|
||||||
|
 | |
| |
| |
| 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 CBLN2 |
 Gene summary |
| Gene information | Gene symbol | CBLN2 | Gene ID | 147381 |
| Gene name | cerebellin 2 precursor | |
| Synonyms | - | |
| Cytomap | 18q22.3 | |
| Type of gene | protein-coding | |
| Description | cerebellin-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 CBLN2 |
| 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. |
 |
ENSG00000141668
| 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 |
| PG | DOWN | ENST00000580889.1 | CBLN2-202:lncRNA:CBLN2 | 5.632404e+00 | -8.182324e-01 | 1.591149e-05 | 7.099793e-04 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
 |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for CBLN2 |
| 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_137578 | chr18 | 72538653:72538772:72541804:72542326:72543486:72543554 | 72541804:72542326 |
| exon_skip_216692 | chr18 | 72544453:72544608:72552571:72552636:72638352:72638455 | 72552571:72552636 |
| exon_skip_264794 | chr18 | 72538342:72538373:72538653:72538772:72541804:72542326 | 72538653:72538772 |
| exon_skip_276052 | chr18 | 72538150:72538373:72538653:72538772:72541804:72542326 | 72538653:72538772 |
| exon_skip_33146 | chr18 | 72541804:72542326:72543486:72543530:72543977:72544342 | 72543486:72543530 |
| 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 CBLN2 |
| 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 |
| ENST00000269503 | 72541804 | 72542326 | 3UTR-3CDS |
| ENST00000269503 | 72543486 | 72543530 | 3UTR-3UTR |
| ENST00000269503 | 72538653 | 72538772 | In-frame |
| ENST00000585159 | 72538653 | 72538772 | 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 |
| ENST00000269503 | 72543486 | 72543530 | 3UTR-3UTR |
| ENST00000269503 | 72538653 | 72538772 | In-frame |
| ENST00000585159 | 72538653 | 72538772 | 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 |
| ENST00000269503 | 72543486 | 72543530 | 3UTR-3UTR |
| ENST00000269503 | 72538653 | 72538772 | In-frame |
| ENST00000585159 | 72538653 | 72538772 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for CBLN2 |
p-ENSG00000141668_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 |
| ENST00000269503 | 2962 | 224 | 72538653 | 72538772 | 1132 | 1250 | 119 | 158 |
| ENST00000585159 | 2423 | 224 | 72538653 | 72538772 | 593 | 711 | 119 | 158 |
| 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 |
| ENST00000269503 | 2962 | 224 | 72538653 | 72538772 | 1132 | 1250 | 119 | 158 |
| ENST00000585159 | 2423 | 224 | 72538653 | 72538772 | 593 | 711 | 119 | 158 |
| 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 |
| ENST00000269503 | 2962 | 224 | 72538653 | 72538772 | 1132 | 1250 | 119 | 158 |
| ENST00000585159 | 2423 | 224 | 72538653 | 72538772 | 593 | 711 | 119 | 158 |
| 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 |
| Q8IUK8 | 119 | 158 | 52 | 224 | Chain | ID=PRO_0000003551;Note=Cerebellin-2 |
| Q8IUK8 | 119 | 158 | 52 | 224 | Chain | ID=PRO_0000003551;Note=Cerebellin-2 |
| Q8IUK8 | 119 | 158 | 88 | 224 | Domain | Note=C1q;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00368 |
| Q8IUK8 | 119 | 158 | 88 | 224 | Domain | Note=C1q;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00368 |
| 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 |
| Q8IUK8 | 119 | 158 | 52 | 224 | Chain | ID=PRO_0000003551;Note=Cerebellin-2 |
| Q8IUK8 | 119 | 158 | 52 | 224 | Chain | ID=PRO_0000003551;Note=Cerebellin-2 |
| Q8IUK8 | 119 | 158 | 88 | 224 | Domain | Note=C1q;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00368 |
| Q8IUK8 | 119 | 158 | 88 | 224 | Domain | Note=C1q;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00368 |
| 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 |
| Q8IUK8 | 119 | 158 | 52 | 224 | Chain | ID=PRO_0000003551;Note=Cerebellin-2 |
| Q8IUK8 | 119 | 158 | 52 | 224 | Chain | ID=PRO_0000003551;Note=Cerebellin-2 |
| Q8IUK8 | 119 | 158 | 88 | 224 | Domain | Note=C1q;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00368 |
| Q8IUK8 | 119 | 158 | 88 | 224 | Domain | Note=C1q;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00368 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in CBLN2 |
| 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 CBLN2 |
| - 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 CBLN2 |
| 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 CBLN2 |
| 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 CBLN2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
Top |
RelatedDrugs for CBLN2 |
| 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 CBLN2 |
| 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)
|