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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for BCOR |
Gene summary |
Gene information | Gene symbol | BCOR | Gene ID | 54880 |
Gene name | BCL6 corepressor | |
Synonyms | ANOP2|MAA2|MCOPS2 | |
Cytomap | Xp11.4 | |
Type of gene | protein-coding | |
Description | BCL-6 corepressorBCL-6 coreceptorBCL-6 interacting corepressorBCL6 interacting corepressor | |
Modification date | 20200328 | |
UniProtAcc | ||
Context |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
BCOR | GO:0035518 | histone H2A monoubiquitination | 16943429 |
BCOR | GO:0045892 | negative regulation of transcription, DNA-templated | 10898795 |
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Gene structures and expression levels for BCOR |
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. |
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. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
CB | DOWN | ENST00000442018.5 | BCOR-210:protein_coding:BCOR | 1.482822e+02 | -9.845639e-01 | 2.758102e-06 | 3.552275e-05 |
CB | DOWN | ENST00000672265.1 | BCOR-213:retained_intron:BCOR | 3.403645e+01 | -1.041532e+00 | 1.418245e-05 | 1.415392e-04 |
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 BCOR |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_152543 | chrX | 40070973:40071159:40071637:40071690:40072349:40073756 | 40071637:40071690 |
exon_skip_209987 | chrX | 40052219:40052400:40053838:40054042:40054256:40054333 | 40053838:40054042 |
exon_skip_8060 | chrX | 40052219:40052400:40053886:40054042:40054256:40054333 | 40053886:40054042 |
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 |
exon_skip_152543 | Mayo_CB | 4.156579e-01 | 5.547273e-01 | -1.390694e-01 | 4.261247e-06 |
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Open reading frame (ORF) annotation in the exon skipping event for BCOR |
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 |
ENST00000378444 | 40071637 | 40071690 | 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 |
ENST00000378444 | 40071637 | 40071690 | 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 |
ENST00000378444 | 40053886 | 40054042 | Frame-shift |
ENST00000378444 | 40071637 | 40071690 | In-frame |
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Infer the effects of exon skipping event on protein functional features for BCOR |
p-ENSG00000183337_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 |
ENST00000378444 | 6375 | 1755 | 40071637 | 40071690 | 3227 | 3279 | 999 | 1016 |
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 |
ENST00000378444 | 6375 | 1755 | 40071637 | 40071690 | 3227 | 3279 | 999 | 1016 |
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 |
ENST00000378444 | 6375 | 1755 | 40071637 | 40071690 | 3227 | 3279 | 999 | 1016 |
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 |
Q6W2J9 | 999 | 1016 | 1000 | 1017 | Alternative sequence | ID=VSP_012555;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
Q6W2J9 | 999 | 1016 | 1000 | 1004 | Alternative sequence | ID=VSP_012554;Note=In isoform 3. MEGLQ->VSPPT;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10898795,ECO:0000303|PubMed:10997877;Dbxref=PMID:10898795,PMID:10997877 |
Q6W2J9 | 999 | 1016 | 1005 | 1755 | Alternative sequence | ID=VSP_012556;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10898795,ECO:0000303|PubMed:10997877;Dbxref=PMID:10898795,PMID:10997877 |
Q6W2J9 | 999 | 1016 | 1 | 1755 | Chain | ID=PRO_0000066978;Note=BCL-6 corepressor |
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 |
Q6W2J9 | 999 | 1016 | 1000 | 1017 | Alternative sequence | ID=VSP_012555;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
Q6W2J9 | 999 | 1016 | 1000 | 1004 | Alternative sequence | ID=VSP_012554;Note=In isoform 3. MEGLQ->VSPPT;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10898795,ECO:0000303|PubMed:10997877;Dbxref=PMID:10898795,PMID:10997877 |
Q6W2J9 | 999 | 1016 | 1005 | 1755 | Alternative sequence | ID=VSP_012556;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10898795,ECO:0000303|PubMed:10997877;Dbxref=PMID:10898795,PMID:10997877 |
Q6W2J9 | 999 | 1016 | 1 | 1755 | Chain | ID=PRO_0000066978;Note=BCL-6 corepressor |
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 |
Q6W2J9 | 999 | 1016 | 1000 | 1017 | Alternative sequence | ID=VSP_012555;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
Q6W2J9 | 999 | 1016 | 1000 | 1004 | Alternative sequence | ID=VSP_012554;Note=In isoform 3. MEGLQ->VSPPT;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10898795,ECO:0000303|PubMed:10997877;Dbxref=PMID:10898795,PMID:10997877 |
Q6W2J9 | 999 | 1016 | 1005 | 1755 | Alternative sequence | ID=VSP_012556;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10898795,ECO:0000303|PubMed:10997877;Dbxref=PMID:10898795,PMID:10997877 |
Q6W2J9 | 999 | 1016 | 1 | 1755 | Chain | ID=PRO_0000066978;Note=BCL-6 corepressor |
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3'-UTR located exon skipping events that lost miRNA binding sites in BCOR |
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 BCOR |
- 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 BCOR |
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 BCOR |
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 BCOR |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | TIA1 | exon_skip_152543 | 5.584670e-01 | 4.177254e-12 |
CB | FUBP1 | exon_skip_152543 | -4.291795e-01 | 3.139474e-07 |
HCC | G3BP2 | exon_skip_152543 | 4.600882e-01 | 1.322004e-14 |
PCC | G3BP2 | exon_skip_152543 | 6.252035e-01 | 2.397067e-21 |
PCC | RALYL | exon_skip_152543 | 4.735030e-01 | 1.135373e-11 |
TC | TIA1 | exon_skip_152543 | 4.052654e-01 | 1.189312e-06 |
TC | G3BP2 | exon_skip_152543 | 5.945960e-01 | 3.601020e-14 |
TC | RALYL | exon_skip_152543 | 5.476594e-01 | 7.487898e-12 |
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RelatedDrugs for BCOR |
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 BCOR |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |