|
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 BCL9L |
Gene summary |
Gene information | Gene symbol | BCL9L | Gene ID | 283149 |
Gene name | BCL9 like | |
Synonyms | B9L|BCL9-2|DLNB11 | |
Cytomap | 11q23.3 | |
Type of gene | protein-coding | |
Description | B-cell CLL/lymphoma 9-like proteinB cell CLL/lymphoma 9 likeB-cell lymphoma 9-like proteinBCL9-like proteinnuclear co-factor of beta-catenin signallingprotein BCL9-2 | |
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 |
Top |
Gene structures and expression levels for BCL9L |
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. |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for BCL9L |
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_110190 | chr11 | 118908417:118908655:118909914:118910015:118918826:118918879 | 118909914:118910015 |
exon_skip_121539 | chr11 | 118909914:118910015:118918826:118918879:118925238:118925453 | 118918826:118918879 |
exon_skip_175481 | chr11 | 118897746:118899508:118899917:118900198:118900619:118900761 | 118899917:118900198 |
exon_skip_27582 | chr11 | 118902774:118902908:118902990:118903074:118903236:118903452 | 118902990:118903074 |
exon_skip_296118 | chr11 | 118907483:118907602:118908270:118908655:118925238:118925453 | 118908270:118908655 |
exon_skip_40108 | chr11 | 118902990:118903074:118903236:118903452:118907483:118907602 | 118903236:118903452 |
exon_skip_90037 | chr11 | 118902774:118902908:118902990:118903074:118907483:118907602 | 118902990:118903074 |
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 |
Top |
Open reading frame (ORF) annotation in the exon skipping event for BCL9L |
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 |
ENST00000334801 | 118902990 | 118903074 | Frame-shift |
ENST00000334801 | 118903236 | 118903452 | Frame-shift |
ENST00000334801 | 118899917 | 118900198 | 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 |
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 |
ENST00000334801 | 118902990 | 118903074 | Frame-shift |
ENST00000334801 | 118903236 | 118903452 | Frame-shift |
ENST00000334801 | 118899917 | 118900198 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for BCL9L |
p-ENSG00000186174_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 |
ENST00000334801 | 10022 | 1499 | 118899917 | 118900198 | 4090 | 4370 | 1041 | 1135 |
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 |
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 |
ENST00000334801 | 10022 | 1499 | 118899917 | 118900198 | 4090 | 4370 | 1041 | 1135 |
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 |
Q86UU0 | 1041 | 1135 | 1 | 1499 | Chain | ID=PRO_0000314079;Note=B-cell CLL/lymphoma 9-like protein |
Q86UU0 | 1041 | 1135 | 891 | 1378 | Compositional bias | Note=Pro-rich |
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 |
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 |
Q86UU0 | 1041 | 1135 | 1 | 1499 | Chain | ID=PRO_0000314079;Note=B-cell CLL/lymphoma 9-like protein |
Q86UU0 | 1041 | 1135 | 891 | 1378 | Compositional bias | Note=Pro-rich |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in BCL9L |
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 |
Top |
SNVs in the skipped exons for BCL9L |
- 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 |
Top |
AD stage-associated exon skippint events for BCL9L |
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 |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BCL9L |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
Top |
Correlation with RNA binding proteins (RBPs) for BCL9L |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | ZNF638 | exon_skip_40108 | 5.363170e-01 | 1.070502e-12 |
CB | RBM45 | exon_skip_40108 | -4.999609e-01 | 5.461819e-11 |
CB | NUP42 | exon_skip_40108 | -5.197477e-01 | 6.808353e-12 |
CB | RBM4 | exon_skip_40108 | 5.515472e-01 | 1.784051e-13 |
CB | NUP42 | exon_skip_110190 | 4.368448e-01 | 1.325233e-08 |
Top |
RelatedDrugs for BCL9L |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for BCL9L |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |