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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 OSBP2 |
 Gene summary |
| Gene information | Gene symbol | OSBP2 | Gene ID | 23762 |
| Gene name | oxysterol binding protein 2 | |
| Synonyms | HLM|ORP-4|ORP4|OSBPL1|OSBPL4 | |
| Cytomap | 22q12.2 | |
| Type of gene | protein-coding | |
| Description | oxysterol-binding protein 2OSBP-related protein 4oxysterol binding protein-like 1oxysterol-binding protein-related protein 4 | |
| Modification date | 20180523 | |
| UniProtAcc | Q969R2 | |
| Context | PubMed: OSBP2 [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 |
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Exon skipping events across known transcript of Ensembl for OSBP2 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 OSBP2 |
| 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 OSBP2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_364451 | 22 | 31090194:31090331:31137147:31137356:31266415:31266600 | 31137147:31137356 | ENSG00000184792.11 | ENST00000407373.1,ENST00000403222.3 |
| exon_skip_364452 | 22 | 31091362:31091540:31137147:31137356:31266415:31266600 | 31137147:31137356 | ENSG00000184792.11 | ENST00000382310.3,ENST00000332585.6,ENST00000446658.2 |
| exon_skip_364456 | 22 | 31285166:31285221:31285476:31285623:31286714:31286952 | 31285476:31285623 | ENSG00000184792.11 | ENST00000453621.1,ENST00000535268.1,ENST00000452656.1,ENST00000332585.6,ENST00000407373.1,ENST00000401475.1,ENST00000431368.1,ENST00000446658.2,ENST00000437268.2,ENST00000403222.3 |
| exon_skip_364457 | 22 | 31286935:31286960:31289108:31289229:31289449:31289553 | 31289108:31289229 | ENSG00000184792.11 | ENST00000535268.1,ENST00000452656.1,ENST00000382310.3,ENST00000332585.6,ENST00000407373.1,ENST00000401475.1,ENST00000431368.1,ENST00000446658.2,ENST00000437268.2,ENST00000403222.3 |
| exon_skip_364458 | 22 | 31289628:31289720:31289803:31289988:31301823:31302056 | 31289803:31289988 | ENSG00000184792.11 | ENST00000535268.1,ENST00000382310.3,ENST00000332585.6,ENST00000407373.1,ENST00000401475.1,ENST00000431368.1,ENST00000446658.2,ENST00000437268.2,ENST00000403222.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for OSBP2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_364451 | 22 | 31090194:31090331:31137147:31137356:31266415:31266600 | 31137147:31137356 | ENSG00000184792.11 | ENST00000403222.3,ENST00000407373.1 |
| exon_skip_364452 | 22 | 31091362:31091540:31137147:31137356:31266415:31266600 | 31137147:31137356 | ENSG00000184792.11 | ENST00000332585.6,ENST00000382310.3,ENST00000446658.2 |
| exon_skip_364453 | 22 | 31160239:31160379:31166569:31166668:31266415:31266669 | 31166569:31166668 | ENSG00000184792.11 | ENST00000445781.1 |
| exon_skip_364454 | 22 | 31166569:31166668:31169109:31169232:31266415:31266669 | 31169109:31169232 | ENSG00000184792.11 | ENST00000477355.1 |
| exon_skip_364456 | 22 | 31285166:31285221:31285476:31285623:31286714:31286952 | 31285476:31285623 | ENSG00000184792.11 | ENST00000403222.3,ENST00000407373.1,ENST00000332585.6,ENST00000446658.2,ENST00000401475.1,ENST00000437268.2,ENST00000453621.1,ENST00000431368.1,ENST00000535268.1,ENST00000452656.1 |
| exon_skip_364457 | 22 | 31286935:31286960:31289108:31289229:31289449:31289553 | 31289108:31289229 | ENSG00000184792.11 | ENST00000403222.3,ENST00000407373.1,ENST00000332585.6,ENST00000382310.3,ENST00000446658.2,ENST00000401475.1,ENST00000437268.2,ENST00000431368.1,ENST00000535268.1,ENST00000452656.1 |
| exon_skip_364458 | 22 | 31289628:31289720:31289803:31289988:31301823:31302056 | 31289803:31289988 | ENSG00000184792.11 | ENST00000403222.3,ENST00000407373.1,ENST00000332585.6,ENST00000382310.3,ENST00000446658.2,ENST00000401475.1,ENST00000437268.2,ENST00000431368.1,ENST00000535268.1 |
| 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 OSBP2 |
| 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 |
| ENST00000332585 | 31137147 | 31137356 | Frame-shift |
| ENST00000332585 | 31289108 | 31289229 | Frame-shift |
| ENST00000332585 | 31289803 | 31289988 | Frame-shift |
| ENST00000332585 | 31285476 | 31285623 | 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 |
| ENST00000332585 | 31137147 | 31137356 | Frame-shift |
| ENST00000332585 | 31289108 | 31289229 | Frame-shift |
| ENST00000332585 | 31289803 | 31289988 | Frame-shift |
| ENST00000332585 | 31285476 | 31285623 | In-frame |
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Infer the effects of exon skipping event on protein functional features for OSBP2 |
| 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 |
| ENST00000332585 | 4357 | 916 | 31285476 | 31285623 | 1581 | 1727 | 492 | 541 |
| 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 |
| ENST00000332585 | 4357 | 916 | 31285476 | 31285623 | 1581 | 1727 | 492 | 541 |
| 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 |
| 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 |
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SNVs in the skipped exons for OSBP2 |
| - 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. |
OSBP2_KIRC_exon_skip_364457_psi_boxplot.png |
OSBP2_PAAD_exon_skip_364457_psi_boxplot.png |
OSBP2_STAD_exon_skip_364457_psi_boxplot.png |
| - 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-A39Y-01 | exon_skip_364456 | 31285477 | 31285623 | 31285538 | 31285538 | Frame_Shift_Del | T | - | p.I513fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_364456 | 31285477 | 31285623 | 31285540 | 31285540 | Frame_Shift_Del | C | - | p.P514fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_364456 | 31285477 | 31285623 | 31285598 | 31285598 | Frame_Shift_Del | G | - | p.R533fs |
| STAD | TCGA-BR-A4QL-01 | exon_skip_364457 | 31289109 | 31289229 | 31289120 | 31289120 | Frame_Shift_Del | C | - | p.H627fs |
| KIRC | TCGA-A3-3319-01 | exon_skip_364457 | 31289109 | 31289229 | 31289119 | 31289120 | Frame_Shift_Ins | - | C | p.P627fs |
| KIRC | TCGA-A3-3378-01 | exon_skip_364457 | 31289109 | 31289229 | 31289119 | 31289120 | Frame_Shift_Ins | - | C | p.P627fs |
| KIRC | TCGA-A3-3382-01 | exon_skip_364457 | 31289109 | 31289229 | 31289119 | 31289120 | Frame_Shift_Ins | - | C | p.P627fs |
| KIRC | TCGA-AK-3444-01 | exon_skip_364457 | 31289109 | 31289229 | 31289119 | 31289120 | Frame_Shift_Ins | - | C | p.P627fs |
| LUAD | TCGA-44-2665-01 | exon_skip_364457 | 31289109 | 31289229 | 31289119 | 31289120 | Frame_Shift_Ins | - | C | p.P627fs |
| STAD | TCGA-BR-4368-01 | exon_skip_364457 | 31289109 | 31289229 | 31289119 | 31289120 | Frame_Shift_Ins | - | C | p.H627fs |
| STAD | TCGA-HU-A4G8-01 | exon_skip_364457 | 31289109 | 31289229 | 31289119 | 31289120 | Frame_Shift_Ins | - | C | p.H627fs |
| STAD | TCGA-BR-4368-01 | exon_skip_364457 | 31289109 | 31289229 | 31289120 | 31289121 | Frame_Shift_Ins | - | C | p.H627fs |
| STAD | TCGA-BR-6566-01 | exon_skip_364457 | 31289109 | 31289229 | 31289120 | 31289121 | Frame_Shift_Ins | - | C | p.H627fs |
| STAD | TCGA-HU-A4G8-01 | exon_skip_364457 | 31289109 | 31289229 | 31289120 | 31289121 | Frame_Shift_Ins | - | C | p.H627fs |
| SKCM | TCGA-EE-A17X-06 | exon_skip_364451 exon_skip_364452 | 31137148 | 31137356 | 31137152 | 31137152 | Nonsense_Mutation | C | T | p.Q217* |
| SKCM | TCGA-EE-A17X-06 | exon_skip_364451 exon_skip_364452 | 31137148 | 31137356 | 31137152 | 31137152 | Nonsense_Mutation | C | T | p.Q217X |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_364456 | 31285477 | 31285623 | 31285528 | 31285528 | Nonsense_Mutation | C | T | p.R510* |
| PAAD | TCGA-IB-7651-01 | exon_skip_364457 | 31289109 | 31289229 | 31289171 | 31289171 | Nonsense_Mutation | G | A | p.W644* |
| PAAD | TCGA-IB-7651-01 | exon_skip_364457 | 31289109 | 31289229 | 31289171 | 31289171 | Nonsense_Mutation | G | A | p.W644X |
| STAD | TCGA-HU-A4GX-01 | exon_skip_364456 | 31285477 | 31285623 | 31285625 | 31285625 | Splice_Site | T | C | . |
| STAD | TCGA-HU-A4GX-01 | exon_skip_364456 | 31285477 | 31285623 | 31285625 | 31285625 | Splice_Site | T | C | p.P541_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-A3-3319-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_364457 | |
| Skipped exon start: 31289109 | |
| Skipped exon end: 31289229 | |
| Mutation start: 31289119 | |
| Mutation end: 31289120 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.P627fs | |
exon_skip_347690_KIRC_TCGA-A3-3319-01.png | |
exon_skip_364457_KIRC_TCGA-A3-3319-01.png | |
exon_skip_374468_KIRC_TCGA-A3-3319-01.png | |
exon_skip_374469_KIRC_TCGA-A3-3319-01.png | |
| - 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 |
| SW48_LARGE_INTESTINE | 31289109 | 31289229 | 31289120 | 31289120 | Frame_Shift_Del | C | - | p.H627fs |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 31289109 | 31289229 | 31289120 | 31289120 | Frame_Shift_Del | C | - | p.H627fs |
| SW480_LARGE_INTESTINE | 31289109 | 31289229 | 31289185 | 31289185 | Frame_Shift_Del | T | - | p.I649fs |
| HCT15_LARGE_INTESTINE | 31137148 | 31137356 | 31137338 | 31137338 | Missense_Mutation | G | A | p.V279M |
| U118MG_CENTRAL_NERVOUS_SYSTEM | 31285477 | 31285623 | 31285481 | 31285481 | Missense_Mutation | T | C | p.L494P |
| FUOV1_OVARY | 31285477 | 31285623 | 31285505 | 31285505 | Missense_Mutation | A | G | p.K502R |
| MFE319_ENDOMETRIUM | 31285477 | 31285623 | 31285506 | 31285506 | Missense_Mutation | G | T | p.K502N |
| CW2_LARGE_INTESTINE | 31285477 | 31285623 | 31285613 | 31285613 | Missense_Mutation | T | C | p.I538T |
| AGS_STOMACH | 31289109 | 31289229 | 31289116 | 31289116 | Missense_Mutation | A | G | p.H626R |
| ONS76_CENTRAL_NERVOUS_SYSTEM | 31289109 | 31289229 | 31289164 | 31289164 | Missense_Mutation | G | A | p.S642N |
| LNCAPCLONEFGC_PROSTATE | 31289109 | 31289229 | 31289214 | 31289214 | Missense_Mutation | T | A | p.S659T |
| COLO680N_OESOPHAGUS | 31289804 | 31289988 | 31289846 | 31289846 | Missense_Mutation | G | A | p.V745M |
| 786O_KIDNEY | 31289804 | 31289988 | 31289952 | 31289952 | Missense_Mutation | T | C | p.L780P |
| EN_ENDOMETRIUM | 31289804 | 31289988 | 31289952 | 31289952 | Missense_Mutation | T | C | p.L780P |
| CME1_SOFT_TISSUE | 31285477 | 31285623 | 31285619 | 31285622 | Splice_Site | TGCC | - | p.MP540fs |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for OSBP2 |
| 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 OSBP2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for OSBP2 |
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RelatedDrugs for OSBP2 |
| 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 OSBP2 |
| 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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