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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 CYP2B6 |
 Gene summary |
| Gene information | Gene symbol | CYP2B6 | Gene ID | 1555 |
| Gene name | cytochrome P450 family 2 subfamily B member 6 | |
| Synonyms | CPB6|CYP2B|CYP2B7|CYP2B7P|CYPIIB6|EFVM|IIB1|P450 | |
| Cytomap | 19q13.2 | |
| Type of gene | protein-coding | |
| Description | cytochrome P450 2B61,4-cineole 2-exo-monooxygenasecytochrome P450 IIB1cytochrome P450, family 2, subfamily B, polypeptide 6cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6 | |
| Modification date | 20180523 | |
| UniProtAcc | P20813 | |
| Context | PubMed: CYP2B6 [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 |
| CYP2B6 | GO:0006805 | xenobiotic metabolic process | 20061448 |
| CYP2B6 | GO:0017144 | drug metabolic process | 19651758 |
| CYP2B6 | GO:0042180 | cellular ketone metabolic process | 19651758 |
| CYP2B6 | GO:0042738 | exogenous drug catabolic process | 19029318 |
| CYP2B6 | GO:0055114 | oxidation-reduction process | 19651758 |
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Exon skipping events across known transcript of Ensembl for CYP2B6 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 CYP2B6 |
| 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 CYP2B6 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_307387 | 19 | 41497308:41497381:41509905:41510068:41510201:41510351 | 41509905:41510068 | ENSG00000197408.4 | ENST00000598834.1 |
| exon_skip_307395 | 19 | 41510283:41510351:41512809:41512970:41513383:41513436 | 41512809:41512970 | ENSG00000197408.4 | ENST00000598834.1 |
| exon_skip_307396 | 19 | 41510283:41510351:41512809:41512970:41515123:41515173 | 41512809:41512970 | ENSG00000197408.4 | ENST00000324071.4 |
| exon_skip_307405 | 19 | 41518202:41518390:41518578:41518720:41522550:41523278 | 41518578:41518720 | ENSG00000197408.4 | ENST00000593831.1,ENST00000324071.4,ENST00000330446.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CYP2B6 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_307387 | 19 | 41497308:41497381:41509905:41510068:41510201:41510351 | 41509905:41510068 | ENSG00000197408.4 | ENST00000598834.1 |
| exon_skip_307395 | 19 | 41510283:41510351:41512809:41512970:41513383:41513436 | 41512809:41512970 | ENSG00000197408.4 | ENST00000598834.1 |
| exon_skip_307396 | 19 | 41510283:41510351:41512809:41512970:41515123:41515173 | 41512809:41512970 | ENSG00000197408.4 | ENST00000324071.4 |
| exon_skip_307405 | 19 | 41518202:41518390:41518578:41518720:41522550:41523278 | 41518578:41518720 | ENSG00000197408.4 | ENST00000324071.4,ENST00000593831.1,ENST00000330446.5 |
| 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 CYP2B6 |
| 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 |
| ENST00000324071 | 41512809 | 41512970 | Frame-shift |
| ENST00000324071 | 41518578 | 41518720 | Frame-shift |
| 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 |
| ENST00000324071 | 41512809 | 41512970 | Frame-shift |
| ENST00000324071 | 41518578 | 41518720 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for CYP2B6 |
| 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 |
| 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 |
| 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 CYP2B6 |
| - 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 |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_307387 | 41509906 | 41510068 | 41510031 | 41510031 | Frame_Shift_Del | A | - | p.G99fs |
| THYM | TCGA-ZB-A96L-01 | exon_skip_307387 | 41509906 | 41510068 | 41510064 | 41510064 | Frame_Shift_Del | A | - | p.G110fs |
| THYM | TCGA-ZB-A96L-01 | exon_skip_307387 | 41509906 | 41510068 | 41510064 | 41510064 | Frame_Shift_Del | A | - | p.Y111fs |
| HNSC | TCGA-CV-A45Z-01 | exon_skip_307387 | 41509906 | 41510068 | 41509945 | 41509945 | Nonsense_Mutation | G | T | p.G71* |
| - 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 |
| SNGM_ENDOMETRIUM | 41509906 | 41510068 | 41510031 | 41510031 | Frame_Shift_Del | A | - | p.G99fs |
| NB13_AUTONOMIC_GANGLIA | 41509906 | 41510068 | 41509984 | 41509984 | Missense_Mutation | A | T | p.I84L |
| RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 41509906 | 41510068 | 41509988 | 41509988 | Missense_Mutation | G | A | p.R85Q |
| TE15_OESOPHAGUS | 41509906 | 41510068 | 41510011 | 41510011 | Missense_Mutation | G | A | p.E93K |
| NCIH524_LUNG | 41512810 | 41512970 | 41512867 | 41512867 | Missense_Mutation | C | A | p.S181Y |
| COLO792_SKIN | 41512810 | 41512970 | 41512945 | 41512945 | Missense_Mutation | C | T | p.S207L |
| MDAMB415_BREAST | 41518579 | 41518720 | 41518650 | 41518650 | Missense_Mutation | C | G | p.F408L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CYP2B6 |
| 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 CYP2B6 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CYP2B6 |
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RelatedDrugs for CYP2B6 |
| 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 |
| P20813 | DB04794 | Bifonazole | Cytochrome P450 2B6 | small molecule | approved|investigational |
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RelatedDiseases for CYP2B6 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CYP2B6 | C0001973 | Alcoholic Intoxication, Chronic | 2 | PSYGENET |
| CYP2B6 | C0206726 | gliosarcoma | 2 | CTD_human |
| CYP2B6 | C0022661 | Kidney Failure, Chronic | 1 | CTD_human |
| CYP2B6 | C0033975 | Psychotic Disorders | 1 | PSYGENET |
| CYP2B6 | C0036349 | Paranoid Schizophrenia | 1 | PSYGENET |
| CYP2B6 | C0349204 | Nonorganic psychosis | 1 | PSYGENET |
| CYP2B6 | C1861063 | TOBACCO ADDICTION, SUSCEPTIBILITY TO (finding) | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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