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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 BCO2 |
 Gene summary |
| Gene information | Gene symbol | BCO2 | Gene ID | 83875 |
| Gene name | beta-carotene oxygenase 2 | |
| Synonyms | B-DIOX-II|BCDO2 | |
| Cytomap | 11q23.1 | |
| Type of gene | protein-coding | |
| Description | beta,beta-carotene 9',10'-oxygenaseb,b-carotene-9',10'-dioxygenasebeta,beta-carotene 9',10'-dioxygenase variant 1beta,beta-carotene 9',10'-dioxygenase variant 2beta,beta-carotene 9',10'-dioxygenase variant 3beta-carotene 9',10' oxygenasebeta-caroten | |
| Modification date | 20180523 | |
| UniProtAcc | Q9BYV7 | |
| Context | PubMed: BCO2 [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 |
| BCO2 | GO:0016119 | carotene metabolic process | 11278918 |
| BCO2 | GO:0016121 | carotene catabolic process | 21302131 |
| BCO2 | GO:0055114 | oxidation-reduction process | 21302131 |
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Exon skipping events across known transcript of Ensembl for BCO2 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 BCO2 |
| 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 BCO2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_64922 | 11 | 112072745:112072913:112084446:112084584:112085484:112085582 | 112084446:112084584 | ENSG00000197580.7 | ENST00000357685.5,ENST00000526088.1,ENST00000361053.4,ENST00000438022.1,ENST00000393032.2,ENST00000530677.1,ENST00000531169.1,ENST00000460924.2,ENST00000494860.1,ENST00000532593.1 |
| exon_skip_64923 | 11 | 112084564:112084584:112085484:112085582:112086942:112087053 | 112085484:112085582 | ENSG00000197580.7 | ENST00000525175.1 |
| exon_skip_64924 | 11 | 112084564:112084584:112085484:112085649:112086942:112087053 | 112085484:112085649 | ENSG00000197580.7 | ENST00000526088.1 |
| exon_skip_64925 | 11 | 112084564:112084584:112085484:112085667:112086942:112087053 | 112085484:112085667 | ENSG00000197580.7 | ENST00000357685.5,ENST00000361053.4,ENST00000438022.1,ENST00000393032.2,ENST00000531169.1,ENST00000460924.2,ENST00000532593.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for BCO2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_64922 | 11 | 112072745:112072913:112084446:112084584:112085484:112085582 | 112084446:112084584 | ENSG00000197580.7 | ENST00000357685.5,ENST00000393032.2,ENST00000460924.2,ENST00000361053.4,ENST00000494860.1,ENST00000438022.1,ENST00000526088.1,ENST00000532593.1,ENST00000531169.1,ENST00000530677.1 |
| exon_skip_64923 | 11 | 112084564:112084584:112085484:112085582:112086942:112087053 | 112085484:112085582 | ENSG00000197580.7 | ENST00000525175.1 |
| exon_skip_64924 | 11 | 112084564:112084584:112085484:112085649:112086942:112087053 | 112085484:112085649 | ENSG00000197580.7 | ENST00000526088.1 |
| exon_skip_64925 | 11 | 112084564:112084584:112085484:112085667:112086942:112087053 | 112085484:112085667 | ENSG00000197580.7 | ENST00000357685.5,ENST00000393032.2,ENST00000460924.2,ENST00000361053.4,ENST00000438022.1,ENST00000532593.1,ENST00000531169.1 |
| 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 BCO2 |
| 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 |
| ENST00000357685 | 112084446 | 112084584 | In-frame |
| ENST00000357685 | 112085484 | 112085667 | 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 |
| ENST00000357685 | 112084446 | 112084584 | In-frame |
| ENST00000357685 | 112085484 | 112085667 | In-frame |
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Infer the effects of exon skipping event on protein functional features for BCO2 |
| 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 |
| ENST00000357685 | 2947 | 579 | 112084446 | 112084584 | 1330 | 1467 | 398 | 444 |
| ENST00000357685 | 2947 | 579 | 112085484 | 112085667 | 1468 | 1650 | 444 | 505 |
| 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 |
| ENST00000357685 | 2947 | 579 | 112084446 | 112084584 | 1330 | 1467 | 398 | 444 |
| ENST00000357685 | 2947 | 579 | 112085484 | 112085667 | 1468 | 1650 | 444 | 505 |
| 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 |
| Q9BYV7 | 398 | 444 | 1 | 579 | Chain | ID=PRO_0000143937;Note=Beta%2Cbeta-carotene 9'%2C10'-oxygenase |
| Q9BYV7 | 398 | 444 | 429 | 429 | Sequence conflict | Note=P->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9BYV7 | 444 | 505 | 501 | 506 | Alternative sequence | ID=VSP_008600;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9BYV7 | 444 | 505 | 1 | 579 | Chain | ID=PRO_0000143937;Note=Beta%2Cbeta-carotene 9'%2C10'-oxygenase |
| Q9BYV7 | 444 | 505 | 446 | 446 | Sequence conflict | Note=W->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q9BYV7 | 398 | 444 | 1 | 579 | Chain | ID=PRO_0000143937;Note=Beta%2Cbeta-carotene 9'%2C10'-oxygenase |
| Q9BYV7 | 398 | 444 | 429 | 429 | Sequence conflict | Note=P->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9BYV7 | 444 | 505 | 501 | 506 | Alternative sequence | ID=VSP_008600;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9BYV7 | 444 | 505 | 1 | 579 | Chain | ID=PRO_0000143937;Note=Beta%2Cbeta-carotene 9'%2C10'-oxygenase |
| Q9BYV7 | 444 | 505 | 446 | 446 | Sequence conflict | Note=W->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for BCO2 |
| - 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. |
| - 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 |
| BLCA | TCGA-4Z-AA7Y-01 | exon_skip_64922 | 112084447 | 112084584 | 112084477 | 112084477 | Nonsense_Mutation | C | T | p.R409* |
| UCEC | TCGA-B5-A11E-01 | exon_skip_64925 | 112085485 | 112085667 | 112085668 | 112085668 | Splice_Site | G | T | e10+1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| LOUNH91_LUNG | 112084447 | 112084584 | 112084478 | 112084478 | Missense_Mutation | G | A | p.R409Q |
| EN_ENDOMETRIUM | 112084447 | 112084584 | 112084546 | 112084546 | Missense_Mutation | T | C | p.Y432H |
| SNU324_PANCREAS | 112085485 | 112085667 | 112085606 | 112085606 | Missense_Mutation | G | A | p.G485D |
| SNU324_PANCREAS | 112085485 | 112085649 | 112085606 | 112085606 | Missense_Mutation | G | A | p.G485D |
| 22RV1_PROSTATE | 112085485 | 112085667 | 112085648 | 112085648 | Missense_Mutation | T | C | p.V499A |
| 22RV1_PROSTATE | 112085485 | 112085649 | 112085648 | 112085648 | Missense_Mutation | T | C | p.V499A |
| DERL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 112084447 | 112084584 | 112084447 | 112084447 | Splice_Site | G | T | p.V399F |
| COLO668_LUNG | 112084447 | 112084584 | 112084584 | 112084584 | Splice_Site | G | A | p.T444T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BCO2 |
| 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 BCO2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BCO2 |
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RelatedDrugs for BCO2 |
| 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 BCO2 |
| 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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