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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 CTTNBP2 |
 Gene summary |
| Gene information | Gene symbol | CTTNBP2 | Gene ID | 83992 |
| Gene name | cortactin binding protein 2 | |
| Synonyms | C7orf8|CORTBP2|Orf4 | |
| Cytomap | 7q31.31 | |
| Type of gene | protein-coding | |
| Description | cortactin-binding protein 2CORTBP2, C7orf8 | |
| 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 CTTNBP2 |
| 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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ENSG00000077063
| 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 | ENST00000435233.5 | CTTNBP2-205:protein_coding:CTTNBP2 | 1.129807e+01 | 1.454057e+00 | 1.018675e-11 | 9.868515e-10 |
| TC | UP | ENST00000435233.5 | CTTNBP2-205:protein_coding:CTTNBP2 | 5.852201e+00 | 1.785308e+00 | 1.564277e-11 | 3.984735e-09 |
| 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 CTTNBP2 |
| 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_129115 | chr7 | 117725052:117725257:117728089:117728267:117734913:117735100 | 117728089:117728267 |
| exon_skip_171565 | chr7 | 117735331:117735421:117745831:117745930:117756555:117756634 | 117745831:117745930 |
| exon_skip_187245 | chr7 | 117745831:117745930:117746013:117746099:117756555:117756634 | 117746013:117746099 |
| exon_skip_19605 | chr7 | 117777511:117777765:117780441:117780591:117782862:117782961 | 117780441:117780591 |
| exon_skip_220489 | chr7 | 117719504:117719636:117721067:117721130:117724547:117724678 | 117721067:117721130 |
| exon_skip_222396 | chr7 | 117760435:117760710:117767059:117767176:117777511:117777765 | 117767059:117767176 |
| exon_skip_275044 | chr7 | 117780441:117780591:117782862:117782961:117784251:117784454 | 117782862:117782961 |
| exon_skip_284649 | chr7 | 117784251:117784454:117786386:117786425:117791291:117791426 | 117786386:117786425 |
| exon_skip_295460 | chr7 | 117784251:117784454:117786386:117786425:117791291:117791780 | 117786386:117786425 |
| exon_skip_59958 | chr7 | 117711628:117711782:117718018:117718119:117719504:117719636 | 117718018:117718119 |
| exon_skip_8033 | chr7 | 117719504:117719636:117721067:117721130:117724547:117724732 | 117721067:117721130 |
| exon_skip_91543 | chr7 | 117724547:117724732:117725052:117725257:117728089:117728208 | 117725052:117725257 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_187245 | Mayo_CB | 7.259259e-01 | 8.456923e-01 | -1.197664e-01 | 9.638867e-08 |
| exon_skip_187245 | Mayo_TC | 8.445122e-01 | 9.490411e-01 | -1.045289e-01 | 2.040787e-08 |
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Open reading frame (ORF) annotation in the exon skipping event for CTTNBP2 |
| 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 |
| ENST00000160373 | 117721067 | 117721130 | Frame-shift |
| ENST00000160373 | 117725052 | 117725257 | Frame-shift |
| ENST00000160373 | 117728089 | 117728267 | Frame-shift |
| ENST00000160373 | 117767059 | 117767176 | Frame-shift |
| ENST00000160373 | 117780441 | 117780591 | Frame-shift |
| ENST00000160373 | 117782862 | 117782961 | Frame-shift |
| ENST00000160373 | 117746013 | 117746099 | 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 |
| ENST00000160373 | 117725052 | 117725257 | Frame-shift |
| ENST00000160373 | 117728089 | 117728267 | Frame-shift |
| ENST00000160373 | 117767059 | 117767176 | Frame-shift |
| ENST00000160373 | 117782862 | 117782961 | Frame-shift |
| ENST00000160373 | 117746013 | 117746099 | 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 |
| ENST00000160373 | 117721067 | 117721130 | Frame-shift |
| ENST00000160373 | 117725052 | 117725257 | Frame-shift |
| ENST00000160373 | 117728089 | 117728267 | Frame-shift |
| ENST00000160373 | 117767059 | 117767176 | Frame-shift |
| ENST00000160373 | 117780441 | 117780591 | Frame-shift |
| ENST00000160373 | 117782862 | 117782961 | Frame-shift |
| ENST00000160373 | 117718018 | 117718119 | In-frame |
| ENST00000160373 | 117746013 | 117746099 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CTTNBP2 |
p-ENSG00000077063_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 |
| ENST00000160373 | 5987 | 1663 | 117746013 | 117746099 | 3441 | 3526 | 1116 | 1144 |
| 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 |
| ENST00000160373 | 5987 | 1663 | 117746013 | 117746099 | 3441 | 3526 | 1116 | 1144 |
| 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 |
| ENST00000160373 | 5987 | 1663 | 117746013 | 117746099 | 3441 | 3526 | 1116 | 1144 |
| ENST00000160373 | 5987 | 1663 | 117718018 | 117718119 | 4737 | 4837 | 1548 | 1581 |
| 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 |
| Q8WZ74 | 1116 | 1144 | 1 | 1663 | Chain | ID=PRO_0000227002;Note=Cortactin-binding protein 2 |
| 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 |
| Q8WZ74 | 1116 | 1144 | 1 | 1663 | Chain | ID=PRO_0000227002;Note=Cortactin-binding protein 2 |
| 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 |
| Q8WZ74 | 1116 | 1144 | 1 | 1663 | Chain | ID=PRO_0000227002;Note=Cortactin-binding protein 2 |
| Q8WZ74 | 1548 | 1581 | 1 | 1663 | Chain | ID=PRO_0000227002;Note=Cortactin-binding protein 2 |
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3'-UTR located exon skipping events that lost miRNA binding sites in CTTNBP2 |
| 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 CTTNBP2 |
| - 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 CTTNBP2 |
| 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 CTTNBP2 |
| 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 CTTNBP2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | DAZAP1 | exon_skip_187245 | -4.141113e-01 | 2.037238e-07 |
| CB | TRA2A | exon_skip_187245 | -6.321561e-01 | 1.157272e-17 |
| CB | SNRPA | exon_skip_187245 | -4.153729e-01 | 1.854769e-07 |
| CB | NUP42 | exon_skip_187245 | 5.794992e-01 | 1.810764e-14 |
| CB | PTBP1 | exon_skip_187245 | -4.585156e-01 | 5.887003e-09 |
| CB | SRSF2 | exon_skip_222396 | 4.047103e-01 | 6.440003e-07 |
| CB | RBM3 | exon_skip_222396 | 4.549819e-01 | 1.444515e-08 |
| CB | NUP42 | exon_skip_222396 | 5.414827e-01 | 4.119956e-12 |
| TC | PTBP1 | exon_skip_187245 | -4.822387e-01 | 2.103639e-10 |
| TC | NOVA1 | exon_skip_187245 | 4.847667e-01 | 1.639891e-10 |
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RelatedDrugs for CTTNBP2 |
| 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 CTTNBP2 |
| 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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