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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 OSBPL1A |
 Gene summary |
| Gene information | Gene symbol | OSBPL1A | Gene ID | 114876 |
| Gene name | oxysterol binding protein like 1A | |
| Synonyms | ORP-1|ORP1|OSBPL1B | |
| Cytomap | 18q11.2 | |
| Type of gene | protein-coding | |
| Description | oxysterol-binding protein-related protein 1OSBP-related protein 1oxysterol binding protein-like 1Boxysterol-binding protein-related protein 1 variant 1oxysterol-binding protein-related protein 1 variant 2 | |
| 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 OSBPL1A |
| 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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ENSG00000141447
| 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 OSBPL1A |
| 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_130024 | chr18 | 24179738:24179835:24181145:24181279:24196125:24196200 | 24181145:24181279 |
| exon_skip_144761 | chr18 | 24172376:24172483:24178013:24178195:24179738:24179748 | 24178013:24178195 |
| exon_skip_14996 | chr18 | 24196125:24196200:24225042:24225198:24239220:24239382 | 24225042:24225198 |
| exon_skip_150054 | chr18 | 24181145:24181279:24196125:24196200:24225042:24225198 | 24196125:24196200 |
| exon_skip_162821 | chr18 | 24357125:24358511:24366892:24366966:24368287:24368372 | 24366892:24366966 |
| exon_skip_166685 | chr18 | 24341547:24341658:24368367:24368372:24377413:24377535 | 24368367:24368372 |
| exon_skip_17378 | chr18 | 24280842:24280948:24301293:24301324:24303637:24303718 | 24301293:24301324 |
| exon_skip_183727 | chr18 | 24171480:24171498:24172376:24172483:24178013:24178195 | 24172376:24172483 |
| exon_skip_187486 | chr18 | 24280842:24280948:24302389:24302751:24303637:24303718 | 24302389:24302751 |
| exon_skip_197388 | chr18 | 24165065:24165155:24166579:24166702:24167329:24167445 | 24166579:24166702 |
| exon_skip_223939 | chr18 | 24172464:24172483:24178013:24178195:24179738:24179835 | 24178013:24178195 |
| exon_skip_247457 | chr18 | 24239220:24239382:24280842:24280948:24303637:24303718 | 24280842:24280948 |
| exon_skip_249541 | chr18 | 24172376:24172483:24178013:24178195:24179738:24179835 | 24178013:24178195 |
| exon_skip_2544 | chr18 | 24181181:24181279:24196125:24196200:24225042:24225198 | 24196125:24196200 |
| exon_skip_255621 | chr18 | 24225067:24225198:24239220:24239382:24271622:24271685 | 24239220:24239382 |
| exon_skip_256586 | chr18 | 24163157:24163281:24165065:24165155:24166579:24166702 | 24165065:24165155 |
| exon_skip_261001 | chr18 | 24368367:24368372:24368546:24368589:24377413:24377535 | 24368546:24368589 |
| exon_skip_282412 | chr18 | 24341547:24341658:24366892:24366966:24368287:24368372 | 24366892:24366966 |
| exon_skip_40257 | chr18 | 24334245:24334330:24341547:24341658:24366892:24366966 | 24341547:24341658 |
| exon_skip_48300 | chr18 | 24196136:24196200:24225042:24225198:24239220:24239382 | 24225042:24225198 |
| exon_skip_63508 | chr18 | 24368287:24368372:24368546:24368589:24377413:24377535 | 24368546:24368589 |
| exon_skip_6946 | chr18 | 24179814:24179835:24181145:24181279:24196125:24196200 | 24181145:24181279 |
| 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 OSBPL1A |
| 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 |
| ENST00000319481 | 24165065 | 24165155 | Frame-shift |
| ENST00000319481 | 24166579 | 24166702 | Frame-shift |
| ENST00000319481 | 24196125 | 24196200 | Frame-shift |
| ENST00000319481 | 24225042 | 24225198 | Frame-shift |
| ENST00000319481 | 24280842 | 24280948 | Frame-shift |
| ENST00000319481 | 24341547 | 24341658 | Frame-shift |
| ENST00000319481 | 24172376 | 24172483 | In-frame |
| ENST00000319481 | 24178013 | 24178195 | In-frame |
| ENST00000319481 | 24181145 | 24181279 | In-frame |
| ENST00000319481 | 24366892 | 24366966 | 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 |
| ENST00000319481 | 24196125 | 24196200 | Frame-shift |
| ENST00000319481 | 24341547 | 24341658 | Frame-shift |
| ENST00000319481 | 24172376 | 24172483 | In-frame |
| ENST00000319481 | 24178013 | 24178195 | In-frame |
| ENST00000319481 | 24181145 | 24181279 | In-frame |
| ENST00000319481 | 24366892 | 24366966 | 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 |
| ENST00000319481 | 24165065 | 24165155 | Frame-shift |
| ENST00000319481 | 24196125 | 24196200 | Frame-shift |
| ENST00000319481 | 24225042 | 24225198 | Frame-shift |
| ENST00000319481 | 24341547 | 24341658 | Frame-shift |
| ENST00000319481 | 24172376 | 24172483 | In-frame |
| ENST00000319481 | 24178013 | 24178195 | In-frame |
| ENST00000319481 | 24181145 | 24181279 | In-frame |
| ENST00000319481 | 24366892 | 24366966 | In-frame |
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Infer the effects of exon skipping event on protein functional features for OSBPL1A |
p-ENSG00000141447_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 |
| ENST00000319481 | 4212 | 950 | 24366892 | 24366966 | 415 | 488 | 69 | 93 |
| ENST00000319481 | 4212 | 950 | 24181145 | 24181279 | 1885 | 2018 | 559 | 603 |
| ENST00000319481 | 4212 | 950 | 24178013 | 24178195 | 2118 | 2299 | 637 | 697 |
| ENST00000319481 | 4212 | 950 | 24172376 | 24172483 | 2301 | 2407 | 698 | 733 |
| 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 |
| ENST00000319481 | 4212 | 950 | 24366892 | 24366966 | 415 | 488 | 69 | 93 |
| ENST00000319481 | 4212 | 950 | 24181145 | 24181279 | 1885 | 2018 | 559 | 603 |
| ENST00000319481 | 4212 | 950 | 24178013 | 24178195 | 2118 | 2299 | 637 | 697 |
| ENST00000319481 | 4212 | 950 | 24172376 | 24172483 | 2301 | 2407 | 698 | 733 |
| 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 |
| ENST00000319481 | 4212 | 950 | 24366892 | 24366966 | 415 | 488 | 69 | 93 |
| ENST00000319481 | 4212 | 950 | 24181145 | 24181279 | 1885 | 2018 | 559 | 603 |
| ENST00000319481 | 4212 | 950 | 24178013 | 24178195 | 2118 | 2299 | 637 | 697 |
| ENST00000319481 | 4212 | 950 | 24172376 | 24172483 | 2301 | 2407 | 698 | 733 |
| 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 |
| Q9BXW6 | 69 | 93 | 1 | 513 | Alternative sequence | ID=VSP_003779;Note=In isoform A. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11279184,ECO:0000303|PubMed:11735225,ECO:0000303|PubMed:14702039;Dbxref=PMID:11279184,PMID:11735225,PMID:14702039 |
| Q9BXW6 | 69 | 93 | 1 | 382 | Alternative sequence | ID=VSP_045443;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9BXW6 | 69 | 93 | 1 | 950 | Chain | ID=PRO_0000100367;Note=Oxysterol-binding protein-related protein 1 |
| Q9BXW6 | 69 | 93 | 1 | 237 | Region | Note=Interaction with RAB7A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16176980;Dbxref=PMID:16176980 |
| Q9BXW6 | 69 | 93 | 47 | 76 | Repeat | Note=ANK 1 |
| Q9BXW6 | 69 | 93 | 80 | 109 | Repeat | Note=ANK 2 |
| Q9BXW6 | 559 | 603 | 1 | 950 | Chain | ID=PRO_0000100367;Note=Oxysterol-binding protein-related protein 1 |
| Q9BXW6 | 637 | 697 | 1 | 950 | Chain | ID=PRO_0000100367;Note=Oxysterol-binding protein-related protein 1 |
| Q9BXW6 | 698 | 733 | 1 | 950 | Chain | ID=PRO_0000100367;Note=Oxysterol-binding protein-related protein 1 |
| 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 |
| Q9BXW6 | 69 | 93 | 1 | 513 | Alternative sequence | ID=VSP_003779;Note=In isoform A. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11279184,ECO:0000303|PubMed:11735225,ECO:0000303|PubMed:14702039;Dbxref=PMID:11279184,PMID:11735225,PMID:14702039 |
| Q9BXW6 | 69 | 93 | 1 | 382 | Alternative sequence | ID=VSP_045443;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9BXW6 | 69 | 93 | 1 | 950 | Chain | ID=PRO_0000100367;Note=Oxysterol-binding protein-related protein 1 |
| Q9BXW6 | 69 | 93 | 1 | 237 | Region | Note=Interaction with RAB7A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16176980;Dbxref=PMID:16176980 |
| Q9BXW6 | 69 | 93 | 47 | 76 | Repeat | Note=ANK 1 |
| Q9BXW6 | 69 | 93 | 80 | 109 | Repeat | Note=ANK 2 |
| Q9BXW6 | 559 | 603 | 1 | 950 | Chain | ID=PRO_0000100367;Note=Oxysterol-binding protein-related protein 1 |
| Q9BXW6 | 637 | 697 | 1 | 950 | Chain | ID=PRO_0000100367;Note=Oxysterol-binding protein-related protein 1 |
| Q9BXW6 | 698 | 733 | 1 | 950 | Chain | ID=PRO_0000100367;Note=Oxysterol-binding protein-related protein 1 |
| 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 |
| Q9BXW6 | 69 | 93 | 1 | 513 | Alternative sequence | ID=VSP_003779;Note=In isoform A. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11279184,ECO:0000303|PubMed:11735225,ECO:0000303|PubMed:14702039;Dbxref=PMID:11279184,PMID:11735225,PMID:14702039 |
| Q9BXW6 | 69 | 93 | 1 | 382 | Alternative sequence | ID=VSP_045443;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9BXW6 | 69 | 93 | 1 | 950 | Chain | ID=PRO_0000100367;Note=Oxysterol-binding protein-related protein 1 |
| Q9BXW6 | 69 | 93 | 1 | 237 | Region | Note=Interaction with RAB7A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16176980;Dbxref=PMID:16176980 |
| Q9BXW6 | 69 | 93 | 47 | 76 | Repeat | Note=ANK 1 |
| Q9BXW6 | 69 | 93 | 80 | 109 | Repeat | Note=ANK 2 |
| Q9BXW6 | 559 | 603 | 1 | 950 | Chain | ID=PRO_0000100367;Note=Oxysterol-binding protein-related protein 1 |
| Q9BXW6 | 637 | 697 | 1 | 950 | Chain | ID=PRO_0000100367;Note=Oxysterol-binding protein-related protein 1 |
| Q9BXW6 | 698 | 733 | 1 | 950 | Chain | ID=PRO_0000100367;Note=Oxysterol-binding protein-related protein 1 |
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3'-UTR located exon skipping events that lost miRNA binding sites in OSBPL1A |
| 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 OSBPL1A |
| - 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 OSBPL1A |
| 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 OSBPL1A |
| 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 OSBPL1A |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for OSBPL1A |
| 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 OSBPL1A |
| 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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