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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for DBI |
Gene summary |
Gene information | Gene symbol | DBI | Gene ID | 1622 |
Gene name | diazepam binding inhibitor, acyl-CoA binding protein | |
Synonyms | ACBD1|ACBP|CCK-RP|EP | |
Cytomap | 2q14.2 | |
Type of gene | protein-coding | |
Description | acyl-CoA-binding proteinGABA receptor modulatoracyl coenzyme A binding proteinacyl-Coenzyme A binding domain containing 1cholecystokinin-releasing peptide, trypsin-sensitivediazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein | |
Modification date | 20200320 | |
UniProtAcc | ||
Context | - 3210041(Diazepam Binding Inhibitor-Like Immunoreactivity (DBI-LI) in Human CSF. Correlations With Neurological Disorders) |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
DBI | GO:0036151 | phosphatidylcholine acyl-chain remodeling | 21079819 |
DBI | GO:1903060 | negative regulation of protein lipidation | 21079819 |
DBI | GO:1905920 | positive regulation of CoA-transferase activity | 21079819 |
DBI | GO:2001140 | positive regulation of phospholipid transport | 21079819 |
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Gene structures and expression levels for DBI |
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. |
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. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
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 DBI |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_187791 | chr2 | 119368188:119368305:119370740:119370802:119372245:119372407 | 119370740:119370802 |
exon_skip_204126 | chr2 | 119366989:119367060:119367559:119367644:119368188:119368305 | 119367559:119367644 |
exon_skip_20518 | chr2 | 119366989:119367060:119367559:119367644:119368188:119368213 | 119367559:119367644 |
exon_skip_228134 | chr2 | 119366989:119367060:119367559:119367644:119368188:119368250 | 119367559:119367644 |
exon_skip_231568 | chr2 | 119367070:119367214:119367559:119367644:119368188:119368305 | 119367559:119367644 |
exon_skip_34872 | chr2 | 119366977:119367060:119367403:119367528:119368188:119368305 | 119367403:119367528 |
exon_skip_38337 | chr2 | 119366989:119367060:119367559:119367644:119368188:119368214 | 119367559:119367644 |
exon_skip_51259 | chr2 | 119366924:119367090:119367559:119367644:119368188:119368305 | 119367559:119367644 |
exon_skip_66905 | chr2 | 119366924:119367090:119367559:119367644:119368188:119368213 | 119367559:119367644 |
exon_skip_91241 | chr2 | 119367070:119367214:119367559:119367644:119368188:119368214 | 119367559:119367644 |
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 DBI |
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 |
ENST00000355857 | 119370740 | 119370802 | 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 |
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 |
ENST00000355857 | 119370740 | 119370802 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DBI |
p-ENSG00000155368_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 |
ENST00000355857 | 654 | 87 | 119370740 | 119370802 | 260 | 321 | 43 | 63 |
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 |
ENST00000355857 | 654 | 87 | 119370740 | 119370802 | 260 | 321 | 43 | 63 |
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 |
P07108 | 43 | 63 | 43 | 87 | Alternative sequence | ID=VSP_044114;Note=In isoform 6. ERPGMLDFTGKAKWDAWNELKGTSKEDAMKAYINKVEELKKKYGI->GMQSGGWKGICSSKQAQQLRLEVPGNFTLKLPEALLFRWGMVMVPEVEKTMFRILSVSSSNRIQILVLEGLYWPSPAATLY;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:21698759;Dbxref=PMID:21698759 |
P07108 | 43 | 63 | 55 | 55 | Binding site | Note=Acyl-CoA;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:2CB8,ECO:0000269|PubMed:17044054;Dbxref=PMID:17044054 |
P07108 | 43 | 63 | 2 | 87 | Chain | ID=PRO_0000214004;Note=Acyl-CoA-binding protein |
P07108 | 43 | 63 | 2 | 87 | Domain | Note=ACB;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00573 |
P07108 | 43 | 63 | 50 | 60 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CB8 |
P07108 | 43 | 63 | 55 | 55 | Modified residue | Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
P07108 | 43 | 63 | 55 | 55 | Modified residue | Note=N6-malonyllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21908771;Dbxref=PMID:21908771 |
P07108 | 43 | 63 | 55 | 55 | Modified residue | Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P31786 |
P07108 | 43 | 63 | 61 | 64 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CB8 |
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 |
P07108 | 43 | 63 | 43 | 87 | Alternative sequence | ID=VSP_044114;Note=In isoform 6. ERPGMLDFTGKAKWDAWNELKGTSKEDAMKAYINKVEELKKKYGI->GMQSGGWKGICSSKQAQQLRLEVPGNFTLKLPEALLFRWGMVMVPEVEKTMFRILSVSSSNRIQILVLEGLYWPSPAATLY;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:21698759;Dbxref=PMID:21698759 |
P07108 | 43 | 63 | 55 | 55 | Binding site | Note=Acyl-CoA;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:2CB8,ECO:0000269|PubMed:17044054;Dbxref=PMID:17044054 |
P07108 | 43 | 63 | 2 | 87 | Chain | ID=PRO_0000214004;Note=Acyl-CoA-binding protein |
P07108 | 43 | 63 | 2 | 87 | Domain | Note=ACB;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00573 |
P07108 | 43 | 63 | 50 | 60 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CB8 |
P07108 | 43 | 63 | 55 | 55 | Modified residue | Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
P07108 | 43 | 63 | 55 | 55 | Modified residue | Note=N6-malonyllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21908771;Dbxref=PMID:21908771 |
P07108 | 43 | 63 | 55 | 55 | Modified residue | Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P31786 |
P07108 | 43 | 63 | 61 | 64 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CB8 |
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3'-UTR located exon skipping events that lost miRNA binding sites in DBI |
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 DBI |
- 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 DBI |
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 DBI |
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 DBI |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for DBI |
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 DBI |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |