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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 ACBD4 |
 Gene summary |
| Gene information | Gene symbol | ACBD4 | Gene ID | 79777 |
| Gene name | acyl-CoA binding domain containing 4 | |
| Synonyms | HMFT0700 | |
| Cytomap | 17q21.31 | |
| Type of gene | protein-coding | |
| Description | acyl-CoA-binding domain-containing protein 4acyl-Coenzyme A binding domain containing 4 | |
| Modification date | 20200320 | |
| 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 ACBD4 |
| 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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ENSG00000181513
| 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 | DOWN | ENST00000321854.12 | ACBD4-201:protein_coding:ACBD4 | 1.757906e+02 | -9.739017e-01 | 1.298045e-06 | 1.869898e-05 |
| 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 ACBD4 |
| 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_108529 | chr17 | 45136707:45136776:45137019:45137139:45137368:45137454 | 45137019:45137139 |
| exon_skip_113964 | chr17 | 45137923:45137988:45139021:45139160:45142583:45142610 | 45139021:45139160 |
| exon_skip_157877 | chr17 | 45135842:45135953:45136108:45136232:45136500:45136620 | 45136108:45136232 |
| exon_skip_160648 | chr17 | 45136692:45136776:45137019:45137139:45137368:45137454 | 45137019:45137139 |
| exon_skip_178680 | chr17 | 45136201:45136232:45136500:45136620:45136692:45136776 | 45136500:45136620 |
| exon_skip_184442 | chr17 | 45137923:45137988:45139021:45139160:45143443:45143850 | 45139021:45139160 |
| exon_skip_18778 | chr17 | 45132631:45132663:45133031:45133201:45135341:45135591 | 45133031:45133201 |
| exon_skip_193246 | chr17 | 45135341:45135592:45135839:45135953:45136108:45136232 | 45135839:45135953 |
| exon_skip_199011 | chr17 | 45137019:45137139:45137368:45137454:45137760:45137830 | 45137368:45137454 |
| exon_skip_253349 | chr17 | 45136757:45136776:45137019:45137139:45137368:45137454 | 45137019:45137139 |
| exon_skip_275288 | chr17 | 45135862:45135953:45136108:45136232:45136500:45136620 | 45136108:45136232 |
| exon_skip_292656 | chr17 | 45137923:45137988:45139021:45139160:45143443:45143567 | 45139021:45139160 |
| exon_skip_3845 | chr17 | 45137928:45137988:45139021:45139160:45143443:45143850 | 45139021:45139160 |
| exon_skip_59438 | chr17 | 45136108:45136232:45136500:45136620:45136692:45136776 | 45136500:45136620 |
| exon_skip_67217 | chr17 | 45132631:45132663:45133031:45133201:45135341:45135592 | 45133031:45133201 |
| 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 ACBD4 |
| 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 |
| ENST00000376955 | 45136108 | 45136232 | 5CDS-5UTR |
| ENST00000619916 | 45136108 | 45136232 | 5CDS-5UTR |
| ENST00000376955 | 45136500 | 45136620 | Frame-shift |
| ENST00000619916 | 45136500 | 45136620 | Frame-shift |
| ENST00000376955 | 45137019 | 45137139 | Frame-shift |
| ENST00000619916 | 45137019 | 45137139 | Frame-shift |
| ENST00000376955 | 45137368 | 45137454 | In-frame |
| ENST00000619916 | 45137368 | 45137454 | 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 |
| ENST00000376955 | 45136108 | 45136232 | 5CDS-5UTR |
| ENST00000619916 | 45136108 | 45136232 | 5CDS-5UTR |
| ENST00000376955 | 45136500 | 45136620 | Frame-shift |
| ENST00000619916 | 45136500 | 45136620 | Frame-shift |
| ENST00000376955 | 45137019 | 45137139 | Frame-shift |
| ENST00000619916 | 45137019 | 45137139 | Frame-shift |
| ENST00000376955 | 45137368 | 45137454 | In-frame |
| ENST00000619916 | 45137368 | 45137454 | 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 |
| ENST00000376955 | 45136108 | 45136232 | 5CDS-5UTR |
| ENST00000619916 | 45136108 | 45136232 | 5CDS-5UTR |
| ENST00000376955 | 45136500 | 45136620 | Frame-shift |
| ENST00000619916 | 45136500 | 45136620 | Frame-shift |
| ENST00000376955 | 45137019 | 45137139 | Frame-shift |
| ENST00000619916 | 45137019 | 45137139 | Frame-shift |
| ENST00000376955 | 45139021 | 45139160 | Frame-shift |
| ENST00000619916 | 45139021 | 45139160 | Frame-shift |
| ENST00000376955 | 45137368 | 45137454 | In-frame |
| ENST00000619916 | 45137368 | 45137454 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ACBD4 |
p-ENSG00000181513_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 |
| ENST00000376955 | 1470 | 268 | 45137368 | 45137454 | 714 | 799 | 139 | 167 |
| ENST00000619916 | 1293 | 268 | 45137368 | 45137454 | 886 | 971 | 139 | 167 |
| 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 |
| ENST00000376955 | 1470 | 268 | 45137368 | 45137454 | 714 | 799 | 139 | 167 |
| ENST00000619916 | 1293 | 268 | 45137368 | 45137454 | 886 | 971 | 139 | 167 |
| 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 |
| ENST00000376955 | 1470 | 268 | 45137368 | 45137454 | 714 | 799 | 139 | 167 |
| ENST00000619916 | 1293 | 268 | 45137368 | 45137454 | 886 | 971 | 139 | 167 |
| 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 |
| Q8NC06 | 139 | 167 | 1 | 268 | Chain | ID=PRO_0000214032;Note=Acyl-CoA-binding domain-containing protein 4 |
| Q8NC06 | 139 | 167 | 1 | 268 | Chain | ID=PRO_0000214032;Note=Acyl-CoA-binding domain-containing protein 4 |
| Q8NC06 | 139 | 167 | 166 | 166 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q8NC06 | 139 | 167 | 166 | 166 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q8NC06 | 139 | 167 | 166 | 166 | Sequence conflict | Note=S->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8NC06 | 139 | 167 | 166 | 166 | Sequence conflict | Note=S->G;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 |
| Q8NC06 | 139 | 167 | 1 | 268 | Chain | ID=PRO_0000214032;Note=Acyl-CoA-binding domain-containing protein 4 |
| Q8NC06 | 139 | 167 | 1 | 268 | Chain | ID=PRO_0000214032;Note=Acyl-CoA-binding domain-containing protein 4 |
| Q8NC06 | 139 | 167 | 166 | 166 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q8NC06 | 139 | 167 | 166 | 166 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q8NC06 | 139 | 167 | 166 | 166 | Sequence conflict | Note=S->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8NC06 | 139 | 167 | 166 | 166 | Sequence conflict | Note=S->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q8NC06 | 139 | 167 | 1 | 268 | Chain | ID=PRO_0000214032;Note=Acyl-CoA-binding domain-containing protein 4 |
| Q8NC06 | 139 | 167 | 1 | 268 | Chain | ID=PRO_0000214032;Note=Acyl-CoA-binding domain-containing protein 4 |
| Q8NC06 | 139 | 167 | 166 | 166 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q8NC06 | 139 | 167 | 166 | 166 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q8NC06 | 139 | 167 | 166 | 166 | Sequence conflict | Note=S->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8NC06 | 139 | 167 | 166 | 166 | Sequence conflict | Note=S->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ACBD4 |
| 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 ACBD4 |
| - 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 ACBD4 |
| 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 ACBD4 |
| 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 ACBD4 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for ACBD4 |
| 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 ACBD4 |
| 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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