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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 BOK |
 Gene summary |
| Gene information | Gene symbol | BOK | Gene ID | 666 |
| Gene name | BOK, BCL2 family apoptosis regulator | |
| Synonyms | BCL2L9|BOKL | |
| Cytomap | 2q37.3 | |
| Type of gene | protein-coding | |
| Description | bcl-2-related ovarian killer proteinBCL2 related ovarian killerbcl-2-like protein 9bcl2-L-9hBOK | |
| Modification date | 20180523 | |
| UniProtAcc | Q9UMX3 | |
| Context | PubMed: BOK [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 |
| BOK | GO:0001836 | release of cytochrome c from mitochondria | 27505430 |
| BOK | GO:0006915 | apoptotic process | 15102863 |
| BOK | GO:0043065 | positive regulation of apoptotic process | 16302269|27505430 |
| BOK | GO:1901382 | regulation of chorionic trophoblast cell proliferation | 19942931 |
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Exon skipping events across known transcript of Ensembl for BOK 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 BOK |
| 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 BOK |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_336065 | 2 | 242498968:242499118:242501762:242501891:242509539:242509703 | 242501762:242501891 | ENSG00000176720.3 | ENST00000318407.3 |
| exon_skip_336068 | 2 | 242501762:242501891:242509539:242509703:242511711:242512000 | 242509539:242509703 | ENSG00000176720.3 | ENST00000318407.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for BOK |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_336065 | 2 | 242498968:242499118:242501762:242501891:242509539:242509703 | 242501762:242501891 | ENSG00000176720.3 | ENST00000318407.3 |
| exon_skip_336068 | 2 | 242501762:242501891:242509539:242509703:242511711:242512000 | 242509539:242509703 | ENSG00000176720.3 | ENST00000318407.3 |
| 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 BOK |
| 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 |
| ENST00000318407 | 242509539 | 242509703 | Frame-shift |
| ENST00000318407 | 242501762 | 242501891 | 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 |
| ENST00000318407 | 242509539 | 242509703 | Frame-shift |
| ENST00000318407 | 242501762 | 242501891 | In-frame |
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Infer the effects of exon skipping event on protein functional features for BOK |
| 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 |
| ENST00000318407 | 2667 | 212 | 242501762 | 242501891 | 523 | 651 | 73 | 116 |
| 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 |
| ENST00000318407 | 2667 | 212 | 242501762 | 242501891 | 523 | 651 | 73 | 116 |
| 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 |
| Q9UMX3 | 73 | 116 | 1 | 78 | Alternative sequence | ID=VSP_058599;Note=In isoform 2. Missing |
| Q9UMX3 | 73 | 116 | 1 | 212 | Chain | ID=PRO_0000143086;Note=Bcl-2-related ovarian killer protein |
| Q9UMX3 | 73 | 116 | 61 | 80 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CKV |
| Q9UMX3 | 73 | 116 | 88 | 91 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CKV |
| Q9UMX3 | 73 | 116 | 100 | 115 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CKV |
| Q9UMX3 | 73 | 116 | 66 | 82 | Motif | Note=BH3 |
| Q9UMX3 | 73 | 116 | 112 | 131 | Motif | Note=BH1 |
| Q9UMX3 | 73 | 116 | 71 | 73 | Mutagenesis | Note=Significantly accumulates in the nucleus. Increases apoptotic activity. Does not interact with XPO1. LRL->AAA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16302269;Dbxref=PMID:16302269 |
| Q9UMX3 | 73 | 116 | 70 | 78 | Region | Note=Nuclear export signal;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16302269;Dbxref=PMID:16302269 |
| Q9UMX3 | 73 | 116 | 85 | 87 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CKV |
| 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 |
| Q9UMX3 | 73 | 116 | 1 | 78 | Alternative sequence | ID=VSP_058599;Note=In isoform 2. Missing |
| Q9UMX3 | 73 | 116 | 1 | 212 | Chain | ID=PRO_0000143086;Note=Bcl-2-related ovarian killer protein |
| Q9UMX3 | 73 | 116 | 61 | 80 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CKV |
| Q9UMX3 | 73 | 116 | 88 | 91 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CKV |
| Q9UMX3 | 73 | 116 | 100 | 115 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CKV |
| Q9UMX3 | 73 | 116 | 66 | 82 | Motif | Note=BH3 |
| Q9UMX3 | 73 | 116 | 112 | 131 | Motif | Note=BH1 |
| Q9UMX3 | 73 | 116 | 71 | 73 | Mutagenesis | Note=Significantly accumulates in the nucleus. Increases apoptotic activity. Does not interact with XPO1. LRL->AAA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16302269;Dbxref=PMID:16302269 |
| Q9UMX3 | 73 | 116 | 70 | 78 | Region | Note=Nuclear export signal;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16302269;Dbxref=PMID:16302269 |
| Q9UMX3 | 73 | 116 | 85 | 87 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CKV |
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SNVs in the skipped exons for BOK |
| - 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 |
| GBM | TCGA-32-4208-01 | exon_skip_336068 | 242509540 | 242509703 | 242509549 | 242509549 | Frame_Shift_Del | G | - | p.W120fs |
| - 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 |
| HS895T_FIBROBLAST | 242509540 | 242509703 | 242509554 | 242509554 | Frame_Shift_Del | A | - | p.K122fs |
| PSN1_PANCREAS | 242509540 | 242509703 | 242509672 | 242509672 | Frame_Shift_Del | T | - | p.L161fs |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 242501763 | 242501891 | 242501799 | 242501799 | Missense_Mutation | G | A | p.R86H |
| MERO41_LUNG | 242509540 | 242509703 | 242509546 | 242509546 | Missense_Mutation | C | T | p.T119M |
| D425_CENTRAL_NERVOUS_SYSTEM | 242509540 | 242509703 | 242509582 | 242509582 | Missense_Mutation | C | A | p.A131E |
| D458_CENTRAL_NERVOUS_SYSTEM | 242509540 | 242509703 | 242509582 | 242509582 | Missense_Mutation | C | A | p.A131E |
| SKN3_UPPER_AERODIGESTIVE_TRACT | 242509540 | 242509703 | 242509582 | 242509582 | Missense_Mutation | C | G | p.A131G |
| SNU8_OVARY | 242509540 | 242509703 | 242509582 | 242509582 | Missense_Mutation | C | G | p.A131G |
| SF268_CENTRAL_NERVOUS_SYSTEM | 242509540 | 242509703 | 242509600 | 242509600 | Missense_Mutation | G | A | p.C137Y |
| HEC251_ENDOMETRIUM | 242509540 | 242509703 | 242509615 | 242509615 | Missense_Mutation | A | G | p.Q142R |
| SNU407_LARGE_INTESTINE | 242509540 | 242509703 | 242509656 | 242509656 | Missense_Mutation | T | C | p.F156L |
| KMS12BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 242509540 | 242509703 | 242509698 | 242509698 | Missense_Mutation | G | A | p.G170R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BOK |
| 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 BOK |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BOK |
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RelatedDrugs for BOK |
| 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 BOK |
| 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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