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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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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 | 20200320 | |
| UniProtAcc | A0A024R6W3, | |
| Context |
| 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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Gene structures and expression levels for CBFB |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000067955
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| PCC | UP | ENST00000652116.1 | CBFB-212:lncRNA:CBFB | 1.221304e+01 | 3.690671e+00 | 1.330570e-08 | 1.312559e-05 |
| CB | DOWN | ENST00000652116.1 | CBFB-212:lncRNA:CBFB | 1.239941e+02 | -1.741276e+00 | 1.548574e-07 | 3.072545e-06 |
| CB | UP | ENST00000290858.11 | CBFB-201:protein_coding:CBFB | 4.056309e+01 | 1.585602e+00 | 6.734796e-03 | 2.512543e-02 |
| TC | DOWN | ENST00000652116.1 | CBFB-212:lncRNA:CBFB | 9.413157e+01 | -1.273775e+00 | 5.361031e-06 | 1.574721e-04 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for CBFB |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_131051 | chr16 | 67066741:67066798:67082213:67082308:67098710:67098811 | 67082213:67082308 |
| exon_skip_135461 | chr16 | 67029727:67029813:67036639:67036755:67066682:67066700 | 67036639:67036755 |
| exon_skip_15714 | chr16 | 67066741:67066798:67082213:67082339:67098710:67098811 | 67082213:67082339 |
| exon_skip_203065 | chr16 | 67029727:67029813:67036639:67036755:67046152:67046269 | 67036639:67036755 |
| exon_skip_208796 | chr16 | 67066682:67066798:67082213:67082308:67098710:67098811 | 67082213:67082308 |
| exon_skip_21541 | chr16 | 67066682:67066798:67082213:67082339:67098710:67098811 | 67082213:67082339 |
| exon_skip_286245 | chr16 | 67029727:67029813:67066682:67066798:67082213:67082234 | 67066682:67066798 |
| exon_skip_40711 | chr16 | 67036639:67036755:67066682:67066798:67082213:67082234 | 67066682:67066798 |
| exon_skip_47551 | chr16 | 67029727:67029813:67036639:67036755:67066682:67066798 | 67036639:67036755 |
| exon_skip_65679 | chr16 | 67036639:67036755:67046152:67046269:67066682:67066798 | 67046152:67046269 |
| exon_skip_70189 | chr16 | 67036639:67036755:67046152:67046269:67066682:67066700 | 67046152:67046269 |
| exon_skip_70929 | chr16 | 67036675:67036755:67066682:67066798:67082213:67082234 | 67066682:67066798 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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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 ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000290858 | 67082213 | 67082339 | Frame-shift |
| ENST00000290858 | 67036639 | 67036755 | In-frame |
| ENST00000290858 | 67066682 | 67066798 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000290858 | 67082213 | 67082339 | Frame-shift |
| ENST00000290858 | 67036639 | 67036755 | In-frame |
| ENST00000290858 | 67066682 | 67066798 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000290858 | 67082213 | 67082339 | Frame-shift |
| ENST00000290858 | 67036639 | 67036755 | In-frame |
| ENST00000290858 | 67066682 | 67066798 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CBFB |
p-ENSG00000067955_img4.png |
| Loci of skipped exons in ROSMAP 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 | 67036639 | 67036755 | 428 | 543 | 55 | 94 |
| ENST00000290858 | 3153 | 182 | 67066682 | 67066798 | 545 | 660 | 94 | 133 |
| Loci of skipped exons in MSBB 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 | 67036639 | 67036755 | 428 | 543 | 55 | 94 |
| ENST00000290858 | 3153 | 182 | 67066682 | 67066798 | 545 | 660 | 94 | 133 |
| Loci of skipped exons in Mayo 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 | 67036639 | 67036755 | 428 | 543 | 55 | 94 |
| ENST00000290858 | 3153 | 182 | 67066682 | 67066798 | 545 | 660 | 94 | 133 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 MSBB. |
| 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 Mayo. |
| 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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3'-UTR located exon skipping events that lost miRNA binding sites in CBFB |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for CBFB |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for CBFB |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CBFB |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for CBFB |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | PCBP1 | exon_skip_40711 | -4.112087e-01 | 1.893589e-07 |
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RelatedDrugs for CBFB |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| 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 |
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