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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 CBLC |
 Gene summary |
| Gene information | Gene symbol | CBLC | Gene ID | 23624 |
| Gene name | Cbl proto-oncogene C | |
| Synonyms | CBL-3|CBL-SL|RNF57 | |
| Cytomap | 19q13.32 | |
| Type of gene | protein-coding | |
| Description | E3 ubiquitin-protein ligase CBL-CCas-Br-M (murine) ecotropic retroviral transforming sequence cCas-Br-M (murine) ectropic retroviral transforming sequence cCbl proto-oncogene C, E3 ubiquitin protein ligaseCbl proto-oncogene, E3 ubiquitin protein ligas | |
| Modification date | 20200313 | |
| UniProtAcc | A0A2R8Y647, Q9ULV8, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| CBLC | GO:0006511 | ubiquitin-dependent protein catabolic process | 14661060 |
| CBLC | GO:0007175 | negative regulation of epidermal growth factor-activated receptor activity | 10362357 |
| CBLC | GO:0016567 | protein ubiquitination | 14661060 |
| CBLC | GO:0042059 | negative regulation of epidermal growth factor receptor signaling pathway | 10362357 |
| CBLC | GO:0043407 | negative regulation of MAP kinase activity | 10362357 |
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Gene structures and expression levels for CBLC |
| 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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ENSG00000142273
| 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 CBLC |
| 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_250367 | chr19 | 44781207:44781363:44782370:44782491:44784264:44784401 | 44782370:44782491 |
| exon_skip_67103 | chr19 | 44782370:44782491:44784264:44784401:44790004:44790091 | 44784264:44784401 |
| 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 CBLC |
| 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 |
| ENST00000647358 | 44784264 | 44784401 | 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 |
| ENST00000647358 | 44782370 | 44782491 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for CBLC |
p-ENSG00000142273_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 |
| ENST00000647358 | 1548 | 474 | 44784264 | 44784401 | 796 | 932 | 260 | 305 |
| 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 |
| Q9ULV8 | 260 | 305 | 261 | 306 | Alternative sequence | ID=VSP_005732;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10362357;Dbxref=PMID:10362357 |
| Q9ULV8 | 260 | 305 | 260 | 265 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3VRP |
| Q9ULV8 | 260 | 305 | 267 | 269 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3VRP |
| Q9ULV8 | 260 | 305 | 273 | 278 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3VRP |
| Q9ULV8 | 260 | 305 | 284 | 287 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3VRP |
| Q9ULV8 | 260 | 305 | 264 | 264 | Binding site | Note=Phosphotyrosine |
| Q9ULV8 | 260 | 305 | 1 | 474 | Chain | ID=PRO_0000055866;Note=E3 ubiquitin-protein ligase CBL-C |
| Q9ULV8 | 260 | 305 | 7 | 321 | Domain | Note=Cbl-PTB;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00839 |
| Q9ULV8 | 260 | 305 | 294 | 303 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3VRP |
| Q9ULV8 | 260 | 305 | 264 | 264 | Mutagenesis | Note=Abolishes interaction with EGFR. Decreases interaction with SRC and abolishes SRC ubiquitination. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22888118;Dbxref=PMID:22888118 |
| Q9ULV8 | 260 | 305 | 265 | 265 | Mutagenesis | Note=Enhances interaction with EGFR and SRC as well as SRC ubiquitination. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22888118;Dbxref=PMID:22888118 |
| Q9ULV8 | 260 | 305 | 266 | 266 | Mutagenesis | Note=Decreases interactions with EGFR and SRC as well as SRC ubiquitination. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22888118;Dbxref=PMID:22888118 |
| Q9ULV8 | 260 | 305 | 268 | 268 | Mutagenesis | Note=Abolishes interaction with EGFR. Decreases interaction with and ubiquitination of SRC. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22888118;Dbxref=PMID:22888118 |
| Q9ULV8 | 260 | 305 | 276 | 276 | Mutagenesis | Note=No effect on interaction with RET. Binds slightly to SRC%2C this interaction is independent of SRC phosphorylation. Strongly decreases SRC ubiquitination. Abolishes interaction with EGFR. G->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidenc |
| Q9ULV8 | 260 | 305 | 219 | 321 | Region | Note=SH2-like |
| 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 CBLC |
| 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 CBLC |
| - 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 CBLC |
| 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 CBLC |
| 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 CBLC |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for CBLC |
| 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 CBLC |
| 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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