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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 CBFA2T3 |
 Gene summary |
| Gene information | Gene symbol | CBFA2T3 | Gene ID | 863 |
| Gene name | CBFA2/RUNX1 partner transcriptional co-repressor 3 | |
| Synonyms | ETO2|MTG16|MTGR2|RUNX1T3|ZMYND4 | |
| Cytomap | 16q24.3 | |
| Type of gene | protein-coding | |
| Description | protein CBFA2T3CBFA2/RUNX1 translocation partner 3MTG8-related gene 2MTG8-related protein 2core-binding factor, runt domain, alpha subunit 2; translocated to, 3myeloid translocation gene 8 and 16bmyeloid translocation gene on chromosome 16 proteinz | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| CBFA2T3 | GO:0001666 | response to hypoxia | 23840896 |
| CBFA2T3 | GO:0008285 | negative regulation of cell proliferation | 23840896 |
| CBFA2T3 | GO:0030851 | granulocyte differentiation | 15231665 |
| CBFA2T3 | GO:0045820 | negative regulation of glycolytic process | 23840896 |
| CBFA2T3 | GO:0045892 | negative regulation of transcription, DNA-templated | 23840896|25974097 |
| CBFA2T3 | GO:1903715 | regulation of aerobic respiration | 23840896 |
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Gene structures and expression levels for CBFA2T3 |
| 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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ENSG00000129993
| 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. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| 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 CBFA2T3 |
| 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_181192 | chr16 | 88880720:88880788:88880988:88881148:88881291:88881313 | 88880988:88881148 |
| exon_skip_190585 | chr16 | 88892399:88892485:88898078:88898152:88901504:88901656 | 88898078:88898152 |
| exon_skip_44946 | chr16 | 88879430:88879460:88880720:88880788:88881291:88881313 | 88880720:88880788 |
| exon_skip_67891 | chr16 | 88892475:88892485:88898078:88898152:88901504:88901656 | 88898078:88898152 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_215100 | Mayo_CB | 7.121739e-01 | 8.757895e-01 | -1.636156e-01 | 1.907295e-03 |
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Open reading frame (ORF) annotation in the exon skipping event for CBFA2T3 |
| 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 |
| ENST00000268679 | 88880720 | 88880788 | In-frame |
| ENST00000268679 | 88898078 | 88898152 | 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 |
| ENST00000268679 | 88898078 | 88898152 | 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 |
| ENST00000268679 | 88880720 | 88880788 | In-frame |
| ENST00000268679 | 88898078 | 88898152 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CBFA2T3 |
p-ENSG00000129993_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 |
| ENST00000268679 | 4494 | 653 | 88898078 | 88898152 | 702 | 775 | 101 | 126 |
| ENST00000268679 | 4494 | 653 | 88880720 | 88880788 | 1800 | 1867 | 467 | 490 |
| 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 |
| ENST00000268679 | 4494 | 653 | 88898078 | 88898152 | 702 | 775 | 101 | 126 |
| 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 |
| ENST00000268679 | 4494 | 653 | 88898078 | 88898152 | 702 | 775 | 101 | 126 |
| ENST00000268679 | 4494 | 653 | 88880720 | 88880788 | 1800 | 1867 | 467 | 490 |
| 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 |
| O75081 | 101 | 126 | 51 | 127 | Alternative sequence | ID=VSP_028621;Note=In isoform 3. APVDRKAKASAMPDSPAEVKTQPRSTPPSMPPPPPAASQGATRPPSFTPHTHREDGPATLPHGRFHGCLKWSMVCLL->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75081 | 101 | 126 | 52 | 653 | Alternative sequence | ID=VSP_028623;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75081 | 101 | 126 | 102 | 126 | Alternative sequence | ID=VSP_028624;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9596646;Dbxref=PMID:9596646 |
| O75081 | 101 | 126 | 1 | 653 | Chain | ID=PRO_0000307173;Note=Protein CBFA2T3 |
| O75081 | 101 | 126 | 1 | 435 | Region | Note=Mediates localization to the nucleus;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O75081 | 101 | 126 | 1 | 430 | Region | Note=Mediates interaction with PDE7A (in isoform 2) |
| O75081 | 101 | 126 | 1 | 127 | Region | Note=Required for nucleolar targeting (in isoform 1) |
| O75081 | 467 | 490 | 52 | 653 | Alternative sequence | ID=VSP_028623;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75081 | 467 | 490 | 1 | 653 | Chain | ID=PRO_0000307173;Note=Protein CBFA2T3 |
| O75081 | 467 | 490 | 488 | 543 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O75081 | 467 | 490 | 479 | 479 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| O75081 | 467 | 490 | 485 | 533 | Region | Note=Nervy homology region 3 (NHR3)%3B essential for down-regulation of PFKFB3%2C PFKFB4 and PDK1 expression;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23840896;Dbxref=PMID:23840896 |
| O75081 | 467 | 490 | 485 | 506 | Region | Note=Mediates interaction with PRKAR2A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11823486;Dbxref=PMID:11823486 |
| 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 |
| O75081 | 101 | 126 | 51 | 127 | Alternative sequence | ID=VSP_028621;Note=In isoform 3. APVDRKAKASAMPDSPAEVKTQPRSTPPSMPPPPPAASQGATRPPSFTPHTHREDGPATLPHGRFHGCLKWSMVCLL->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75081 | 101 | 126 | 52 | 653 | Alternative sequence | ID=VSP_028623;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75081 | 101 | 126 | 102 | 126 | Alternative sequence | ID=VSP_028624;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9596646;Dbxref=PMID:9596646 |
| O75081 | 101 | 126 | 1 | 653 | Chain | ID=PRO_0000307173;Note=Protein CBFA2T3 |
| O75081 | 101 | 126 | 1 | 435 | Region | Note=Mediates localization to the nucleus;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O75081 | 101 | 126 | 1 | 430 | Region | Note=Mediates interaction with PDE7A (in isoform 2) |
| O75081 | 101 | 126 | 1 | 127 | Region | Note=Required for nucleolar targeting (in isoform 1) |
| 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 |
| O75081 | 101 | 126 | 51 | 127 | Alternative sequence | ID=VSP_028621;Note=In isoform 3. APVDRKAKASAMPDSPAEVKTQPRSTPPSMPPPPPAASQGATRPPSFTPHTHREDGPATLPHGRFHGCLKWSMVCLL->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75081 | 101 | 126 | 52 | 653 | Alternative sequence | ID=VSP_028623;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75081 | 101 | 126 | 102 | 126 | Alternative sequence | ID=VSP_028624;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9596646;Dbxref=PMID:9596646 |
| O75081 | 101 | 126 | 1 | 653 | Chain | ID=PRO_0000307173;Note=Protein CBFA2T3 |
| O75081 | 101 | 126 | 1 | 435 | Region | Note=Mediates localization to the nucleus;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O75081 | 101 | 126 | 1 | 430 | Region | Note=Mediates interaction with PDE7A (in isoform 2) |
| O75081 | 101 | 126 | 1 | 127 | Region | Note=Required for nucleolar targeting (in isoform 1) |
| O75081 | 467 | 490 | 52 | 653 | Alternative sequence | ID=VSP_028623;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75081 | 467 | 490 | 1 | 653 | Chain | ID=PRO_0000307173;Note=Protein CBFA2T3 |
| O75081 | 467 | 490 | 488 | 543 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O75081 | 467 | 490 | 479 | 479 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| O75081 | 467 | 490 | 485 | 533 | Region | Note=Nervy homology region 3 (NHR3)%3B essential for down-regulation of PFKFB3%2C PFKFB4 and PDK1 expression;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23840896;Dbxref=PMID:23840896 |
| O75081 | 467 | 490 | 485 | 506 | Region | Note=Mediates interaction with PRKAR2A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11823486;Dbxref=PMID:11823486 |
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3'-UTR located exon skipping events that lost miRNA binding sites in CBFA2T3 |
| 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 CBFA2T3 |
| - 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 CBFA2T3 |
| 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 CBFA2T3 |
| 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 CBFA2T3 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM4 | exon_skip_44946 | -6.642244e-01 | 1.842077e-21 |
| CB | DAZAP1 | exon_skip_215100 | -5.044993e-01 | 1.709885e-09 |
| CB | TARDBP | exon_skip_215100 | -4.843067e-01 | 9.148731e-09 |
| CB | RBM6 | exon_skip_215100 | -4.209463e-01 | 9.199105e-07 |
| CB | SAMD4A | exon_skip_215100 | -5.786511e-01 | 1.279008e-12 |
| CB | CNOT4 | exon_skip_215100 | -5.669205e-01 | 4.507505e-12 |
| CB | PCBP1 | exon_skip_215100 | -5.272767e-01 | 2.250659e-10 |
| CB | PCBP4 | exon_skip_215100 | 5.867362e-01 | 5.211501e-13 |
| CB | SNRPA | exon_skip_215100 | -4.265095e-01 | 6.364282e-07 |
| CB | HNRNPA2B1 | exon_skip_215100 | -5.413792e-01 | 5.934991e-11 |
| CB | RBM45 | exon_skip_215100 | 7.104043e-01 | 1.209946e-20 |
| CB | RBM23 | exon_skip_215100 | -4.659014e-01 | 3.849690e-08 |
| CB | HNRNPF | exon_skip_215100 | -4.169942e-01 | 1.190371e-06 |
| CB | RBM4 | exon_skip_215100 | -7.219561e-01 | 1.449192e-21 |
| CB | RBM4B | exon_skip_215100 | -5.765591e-01 | 1.607045e-12 |
| CB | SAMD4A | exon_skip_181192 | -4.815102e-01 | 1.506950e-10 |
| CB | CNOT4 | exon_skip_181192 | -4.506919e-01 | 2.812686e-09 |
| CB | PCBP1 | exon_skip_181192 | -4.162451e-01 | 5.343818e-08 |
| CB | HNRNPA2B1 | exon_skip_181192 | -4.698286e-01 | 4.729301e-10 |
| CB | RBM45 | exon_skip_181192 | 5.398391e-01 | 2.488885e-13 |
| CB | CNOT4 | exon_skip_190585 | -4.063715e-01 | 1.286112e-07 |
| CB | FXR2 | exon_skip_190585 | -4.070082e-01 | 1.223941e-07 |
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RelatedDrugs for CBFA2T3 |
| 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 CBFA2T3 |
| 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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