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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 ACOT8 |
 Gene summary |
| Gene information | Gene symbol | ACOT8 | Gene ID | 10005 |
| Gene name | acyl-CoA thioesterase 8 | |
| Synonyms | HNAACTE|NAP1|PTE-1|PTE-2|PTE1|PTE2|hACTE-III|hTE | |
| Cytomap | 20q13.12 | |
| Type of gene | protein-coding | |
| Description | acyl-coenzyme A thioesterase 8HIV-Nef associated acyl-CoA thioesteraseNef (lentivirus myristoylated factor) associated protein 1choloyl-CoA hydrolasecholoyl-coenzyme A thioesteraselong-chain fatty-acyl-CoA hydrolasepalmitoyl-CoA hydrolaseperoxisoma | |
| Modification date | 20180523 | |
| UniProtAcc | O14734 | |
| Context | PubMed: ACOT8 [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 |
| ACOT8 | GO:0006637 | acyl-CoA metabolic process | 9153233|9299485 |
| ACOT8 | GO:0016559 | peroxisome fission | 15194431 |
| ACOT8 | GO:0043649 | dicarboxylic acid catabolic process | 16141203 |
| ACOT8 | GO:0045225 | negative regulation of CD4 biosynthetic process | 9153233 |
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Exon skipping events across known transcript of Ensembl for ACOT8 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 ACOT8 |
| 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 ACOT8 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_357426 | 20 | 44470403:44470595:44472165:44472360:44472901:44473059 | 44472165:44472360 | ENSG00000101473.12 | ENST00000217455.4,ENST00000488679.1 |
| exon_skip_357428 | 20 | 44470403:44470595:44472165:44472411:44472901:44473059 | 44472165:44472411 | ENSG00000101473.12 | ENST00000461272.1 |
| exon_skip_357431 | 20 | 44470403:44470595:44472901:44473059:44477088:44477314 | 44472901:44473059 | ENSG00000101473.12 | ENST00000487205.1 |
| exon_skip_357432 | 20 | 44472901:44473059:44477088:44477314:44483797:44483923 | 44477088:44477314 | ENSG00000101473.12 | ENST00000217455.4,ENST00000484783.1,ENST00000487205.1,ENST00000461272.1 |
| exon_skip_357433 | 20 | 44472901:44473059:44477088:44477314:44485826:44485835 | 44477088:44477314 | ENSG00000101473.12 | ENST00000493118.1,ENST00000488679.1 |
| exon_skip_357435 | 20 | 44477171:44477314:44482561:44482618:44483797:44483923 | 44482561:44482618 | ENSG00000101473.12 | ENST00000481938.1 |
| exon_skip_357438 | 20 | 44477171:44477314:44482561:44482623:44483797:44483923 | 44482561:44482623 | ENSG00000101473.12 | ENST00000486165.1 |
| exon_skip_357443 | 20 | 44477171:44477314:44483797:44483931:44485826:44485835 | 44483797:44483931 | ENSG00000101473.12 | ENST00000484783.1,ENST00000461272.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ACOT8 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_357426 | 20 | 44470403:44470595:44472165:44472360:44472901:44473059 | 44472165:44472360 | ENSG00000101473.12 | ENST00000217455.4,ENST00000488679.1 |
| exon_skip_357428 | 20 | 44470403:44470595:44472165:44472411:44472901:44473059 | 44472165:44472411 | ENSG00000101473.12 | ENST00000461272.1 |
| exon_skip_357431 | 20 | 44470403:44470595:44472901:44473059:44477088:44477314 | 44472901:44473059 | ENSG00000101473.12 | ENST00000487205.1 |
| exon_skip_357432 | 20 | 44472901:44473059:44477088:44477314:44483797:44483923 | 44477088:44477314 | ENSG00000101473.12 | ENST00000217455.4,ENST00000461272.1,ENST00000487205.1,ENST00000484783.1 |
| exon_skip_357433 | 20 | 44472901:44473059:44477088:44477314:44485826:44485835 | 44477088:44477314 | ENSG00000101473.12 | ENST00000488679.1,ENST00000493118.1 |
| exon_skip_357435 | 20 | 44477171:44477314:44482561:44482618:44483797:44483923 | 44482561:44482618 | ENSG00000101473.12 | ENST00000481938.1 |
| exon_skip_357438 | 20 | 44477171:44477314:44482561:44482623:44483797:44483923 | 44482561:44482623 | ENSG00000101473.12 | ENST00000486165.1 |
| exon_skip_357443 | 20 | 44477171:44477314:44483797:44483931:44485826:44485835 | 44483797:44483931 | ENSG00000101473.12 | ENST00000461272.1,ENST00000484783.1 |
| 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 ACOT8 |
| 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 |
| ENST00000217455 | 44477088 | 44477314 | Frame-shift |
| ENST00000217455 | 44472165 | 44472360 | 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 |
| ENST00000217455 | 44477088 | 44477314 | Frame-shift |
| ENST00000217455 | 44472165 | 44472360 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ACOT8 |
| 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 |
| ENST00000217455 | 1185 | 319 | 44472165 | 44472360 | 738 | 932 | 215 | 280 |
| 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 |
| ENST00000217455 | 1185 | 319 | 44472165 | 44472360 | 738 | 932 | 215 | 280 |
| 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 |
| O14734 | 215 | 280 | 232 | 232 | Active site | Note=Charge relay system;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O14734 | 215 | 280 | 254 | 254 | Active site | Note=Charge relay system;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O14734 | 215 | 280 | 1 | 319 | Chain | ID=PRO_0000202152;Note=Acyl-coenzyme A thioesterase 8 |
| 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 |
| O14734 | 215 | 280 | 232 | 232 | Active site | Note=Charge relay system;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O14734 | 215 | 280 | 254 | 254 | Active site | Note=Charge relay system;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O14734 | 215 | 280 | 1 | 319 | Chain | ID=PRO_0000202152;Note=Acyl-coenzyme A thioesterase 8 |
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SNVs in the skipped exons for ACOT8 |
| - 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_357426 | 44472166 | 44472360 | 44472323 | 44472323 | Frame_Shift_Del | G | - | p.A228fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_357428 | 44472166 | 44472411 | 44472323 | 44472323 | Frame_Shift_Del | G | - | p.A228fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_357431 | 44472902 | 44473059 | 44472965 | 44472965 | Frame_Shift_Del | G | - | p.L195fs |
| STAD | TCGA-BR-8078-01 | exon_skip_357431 | 44472902 | 44473059 | 44472965 | 44472965 | Frame_Shift_Del | G | - | p.L195fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_357433 exon_skip_357432 | 44477089 | 44477314 | 44477140 | 44477140 | Frame_Shift_Del | G | - | p.P148fs |
| STAD | TCGA-HU-A4H8-01 | exon_skip_357431 | 44472902 | 44473059 | 44472920 | 44472920 | Nonsense_Mutation | G | A | p.R210* |
| STAD | TCGA-HU-A4H8-01 | exon_skip_357431 | 44472902 | 44473059 | 44472920 | 44472920 | Nonsense_Mutation | G | A | p.R210X |
| BLCA | TCGA-GU-A764-01 | exon_skip_357431 | 44472902 | 44473059 | 44472959 | 44472959 | Nonsense_Mutation | G | A | p.Q197* |
| COAD | TCGA-AA-A00J-01 | exon_skip_357433 exon_skip_357432 | 44477089 | 44477314 | 44477303 | 44477304 | Nonsense_Mutation | - | AATCA | p.L92_P93delinsX |
| - 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 |
| HO1N1_UPPER_AERODIGESTIVE_TRACT | 44477089 | 44477314 | 44477222 | 44477223 | Frame_Shift_Ins | - | C | p.K119fs |
| LNCAPCLONEFGC_PROSTATE | 44472166 | 44472411 | 44472193 | 44472193 | Missense_Mutation | G | A | p.L272F |
| LNCAPCLONEFGC_PROSTATE | 44472166 | 44472360 | 44472193 | 44472193 | Missense_Mutation | G | A | p.L272F |
| JHUEM2_ENDOMETRIUM | 44472166 | 44472411 | 44472331 | 44472331 | Missense_Mutation | C | T | p.V226M |
| JHUEM2_ENDOMETRIUM | 44472166 | 44472360 | 44472331 | 44472331 | Missense_Mutation | C | T | p.V226M |
| SNU840_OVARY | 44472166 | 44472411 | 44472331 | 44472331 | Missense_Mutation | C | T | p.V226M |
| SNU840_OVARY | 44472166 | 44472360 | 44472331 | 44472331 | Missense_Mutation | C | T | p.V226M |
| LU165_LUNG | 44472166 | 44472411 | 44472352 | 44472352 | Missense_Mutation | C | T | p.D219N |
| LU165_LUNG | 44472166 | 44472360 | 44472352 | 44472352 | Missense_Mutation | C | T | p.D219N |
| CW2_LARGE_INTESTINE | 44472166 | 44472411 | 44472356 | 44472356 | Missense_Mutation | C | A | p.E217D |
| CW2_LARGE_INTESTINE | 44472166 | 44472360 | 44472356 | 44472356 | Missense_Mutation | C | A | p.E217D |
| NB12_AUTONOMIC_GANGLIA | 44472902 | 44473059 | 44473018 | 44473018 | Missense_Mutation | C | T | p.R177Q |
| YKG1_CENTRAL_NERVOUS_SYSTEM | 44477089 | 44477314 | 44477228 | 44477228 | Missense_Mutation | G | A | p.H117Y |
| KYSE150_OESOPHAGUS | 44477089 | 44477314 | 44477249 | 44477249 | Missense_Mutation | G | A | p.R110C |
| SNU478_BILIARY_TRACT | 44477089 | 44477314 | 44477279 | 44477279 | Missense_Mutation | G | A | p.R100W |
| SISO_CERVIX | 44483798 | 44483931 | 44483904 | 44483904 | Missense_Mutation | C | A | p.K52N |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 44483798 | 44483931 | 44483904 | 44483904 | Missense_Mutation | C | A | p.K52N |
| HSC39_STOMACH | 44472902 | 44473059 | 44473019 | 44473019 | Nonsense_Mutation | G | A | p.R177* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ACOT8 |
| 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 ACOT8 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ACOT8 |
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RelatedDrugs for ACOT8 |
| 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 ACOT8 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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