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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 BCL3 |
 Gene summary |
| Gene information | Gene symbol | BCL3 | Gene ID | 602 |
| Gene name | B cell CLL/lymphoma 3 | |
| Synonyms | BCL4|D19S37 | |
| Cytomap | 19q13.32 | |
| Type of gene | protein-coding | |
| Description | B-cell lymphoma 3 proteinB-cell leukemia/lymphoma 3B-cell lymphoma 3-encoded proteinBCL-3chronic lymphatic leukemia proteinproto-oncogene BCL3 | |
| Modification date | 20180519 | |
| UniProtAcc | P20749 | |
| Context | PubMed: BCL3 [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 |
| BCL3 | GO:0006351 | transcription, DNA-templated | 16306601 |
| BCL3 | GO:0006974 | cellular response to DNA damage stimulus | 16384933 |
| BCL3 | GO:0007249 | I-kappaB kinase/NF-kappaB signaling | 8196632 |
| BCL3 | GO:0009615 | response to virus | 16306601 |
| BCL3 | GO:0010225 | response to UV-C | 16384933 |
| BCL3 | GO:0042981 | regulation of apoptotic process | 16732314 |
| BCL3 | GO:0043066 | negative regulation of apoptotic process | 16384933 |
| BCL3 | GO:0045892 | negative regulation of transcription, DNA-templated | 16306601 |
| BCL3 | GO:0045893 | positive regulation of transcription, DNA-templated | 16384933 |
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Exon skipping events across known transcript of Ensembl for BCL3 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 BCL3 |
| 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 BCL3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_307920 | 19 | 45251803:45252303:45254483:45254637:45259488:45259597 | 45254483:45254637 | ENSG00000069399.8 | ENST00000164227.5 |
| exon_skip_307921 | 19 | 45259488:45259597:45260273:45260478:45260583:45260621 | 45260273:45260478 | ENSG00000069399.8 | ENST00000403534.3,ENST00000164227.5,ENST00000444487.1,ENST00000464319.1 |
| exon_skip_307925 | 19 | 45260273:45260478:45260583:45260672:45260902:45260980 | 45260583:45260672 | ENSG00000069399.8 | ENST00000403534.3,ENST00000164227.5,ENST00000444487.1 |
| exon_skip_307926 | 19 | 45260583:45260672:45260902:45260980:45261502:45261670 | 45260902:45260980 | ENSG00000069399.8 | ENST00000403534.3,ENST00000164227.5,ENST00000444487.1 |
| exon_skip_307927 | 19 | 45260913:45260980:45261502:45261670:45261980:45262098 | 45261502:45261670 | ENSG00000069399.8 | ENST00000474300.1,ENST00000164227.5 |
| exon_skip_307928 | 19 | 45260913:45260980:45261502:45261730:45261980:45262098 | 45261502:45261730 | ENSG00000069399.8 | ENST00000444487.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for BCL3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_307920 | 19 | 45251803:45252303:45254483:45254637:45259488:45259597 | 45254483:45254637 | ENSG00000069399.8 | ENST00000164227.5 |
| exon_skip_307921 | 19 | 45259488:45259597:45260273:45260478:45260583:45260621 | 45260273:45260478 | ENSG00000069399.8 | ENST00000403534.3,ENST00000164227.5,ENST00000444487.1,ENST00000464319.1 |
| exon_skip_307925 | 19 | 45260273:45260478:45260583:45260672:45260902:45260980 | 45260583:45260672 | ENSG00000069399.8 | ENST00000403534.3,ENST00000164227.5,ENST00000444487.1 |
| exon_skip_307927 | 19 | 45260913:45260980:45261502:45261670:45261980:45262098 | 45261502:45261670 | ENSG00000069399.8 | ENST00000164227.5,ENST00000474300.1 |
| exon_skip_307928 | 19 | 45260913:45260980:45261502:45261730:45261980:45262098 | 45261502:45261730 | ENSG00000069399.8 | ENST00000444487.1 |
| 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 BCL3 |
| 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 |
| ENST00000164227 | 45254483 | 45254637 | Frame-shift |
| ENST00000164227 | 45260273 | 45260478 | Frame-shift |
| ENST00000164227 | 45260583 | 45260672 | Frame-shift |
| ENST00000164227 | 45260902 | 45260980 | In-frame |
| ENST00000164227 | 45261502 | 45261670 | 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 |
| ENST00000164227 | 45254483 | 45254637 | Frame-shift |
| ENST00000164227 | 45260273 | 45260478 | Frame-shift |
| ENST00000164227 | 45260583 | 45260672 | Frame-shift |
| ENST00000164227 | 45261502 | 45261670 | In-frame |
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Infer the effects of exon skipping event on protein functional features for BCL3 |
| 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 |
| ENST00000164227 | 2055 | 454 | 45260902 | 45260980 | 1058 | 1135 | 271 | 297 |
| ENST00000164227 | 2055 | 454 | 45261502 | 45261670 | 1136 | 1303 | 297 | 353 |
| 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 |
| ENST00000164227 | 2055 | 454 | 45261502 | 45261670 | 1136 | 1303 | 297 | 353 |
| 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 |
| P20749 | 271 | 297 | 1 | 454 | Chain | ID=PRO_0000066976;Note=B-cell lymphoma 3 protein |
| P20749 | 271 | 297 | 279 | 285 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1K1A |
| P20749 | 271 | 297 | 289 | 297 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1K1A |
| P20749 | 271 | 297 | 275 | 304 | Repeat | Note=ANK 5 |
| P20749 | 271 | 297 | 273 | 275 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1K1A |
| P20749 | 297 | 353 | 1 | 454 | Chain | ID=PRO_0000066976;Note=B-cell lymphoma 3 protein |
| P20749 | 297 | 353 | 289 | 297 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1K1A |
| P20749 | 297 | 353 | 312 | 319 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1K1A |
| P20749 | 297 | 353 | 322 | 330 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1K1A |
| P20749 | 297 | 353 | 352 | 358 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1K1A |
| P20749 | 297 | 353 | 275 | 304 | Repeat | Note=ANK 5 |
| P20749 | 297 | 353 | 308 | 337 | Repeat | Note=ANK 6 |
| P20749 | 297 | 353 | 338 | 367 | Repeat | Note=ANK 7 |
| P20749 | 297 | 353 | 345 | 348 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1K1A |
| 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 |
| P20749 | 297 | 353 | 1 | 454 | Chain | ID=PRO_0000066976;Note=B-cell lymphoma 3 protein |
| P20749 | 297 | 353 | 289 | 297 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1K1A |
| P20749 | 297 | 353 | 312 | 319 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1K1A |
| P20749 | 297 | 353 | 322 | 330 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1K1A |
| P20749 | 297 | 353 | 352 | 358 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1K1A |
| P20749 | 297 | 353 | 275 | 304 | Repeat | Note=ANK 5 |
| P20749 | 297 | 353 | 308 | 337 | Repeat | Note=ANK 6 |
| P20749 | 297 | 353 | 338 | 367 | Repeat | Note=ANK 7 |
| P20749 | 297 | 353 | 345 | 348 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1K1A |
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SNVs in the skipped exons for BCL3 |
| - 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-A3A0-01 | exon_skip_307921 | 45260274 | 45260478 | 45260345 | 45260345 | Frame_Shift_Del | C | - | p.S197fs |
| BRCA | TCGA-BH-A1F5-01 | exon_skip_307925 | 45260584 | 45260672 | 45260669 | 45260680 | Frame_Shift_Del | AGTGGTGAGCGT | - | p.V271fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_307926 | 45260903 | 45260980 | 45260943 | 45260943 | Frame_Shift_Del | A | - | p.E285fs |
| - 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 |
| NCIH1355_LUNG | 45254484 | 45254637 | 45254526 | 45254526 | Missense_Mutation | C | T | p.P100L |
| SNUC5_LARGE_INTESTINE | 45254484 | 45254637 | 45254584 | 45254584 | Missense_Mutation | C | G | p.H119Q |
| ROS50_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45254484 | 45254637 | 45254607 | 45254607 | Missense_Mutation | T | C | p.M127T |
| EFO27_OVARY | 45260274 | 45260478 | 45260401 | 45260401 | Missense_Mutation | G | A | p.R216H |
| NCIH1836_LUNG | 45260584 | 45260672 | 45260601 | 45260601 | Missense_Mutation | G | A | p.V248M |
| SNUC5_LARGE_INTESTINE | 45260903 | 45260980 | 45260913 | 45260913 | Missense_Mutation | G | A | p.S275N |
| SNU1040_LARGE_INTESTINE | 45261503 | 45261730 | 45261558 | 45261558 | Missense_Mutation | C | T | p.A316V |
| SNU1040_LARGE_INTESTINE | 45261503 | 45261670 | 45261558 | 45261558 | Missense_Mutation | C | T | p.A316V |
| NCIH1105_LUNG | 45261503 | 45261730 | 45261642 | 45261642 | Missense_Mutation | C | A | p.T344K |
| NCIH1105_LUNG | 45261503 | 45261670 | 45261642 | 45261642 | Missense_Mutation | C | A | p.T344K |
| HS834T_FIBROBLAST | 45260903 | 45260980 | 45260904 | 45260904 | Splice_Site | A | G | p.D272G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BCL3 |
| 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 BCL3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BCL3 |
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RelatedDrugs for BCL3 |
| 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 BCL3 |
| 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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