 3 |
| O95573 | 489 | 513 | 1 | 720 | Chain | ID=PRO_0000193107;Note=Long-chain-fatty-acid--CoA ligase 3 |
| O95573 | 489 | 513 | 42 | 720 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O95573 | 489 | 513 | 42 | 720 | 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 ACSL3 |
| 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 ACSL3 |
| - 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 ACSL3 |
| 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 ACSL3 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| CB | exon_skip_65362 | rs795887 | chr2:222893352 | 2.333797e-04 | 3.361461e-02 |
| TC | exon_skip_65362 | rs795887 | chr2:222893352 | 1.140092e-08 | 6.494353e-06 |
| TC | exon_skip_65362 | rs705727 | chr2:222884844 | 6.121321e-07 | 2.204272e-04 |
| HCC | exon_skip_65362 | rs10932980 | chr2:222937668 | 5.631884e-20 | 7.902468e-17 |
| HCC | exon_skip_65362 | rs10195273 | chr2:222913955 | 9.990558e-20 | 1.341112e-16 |
| HCC | exon_skip_65362 | rs705727 | chr2:222884844 | 8.831736e-15 | 5.906446e-12 |
| HCC | exon_skip_65362 | rs6739824 | chr2:222920786 | 8.831736e-15 | 5.906446e-12 |
| HCC | exon_skip_65362 | rs795887 | chr2:222893352 | 5.249131e-12 | 2.266936e-09 |
| HCC | exon_skip_65362 | rs4542842 | chr2:222902269 | 5.249131e-12 | 2.266936e-09 |
| HCC | exon_skip_65362 | rs10202154 | chr2:222937342 | 5.249131e-12 | 2.266936e-09 |
| HCC | exon_skip_65362 | rs1473290 | chr2:222945862 | 5.249131e-12 | 2.266936e-09 |
| HCC | exon_skip_65362 | rs17780761 | chr2:222873025 | 2.509285e-05 | 2.800270e-03 |
| PCC | exon_skip_65362 | rs10195273 | chr2:222913955 | 4.708767e-11 | 5.104005e-08 |
| PCC | exon_skip_65362 | rs10932980 | chr2:222937668 | 4.708767e-11 | 5.104005e-08 |
| PCC | exon_skip_65362 | rs795887 | chr2:222893352 | 9.880377e-08 | 4.698546e-05 |
| PCC | exon_skip_65362 | rs4542842 | chr2:222902269 | 9.880377e-08 | 4.698546e-05 |
| PCC | exon_skip_65362 | rs10202154 | chr2:222937342 | 9.880377e-08 | 4.698546e-05 |
| PCC | exon_skip_65362 | rs1473290 | chr2:222945862 | 9.880377e-08 | 4.698546e-05 |
| PCC | exon_skip_65362 | rs705727 | chr2:222884844 | 7.673285e-07 | 2.757859e-04 |
| PCC | exon_skip_65362 | rs6739824 | chr2:222920786 | 7.673285e-07 | 2.757859e-04 |
| PCC | exon_skip_65362 | rs17780761 | chr2:222873025 | 1.204565e-04 | 1.989776e-02 |
| DLPFC | exon_skip_65362 | rs795887 | chr2:222893352 | 5.214697e-07 | 8.179141e-05 |
| DLPFC | exon_skip_65362 | rs4542842 | chr2:222902269 | 5.214697e-07 | 8.179141e-05 |
| DLPFC | exon_skip_65362 | rs10202154 | chr2:222937342 | 5.214697e-07 | 8.179141e-05 |
| DLPFC | exon_skip_65362 | rs1473290 | chr2:222945862 | 5.214697e-07 | 8.179141e-05 |
| DLPFC | exon_skip_65362 | rs10195273 | chr2:222913955 | 3.039997e-06 | 3.900233e-04 |
| DLPFC | exon_skip_65362 | rs705727 | chr2:222884844 | 3.224858e-06 | 4.105869e-04 |
| DLPFC | exon_skip_65362 | rs6739824 | chr2:222920786 | 3.224858e-06 | 4.105869e-04 |
| DLPFC | exon_skip_65362 | rs10932980 | chr2:222937668 | 5.715047e-06 | 6.838528e-04 |
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Correlation with RNA binding proteins (RBPs) for ACSL3 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | HNRNPL | exon_skip_130797 | -4.001221e-01 | 1.523053e-06 |
| CB | ZNF638 | exon_skip_65362 | -4.289935e-01 | 1.370616e-07 |
| CB | RBM6 | exon_skip_65362 | -4.257006e-01 | 1.747705e-07 |
| CB | TRA2A | exon_skip_65362 | -4.937043e-01 | 6.590643e-10 |
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RelatedDrugs for ACSL3 |
| 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 ACSL3 |
| 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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