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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 ACSM3 |
 Gene summary |
| Gene information | Gene symbol | ACSM3 | Gene ID | 6296 |
| Gene name | acyl-CoA synthetase medium chain family member 3 | |
| Synonyms | SA|SAH | |
| Cytomap | 16p12.3 | |
| Type of gene | protein-coding | |
| Description | acyl-coenzyme A synthetase ACSM3, mitochondrialSA (rat hypertension-associated) homologSA hypertension-associated homologbutyrate--CoA ligase 3butyryl-coenzyme A synthetase 3middle-chain acyl-CoA synthetase 3protein SA homolog | |
| Modification date | 20180523 | |
| UniProtAcc | Q53FZ2 | |
| Context | PubMed: ACSM3 [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 ACSM3 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 ACSM3 |
| 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 ACSM3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_134304 | 16 | 20685929:20686144:20690479:20690771:20760586:20760690 | 20690479:20690771 | ENSG00000005187.7 | ENST00000501740.2 |
| exon_skip_134328 | 16 | 20690485:20690771:20760586:20760690:20761231:20761325 | 20760586:20760690 | ENSG00000005187.7 | ENST00000501740.2 |
| exon_skip_134341 | 16 | 20766894:20766938:20781305:20781575:20787160:20787242 | 20781305:20781575 | ENSG00000005187.7 | ENST00000568235.1 |
| exon_skip_134342 | 16 | 20775361:20775447:20781305:20781575:20787160:20787242 | 20781305:20781575 | ENSG00000005187.7 | ENST00000440284.2,ENST00000289416.5 |
| exon_skip_134344 | 16 | 20788694:20788902:20791118:20791229:20792035:20792179 | 20791118:20791229 | ENSG00000005187.7 | ENST00000562251.1,ENST00000450120.2 |
| exon_skip_134347 | 16 | 20788694:20788902:20792035:20792179:20792295:20792452 | 20792035:20792179 | ENSG00000005187.7 | ENST00000440284.2,ENST00000289416.5 |
| exon_skip_134349 | 16 | 20793029:20793109:20796305:20796429:20797399:20797474 | 20796305:20796429 | ENSG00000005187.7 | ENST00000440284.2,ENST00000562251.1,ENST00000289416.5,ENST00000563914.1,ENST00000450120.2 |
| exon_skip_134354 | 16 | 20797399:20797480:20801908:20802010:20803323:20803451 | 20801908:20802010 | ENSG00000005187.7 | ENST00000562251.1,ENST00000289416.5,ENST00000567387.1,ENST00000450120.2 |
| exon_skip_134359 | 16 | 20803557:20803657:20807691:20807811:20808207:20808251 | 20807691:20807811 | ENSG00000005187.7 | ENST00000562251.1,ENST00000289416.5,ENST00000567387.1,ENST00000450120.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ACSM3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_134304 | 16 | 20685929:20686144:20690479:20690771:20760586:20760690 | 20690479:20690771 | ENSG00000005187.7 | ENST00000501740.2 |
| exon_skip_134328 | 16 | 20690485:20690771:20760586:20760690:20761231:20761325 | 20760586:20760690 | ENSG00000005187.7 | ENST00000501740.2 |
| exon_skip_134341 | 16 | 20766894:20766938:20781305:20781575:20787160:20787242 | 20781305:20781575 | ENSG00000005187.7 | ENST00000568235.1 |
| exon_skip_134342 | 16 | 20775361:20775447:20781305:20781575:20787160:20787242 | 20781305:20781575 | ENSG00000005187.7 | ENST00000289416.5,ENST00000440284.2 |
| exon_skip_134344 | 16 | 20788694:20788902:20791118:20791229:20792035:20792179 | 20791118:20791229 | ENSG00000005187.7 | ENST00000562251.1,ENST00000450120.2 |
| exon_skip_134347 | 16 | 20788694:20788902:20792035:20792179:20792295:20792452 | 20792035:20792179 | ENSG00000005187.7 | ENST00000289416.5,ENST00000440284.2 |
| exon_skip_134349 | 16 | 20793029:20793109:20796305:20796429:20797399:20797474 | 20796305:20796429 | ENSG00000005187.7 | ENST00000289416.5,ENST00000440284.2,ENST00000562251.1,ENST00000450120.2,ENST00000563914.1 |
| exon_skip_134354 | 16 | 20797399:20797480:20801908:20802010:20803323:20803451 | 20801908:20802010 | ENSG00000005187.7 | ENST00000289416.5,ENST00000562251.1,ENST00000450120.2,ENST00000567387.1 |
| exon_skip_134355 | 16 | 20797399:20797480:20801908:20802010:20807691:20807811 | 20801908:20802010 | ENSG00000005187.7 | ENST00000569141.1 |
| exon_skip_134356 | 16 | 20801908:20802010:20807691:20807811:20808207:20808251 | 20807691:20807811 | ENSG00000005187.7 | ENST00000569141.1 |
| exon_skip_134359 | 16 | 20803557:20803657:20807691:20807811:20808207:20808251 | 20807691:20807811 | ENSG00000005187.7 | ENST00000289416.5,ENST00000562251.1,ENST00000450120.2,ENST00000567387.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for ACSM3 |
| 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 |
| ENST00000289416 | 20781305 | 20781575 | 5CDS-5UTR |
| ENST00000289416 | 20796305 | 20796429 | Frame-shift |
| ENST00000289416 | 20792035 | 20792179 | In-frame |
| ENST00000289416 | 20801908 | 20802010 | In-frame |
| ENST00000289416 | 20807691 | 20807811 | 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 |
| ENST00000289416 | 20781305 | 20781575 | 5CDS-5UTR |
| ENST00000289416 | 20796305 | 20796429 | Frame-shift |
| ENST00000289416 | 20792035 | 20792179 | In-frame |
| ENST00000289416 | 20801908 | 20802010 | In-frame |
| ENST00000289416 | 20807691 | 20807811 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ACSM3 |
| 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 |
| ENST00000289416 | 2862 | 586 | 20792035 | 20792179 | 1114 | 1257 | 213 | 260 |
| ENST00000289416 | 2862 | 586 | 20801908 | 20802010 | 1700 | 1801 | 408 | 442 |
| ENST00000289416 | 2862 | 586 | 20807691 | 20807811 | 2030 | 2149 | 518 | 558 |
| 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 |
| ENST00000289416 | 2862 | 586 | 20792035 | 20792179 | 1114 | 1257 | 213 | 260 |
| ENST00000289416 | 2862 | 586 | 20801908 | 20802010 | 1700 | 1801 | 408 | 442 |
| ENST00000289416 | 2862 | 586 | 20807691 | 20807811 | 2030 | 2149 | 518 | 558 |
| 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 |
| Q53FZ2 | 213 | 260 | 28 | 586 | Chain | ID=PRO_0000306097;Note=Acyl-coenzyme A synthetase ACSM3%2C mitochondrial |
| Q53FZ2 | 213 | 260 | 235 | 243 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q53FZ2 | 213 | 260 | 237 | 237 | Sequence conflict | Note=G->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q53FZ2 | 213 | 260 | 245 | 245 | Sequence conflict | Note=T->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q53FZ2 | 408 | 442 | 409 | 438 | Alternative sequence | ID=VSP_028395;Note=In isoform 2. IVDVNGNVLPPGQEGDIGIQVLPNRPFGLF->VCTSPSRRMFNNPICTLPTYRLPPYKLSLL;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:7843754;Dbxref=PMID:15489334,PMID:7843754 |
| Q53FZ2 | 408 | 442 | 439 | 586 | Alternative sequence | ID=VSP_028396;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:7843754;Dbxref=PMID:15489334,PMID:7843754 |
| Q53FZ2 | 408 | 442 | 28 | 586 | Chain | ID=PRO_0000306097;Note=Acyl-coenzyme A synthetase ACSM3%2C mitochondrial |
| Q53FZ2 | 518 | 558 | 439 | 586 | Alternative sequence | ID=VSP_028396;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:7843754;Dbxref=PMID:15489334,PMID:7843754 |
| Q53FZ2 | 518 | 558 | 28 | 586 | Chain | ID=PRO_0000306097;Note=Acyl-coenzyme A synthetase ACSM3%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 |
| Q53FZ2 | 213 | 260 | 28 | 586 | Chain | ID=PRO_0000306097;Note=Acyl-coenzyme A synthetase ACSM3%2C mitochondrial |
| Q53FZ2 | 213 | 260 | 235 | 243 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q53FZ2 | 213 | 260 | 237 | 237 | Sequence conflict | Note=G->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q53FZ2 | 213 | 260 | 245 | 245 | Sequence conflict | Note=T->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q53FZ2 | 408 | 442 | 409 | 438 | Alternative sequence | ID=VSP_028395;Note=In isoform 2. IVDVNGNVLPPGQEGDIGIQVLPNRPFGLF->VCTSPSRRMFNNPICTLPTYRLPPYKLSLL;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:7843754;Dbxref=PMID:15489334,PMID:7843754 |
| Q53FZ2 | 408 | 442 | 439 | 586 | Alternative sequence | ID=VSP_028396;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:7843754;Dbxref=PMID:15489334,PMID:7843754 |
| Q53FZ2 | 408 | 442 | 28 | 586 | Chain | ID=PRO_0000306097;Note=Acyl-coenzyme A synthetase ACSM3%2C mitochondrial |
| Q53FZ2 | 518 | 558 | 439 | 586 | Alternative sequence | ID=VSP_028396;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:7843754;Dbxref=PMID:15489334,PMID:7843754 |
| Q53FZ2 | 518 | 558 | 28 | 586 | Chain | ID=PRO_0000306097;Note=Acyl-coenzyme A synthetase ACSM3%2C mitochondrial |
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SNVs in the skipped exons for ACSM3 |
| - 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 |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_134342 exon_skip_134341 | 20781306 | 20781575 | 20781418 | 20781418 | Frame_Shift_Del | T | - | p.I21fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_134342 exon_skip_134341 | 20781306 | 20781575 | 20781512 | 20781512 | Frame_Shift_Del | G | - | p.L52fs |
| KIRC | TCGA-B0-5098-01 | exon_skip_134349 | 20796306 | 20796429 | 20796371 | 20796371 | Frame_Shift_Del | A | - | p.E362fs |
| STAD | TCGA-CD-A4MI-01 | exon_skip_134349 | 20796306 | 20796429 | 20796371 | 20796371 | Frame_Shift_Del | A | - | p.E362fs |
| STAD | TCGA-CD-A4MI-01 | exon_skip_134349 | 20796306 | 20796429 | 20796371 | 20796371 | Frame_Shift_Del | A | - | p.E391fs |
| STAD | TCGA-R5-A7ZI-01 | exon_skip_134359 | 20807692 | 20807811 | 20807776 | 20807776 | Frame_Shift_Del | A | - | p.K548fs |
| STAD | TCGA-R5-A7ZI-01 | exon_skip_134359 | 20807692 | 20807811 | 20807776 | 20807776 | Frame_Shift_Del | A | - | p.V546fs |
| COAD | TCGA-D5-6930-01 | exon_skip_134359 | 20807692 | 20807811 | 20807775 | 20807776 | Frame_Shift_Ins | - | A | p.V546fs |
| STAD | TCGA-BR-4361-01 | exon_skip_134359 | 20807692 | 20807811 | 20807775 | 20807776 | Frame_Shift_Ins | - | A | p.V546fs |
| STAD | TCGA-BR-4361-01 | exon_skip_134359 | 20807692 | 20807811 | 20807776 | 20807777 | Frame_Shift_Ins | - | A | p.V575fs |
| HNSC | TCGA-CV-5430-01 | exon_skip_134342 exon_skip_134341 | 20781306 | 20781575 | 20781560 | 20781560 | Nonsense_Mutation | G | A | p.W68* |
| LUSC | TCGA-66-2756-01 | exon_skip_134354 | 20801909 | 20802010 | 20802007 | 20802007 | Nonsense_Mutation | C | G | p.Y470* |
| UCEC | TCGA-B5-A11N-01 | exon_skip_134359 | 20807692 | 20807811 | 20807743 | 20807743 | Nonsense_Mutation | G | T | p.E536* |
| UCEC | TCGA-DI-A0WH-01 | exon_skip_134354 | 20801909 | 20802010 | 20801907 | 20801907 | Splice_Site | A | G | p.I438_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 |
| CW2_LARGE_INTESTINE | 20807692 | 20807811 | 20807776 | 20807776 | Frame_Shift_Del | A | - | p.K548fs |
| SNU1040_LARGE_INTESTINE | 20807692 | 20807811 | 20807776 | 20807776 | Frame_Shift_Del | A | - | p.K548fs |
| KM12_LARGE_INTESTINE | 20796306 | 20796429 | 20796315 | 20796316 | Frame_Shift_Ins | - | A | p.K344fs |
| EN_ENDOMETRIUM | 20807692 | 20807811 | 20807775 | 20807776 | Frame_Shift_Ins | - | A | p.K547fs |
| LS411N_LARGE_INTESTINE | 20781306 | 20781575 | 20781391 | 20781391 | Missense_Mutation | A | G | p.H12R |
| MKN74_STOMACH | 20781306 | 20781575 | 20781408 | 20781408 | Missense_Mutation | C | T | p.R18C |
| MKN28_STOMACH | 20781306 | 20781575 | 20781408 | 20781408 | Missense_Mutation | C | T | p.R18C |
| CCK81_LARGE_INTESTINE | 20781306 | 20781575 | 20781412 | 20781412 | Missense_Mutation | T | C | p.L19P |
| SW684_SOFT_TISSUE | 20781306 | 20781575 | 20781471 | 20781471 | Missense_Mutation | A | C | p.N39H |
| RL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20781306 | 20781575 | 20781500 | 20781500 | Missense_Mutation | G | T | p.Q48H |
| KYSE50_OESOPHAGUS | 20781306 | 20781575 | 20781565 | 20781565 | Missense_Mutation | A | T | p.D70V |
| SEKI_SKIN | 20792036 | 20792179 | 20792107 | 20792107 | Missense_Mutation | G | A | p.G237E |
| K029AX_SKIN | 20796306 | 20796429 | 20796410 | 20796410 | Missense_Mutation | G | A | p.G375E |
| C8166_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20796306 | 20796429 | 20796420 | 20796420 | Missense_Mutation | G | C | p.Q378H |
| KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20801909 | 20802010 | 20801979 | 20801979 | Missense_Mutation | A | G | p.N432S |
| HEC59_ENDOMETRIUM | 20801909 | 20802010 | 20801981 | 20801981 | Nonsense_Mutation | C | T | p.R433* |
| NALM19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20796306 | 20796429 | 20796428 | 20796428 | Splice_Site | C | T | p.T381M |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ACSM3 |
| 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 |
| exon_skip_134349 | 16 | 20793029:20793109:20796305:20796429:20797399:20797474 | 20796305:20796429 | ENST00000440284.2,ENST00000562251.1,ENST00000289416.5,ENST00000563914.1,ENST00000450120.2 | KIRP | rs5716 | chr16:20796387 | C/G | 7.69e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ACSM3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ACSM3 |
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RelatedDrugs for ACSM3 |
| 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 |
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RelatedDiseases for ACSM3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ACSM3 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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