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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 BCL11A |
 Gene summary |
| Gene information | Gene symbol | BCL11A | Gene ID | 53335 |
| Gene name | BAF chromatin remodeling complex subunit BCL11A | |
| Synonyms | BCL11A-L|BCL11A-S|BCL11A-XL|BCL11a-M|CTIP1|DILOS|EVI9|HBFQTL5|ZNF856 | |
| Cytomap | 2p16.1 | |
| Type of gene | protein-coding | |
| Description | B-cell lymphoma/leukemia 11AB cell CLL/lymphoma 11AB-cell CLL/lymphoma 11A (zinc finger protein) isoform 2BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) isoform 1BCL11A, BAF complex componentC2H2-type zinc finger proteinCOUP-TF-interacting pro | |
| Modification date | 20200313 | |
| UniProtAcc | A0A0J9YXG2, A0A0J9YY13, A0A0J9YYJ9, A0A2R8Y2E8, A0A2R8Y7B0, A0A2R8Y7W4, A0A2R8YCR5, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| BCL11A | GO:0000122 | negative regulation of transcription by RNA polymerase II | 19153051 |
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Gene structures and expression levels for BCL11A |
| 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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ENSG00000119866
| 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 |
| PG | DOWN | ENST00000489516.7 | BCL11A-209:protein_coding:BCL11A | 1.660619e+01 | -9.151986e-01 | 2.499191e-03 | 2.795887e-02 |
| CB | DOWN | ENST00000642384.2 | BCL11A-213:protein_coding:BCL11A | 2.740941e+01 | -8.032569e-01 | 6.312615e-05 | 5.011059e-04 |
| CB | DOWN | ENST00000642180.1 | BCL11A-212:protein_coding:BCL11A | 9.178166e-01 | -9.062371e-01 | 1.134095e-02 | 3.855325e-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 BCL11A |
| 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_101442 | chr2 | 60468732:60468833:60508606:60508824:60545971:60546300 | 60508606:60508824 |
| exon_skip_123382 | chr2 | 60452649:60452666:60462282:60462424:60468732:60468833 | 60462282:60462424 |
| exon_skip_123565 | chr2 | 60468732:60468833:60508606:60508824:60545971:60546180 | 60508606:60508824 |
| exon_skip_151020 | chr2 | 60468740:60468833:60478164:60478239:60545971:60546180 | 60478164:60478239 |
| exon_skip_15450 | chr2 | 60462282:60462424:60468732:60468833:60545971:60546300 | 60468732:60468833 |
| exon_skip_163983 | chr2 | 60452649:60452666:60460682:60462424:60468732:60468833 | 60460682:60462424 |
| exon_skip_204520 | chr2 | 60452649:60452666:60460682:60461744:60462282:60462424 | 60460682:60461744 |
| exon_skip_239598 | chr2 | 60462282:60462424:60468732:60468833:60545971:60546180 | 60468732:60468833 |
| exon_skip_34253 | chr2 | 60452649:60452666:60460530:60462424:60545971:60546180 | 60460530:60462424 |
| exon_skip_4307 | chr2 | 60468732:60468833:60478164:60478239:60545971:60546201 | 60478164:60478239 |
| exon_skip_84802 | chr2 | 60452649:60452666:60462282:60462424:60545971:60546180 | 60462282:60462424 |
| 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 BCL11A |
| 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 |
| ENST00000642384 | 60468732 | 60468833 | 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 |
| ENST00000642384 | 60468732 | 60468833 | 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 |
| ENST00000642384 | 60468732 | 60468833 | In-frame |
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Infer the effects of exon skipping event on protein functional features for BCL11A |
p-ENSG00000119866_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 |
| ENST00000642384 | 7621 | 835 | 60468732 | 60468833 | 2270 | 2370 | 128 | 162 |
| 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 |
| ENST00000642384 | 7621 | 835 | 60468732 | 60468833 | 2270 | 2370 | 128 | 162 |
| 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 |
| ENST00000642384 | 7621 | 835 | 60468732 | 60468833 | 2270 | 2370 | 128 | 162 |
| 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 |
| Q9H165 | 128 | 162 | 129 | 163 | Alternative sequence | ID=VSP_009548;Note=In isoform 6. DKLLHWRGLSSPRSAHGALIPTPGMSAEYAPQGIC->G;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q9H165 | 128 | 162 | 129 | 142 | Alternative sequence | ID=VSP_058656;Note=In isoform 7. DKLLHWRGLSSPRS->AQTELEDVFVYLMV |
| Q9H165 | 128 | 162 | 143 | 835 | Alternative sequence | ID=VSP_058657;Note=In isoform 7. Missing |
| Q9H165 | 128 | 162 | 1 | 835 | Chain | ID=PRO_0000047102;Note=B-cell lymphoma/leukemia 11A |
| Q9H165 | 128 | 162 | 142 | 142 | Natural variant | ID=VAR_035553;Note=In a breast cancer sample%3B somatic mutation. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 |
| Q9H165 | 128 | 162 | 1 | 210 | Region | Note=Required for nuclear body formation and for SUMO1 recruitment;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| 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 |
| Q9H165 | 128 | 162 | 129 | 163 | Alternative sequence | ID=VSP_009548;Note=In isoform 6. DKLLHWRGLSSPRSAHGALIPTPGMSAEYAPQGIC->G;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q9H165 | 128 | 162 | 129 | 142 | Alternative sequence | ID=VSP_058656;Note=In isoform 7. DKLLHWRGLSSPRS->AQTELEDVFVYLMV |
| Q9H165 | 128 | 162 | 143 | 835 | Alternative sequence | ID=VSP_058657;Note=In isoform 7. Missing |
| Q9H165 | 128 | 162 | 1 | 835 | Chain | ID=PRO_0000047102;Note=B-cell lymphoma/leukemia 11A |
| Q9H165 | 128 | 162 | 142 | 142 | Natural variant | ID=VAR_035553;Note=In a breast cancer sample%3B somatic mutation. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 |
| Q9H165 | 128 | 162 | 1 | 210 | Region | Note=Required for nuclear body formation and for SUMO1 recruitment;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| 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 |
| Q9H165 | 128 | 162 | 129 | 163 | Alternative sequence | ID=VSP_009548;Note=In isoform 6. DKLLHWRGLSSPRSAHGALIPTPGMSAEYAPQGIC->G;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q9H165 | 128 | 162 | 129 | 142 | Alternative sequence | ID=VSP_058656;Note=In isoform 7. DKLLHWRGLSSPRS->AQTELEDVFVYLMV |
| Q9H165 | 128 | 162 | 143 | 835 | Alternative sequence | ID=VSP_058657;Note=In isoform 7. Missing |
| Q9H165 | 128 | 162 | 1 | 835 | Chain | ID=PRO_0000047102;Note=B-cell lymphoma/leukemia 11A |
| Q9H165 | 128 | 162 | 142 | 142 | Natural variant | ID=VAR_035553;Note=In a breast cancer sample%3B somatic mutation. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 |
| Q9H165 | 128 | 162 | 1 | 210 | Region | Note=Required for nuclear body formation and for SUMO1 recruitment;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
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3'-UTR located exon skipping events that lost miRNA binding sites in BCL11A |
| 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 BCL11A |
| - 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 BCL11A |
| 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 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BCL11A |
| 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 BCL11A |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for BCL11A |
| 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 BCL11A |
| 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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