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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 BCLAF1 |
 Gene summary |
| Gene information | Gene symbol | BCLAF1 | Gene ID | 9774 |
| Gene name | BCL2 associated transcription factor 1 | |
| Synonyms | BTF|bK211L9.1 | |
| Cytomap | 6q23.3 | |
| Type of gene | protein-coding | |
| Description | bcl-2-associated transcription factor 1BCLAF1 and THRAP3 family member 1 | |
| Modification date | 20200315 | |
| 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 |
| BCLAF1 | GO:0043065 | positive regulation of apoptotic process | 10330179 |
| BCLAF1 | GO:0045892 | negative regulation of transcription, DNA-templated | 10330179 |
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Gene structures and expression levels for BCLAF1 |
| 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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ENSG00000029363
| 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 |
| CB | UP | ENST00000534269.5 | BCLAF1-219:nonsense_mediated_decay:BCLAF1 | 1.813246e+02 | 1.338412e+00 | 1.784008e-10 | 1.029091e-08 |
| CB | UP | ENST00000526228.1 | BCLAF1-204:retained_intron:BCLAF1 | 1.055849e+02 | 1.176368e+00 | 7.463776e-07 | 1.168365e-05 |
| CB | DOWN | ENST00000353331.8 | BCLAF1-201:protein_coding:BCLAF1 | 1.151487e+03 | -8.188439e-01 | 1.061481e-06 | 1.577069e-05 |
| CB | UP | ENST00000528229.1 | BCLAF1-208:retained_intron:BCLAF1 | 5.537938e+00 | 9.539668e-01 | 1.622164e-06 | 2.262464e-05 |
| CB | UP | ENST00000534792.5 | BCLAF1-222:retained_intron:BCLAF1 | 2.522286e+01 | 8.940070e-01 | 2.159159e-06 | 2.883539e-05 |
| CB | UP | ENST00000534762.5 | BCLAF1-221:protein_coding:BCLAF1 | 1.996082e+01 | 1.527635e+00 | 3.040412e-06 | 3.863359e-05 |
| CB | UP | ENST00000527536.5 | BCLAF1-205:protein_coding:BCLAF1 | 2.581971e+03 | 8.005013e-01 | 3.831605e-05 | 3.281959e-04 |
| CB | UP | ENST00000529826.5 | BCLAF1-210:protein_coding:BCLAF1 | 5.550147e+00 | 8.844497e-01 | 2.699037e-03 | 1.181882e-02 |
| CB | UP | ENST00000530429.5 | BCLAF1-212:nonsense_mediated_decay:BCLAF1 | 1.249582e+00 | 1.451172e+00 | 1.335547e-02 | 4.392523e-02 |
| 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 BCLAF1 |
| 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_135341 | chr6 | 136269476:136269612:136270323:136270383:136271995:136272076 | 136270323:136270383 |
| exon_skip_185788 | chr6 | 136275843:136275989:136276468:136276508:136277865:136278103 | 136276468:136276508 |
| exon_skip_199024 | chr6 | 136273082:136273187:136273963:136274189:136275532:136275681 | 136273963:136274189 |
| exon_skip_199253 | chr6 | 136273082:136273187:136273963:136274189:136275532:136275569 | 136273963:136274189 |
| exon_skip_213114 | chr6 | 136273082:136273187:136273963:136274189:136275532:136275677 | 136273963:136274189 |
| exon_skip_226853 | chr6 | 136261378:136261477:136267029:136267175:136268162:136268273 | 136267029:136267175 |
| exon_skip_23502 | chr6 | 136273082:136273187:136273963:136274189:136275532:136275701 | 136273963:136274189 |
| exon_skip_294447 | chr6 | 136268162:136268339:136269141:136269303:136269437:136269520 | 136269141:136269303 |
| exon_skip_31226 | chr6 | 136277865:136278776:136279763:136279876:136282584:136282687 | 136279763:136279876 |
| exon_skip_3789 | chr6 | 136261301:136261477:136267029:136267175:136268162:136268273 | 136267029:136267175 |
| exon_skip_53732 | chr6 | 136279763:136279876:136282584:136282687:136289713:136289781 | 136282584:136282687 |
| 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 BCLAF1 |
| 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 |
| ENST00000531224 | 136267029 | 136267175 | 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 |
| ENST00000531224 | 136267029 | 136267175 | 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 |
| ENST00000531224 | 136279763 | 136279876 | 3UTR-3CDS |
| ENST00000531224 | 136267029 | 136267175 | In-frame |
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Infer the effects of exon skipping event on protein functional features for BCLAF1 |
p-ENSG00000029363_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 |
| ENST00000531224 | 7280 | 920 | 136267029 | 136267175 | 2651 | 2796 | 799 | 847 |
| 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 |
| ENST00000531224 | 7280 | 920 | 136267029 | 136267175 | 2651 | 2796 | 799 | 847 |
| 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 |
| ENST00000531224 | 7280 | 920 | 136267029 | 136267175 | 2651 | 2796 | 799 | 847 |
| 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 |
| Q9NYF8 | 799 | 847 | 800 | 848 | Alternative sequence | ID=VSP_010370;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10330179;Dbxref=PMID:10330179 |
| Q9NYF8 | 799 | 847 | 1 | 920 | Chain | ID=PRO_0000064888;Note=Bcl-2-associated transcription factor 1 |
| Q9NYF8 | 799 | 847 | 831 | 831 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:25114211;Dbxref=PMID:25114211 |
| Q9NYF8 | 799 | 847 | 831 | 831 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25114211,ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:25772364,ECO:0000244|P |
| Q9NYF8 | 799 | 847 | 803 | 803 | Modified residue | Note=Citrulline;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9NYF8 | 799 | 847 | 809 | 809 | Modified residue | Note=Omega-N-methylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 |
| 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 |
| Q9NYF8 | 799 | 847 | 800 | 848 | Alternative sequence | ID=VSP_010370;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10330179;Dbxref=PMID:10330179 |
| Q9NYF8 | 799 | 847 | 1 | 920 | Chain | ID=PRO_0000064888;Note=Bcl-2-associated transcription factor 1 |
| Q9NYF8 | 799 | 847 | 831 | 831 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:25114211;Dbxref=PMID:25114211 |
| Q9NYF8 | 799 | 847 | 831 | 831 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25114211,ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:25772364,ECO:0000244|P |
| Q9NYF8 | 799 | 847 | 803 | 803 | Modified residue | Note=Citrulline;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9NYF8 | 799 | 847 | 809 | 809 | Modified residue | Note=Omega-N-methylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 |
| 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 |
| Q9NYF8 | 799 | 847 | 800 | 848 | Alternative sequence | ID=VSP_010370;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10330179;Dbxref=PMID:10330179 |
| Q9NYF8 | 799 | 847 | 1 | 920 | Chain | ID=PRO_0000064888;Note=Bcl-2-associated transcription factor 1 |
| Q9NYF8 | 799 | 847 | 831 | 831 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:25114211;Dbxref=PMID:25114211 |
| Q9NYF8 | 799 | 847 | 831 | 831 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25114211,ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:25772364,ECO:0000244|P |
| Q9NYF8 | 799 | 847 | 803 | 803 | Modified residue | Note=Citrulline;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9NYF8 | 799 | 847 | 809 | 809 | Modified residue | Note=Omega-N-methylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 |
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3'-UTR located exon skipping events that lost miRNA binding sites in BCLAF1 |
| 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 BCLAF1 |
| - 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 BCLAF1 |
| 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 |
| CDR | MSBB | IFG | exon_skip_294447 | 3.803907e-01 | 4.584116e-02 | chr6 | - | 136268162 | 136268339 | 136269141 | 136269303 | 136269437 | 136269520 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BCLAF1 |
| 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 BCLAF1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | TIA1 | exon_skip_3789 | 4.669710e-01 | 6.215556e-10 |
| CB | HNRNPDL | exon_skip_3789 | 4.414779e-01 | 6.386183e-09 |
| CB | NUP42 | exon_skip_3789 | 5.319768e-01 | 6.347592e-13 |
| CB | RALYL | exon_skip_3789 | 4.223974e-01 | 3.234533e-08 |
| CB | PABPC1 | exon_skip_3789 | 4.425132e-01 | 5.831133e-09 |
| CB | ELAVL1 | exon_skip_294447 | -4.084205e-01 | 1.454606e-07 |
| CB | CNOT4 | exon_skip_294447 | -5.035571e-01 | 2.802160e-11 |
| CB | FXR2 | exon_skip_294447 | -4.257728e-01 | 3.693098e-08 |
| DLPFC | RBFOX2 | exon_skip_3789 | 4.721703e-01 | 2.786645e-20 |
| FL | RBFOX2 | exon_skip_3789 | 4.221966e-01 | 7.112762e-10 |
| HCC | RBFOX2 | exon_skip_3789 | 4.322649e-01 | 8.245978e-14 |
| HCC | RALY | exon_skip_3789 | -4.227285e-01 | 3.239906e-13 |
| HCC | PTBP1 | exon_skip_3789 | -5.004928e-01 | 1.192671e-18 |
| HCC | MSI1 | exon_skip_294447 | 4.300537e-01 | 1.136865e-13 |
| HCC | RBM6 | exon_skip_294447 | 5.032183e-01 | 7.241768e-19 |
| HCC | IGF2BP2 | exon_skip_294447 | 4.046056e-01 | 3.885989e-12 |
| IFG | RBFOX2 | exon_skip_3789 | 4.672129e-01 | 1.218616e-02 |
| IFG | IGF2BP3 | exon_skip_3789 | -5.240413e-01 | 4.205572e-03 |
| IFG | RBM6 | exon_skip_294447 | 4.646279e-01 | 1.273864e-02 |
| IFG | IGF2BP2 | exon_skip_294447 | 5.908216e-01 | 9.318671e-04 |
| IFG | FXR2 | exon_skip_294447 | -5.303694e-01 | 3.693249e-03 |
| IFG | RBM47 | exon_skip_294447 | 6.045132e-01 | 6.564531e-04 |
| IFG | G3BP2 | exon_skip_294447 | -5.728854e-01 | 1.441293e-03 |
| PCC | RBFOX2 | exon_skip_3789 | 6.123247e-01 | 2.621779e-23 |
| PCC | PTBP1 | exon_skip_3789 | -5.673905e-01 | 1.515441e-19 |
| PCC | MSI1 | exon_skip_294447 | 5.064284e-01 | 4.437383e-15 |
| PCC | RBM6 | exon_skip_294447 | 4.342886e-01 | 4.531028e-11 |
| PCC | RBM47 | exon_skip_294447 | 4.738172e-01 | 3.769205e-13 |
| PCC | G3BP2 | exon_skip_294447 | -5.299797e-01 | 1.319539e-16 |
| PG | RBFOX2 | exon_skip_3789 | 5.188943e-01 | 6.638651e-15 |
| PG | RALYL | exon_skip_3789 | 4.216472e-01 | 7.521991e-10 |
| STG | RBFOX2 | exon_skip_3789 | 5.032939e-01 | 4.982808e-07 |
| STG | RALYL | exon_skip_3789 | 4.120276e-01 | 6.024557e-05 |
| STG | G3BP2 | exon_skip_294447 | -4.134574e-01 | 5.645530e-05 |
| STG | RALYL | exon_skip_294447 | -4.258482e-01 | 3.174890e-05 |
| TC | SRSF2 | exon_skip_226853 | 4.497219e-01 | 2.434136e-09 |
| TC | RBFOX2 | exon_skip_226853 | 5.265488e-01 | 8.581465e-13 |
| TC | RBM3 | exon_skip_226853 | 5.253651e-01 | 9.852728e-13 |
| TC | HNRNPA0 | exon_skip_226853 | 4.727998e-01 | 2.739688e-10 |
| TC | NUP42 | exon_skip_226853 | 4.674705e-01 | 4.603407e-10 |
| TC | RALYL | exon_skip_226853 | 5.448836e-01 | 9.415775e-14 |
| TC | PTBP1 | exon_skip_226853 | -4.728179e-01 | 2.734817e-10 |
| TC | G3BP2 | exon_skip_294447 | -4.501298e-01 | 2.345228e-09 |
| TC | KHDRBS2 | exon_skip_294447 | -4.700253e-01 | 3.593516e-10 |
| TC | RBM24 | exon_skip_294447 | -4.552146e-01 | 1.468664e-09 |
| TC | NUP42 | exon_skip_294447 | -4.043231e-01 | 1.142897e-07 |
| TC | RALYL | exon_skip_294447 | -4.838257e-01 | 9.097600e-11 |
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RelatedDrugs for BCLAF1 |
| 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 BCLAF1 |
| 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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