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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 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 | 20180524 | |
| UniProtAcc | Q9NYF8 | |
| Context | PubMed: BCLAF1 [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 |
| BCLAF1 | GO:0043065 | positive regulation of apoptotic process | 10330179 |
| BCLAF1 | GO:0045892 | negative regulation of transcription, DNA-templated | 10330179 |
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Exon skipping events across known transcript of Ensembl for BCLAF1 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 BCLAF1 |
| 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 BCLAF1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_462554 | 6 | 136582438:136582615:136588166:136588313:136589299:136589411 | 136588166:136588313 | ENSG00000029363.11 | ENST00000526228.1,ENST00000527613.1,ENST00000031135.9,ENST00000530767.1,ENST00000534762.1,ENST00000527759.1,ENST00000529917.1,ENST00000534269.1,ENST00000531224.1 |
| exon_skip_462556 | 6 | 136589299:136589477:136590278:136590441:136590574:136590658 | 136590278:136590441 | ENSG00000029363.11 | ENST00000530429.1,ENST00000527613.1,ENST00000529917.1,ENST00000534269.1,ENST00000532384.1 |
| exon_skip_462558 | 6 | 136590613:136590750:136591460:136591521:136593132:136593214 | 136591460:136591521 | ENSG00000029363.11 | ENST00000532076.1 |
| exon_skip_462559 | 6 | 136594219:136594325:136595100:136595327:136596669:136596839 | 136595100:136595327 | ENSG00000029363.11 | ENST00000534269.1 |
| exon_skip_462560 | 6 | 136594219:136594325:136596669:136596839:136596980:136597127 | 136596669:136596839 | ENSG00000029363.11 | ENST00000529826.1,ENST00000530429.1,ENST00000527613.1,ENST00000353331.4,ENST00000530767.1,ENST00000527759.1,ENST00000392348.2,ENST00000527536.1,ENST00000531224.1,ENST00000532384.1 |
| exon_skip_462561 | 6 | 136596980:136597127:136597605:136597646:136599002:136599241 | 136597605:136597646 | ENSG00000029363.11 | ENST00000533621.1 |
| exon_skip_462562 | 6 | 136600900:136601014:136603721:136603825:136610850:136610919 | 136603721:136603825 | ENSG00000029363.11 | ENST00000529826.1,ENST00000530429.1,ENST00000527613.1,ENST00000528229.1,ENST00000353331.4,ENST00000530767.1,ENST00000527759.1,ENST00000534269.1,ENST00000527536.1,ENST00000532384.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for BCLAF1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_462554 | 6 | 136582438:136582615:136588166:136588313:136589299:136589411 | 136588166:136588313 | ENSG00000029363.11 | ENST00000531224.1,ENST00000527613.1,ENST00000530767.1,ENST00000527759.1,ENST00000534269.1,ENST00000031135.9,ENST00000534762.1,ENST00000529917.1,ENST00000526228.1 |
| exon_skip_462556 | 6 | 136589299:136589477:136590278:136590441:136590574:136590658 | 136590278:136590441 | ENSG00000029363.11 | ENST00000527613.1,ENST00000534269.1,ENST00000532384.1,ENST00000530429.1,ENST00000529917.1 |
| exon_skip_462558 | 6 | 136590613:136590750:136591460:136591521:136593132:136593214 | 136591460:136591521 | ENSG00000029363.11 | ENST00000532076.1 |
| exon_skip_462559 | 6 | 136594219:136594325:136595100:136595327:136596669:136596839 | 136595100:136595327 | ENSG00000029363.11 | ENST00000534269.1 |
| exon_skip_462560 | 6 | 136594219:136594325:136596669:136596839:136596980:136597127 | 136596669:136596839 | ENSG00000029363.11 | ENST00000531224.1,ENST00000353331.4,ENST00000527536.1,ENST00000527613.1,ENST00000530767.1,ENST00000527759.1,ENST00000532384.1,ENST00000530429.1,ENST00000392348.2,ENST00000529826.1 |
| exon_skip_462561 | 6 | 136596980:136597127:136597605:136597646:136599002:136599241 | 136597605:136597646 | ENSG00000029363.11 | ENST00000533621.1 |
| exon_skip_462562 | 6 | 136600900:136601014:136603721:136603825:136610850:136610919 | 136603721:136603825 | ENSG00000029363.11 | ENST00000353331.4,ENST00000527536.1,ENST00000527613.1,ENST00000530767.1,ENST00000527759.1,ENST00000534269.1,ENST00000532384.1,ENST00000530429.1,ENST00000529826.1,ENST00000528229.1 |
| 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 BCLAF1 |
| 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 |
| ENST00000531224 | 136596669 | 136596839 | Frame-shift |
| ENST00000531224 | 136588166 | 136588313 | 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 |
| ENST00000531224 | 136596669 | 136596839 | Frame-shift |
| ENST00000531224 | 136588166 | 136588313 | In-frame |
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Infer the effects of exon skipping event on protein functional features for BCLAF1 |
| 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 |
| ENST00000531224 | 7280 | 920 | 136588166 | 136588313 | 2651 | 2797 | 799 | 848 |
| 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 |
| ENST00000531224 | 7280 | 920 | 136588166 | 136588313 | 2651 | 2797 | 799 | 848 |
| 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 |
| Q9NYF8 | 799 | 848 | 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 | 848 | 1 | 920 | Chain | ID=PRO_0000064888;Note=Bcl-2-associated transcription factor 1 |
| Q9NYF8 | 799 | 848 | 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 | 848 | 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 | 848 | 803 | 803 | Modified residue | Note=Citrulline;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9NYF8 | 799 | 848 | 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 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 |
| Q9NYF8 | 799 | 848 | 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 | 848 | 1 | 920 | Chain | ID=PRO_0000064888;Note=Bcl-2-associated transcription factor 1 |
| Q9NYF8 | 799 | 848 | 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 | 848 | 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 | 848 | 803 | 803 | Modified residue | Note=Citrulline;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9NYF8 | 799 | 848 | 809 | 809 | Modified residue | Note=Omega-N-methylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 |
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SNVs in the skipped exons for BCLAF1 |
| - 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 |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_462560 | 136596670 | 136596839 | 136596780 | 136596780 | Frame_Shift_Del | T | - | p.K581fs |
| ESCA | TCGA-R6-A6L6-01 | exon_skip_462560 | 136596670 | 136596839 | 136596775 | 136596775 | Nonsense_Mutation | G | A | p.Q583X |
| KICH | TCGA-KL-8331-01 | exon_skip_462560 | 136596670 | 136596839 | 136596668 | 136596668 | Splice_Site | A | C | . |
| KIRP | TCGA-A4-7286-01 | exon_skip_462560 | 136596670 | 136596839 | 136596669 | 136596669 | Splice_Site | C | T | . |
| KIRP | TCGA-BQ-5878-01 | exon_skip_462560 | 136596670 | 136596839 | 136596669 | 136596669 | Splice_Site | C | T | . |
| LGG | TCGA-HT-A61C-01 | exon_skip_462560 | 136596670 | 136596839 | 136596669 | 136596669 | Splice_Site | C | T | . |
| PCPG | TCGA-RW-A68A-01 | exon_skip_462560 | 136596670 | 136596839 | 136596669 | 136596669 | Splice_Site | C | T | . |
| STAD | TCGA-HU-8610-01 | exon_skip_462560 | 136596670 | 136596839 | 136596669 | 136596669 | Splice_Site | C | T | . |
| STAD | TCGA-HU-A4GP-01 | exon_skip_462560 | 136596670 | 136596839 | 136596669 | 136596669 | Splice_Site | C | T | . |
| UVM | TCGA-VD-AA8Q-01 | exon_skip_462560 | 136596670 | 136596839 | 136596669 | 136596669 | Splice_Site | C | T | . |
| - 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 |
| FUOV1_OVARY | 136596670 | 136596839 | 136596711 | 136596712 | Frame_Shift_Ins | - | A | p.S604fs |
| SNU407_LARGE_INTESTINE | 136588167 | 136588313 | 136588222 | 136588222 | Missense_Mutation | G | A | p.P830L |
| HCC2998_LARGE_INTESTINE | 136588167 | 136588313 | 136588244 | 136588244 | Missense_Mutation | T | G | p.N823H |
| GAK_SKIN | 136588167 | 136588313 | 136588258 | 136588258 | Missense_Mutation | C | G | p.G818A |
| NCIH650_LUNG | 136588167 | 136588313 | 136588285 | 136588285 | Missense_Mutation | C | T | p.R809K |
| HEC251_ENDOMETRIUM | 136588167 | 136588313 | 136588309 | 136588309 | Missense_Mutation | C | T | p.R801Q |
| HT115_LARGE_INTESTINE | 136588167 | 136588313 | 136588309 | 136588309 | Missense_Mutation | C | T | p.R801Q |
| NCIH740_LUNG | 136596670 | 136596839 | 136596681 | 136596681 | Missense_Mutation | T | C | p.H614R |
| HCC38_BREAST | 136596670 | 136596839 | 136596714 | 136596714 | Missense_Mutation | T | C | p.E603G |
| HCC38_MATCHED_NORMAL_TISSUE | 136596670 | 136596839 | 136596714 | 136596714 | Missense_Mutation | T | C | p.E603G |
| SLVL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 136596670 | 136596839 | 136596728 | 136596728 | Missense_Mutation | G | T | p.S598R |
| LXF289_LUNG | 136596670 | 136596839 | 136596751 | 136596751 | Missense_Mutation | G | T | p.H591N |
| SW48_LARGE_INTESTINE | 136596670 | 136596839 | 136596765 | 136596765 | Missense_Mutation | C | T | p.R586Q |
| HEC251_ENDOMETRIUM | 136597606 | 136597646 | 136597611 | 136597611 | Missense_Mutation | T | G | p.D351A |
| LU134A_LUNG | 136597606 | 136597646 | 136597612 | 136597612 | Missense_Mutation | C | G | p.D351H |
| HEC251_ENDOMETRIUM | 136597606 | 136597646 | 136597624 | 136597624 | Missense_Mutation | C | A | p.V347L |
| LU134A_LUNG | 136597606 | 136597646 | 136597636 | 136597636 | Nonsense_Mutation | C | A | p.E343* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BCLAF1 |
| 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 BCLAF1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BCLAF1 |
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RelatedDrugs for BCLAF1 |
| 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 BCLAF1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| BCLAF1 | C0149925 | Small cell carcinoma of lung | 1 | CTD_human |
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