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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 CBFB |
 Gene summary |
| Gene information | Gene symbol | CBFB | Gene ID | 865 |
| Gene name | core-binding factor subunit beta | |
| Synonyms | PEBP2B | |
| Cytomap | 16q22.1 | |
| Type of gene | protein-coding | |
| Description | core-binding factor subunit betaCBF-betaPEA2-betaPEBP2-betaSL3-3 enhancer factor 1 beta subunitSL3-3 enhancer factor 1 subunit betaSL3/AKV core-binding factor beta subunitcore-binding factor beta subunitpolyomavirus enhancer binding protein 2, bet | |
| Modification date | 20180523 | |
| UniProtAcc | Q13951 | |
| Context | PubMed: CBFB [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 CBFB 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 CBFB |
| 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 CBFB |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_137476 | 16 | 67063629:67063716:67070541:67070658:67100584:67100663 | 67070541:67070658 | ENSG00000067955.9 | ENST00000290858.6,ENST00000412916.2,ENST00000561924.2 |
| exon_skip_137487 | 16 | 67063854:67064080:67070541:67070658:67100584:67100699 | 67070541:67070658 | ENSG00000067955.9 | ENST00000563939.2 |
| exon_skip_137490 | 16 | 67070541:67070658:67100584:67100701:67116115:67116200 | 67100584:67100701 | ENSG00000067955.9 | ENST00000290858.6,ENST00000563939.2,ENST00000412916.2,ENST00000561924.2 |
| exon_skip_137498 | 16 | 67100584:67100701:67116115:67116211:67132612:67132714 | 67116115:67116211 | ENSG00000067955.9 | ENST00000412916.2 |
| exon_skip_137500 | 16 | 67100584:67100701:67116115:67116242:67132612:67132714 | 67116115:67116242 | ENSG00000067955.9 | ENST00000290858.6,ENST00000561924.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CBFB |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_137476 | 16 | 67063629:67063716:67070541:67070658:67100584:67100663 | 67070541:67070658 | ENSG00000067955.9 | ENST00000561924.2,ENST00000290858.6,ENST00000412916.2 |
| exon_skip_137487 | 16 | 67063854:67064080:67070541:67070658:67100584:67100699 | 67070541:67070658 | ENSG00000067955.9 | ENST00000563939.2 |
| exon_skip_137490 | 16 | 67070541:67070658:67100584:67100701:67116115:67116200 | 67100584:67100701 | ENSG00000067955.9 | ENST00000561924.2,ENST00000290858.6,ENST00000412916.2,ENST00000563939.2 |
| exon_skip_137498 | 16 | 67100584:67100701:67116115:67116211:67132612:67132714 | 67116115:67116211 | ENSG00000067955.9 | ENST00000412916.2 |
| exon_skip_137500 | 16 | 67100584:67100701:67116115:67116242:67132612:67132714 | 67116115:67116242 | ENSG00000067955.9 | ENST00000561924.2,ENST00000290858.6 |
| 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 CBFB |
| 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 |
| ENST00000290858 | 67116115 | 67116242 | Frame-shift |
| ENST00000290858 | 67070541 | 67070658 | In-frame |
| ENST00000290858 | 67100584 | 67100701 | 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 |
| ENST00000290858 | 67116115 | 67116242 | Frame-shift |
| ENST00000290858 | 67070541 | 67070658 | In-frame |
| ENST00000290858 | 67100584 | 67100701 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CBFB |
| 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 |
| ENST00000290858 | 3153 | 182 | 67070541 | 67070658 | 427 | 543 | 55 | 94 |
| ENST00000290858 | 3153 | 182 | 67100584 | 67100701 | 544 | 660 | 94 | 133 |
| 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 |
| ENST00000290858 | 3153 | 182 | 67070541 | 67070658 | 427 | 543 | 55 | 94 |
| ENST00000290858 | 3153 | 182 | 67100584 | 67100701 | 544 | 660 | 94 | 133 |
| 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 |
| Q13951 | 55 | 94 | 52 | 57 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1E50 |
| Q13951 | 55 | 94 | 65 | 67 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1E50 |
| Q13951 | 55 | 94 | 86 | 91 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1E50 |
| Q13951 | 55 | 94 | 94 | 103 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1E50 |
| Q13951 | 55 | 94 | 1 | 182 | Chain | ID=PRO_0000058301;Note=Core-binding factor subunit beta |
| Q13951 | 55 | 94 | 71 | 73 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N9F |
| Q13951 | 55 | 94 | 58 | 61 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1E50 |
| Q13951 | 55 | 94 | 83 | 85 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1E50 |
| Q13951 | 94 | 133 | 94 | 103 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1E50 |
| Q13951 | 94 | 133 | 106 | 115 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1E50 |
| Q13951 | 94 | 133 | 119 | 127 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1E50 |
| Q13951 | 94 | 133 | 1 | 182 | Chain | ID=PRO_0000058301;Note=Core-binding factor subunit beta |
| Q13951 | 94 | 133 | 129 | 134 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1E50 |
| Q13951 | 94 | 133 | 100 | 100 | Natural variant | ID=VAR_036226;Note=In a breast cancer sample%3B somatic mutation. P->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 |
| Q13951 | 94 | 133 | 116 | 118 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1E50 |
| 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 |
| Q13951 | 55 | 94 | 52 | 57 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1E50 |
| Q13951 | 55 | 94 | 65 | 67 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1E50 |
| Q13951 | 55 | 94 | 86 | 91 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1E50 |
| Q13951 | 55 | 94 | 94 | 103 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1E50 |
| Q13951 | 55 | 94 | 1 | 182 | Chain | ID=PRO_0000058301;Note=Core-binding factor subunit beta |
| Q13951 | 55 | 94 | 71 | 73 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N9F |
| Q13951 | 55 | 94 | 58 | 61 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1E50 |
| Q13951 | 55 | 94 | 83 | 85 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1E50 |
| Q13951 | 94 | 133 | 94 | 103 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1E50 |
| Q13951 | 94 | 133 | 106 | 115 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1E50 |
| Q13951 | 94 | 133 | 119 | 127 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1E50 |
| Q13951 | 94 | 133 | 1 | 182 | Chain | ID=PRO_0000058301;Note=Core-binding factor subunit beta |
| Q13951 | 94 | 133 | 129 | 134 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1E50 |
| Q13951 | 94 | 133 | 100 | 100 | Natural variant | ID=VAR_036226;Note=In a breast cancer sample%3B somatic mutation. P->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 |
| Q13951 | 94 | 133 | 116 | 118 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1E50 |
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SNVs in the skipped exons for CBFB |
| - 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. |
CBFB_BRCA_exon_skip_137490_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 |
| STAD | TCGA-CG-5723-01 | exon_skip_137487 exon_skip_137476 | 67070542 | 67070658 | 67070569 | 67070570 | Frame_Shift_Del | TC | - | p.64_65del |
| STAD | TCGA-CG-5723-01 | exon_skip_137487 exon_skip_137476 | 67070542 | 67070658 | 67070569 | 67070570 | Frame_Shift_Del | TC | - | p.L64fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_137487 exon_skip_137476 | 67070542 | 67070658 | 67070578 | 67070578 | Frame_Shift_Del | T | - | p.F69fs |
| BRCA | TCGA-E2-A153-01 | exon_skip_137487 exon_skip_137476 | 67070542 | 67070658 | 67070600 | 67070601 | Frame_Shift_Del | GA | - | p.E76fs |
| BRCA | TCGA-AQ-A1H3-01 | exon_skip_137487 exon_skip_137476 | 67070542 | 67070658 | 67070640 | 67070643 | Frame_Shift_Del | AGAA | - | p.R90fs |
| BRCA | TCGA-AR-A24P-01 | exon_skip_137487 exon_skip_137476 | 67070542 | 67070658 | 67070577 | 67070578 | Frame_Shift_Ins | - | T | p.P69fs |
| BRCA | TCGA-A8-A09W-01 | exon_skip_137487 exon_skip_137476 | 67070542 | 67070658 | 67070595 | 67070595 | Nonsense_Mutation | G | A | p.W73* |
| LUSC | TCGA-34-2600-01 | exon_skip_137498 | 67116116 | 67116211 | 67116119 | 67116119 | Nonsense_Mutation | G | T | p.E135* |
| LUSC | TCGA-34-2600-01 | exon_skip_137500 | 67116116 | 67116242 | 67116119 | 67116119 | Nonsense_Mutation | G | T | p.E135* |
| THYM | TCGA-XU-A931-01 | exon_skip_137498 | 67116116 | 67116211 | 67116170 | 67116170 | Nonsense_Mutation | G | T | p.E152X |
| THYM | TCGA-XU-A931-01 | exon_skip_137500 | 67116116 | 67116242 | 67116170 | 67116170 | Nonsense_Mutation | G | T | p.E152X |
| STAD | TCGA-EQ-A4SO-01 | exon_skip_137490 | 67100585 | 67100701 | 67100583 | 67100583 | Splice_Site | A | C | . |
| STAD | TCGA-EQ-A4SO-01 | exon_skip_137490 | 67100585 | 67100701 | 67100583 | 67100583 | Splice_Site | A | C | p.V95_splice |
| BRCA | TCGA-A8-A094-01 | exon_skip_137490 | 67100585 | 67100701 | 67100703 | 67100703 | Splice_Site | T | C | e4+2 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-A8-A094-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_137490 | |
| Skipped exon start: 67100585 | |
| Skipped exon end: 67100701 | |
| Mutation start: 67100703 | |
| Mutation end: 67100703 | |
| Mutation type: Splice_Site | |
| Reference seq: T | |
| Mutation seq: C | |
| AAchange: e4+2 | |
exon_skip_137490_BRCA_TCGA-A8-A094-01.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 |
| NCIH596_LUNG | 67070542 | 67070658 | 67070584 | 67070584 | Frame_Shift_Del | C | - | p.P70fs |
| 22RV1_PROSTATE | 67070542 | 67070658 | 67070577 | 67070578 | Frame_Shift_Ins | - | T | p.F68fs |
| JHC7_BONE | 67070542 | 67070658 | 67070637 | 67070638 | Frame_Shift_Ins | - | T | p.L88fs |
| GAK_SKIN | 67100585 | 67100701 | 67100603 | 67100603 | Missense_Mutation | A | G | p.M101V |
| HCC2279_LUNG | 67100585 | 67100701 | 67100628 | 67100628 | Missense_Mutation | T | C | p.I109T |
| SNU407_LARGE_INTESTINE | 67116116 | 67116242 | 67116168 | 67116168 | Missense_Mutation | G | A | p.R151H |
| SNU407_LARGE_INTESTINE | 67116116 | 67116211 | 67116168 | 67116168 | Missense_Mutation | G | A | p.R151H |
| SNU1040_LARGE_INTESTINE | 67116116 | 67116242 | 67116168 | 67116168 | Missense_Mutation | G | A | p.R151H |
| SNU1040_LARGE_INTESTINE | 67116116 | 67116211 | 67116168 | 67116168 | Missense_Mutation | G | A | p.R151H |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67070542 | 67070658 | 67070608 | 67070608 | Nonsense_Mutation | C | T | p.R78* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CBFB |
| 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 CBFB |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CBFB |
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RelatedDrugs for CBFB |
| 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 CBFB |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CBFB | C0023467 | Leukemia, Myelocytic, Acute | 2 | CTD_human |
| CBFB | C0005941 | Bone Diseases, Developmental | 1 | CTD_human |
| CBFB | C0008925 | Cleft Palate | 1 | CTD_human |
| CBFB | C0018798 | Congenital Heart Defects | 1 | CTD_human |
| CBFB | C0023479 | Acute myelomonocytic leukemia | 1 | CTD_human;ORPHANET |
| CBFB | C0029396 | Heterotopic Ossification | 1 | CTD_human |
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