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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 BCORL1 |
Gene summary |
Gene information | Gene symbol | BCORL1 | Gene ID | 63035 |
Gene name | BCL6 corepressor like 1 | |
Synonyms | BCoR-L1|CXorf10|SHUVER | |
Cytomap | Xq26.1 | |
Type of gene | protein-coding | |
Description | BCL-6 corepressor-like protein 1BCoR-like protein 1 | |
Modification date | 20200313 | |
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 |
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Gene structures and expression levels for BCORL1 |
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 |
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 BCORL1 |
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_195588 | chrX | 130005188:130005317:130012578:130012668:130012950:130013178 | 130012578:130012668 |
exon_skip_251904 | chrX | 130028635:130028861:130034455:130034676:130037367:130037533 | 130034455:130034676 |
exon_skip_56149 | chrX | 130005188:130005317:130010508:130010663:130012578:130012668 | 130010508:130010663 |
exon_skip_70663 | chrX | 130022897:130022977:130024990:130025379:130028635:130028861 | 130024990:130025379 |
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 BCORL1 |
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 |
ENST00000218147 | 130012578 | 130012668 | Frame-shift |
ENST00000540052 | 130012578 | 130012668 | Frame-shift |
ENST00000218147 | 130024990 | 130025379 | In-frame |
ENST00000540052 | 130024990 | 130025379 | 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 |
ENST00000218147 | 130024990 | 130025379 | In-frame |
ENST00000540052 | 130024990 | 130025379 | 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 |
ENST00000218147 | 130012578 | 130012668 | Frame-shift |
ENST00000540052 | 130012578 | 130012668 | Frame-shift |
ENST00000218147 | 130024990 | 130025379 | In-frame |
ENST00000540052 | 130024990 | 130025379 | In-frame |
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Infer the effects of exon skipping event on protein functional features for BCORL1 |
p-ENSG00000085185_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 |
ENST00000218147 | 6877 | 1711 | 130024990 | 130025379 | 3887 | 4275 | 1230 | 1359 |
ENST00000540052 | 7144 | 1711 | 130024990 | 130025379 | 3734 | 4122 | 1230 | 1359 |
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 |
ENST00000218147 | 6877 | 1711 | 130024990 | 130025379 | 3887 | 4275 | 1230 | 1359 |
ENST00000540052 | 7144 | 1711 | 130024990 | 130025379 | 3734 | 4122 | 1230 | 1359 |
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 |
ENST00000218147 | 6877 | 1711 | 130024990 | 130025379 | 3887 | 4275 | 1230 | 1359 |
ENST00000540052 | 7144 | 1711 | 130024990 | 130025379 | 3734 | 4122 | 1230 | 1359 |
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 |
Q5H9F3 | 1230 | 1359 | 1230 | 1359 | Alternative sequence | ID=VSP_029778;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|Ref.3;Dbxref=PMID:14702039 |
Q5H9F3 | 1230 | 1359 | 1230 | 1359 | Alternative sequence | ID=VSP_029778;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|Ref.3;Dbxref=PMID:14702039 |
Q5H9F3 | 1230 | 1359 | 1 | 1711 | Chain | ID=PRO_0000312268;Note=BCL-6 corepressor-like protein 1 |
Q5H9F3 | 1230 | 1359 | 1 | 1711 | Chain | ID=PRO_0000312268;Note=BCL-6 corepressor-like protein 1 |
Q5H9F3 | 1230 | 1359 | 1328 | 1336 | Motif | Note=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q5H9F3 | 1230 | 1359 | 1328 | 1336 | Motif | Note=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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 |
Q5H9F3 | 1230 | 1359 | 1230 | 1359 | Alternative sequence | ID=VSP_029778;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|Ref.3;Dbxref=PMID:14702039 |
Q5H9F3 | 1230 | 1359 | 1230 | 1359 | Alternative sequence | ID=VSP_029778;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|Ref.3;Dbxref=PMID:14702039 |
Q5H9F3 | 1230 | 1359 | 1 | 1711 | Chain | ID=PRO_0000312268;Note=BCL-6 corepressor-like protein 1 |
Q5H9F3 | 1230 | 1359 | 1 | 1711 | Chain | ID=PRO_0000312268;Note=BCL-6 corepressor-like protein 1 |
Q5H9F3 | 1230 | 1359 | 1328 | 1336 | Motif | Note=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q5H9F3 | 1230 | 1359 | 1328 | 1336 | Motif | Note=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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 |
Q5H9F3 | 1230 | 1359 | 1230 | 1359 | Alternative sequence | ID=VSP_029778;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|Ref.3;Dbxref=PMID:14702039 |
Q5H9F3 | 1230 | 1359 | 1230 | 1359 | Alternative sequence | ID=VSP_029778;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|Ref.3;Dbxref=PMID:14702039 |
Q5H9F3 | 1230 | 1359 | 1 | 1711 | Chain | ID=PRO_0000312268;Note=BCL-6 corepressor-like protein 1 |
Q5H9F3 | 1230 | 1359 | 1 | 1711 | Chain | ID=PRO_0000312268;Note=BCL-6 corepressor-like protein 1 |
Q5H9F3 | 1230 | 1359 | 1328 | 1336 | Motif | Note=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q5H9F3 | 1230 | 1359 | 1328 | 1336 | Motif | Note=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in BCORL1 |
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 BCORL1 |
- 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 BCORL1 |
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 BCORL1 |
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 BCORL1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | TRA2A | exon_skip_56149 | -4.407028e-01 | 3.621690e-08 |
CB | RBM3 | exon_skip_70663 | -4.542499e-01 | 4.672302e-09 |
CB | PCBP4 | exon_skip_70663 | -5.039792e-01 | 4.201314e-11 |
CB | RBM45 | exon_skip_70663 | -5.310812e-01 | 2.299105e-12 |
HCC | RBM3 | exon_skip_70663 | -4.207508e-01 | 5.658328e-12 |
TC | SAMD4A | exon_skip_70663 | 4.073276e-01 | 2.006876e-06 |
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RelatedDrugs for BCORL1 |
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 BCORL1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |