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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 ACBD5 |
 Gene summary |
| Gene information | Gene symbol | ACBD5 | Gene ID | 91452 |
| Gene name | acyl-CoA binding domain containing 5 | |
| Synonyms | - | |
| Cytomap | 10p12.1 | |
| Type of gene | protein-coding | |
| Description | acyl-CoA-binding domain-containing protein 5acyl-Coenzyme A binding domain containing 5endozepine-related proteinmembrane-associated diazepam binding inhibitor | |
| 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 |
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Gene structures and expression levels for ACBD5 |
| 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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ENSG00000107897
| 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 |
| PG | UP | ENST00000375905.8 | ACBD5-204:protein_coding:ACBD5 | 2.982579e+02 | 9.011208e-01 | 5.387883e-05 | 1.735977e-03 |
| CB | UP | ENST00000426079.5 | ACBD5-207:protein_coding:ACBD5 | 3.968034e+01 | 8.067606e-01 | 4.820004e-08 | 1.143225e-06 |
| 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 ACBD5 |
| 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_137893 | chr10 | 27204447:27204549:27205198:27205248:27208246:27208270 | 27205198:27205248 |
| exon_skip_15854 | chr10 | 27197353:27197442:27204440:27204549:27205198:27205248 | 27204440:27204549 |
| exon_skip_171817 | chr10 | 27231748:27231820:27235092:27235212:27240319:27240481 | 27235092:27235212 |
| exon_skip_19261 | chr10 | 27204447:27204549:27205198:27205248:27208246:27208445 | 27205198:27205248 |
| exon_skip_204417 | chr10 | 27219723:27219857:27223207:27223239:27223338:27223421 | 27223207:27223239 |
| exon_skip_225898 | chr10 | 27215535:27215641:27217980:27218183:27219723:27219803 | 27217980:27218183 |
| exon_skip_230137 | chr10 | 27210814:27211081:27215535:27215641:27217980:27218183 | 27215535:27215641 |
| exon_skip_246939 | chr10 | 27205198:27205248:27208246:27208445:27210814:27211081 | 27208246:27208445 |
| exon_skip_268084 | chr10 | 27215535:27215641:27217980:27218183:27219723:27219857 | 27217980:27218183 |
| exon_skip_270087 | chr10 | 27220373:27220464:27223207:27223239:27223338:27223452 | 27223207:27223239 |
| exon_skip_273262 | chr10 | 27231748:27231820:27235092:27235212:27240319:27240484 | 27235092:27235212 |
| exon_skip_274990 | chr10 | 27219723:27219857:27220373:27220464:27223207:27223239 | 27220373:27220464 |
| exon_skip_281684 | chr10 | 27219723:27219857:27223207:27223239:27223338:27223452 | 27223207:27223239 |
| exon_skip_39308 | chr10 | 27208246:27208445:27210814:27211081:27215535:27215641 | 27210814:27211081 |
| exon_skip_40975 | chr10 | 27205198:27205248:27208246:27208445:27210814:27210859 | 27208246:27208445 |
| exon_skip_71525 | chr10 | 27219723:27219857:27223338:27223452:27231748:27231820 | 27223338:27223452 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_281684 | MSBB_STG | 2.604545e-01 | 3.733333e-01 | -1.128788e-01 | 1.500334e-02 |
| exon_skip_281684 | MSBB_PG | 1.540541e-01 | 2.656140e-01 | -1.115600e-01 | 7.101072e-06 |
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Open reading frame (ORF) annotation in the exon skipping event for ACBD5 |
| 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 |
| ENST00000375888 | 27204440 | 27204549 | Frame-shift |
| ENST00000375888 | 27208246 | 27208445 | Frame-shift |
| ENST00000375888 | 27210814 | 27211081 | Frame-shift |
| ENST00000375888 | 27235092 | 27235212 | Frame-shift |
| ENST00000375888 | 27205198 | 27205248 | In-frame |
| ENST00000375888 | 27217980 | 27218183 | In-frame |
| ENST00000375888 | 27223207 | 27223239 | 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 |
| ENST00000375888 | 27208246 | 27208445 | Frame-shift |
| ENST00000375888 | 27235092 | 27235212 | Frame-shift |
| ENST00000375888 | 27217980 | 27218183 | In-frame |
| ENST00000375888 | 27223207 | 27223239 | 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 |
| ENST00000375888 | 27204440 | 27204549 | Frame-shift |
| ENST00000375888 | 27208246 | 27208445 | Frame-shift |
| ENST00000375888 | 27210814 | 27211081 | Frame-shift |
| ENST00000375888 | 27215535 | 27215641 | Frame-shift |
| ENST00000375888 | 27235092 | 27235212 | Frame-shift |
| ENST00000375888 | 27205198 | 27205248 | In-frame |
| ENST00000375888 | 27217980 | 27218183 | In-frame |
| ENST00000375888 | 27223207 | 27223239 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ACBD5 |
p-ENSG00000107897_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 |
| ENST00000375888 | 1764 | 534 | 27223207 | 27223239 | 550 | 581 | 161 | 172 |
| ENST00000375888 | 1764 | 534 | 27217980 | 27218183 | 718 | 920 | 217 | 285 |
| ENST00000375888 | 1764 | 534 | 27205198 | 27205248 | 1497 | 1546 | 477 | 493 |
| 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 |
| ENST00000375888 | 1764 | 534 | 27223207 | 27223239 | 550 | 581 | 161 | 172 |
| ENST00000375888 | 1764 | 534 | 27217980 | 27218183 | 718 | 920 | 217 | 285 |
| 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 |
| ENST00000375888 | 1764 | 534 | 27223207 | 27223239 | 550 | 581 | 161 | 172 |
| ENST00000375888 | 1764 | 534 | 27217980 | 27218183 | 718 | 920 | 217 | 285 |
| ENST00000375888 | 1764 | 534 | 27205198 | 27205248 | 1497 | 1546 | 477 | 493 |
| 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 |
| Q5T8D3 | 161 | 172 | 162 | 172 | Alternative sequence | ID=VSP_025449;Note=In isoform 2%2C isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.1;Dbxref=PMID:14702039,PMID:15489334 |
| Q5T8D3 | 161 | 172 | 1 | 534 | Chain | ID=PRO_0000287377;Note=Acyl-CoA-binding domain-containing protein 5 |
| Q5T8D3 | 217 | 285 | 1 | 534 | Chain | ID=PRO_0000287377;Note=Acyl-CoA-binding domain-containing protein 5 |
| Q5T8D3 | 217 | 285 | 190 | 219 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5T8D3 | 217 | 285 | 279 | 279 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q5T8D3 | 477 | 493 | 1 | 534 | Chain | ID=PRO_0000287377;Note=Acyl-CoA-binding domain-containing protein 5 |
| Q5T8D3 | 477 | 493 | 478 | 478 | Sequence conflict | Note=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q5T8D3 | 161 | 172 | 162 | 172 | Alternative sequence | ID=VSP_025449;Note=In isoform 2%2C isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.1;Dbxref=PMID:14702039,PMID:15489334 |
| Q5T8D3 | 161 | 172 | 1 | 534 | Chain | ID=PRO_0000287377;Note=Acyl-CoA-binding domain-containing protein 5 |
| Q5T8D3 | 217 | 285 | 1 | 534 | Chain | ID=PRO_0000287377;Note=Acyl-CoA-binding domain-containing protein 5 |
| Q5T8D3 | 217 | 285 | 190 | 219 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5T8D3 | 217 | 285 | 279 | 279 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| 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 |
| Q5T8D3 | 161 | 172 | 162 | 172 | Alternative sequence | ID=VSP_025449;Note=In isoform 2%2C isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.1;Dbxref=PMID:14702039,PMID:15489334 |
| Q5T8D3 | 161 | 172 | 1 | 534 | Chain | ID=PRO_0000287377;Note=Acyl-CoA-binding domain-containing protein 5 |
| Q5T8D3 | 217 | 285 | 1 | 534 | Chain | ID=PRO_0000287377;Note=Acyl-CoA-binding domain-containing protein 5 |
| Q5T8D3 | 217 | 285 | 190 | 219 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5T8D3 | 217 | 285 | 279 | 279 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q5T8D3 | 477 | 493 | 1 | 534 | Chain | ID=PRO_0000287377;Note=Acyl-CoA-binding domain-containing protein 5 |
| Q5T8D3 | 477 | 493 | 478 | 478 | Sequence conflict | Note=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ACBD5 |
| 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 ACBD5 |
| - 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 ACBD5 |
| 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 ACBD5 |
| 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 ACBD5 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | MATR3 | exon_skip_281684 | 4.931858e-01 | 4.598171e-11 |
| CB | KHSRP | exon_skip_281684 | 4.571138e-01 | 1.565239e-09 |
| CB | NUP42 | exon_skip_281684 | 4.820033e-01 | 1.434556e-10 |
| CB | CELF1 | exon_skip_281684 | 4.906183e-01 | 5.992661e-11 |
| CB | PABPC1 | exon_skip_281684 | 4.606431e-01 | 1.128320e-09 |
| CB | SART3 | exon_skip_281684 | 5.344732e-01 | 4.727642e-13 |
| DLPFC | KHDRBS2 | exon_skip_281684 | 5.713348e-01 | 4.020313e-29 |
| FL | MSI1 | exon_skip_281684 | -5.915876e-01 | 5.507690e-20 |
| FL | MATR3 | exon_skip_281684 | 6.334947e-01 | 1.691223e-23 |
| FL | KHDRBS2 | exon_skip_281684 | 4.447537e-01 | 5.847481e-11 |
| FL | FUBP1 | exon_skip_281684 | 4.555111e-01 | 1.748878e-11 |
| FL | NUP42 | exon_skip_281684 | 4.190048e-01 | 8.904133e-10 |
| FL | CELF1 | exon_skip_281684 | 4.590857e-01 | 1.160052e-11 |
| FL | SART3 | exon_skip_281684 | 4.598668e-01 | 1.059839e-11 |
| HCC | MSI1 | exon_skip_281684 | -5.446326e-01 | 1.734257e-22 |
| HCC | PABPN1 | exon_skip_281684 | -4.266841e-01 | 1.666781e-13 |
| HCC | PABPC1 | exon_skip_281684 | -4.034568e-01 | 4.134060e-12 |
| IFG | MATR3 | exon_skip_281684 | 4.566381e-01 | 1.457970e-02 |
| PCC | MSI1 | exon_skip_281684 | -4.621715e-01 | 8.936760e-13 |
| PCC | PABPC1 | exon_skip_281684 | -4.054485e-01 | 6.502009e-10 |
| PG | MSI1 | exon_skip_281684 | -4.420251e-01 | 3.243466e-11 |
| PG | MATR3 | exon_skip_281684 | 4.764841e-01 | 5.137770e-13 |
| PG | KHDRBS2 | exon_skip_281684 | 4.767881e-01 | 4.942841e-13 |
| PG | CELF1 | exon_skip_281684 | 4.080134e-01 | 1.259493e-09 |
| STG | MSI1 | exon_skip_281684 | -5.397500e-01 | 4.024943e-08 |
| STG | MATR3 | exon_skip_281684 | 5.649047e-01 | 6.636082e-09 |
| STG | KHDRBS2 | exon_skip_281684 | 4.985403e-01 | 5.714928e-07 |
| TC | MATR3 | exon_skip_204417 | 6.744114e-01 | 1.431481e-22 |
| TC | KHDRBS2 | exon_skip_204417 | 7.178130e-01 | 1.255772e-26 |
| TC | NUP42 | exon_skip_204417 | 6.254225e-01 | 9.500676e-19 |
| TC | CELF1 | exon_skip_204417 | 5.874061e-01 | 3.225773e-16 |
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RelatedDrugs for ACBD5 |
| 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 ACBD5 |
| 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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