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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 BCL2L11 |
 Gene summary |
| Gene information | Gene symbol | BCL2L11 | Gene ID | 10018 |
| Gene name | BCL2 like 11 | |
| Synonyms | BAM|BIM|BOD | |
| Cytomap | 2q13 | |
| Type of gene | protein-coding | |
| Description | bcl-2-like protein 11BCL2-like 11 (apoptosis facilitator)bcl-2 interacting mediator of cell deathbcl-2 interacting protein Bimbcl-2-related ovarian death agonist | |
| Modification date | 20180527 | |
| UniProtAcc | O43521 | |
| Context | PubMed: BCL2L11 [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 |
| BCL2L11 | GO:0008630 | intrinsic apoptotic signaling pathway in response to DNA damage | 11546872 |
| BCL2L11 | GO:0032464 | positive regulation of protein homooligomerization | 21041309 |
| BCL2L11 | GO:0034976 | response to endoplasmic reticulum stress | 22761832 |
| BCL2L11 | GO:2000271 | positive regulation of fibroblast apoptotic process | 11997495 |
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Exon skipping events across known transcript of Ensembl for BCL2L11 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 BCL2L11 |
| 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 BCL2L11 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_328617 | 2 | 111878505:111878765:111881309:111881446:111907620:111907724 | 111881309:111881446 | ENSG00000153094.17 | ENST00000393253.2 |
| exon_skip_328619 | 2 | 111878505:111878765:111881309:111881716:111907620:111907724 | 111881309:111881716 | ENSG00000153094.17 | ENST00000393256.3,ENST00000357757.2 |
| exon_skip_328623 | 2 | 111881328:111881446:111881626:111881716:111907620:111907724 | 111881626:111881716 | ENSG00000153094.17 | ENST00000308659.8,ENST00000433098.1 |
| exon_skip_328626 | 2 | 111881322:111881446:111887708:111887824:111907620:111907724 | 111887708:111887824 | ENSG00000153094.17 | ENST00000361493.6 |
| exon_skip_328628 | 2 | 111881626:111881716:111899889:111899968:111902064:111902097 | 111899889:111899968 | ENSG00000153094.17 | ENST00000438054.1 |
| exon_skip_328630 | 2 | 111881626:111881716:111902064:111902097:111907620:111907724 | 111902064:111902097 | ENSG00000153094.17 | ENST00000431217.1 |
| exon_skip_328631 | 2 | 111881626:111881716:111907620:111907724:111911356:111911466 | 111907620:111907724 | ENSG00000153094.17 | ENST00000433098.1 |
| exon_skip_328632 | 2 | 111881626:111881716:111907620:111907724:111921709:111921808 | 111907620:111907724 | ENSG00000153094.17 | ENST00000308659.8,ENST00000393256.3 |
| exon_skip_328634 | 2 | 111881626:111881716:111911356:111911481:111921709:111921808 | 111911356:111911481 | ENSG00000153094.17 | ENST00000436733.1,ENST00000415458.1 |
| exon_skip_328636 | 2 | 111907620:111907724:111909398:111909470:111911356:111911466 | 111909398:111909470 | ENSG00000153094.17 | ENST00000439718.1 |
| exon_skip_328639 | 2 | 111907620:111907724:111911356:111911481:111921709:111921808 | 111911356:111911481 | ENSG00000153094.17 | ENST00000433098.1 |
| exon_skip_328640 | 2 | 111907620:111907724:111918995:111919127:111921709:111921808 | 111918995:111919127 | ENSG00000153094.17 | ENST00000431217.1,ENST00000437029.1,ENST00000452231.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for BCL2L11 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_328617 | 2 | 111878505:111878765:111881309:111881446:111907620:111907724 | 111881309:111881446 | ENSG00000153094.17 | ENST00000393253.2 |
| exon_skip_328619 | 2 | 111878505:111878765:111881309:111881716:111907620:111907724 | 111881309:111881716 | ENSG00000153094.17 | ENST00000357757.2,ENST00000393256.3 |
| exon_skip_328623 | 2 | 111881328:111881446:111881626:111881716:111907620:111907724 | 111881626:111881716 | ENSG00000153094.17 | ENST00000308659.8,ENST00000433098.1 |
| exon_skip_328628 | 2 | 111881626:111881716:111899889:111899968:111902064:111902097 | 111899889:111899968 | ENSG00000153094.17 | ENST00000438054.1 |
| exon_skip_328630 | 2 | 111881626:111881716:111902064:111902097:111907620:111907724 | 111902064:111902097 | ENSG00000153094.17 | ENST00000431217.1 |
| exon_skip_328631 | 2 | 111881626:111881716:111907620:111907724:111911356:111911466 | 111907620:111907724 | ENSG00000153094.17 | ENST00000433098.1 |
| exon_skip_328632 | 2 | 111881626:111881716:111907620:111907724:111921709:111921808 | 111907620:111907724 | ENSG00000153094.17 | ENST00000308659.8,ENST00000393256.3 |
| exon_skip_328634 | 2 | 111881626:111881716:111911356:111911481:111921709:111921808 | 111911356:111911481 | ENSG00000153094.17 | ENST00000415458.1,ENST00000436733.1 |
| exon_skip_328639 | 2 | 111907620:111907724:111911356:111911481:111921709:111921808 | 111911356:111911481 | ENSG00000153094.17 | ENST00000433098.1 |
| exon_skip_328640 | 2 | 111907620:111907724:111918995:111919127:111921709:111921808 | 111918995:111919127 | ENSG00000153094.17 | ENST00000437029.1,ENST00000452231.1,ENST00000431217.1 |
| 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 BCL2L11 |
| 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 |
| ENST00000393256 | 111881309 | 111881716 | 5CDS-5UTR |
| ENST00000393256 | 111907620 | 111907724 | Frame-shift |
| 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 |
| ENST00000393256 | 111881309 | 111881716 | 5CDS-5UTR |
| ENST00000393256 | 111907620 | 111907724 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for BCL2L11 |
| 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 |
| 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 |
| 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 |
| 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 |
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SNVs in the skipped exons for BCL2L11 |
| - 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_328617 | 111881310 | 111881446 | 111881417 | 111881417 | Frame_Shift_Del | C | - | p.A32fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_328619 | 111881310 | 111881716 | 111881417 | 111881417 | Frame_Shift_Del | C | - | p.A32fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_328619 | 111881310 | 111881716 | 111881505 | 111881505 | Frame_Shift_Del | G | - | p.Q61fs |
| CESC | TCGA-C5-A2M2-01 | exon_skip_328631 exon_skip_328632 | 111907621 | 111907724 | 111907704 | 111907704 | Frame_Shift_Del | A | - | p.N160fs |
| BLCA | TCGA-YF-AA3M-01 | exon_skip_328631 exon_skip_328632 | 111907621 | 111907724 | 111907666 | 111907666 | Nonsense_Mutation | G | A | p.W147* |
| - 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 |
| BC3C_URINARY_TRACT | 111881310 | 111881716 | 111881332 | 111881332 | Missense_Mutation | C | G | p.Q4E |
| BC3C_URINARY_TRACT | 111881310 | 111881446 | 111881332 | 111881332 | Missense_Mutation | C | G | p.Q4E |
| PFEIFFER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 111881310 | 111881716 | 111881351 | 111881351 | Missense_Mutation | C | G | p.S10C |
| PFEIFFER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 111881310 | 111881446 | 111881351 | 111881351 | Missense_Mutation | C | G | p.S10C |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 111881310 | 111881716 | 111881371 | 111881371 | Missense_Mutation | A | G | p.R17G |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 111881310 | 111881446 | 111881371 | 111881371 | Missense_Mutation | A | G | p.R17G |
| DMS273_LUNG | 111881310 | 111881716 | 111881507 | 111881507 | Missense_Mutation | G | T | p.G62V |
| SNU175_LARGE_INTESTINE | 111881310 | 111881716 | 111881555 | 111881555 | Missense_Mutation | C | T | p.P78L |
| RCCJF_KIDNEY | 111881310 | 111881716 | 111881606 | 111881606 | Missense_Mutation | G | A | p.G95E |
| JHU029_UPPER_AERODIGESTIVE_TRACT | 111881310 | 111881716 | 111881638 | 111881638 | Missense_Mutation | G | C | p.A106P |
| JHU029_UPPER_AERODIGESTIVE_TRACT | 111881627 | 111881716 | 111881638 | 111881638 | Missense_Mutation | G | C | p.A106P |
| HEC6_ENDOMETRIUM | 111907621 | 111907724 | 111907683 | 111907683 | Missense_Mutation | C | T | p.R153W |
| SNUC5_LARGE_INTESTINE | 111907621 | 111907724 | 111907683 | 111907683 | Missense_Mutation | C | T | p.R153W |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 111881310 | 111881716 | 111881362 | 111881362 | Nonsense_Mutation | C | T | p.R14* |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 111881310 | 111881446 | 111881362 | 111881362 | Nonsense_Mutation | C | T | p.R14* |
| LK2_LUNG | 111907621 | 111907724 | 111907666 | 111907666 | Nonsense_Mutation | G | A | p.W147* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BCL2L11 |
| 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 |
| exon_skip_328631 | 2 | 111881626:111881716:111907620:111907724:111911356:111911466 | 111907620:111907724 | ENST00000433098.1 | BRCA | rs724710 | chr2:111907691 | C/T | 2.69e-03 |
| exon_skip_328631 | 2 | 111881626:111881716:111907620:111907724:111911356:111911466 | 111907620:111907724 | ENST00000433098.1 | BRCA | rs724710 | chr2:111907691 | C/T | 2.69e-03 |
| exon_skip_328631 | 2 | 111881626:111881716:111907620:111907724:111911356:111911466 | 111907620:111907724 | ENST00000433098.1 | PRAD | rs724710 | chr2:111907691 | C/T | 2.90e-03 |
| exon_skip_328632 | 2 | 111881626:111881716:111907620:111907724:111921709:111921808 | 111907620:111907724 | ENST00000308659.8,ENST00000393256.3 | BRCA | rs724710 | chr2:111907691 | C/T | 2.69e-03 |
| exon_skip_328632 | 2 | 111881626:111881716:111907620:111907724:111921709:111921808 | 111907620:111907724 | ENST00000308659.8,ENST00000393256.3 | BRCA | rs724710 | chr2:111907691 | C/T | 2.69e-03 |
| exon_skip_328632 | 2 | 111881626:111881716:111907620:111907724:111921709:111921808 | 111907620:111907724 | ENST00000308659.8,ENST00000393256.3 | PRAD | rs724710 | chr2:111907691 | C/T | 2.90e-03 |
| exon_skip_328626 | 2 | 111881322:111881446:111887708:111887824:111907620:111907724 | 111887708:111887824 | ENST00000361493.6 | COAD | rs4849417 | chr2:111887703 | T/A | 3.14e-04 |
| exon_skip_328626 | 2 | 111881322:111881446:111887708:111887824:111907620:111907724 | 111887708:111887824 | ENST00000361493.6 | COAD | rs4849417 | chr2:111887703 | T/A | 3.14e-04 |
| exon_skip_328626 | 2 | 111881322:111881446:111887708:111887824:111907620:111907724 | 111887708:111887824 | ENST00000361493.6 | BRCA | rs4849417 | chr2:111887703 | T/A | 9.41e-06 |
| exon_skip_328626 | 2 | 111881322:111881446:111887708:111887824:111907620:111907724 | 111887708:111887824 | ENST00000361493.6 | BRCA | rs4849417 | chr2:111887703 | T/A | 9.42e-06 |
| exon_skip_328626 | 2 | 111881322:111881446:111887708:111887824:111907620:111907724 | 111887708:111887824 | ENST00000361493.6 | LUAD | rs4849417 | chr2:111887703 | T/A | 2.74e-03 |
| exon_skip_328626 | 2 | 111881322:111881446:111887708:111887824:111907620:111907724 | 111887708:111887824 | ENST00000361493.6 | LUAD | rs4849417 | chr2:111887703 | T/A | 2.75e-03 |
| exon_skip_328626 | 2 | 111881322:111881446:111887708:111887824:111907620:111907724 | 111887708:111887824 | ENST00000361493.6 | LIHC | rs4849417 | chr2:111887703 | T/A | 3.40e-04 |
| exon_skip_328626 | 2 | 111881322:111881446:111887708:111887824:111907620:111907724 | 111887708:111887824 | ENST00000361493.6 | LIHC | rs4849417 | chr2:111887703 | T/A | 3.40e-04 |
| exon_skip_328626 | 2 | 111881322:111881446:111887708:111887824:111907620:111907724 | 111887708:111887824 | ENST00000361493.6 | STAD | rs4849417 | chr2:111887703 | T/A | 4.48e-04 |
| exon_skip_328626 | 2 | 111881322:111881446:111887708:111887824:111907620:111907724 | 111887708:111887824 | ENST00000361493.6 | STAD | rs4849417 | chr2:111887703 | T/A | 4.49e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BCL2L11 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BCL2L11 |
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RelatedDrugs for BCL2L11 |
| 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 BCL2L11 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| BCL2L11 | C0008313 | Cholangitis, Sclerosing | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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