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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 BCL11B |
 Gene summary |
| Gene information | Gene symbol | BCL11B | Gene ID | 64919 |
| Gene name | B cell CLL/lymphoma 11B | |
| Synonyms | ATL1|ATL1-alpha|ATL1-beta|ATL1-delta|ATL1-gamma|CTIP-2|CTIP2|IMD49|RIT1|ZNF856B|hRIT1-alpha | |
| Cytomap | 14q32.2 | |
| Type of gene | protein-coding | |
| Description | B-cell lymphoma/leukemia 11BB-cell CLL/lymphoma 11B (zinc finger protein)B-cell CLL/lymphoma 11B/T-cell receptor delta constant region fusion proteinB-cell lymphoma/leukaemia 11BBCL-11BBCL11B/TRDC fusionCOUP-TF-interacting protein 2hRit1radiation- | |
| Modification date | 20180523 | |
| UniProtAcc | Q9C0K0 | |
| Context | PubMed: BCL11B [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 |
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Exon skipping events across known transcript of Ensembl for BCL11B 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 BCL11B |
| 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 BCL11B |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_115676 | 14 | 99640297:99642532:99697681:99697894:99723807:99724173 | 99697681:99697894 | ENSG00000127152.13 | ENST00000357195.3 |
| exon_skip_115679 | 14 | 99640297:99642532:99723807:99724176:99737497:99737565 | 99723807:99724176 | ENSG00000127152.13 | ENST00000345514.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for BCL11B |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_115676 | 14 | 99640297:99642532:99697681:99697894:99723807:99724173 | 99697681:99697894 | ENSG00000127152.13 | ENST00000357195.3 |
| exon_skip_115679 | 14 | 99640297:99642532:99723807:99724176:99737497:99737565 | 99723807:99724176 | ENSG00000127152.13 | ENST00000345514.2 |
| 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 BCL11B |
| 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 |
| ENST00000357195 | 99697681 | 99697894 | 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 |
| ENST00000357195 | 99697681 | 99697894 | In-frame |
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Infer the effects of exon skipping event on protein functional features for BCL11B |
| 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 |
| ENST00000357195 | 7576 | 894 | 99697681 | 99697894 | 438 | 650 | 142 | 213 |
| 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 |
| ENST00000357195 | 7576 | 894 | 99697681 | 99697894 | 438 | 650 | 142 | 213 |
| 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 |
| Q9C0K0 | 142 | 213 | 143 | 213 | Alternative sequence | ID=VSP_009565;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11719382;Dbxref=PMID:11719382 |
| Q9C0K0 | 142 | 213 | 1 | 894 | Chain | ID=PRO_0000047104;Note=B-cell lymphoma/leukemia 11B |
| 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 |
| Q9C0K0 | 142 | 213 | 143 | 213 | Alternative sequence | ID=VSP_009565;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11719382;Dbxref=PMID:11719382 |
| Q9C0K0 | 142 | 213 | 1 | 894 | Chain | ID=PRO_0000047104;Note=B-cell lymphoma/leukemia 11B |
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SNVs in the skipped exons for BCL11B |
| - 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 |
| ACC | TCGA-PK-A5HB-01 | exon_skip_115676 | 99697682 | 99697894 | 99697775 | 99697775 | Frame_Shift_Del | G | - | p.L183fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_115676 | 99697682 | 99697894 | 99697775 | 99697775 | Frame_Shift_Del | G | - | p.L183fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_115676 | 99697682 | 99697894 | 99697837 | 99697837 | Frame_Shift_Del | G | - | p.P162fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_115676 | 99697682 | 99697894 | 99697877 | 99697877 | Frame_Shift_Del | G | - | p.Q149fs |
| LIHC | TCGA-BC-A10S-01 | exon_skip_115679 | 99723808 | 99724176 | 99723903 | 99723904 | Frame_Shift_Ins | - | C | p.A111fs |
| - 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 |
| KM12_LARGE_INTESTINE | 99697682 | 99697894 | 99697775 | 99697775 | Frame_Shift_Del | G | - | p.L183fs |
| SNU324_PANCREAS | 99697682 | 99697894 | 99697685 | 99697685 | Missense_Mutation | A | C | p.S213A |
| COLO792_SKIN | 99697682 | 99697894 | 99697703 | 99697703 | Missense_Mutation | C | T | p.G207R |
| HCC2450_LUNG | 99697682 | 99697894 | 99697709 | 99697709 | Missense_Mutation | G | A | p.P205S |
| CW2_LARGE_INTESTINE | 99697682 | 99697894 | 99697712 | 99697712 | Missense_Mutation | C | T | p.A204T |
| PACADD161_PANCREAS | 99697682 | 99697894 | 99697760 | 99697760 | Missense_Mutation | C | T | p.A188T |
| GP2D_LARGE_INTESTINE | 99697682 | 99697894 | 99697798 | 99697798 | Missense_Mutation | C | T | p.G175D |
| GP5D_LARGE_INTESTINE | 99697682 | 99697894 | 99697798 | 99697798 | Missense_Mutation | C | T | p.G175D |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 99697682 | 99697894 | 99697853 | 99697853 | Missense_Mutation | C | T | p.A157T |
| PACADD137_PANCREAS | 99697682 | 99697894 | 99697868 | 99697868 | Missense_Mutation | C | T | p.A152T |
| SCC15_UPPER_AERODIGESTIVE_TRACT | 99723808 | 99724176 | 99723904 | 99723904 | Missense_Mutation | C | T | p.E111K |
| MEG01_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 99723808 | 99724176 | 99723945 | 99723945 | Missense_Mutation | C | A | p.S97I |
| IMR5_AUTONOMIC_GANGLIA | 99723808 | 99724176 | 99723958 | 99723958 | Missense_Mutation | G | T | p.L93M |
| IMR32_AUTONOMIC_GANGLIA | 99723808 | 99724176 | 99723958 | 99723958 | Missense_Mutation | G | T | p.L93M |
| GP2D_LARGE_INTESTINE | 99723808 | 99724176 | 99723987 | 99723987 | Missense_Mutation | C | T | p.G83D |
| NCIH2023_LUNG | 99723808 | 99724176 | 99724012 | 99724012 | Missense_Mutation | C | G | p.E75Q |
| D542MG_CENTRAL_NERVOUS_SYSTEM | 99723808 | 99724176 | 99724038 | 99724038 | Missense_Mutation | G | T | p.P66H |
| HEC59_ENDOMETRIUM | 99723808 | 99724176 | 99724086 | 99724086 | Missense_Mutation | C | T | p.G50D |
| HCC15_LUNG | 99697682 | 99697894 | 99697767 | 99697767 | Nonsense_Mutation | G | T | p.C185* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BCL11B |
| 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 BCL11B |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BCL11B |
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RelatedDrugs for BCL11B |
| 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 BCL11B |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| BCL11B | C0024299 | Lymphoma | 1 | CTD_human |
| BCL11B | C1961099 | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 1 | CTD_human |
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