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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 CBLB |
 Gene summary |
| Gene information | Gene symbol | CBLB | Gene ID | 868 |
| Gene name | Cbl proto-oncogene B | |
| Synonyms | Cbl-b|Nbla00127|RNF56 | |
| Cytomap | 3q13.11 | |
| Type of gene | protein-coding | |
| Description | E3 ubiquitin-protein ligase CBL-BCas-Br-M (murine) ecotropic retroviral transforming sequence bCbl proto-oncogene B, E3 ubiquitin protein ligaseCbl proto-oncogene, E3 ubiquitin protein ligase BRING finger protein 56RING-type E3 ubiquitin transferase | |
| Modification date | 20200327 | |
| UniProtAcc | A0A2R8Y582, | |
| 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 CBLB |
| 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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ENSG00000114423
| 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 |
| CB | UP | ENST00000403724.5 | CBLB-202:protein_coding:CBLB | 2.612851e+01 | 1.087481e+00 | 8.175393e-08 | 1.792581e-06 |
| CB | UP | ENST00000651978.1 | CBLB-218:protein_coding:CBLB | 1.897632e+01 | 1.859303e+00 | 8.591331e-07 | 1.317900e-05 |
| CB | UP | ENST00000447441.6 | CBLB-207:protein_coding:CBLB | 1.324571e+01 | 1.232528e+00 | 2.208129e-03 | 9.996446e-03 |
| CB | UP | ENST00000646825.1 | CBLB-217:nonsense_mediated_decay:CBLB | 1.119187e+01 | 2.234642e+00 | 3.490046e-03 | 1.461623e-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 CBLB |
| 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_114915 | chr3 | 105720066:105720250:105724026:105724189:105734009:105734140 | 105724026:105724189 |
| exon_skip_149693 | chr3 | 105776523:105776542:105853414:105853664:105867410:105867591 | 105853414:105853664 |
| exon_skip_160251 | chr3 | 105720047:105720250:105724026:105724189:105734009:105734140 | 105724026:105724189 |
| exon_skip_188990 | chr3 | 105678431:105678571:105681479:105681610:105681724:105681734 | 105681479:105681610 |
| exon_skip_216114 | chr3 | 105681724:105681818:105685320:105685466:105693494:105693588 | 105685320:105685466 |
| exon_skip_255943 | chr3 | 105658970:105659229:105670233:105670352:105678431:105678571 | 105670233:105670352 |
| exon_skip_256632 | chr3 | 105745917:105746038:105751462:105751618:105776396:105776542 | 105751462:105751618 |
| exon_skip_256912 | chr3 | 105745917:105746038:105751462:105751618:105776396:105776460 | 105751462:105751618 |
| exon_skip_267741 | chr3 | 105776523:105776542:105839423:105839470:105853414:105853664 | 105839423:105839470 |
| exon_skip_277655 | chr3 | 105776523:105776542:105839423:105839470:105853414:105853646 | 105839423:105839470 |
| exon_skip_286999 | chr3 | 105671024:105671046:105672337:105672462:105678431:105678571 | 105672337:105672462 |
| exon_skip_288004 | chr3 | 105678431:105678571:105681293:105681610:105681724:105681818 | 105681293:105681610 |
| exon_skip_293617 | chr3 | 105670233:105670352:105671024:105671046:105678431:105678571 | 105671024:105671046 |
| exon_skip_32138 | chr3 | 105751527:105751618:105776396:105776542:105853414:105853646 | 105776396:105776542 |
| exon_skip_32666 | chr3 | 105670233:105670352:105678431:105678571:105681724:105681818 | 105678431:105678571 |
| exon_skip_3857 | chr3 | 105678431:105678571:105681479:105681610:105681724:105681818 | 105681479:105681610 |
| exon_skip_58100 | chr3 | 105670233:105670352:105671021:105671046:105678431:105678571 | 105671021:105671046 |
| exon_skip_61781 | chr3 | 105745917:105746038:105749622:105749765:105751462:105751618 | 105749622:105749765 |
| exon_skip_62594 | chr3 | 105751527:105751618:105776396:105776542:105853414:105853494 | 105776396:105776542 |
| exon_skip_67823 | chr3 | 105776523:105776542:105839423:105839470:105853414:105853494 | 105839423:105839470 |
| exon_skip_68806 | chr3 | 105703988:105704173:105720047:105720250:105734009:105734140 | 105720047:105720250 |
| exon_skip_970 | chr3 | 105734009:105734140:105737171:105737258:105740494:105740631 | 105737171:105737258 |
| 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 CBLB |
| 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 |
| ENST00000394030 | 105853414 | 105853664 | Frame-shift |
| ENST00000394030 | 105681479 | 105681610 | In-frame |
| ENST00000394030 | 105685320 | 105685466 | In-frame |
| ENST00000394030 | 105776396 | 105776542 | 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 |
| ENST00000394030 | 105681479 | 105681610 | 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 |
| ENST00000394030 | 105737171 | 105737258 | Frame-shift |
| ENST00000394030 | 105751462 | 105751618 | Frame-shift |
| ENST00000394030 | 105853414 | 105853664 | Frame-shift |
| ENST00000394030 | 105670233 | 105670352 | In-frame |
| ENST00000394030 | 105681479 | 105681610 | In-frame |
| ENST00000394030 | 105685320 | 105685466 | In-frame |
| ENST00000394030 | 105720047 | 105720250 | In-frame |
| ENST00000394030 | 105776396 | 105776542 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CBLB |
p-ENSG00000114423_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 |
| 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 |
| 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 |
| 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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in CBLB |
| 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 CBLB |
| - 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 CBLB |
| 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 CBLB |
| 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 CBLB |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | ZNF638 | exon_skip_3857 | -4.549371e-01 | 3.077836e-09 |
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RelatedDrugs for CBLB |
| 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 CBLB |
| 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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