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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 BCR |
 Gene summary |
| Gene information | Gene symbol | BCR | Gene ID | 613 |
| Gene name | BCR activator of RhoGEF and GTPase | |
| Synonyms | ALL|BCR1|CML|D22S11|D22S662|PHL | |
| Cytomap | 22q11.23 | |
| Type of gene | protein-coding | |
| Description | breakpoint cluster region proteinBCR, RhoGEF and GTPase activating proteinBCR/FGFR1 chimera proteinFGFR1/BCR chimera proteinbreakpoint cluster regionrenal carcinoma antigen NY-REN-26 | |
| Modification date | 20200313 | |
| UniProtAcc | A0A024R1B9, A0A173G4P0, A0A173G4P4, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| BCR | GO:0090630 | activation of GTPase activity | 7479768 |
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Gene structures and expression levels for BCR |
| 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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ENSG00000186716
| 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 |
| PCC | UP | ENST00000436990.2 | BCR-205:lncRNA:BCR | 7.401702e+01 | 1.116684e+00 | 2.603803e-08 | 2.140464e-05 |
| CB | DOWN | ENST00000475025.5 | BCR-210:lncRNA:BCR | 4.440226e+01 | -1.040850e+00 | 1.274795e-04 | 9.101236e-04 |
| TC | DOWN | ENST00000436990.2 | BCR-205:lncRNA:BCR | 2.411779e+02 | -1.976703e+00 | 1.341952e-16 | 1.619242e-13 |
| 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 BCR |
| 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_109429 | chr22 | 23312895:23313021:23313968:23314073:23314552:23314695 | 23313968:23314073 |
| exon_skip_112843 | chr22 | 23295041:23295155:23309424:23309483:23310324:23310433 | 23309424:23309483 |
| exon_skip_12346 | chr22 | 23273634:23273774:23283977:23284098:23285033:23285114 | 23283977:23284098 |
| exon_skip_141506 | chr22 | 23290339:23290413:23292541:23292638:23295024:23295155 | 23292541:23292638 |
| exon_skip_167948 | chr22 | 23313968:23314073:23314552:23314714:23315433:23315950 | 23314552:23314714 |
| exon_skip_180060 | chr22 | 23289615:23289621:23290339:23290413:23292541:23292638 | 23290339:23290413 |
| exon_skip_190745 | chr22 | 23312887:23313021:23313968:23314073:23314552:23314695 | 23313968:23314073 |
| exon_skip_210098 | chr22 | 23309424:23309483:23310324:23310433:23311697:23311836 | 23310324:23310433 |
| exon_skip_222092 | chr22 | 23313977:23314073:23314552:23314714:23315433:23315950 | 23314552:23314714 |
| exon_skip_236592 | chr22 | 23313968:23314073:23314552:23314714:23315433:23315716 | 23314552:23314714 |
| exon_skip_251427 | chr22 | 23285033:23285201:23287159:23287278:23288097:23288172 | 23287159:23287278 |
| exon_skip_252310 | chr22 | 23253960:23253980:23260950:23261054:23261355:23261393 | 23260950:23261054 |
| exon_skip_253544 | chr22 | 23285084:23285201:23287159:23287278:23288097:23288172 | 23287159:23287278 |
| exon_skip_264258 | chr22 | 23273081:23273133:23273634:23273774:23283977:23284098 | 23273634:23273774 |
| exon_skip_45116 | chr22 | 23261355:23261540:23268408:23268515:23271532:23271592 | 23268408:23268515 |
| exon_skip_71231 | chr22 | 23306154:23306249:23307568:23307764:23309424:23309483 | 23307568:23307764 |
| exon_skip_77280 | chr22 | 23292541:23292638:23295024:23295155:23309424:23309483 | 23295024:23295155 |
| exon_skip_78915 | chr22 | 23312966:23313021:23313968:23314073:23314552:23314695 | 23313968:23314073 |
| exon_skip_8857 | chr22 | 23313968:23314073:23314552:23314714:23315433:23315450 | 23314552:23314714 |
| 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 BCR |
| 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 |
| ENST00000305877 | 23283977 | 23284098 | Frame-shift |
| ENST00000305877 | 23310324 | 23310433 | Frame-shift |
| ENST00000305877 | 23313968 | 23314073 | Frame-shift |
| ENST00000305877 | 23314552 | 23314714 | Frame-shift |
| ENST00000305877 | 23260950 | 23261054 | In-frame |
| ENST00000305877 | 23268408 | 23268515 | In-frame |
| ENST00000305877 | 23273634 | 23273774 | In-frame |
| ENST00000305877 | 23287159 | 23287278 | In-frame |
| ENST00000305877 | 23290339 | 23290413 | In-frame |
| ENST00000305877 | 23295024 | 23295155 | 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 |
| ENST00000305877 | 23310324 | 23310433 | Frame-shift |
| ENST00000305877 | 23295024 | 23295155 | 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 |
| ENST00000305877 | 23283977 | 23284098 | Frame-shift |
| ENST00000305877 | 23292541 | 23292638 | Frame-shift |
| ENST00000305877 | 23310324 | 23310433 | Frame-shift |
| ENST00000305877 | 23313968 | 23314073 | Frame-shift |
| ENST00000305877 | 23314552 | 23314714 | Frame-shift |
| ENST00000305877 | 23260950 | 23261054 | In-frame |
| ENST00000305877 | 23273634 | 23273774 | In-frame |
| ENST00000305877 | 23287159 | 23287278 | In-frame |
| ENST00000305877 | 23290339 | 23290413 | In-frame |
| ENST00000305877 | 23295024 | 23295155 | In-frame |
| ENST00000305877 | 23309424 | 23309483 | In-frame |
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Infer the effects of exon skipping event on protein functional features for BCR |
p-ENSG00000186716_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 |
| ENST00000305877 | 7099 | 1271 | 23260950 | 23261054 | 2214 | 2317 | 487 | 522 |
| ENST00000305877 | 7099 | 1271 | 23268408 | 23268515 | 2505 | 2611 | 584 | 620 |
| ENST00000305877 | 7099 | 1271 | 23273634 | 23273774 | 2727 | 2866 | 658 | 705 |
| ENST00000305877 | 7099 | 1271 | 23287159 | 23287278 | 3159 | 3277 | 802 | 842 |
| ENST00000305877 | 7099 | 1271 | 23290339 | 23290413 | 3460 | 3533 | 903 | 927 |
| ENST00000305877 | 7099 | 1271 | 23295024 | 23295155 | 3633 | 3763 | 960 | 1004 |
| 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 |
| ENST00000305877 | 7099 | 1271 | 23295024 | 23295155 | 3633 | 3763 | 960 | 1004 |
| 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 |
| ENST00000305877 | 7099 | 1271 | 23260950 | 23261054 | 2214 | 2317 | 487 | 522 |
| ENST00000305877 | 7099 | 1271 | 23273634 | 23273774 | 2727 | 2866 | 658 | 705 |
| ENST00000305877 | 7099 | 1271 | 23287159 | 23287278 | 3159 | 3277 | 802 | 842 |
| ENST00000305877 | 7099 | 1271 | 23290339 | 23290413 | 3460 | 3533 | 903 | 927 |
| ENST00000305877 | 7099 | 1271 | 23295024 | 23295155 | 3633 | 3763 | 960 | 1004 |
| ENST00000305877 | 7099 | 1271 | 23309424 | 23309483 | 3765 | 3823 | 1004 | 1024 |
| 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 |
| P11274 | 487 | 522 | 1 | 1271 | Chain | ID=PRO_0000080933;Note=Breakpoint cluster region protein |
| P11274 | 487 | 522 | 498 | 691 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
| P11274 | 487 | 522 | 492 | 521 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5N7E |
| P11274 | 487 | 522 | 488 | 488 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| P11274 | 584 | 620 | 1 | 1271 | Chain | ID=PRO_0000080933;Note=Breakpoint cluster region protein |
| P11274 | 584 | 620 | 498 | 691 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
| P11274 | 584 | 620 | 578 | 586 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5N7E |
| P11274 | 584 | 620 | 588 | 611 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5N7E |
| P11274 | 584 | 620 | 613 | 618 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5N7E |
| P11274 | 658 | 705 | 694 | 697 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5N6R |
| P11274 | 658 | 705 | 1 | 1271 | Chain | ID=PRO_0000080933;Note=Breakpoint cluster region protein |
| P11274 | 658 | 705 | 498 | 691 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
| P11274 | 658 | 705 | 653 | 661 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5N7E |
| P11274 | 658 | 705 | 670 | 687 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5N7E |
| P11274 | 658 | 705 | 693 | 693 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| P11274 | 658 | 705 | 690 | 690 | Sequence conflict | Note=E->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P11274 | 802 | 842 | 830 | 838 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5OC7 |
| P11274 | 802 | 842 | 1 | 1271 | Chain | ID=PRO_0000080933;Note=Breakpoint cluster region protein |
| P11274 | 802 | 842 | 824 | 827 | Compositional bias | Note=Poly-Leu |
| P11274 | 802 | 842 | 708 | 866 | Domain | Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| P11274 | 903 | 927 | 1 | 1271 | Chain | ID=PRO_0000080933;Note=Breakpoint cluster region protein |
| P11274 | 903 | 927 | 870 | 1002 | Domain | Note=C2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| P11274 | 903 | 927 | 910 | 910 | Natural variant | ID=VAR_041886;Note=Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs35537221,PMID:17344846 |
| P11274 | 960 | 1004 | 961 | 1004 | Alternative sequence | ID=VSP_024352;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:3285291;Dbxref=PMID:3285291 |
| P11274 | 960 | 1004 | 1 | 1271 | Chain | ID=PRO_0000080933;Note=Breakpoint cluster region protein |
| P11274 | 960 | 1004 | 870 | 1002 | Domain | Note=C2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| 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 |
| P11274 | 960 | 1004 | 961 | 1004 | Alternative sequence | ID=VSP_024352;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:3285291;Dbxref=PMID:3285291 |
| P11274 | 960 | 1004 | 1 | 1271 | Chain | ID=PRO_0000080933;Note=Breakpoint cluster region protein |
| P11274 | 960 | 1004 | 870 | 1002 | Domain | Note=C2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| 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 |
| P11274 | 487 | 522 | 1 | 1271 | Chain | ID=PRO_0000080933;Note=Breakpoint cluster region protein |
| P11274 | 487 | 522 | 498 | 691 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
| P11274 | 487 | 522 | 492 | 521 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5N7E |
| P11274 | 487 | 522 | 488 | 488 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| P11274 | 658 | 705 | 694 | 697 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5N6R |
| P11274 | 658 | 705 | 1 | 1271 | Chain | ID=PRO_0000080933;Note=Breakpoint cluster region protein |
| P11274 | 658 | 705 | 498 | 691 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
| P11274 | 658 | 705 | 653 | 661 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5N7E |
| P11274 | 658 | 705 | 670 | 687 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5N7E |
| P11274 | 658 | 705 | 693 | 693 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| P11274 | 658 | 705 | 690 | 690 | Sequence conflict | Note=E->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P11274 | 802 | 842 | 830 | 838 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5OC7 |
| P11274 | 802 | 842 | 1 | 1271 | Chain | ID=PRO_0000080933;Note=Breakpoint cluster region protein |
| P11274 | 802 | 842 | 824 | 827 | Compositional bias | Note=Poly-Leu |
| P11274 | 802 | 842 | 708 | 866 | Domain | Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| P11274 | 903 | 927 | 1 | 1271 | Chain | ID=PRO_0000080933;Note=Breakpoint cluster region protein |
| P11274 | 903 | 927 | 870 | 1002 | Domain | Note=C2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| P11274 | 903 | 927 | 910 | 910 | Natural variant | ID=VAR_041886;Note=Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs35537221,PMID:17344846 |
| P11274 | 960 | 1004 | 961 | 1004 | Alternative sequence | ID=VSP_024352;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:3285291;Dbxref=PMID:3285291 |
| P11274 | 960 | 1004 | 1 | 1271 | Chain | ID=PRO_0000080933;Note=Breakpoint cluster region protein |
| P11274 | 960 | 1004 | 870 | 1002 | Domain | Note=C2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| P11274 | 1004 | 1024 | 961 | 1004 | Alternative sequence | ID=VSP_024352;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:3285291;Dbxref=PMID:3285291 |
| P11274 | 1004 | 1024 | 1 | 1271 | Chain | ID=PRO_0000080933;Note=Breakpoint cluster region protein |
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3'-UTR located exon skipping events that lost miRNA binding sites in BCR |
| 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 BCR |
| - 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 BCR |
| 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 BCR |
| 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 BCR |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for BCR |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P11274 | approved|investigational | DB01254 | Dasatinib | small molecule | P11274 |
| P11274 | approved | DB06616 | Bosutinib | small molecule | P11274 |
| P11274 | approved|investigational | DB08901 | Ponatinib | small molecule | P11274 |
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RelatedDiseases for BCR |
| 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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