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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for CNN3 |
 Gene summary |
| Gene information | Gene symbol | CNN3 | Gene ID | 1266 |
| Gene name | calponin 3 | |
| Synonyms | - | |
| Cytomap | 1p21.3 | |
| Type of gene | protein-coding | |
| Description | calponin-3calponin 3, acidiccalponin, acidic isoformdJ639P13.2.2 (acidic calponin 3) | |
| Modification date | 20180522 | |
| UniProtAcc | Q15417 | |
| Context | PubMed: CNN3 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| 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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Exon skipping events across known transcript of Ensembl for CNN3 from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for CNN3 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for CNN3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_28628 | 1 | 95367224:95367341:95367676:95367814:95368677:95368744 | 95367676:95367814 | ENSG00000117519.11 | ENST00000370206.4,ENST00000545882.1,ENST00000538964.1,ENST00000415017.1,ENST00000487539.1 |
| exon_skip_28629 | 1 | 95367733:95367814:95368677:95368744:95368958:95369080 | 95368677:95368744 | ENSG00000117519.11 | ENST00000370206.4,ENST00000474409.1,ENST00000545882.1,ENST00000538964.1,ENST00000415017.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CNN3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_28628 | 1 | 95367224:95367341:95367676:95367814:95368677:95368744 | 95367676:95367814 | ENSG00000117519.11 | ENST00000370206.4,ENST00000538964.1,ENST00000545882.1,ENST00000487539.1,ENST00000415017.1 |
| exon_skip_28629 | 1 | 95367733:95367814:95368677:95368744:95368958:95369080 | 95368677:95368744 | ENSG00000117519.11 | ENST00000370206.4,ENST00000538964.1,ENST00000545882.1,ENST00000415017.1,ENST00000474409.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for CNN3 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000370206 | 95368677 | 95368744 | Frame-shift |
| ENST00000370206 | 95367676 | 95367814 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000370206 | 95368677 | 95368744 | Frame-shift |
| ENST00000370206 | 95367676 | 95367814 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CNN3 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 |
| ENST00000370206 | 2182 | 329 | 95367676 | 95367814 | 631 | 768 | 82 | 128 |
| Loci of skipped exons in GTEx 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 |
| ENST00000370206 | 2182 | 329 | 95367676 | 95367814 | 631 | 768 | 82 | 128 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 |
| Q15417 | 82 | 128 | 83 | 128 | Alternative sequence | ID=VSP_055192;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q15417 | 82 | 128 | 1 | 329 | Chain | ID=PRO_0000204776;Note=Calponin-3 |
| Q15417 | 82 | 128 | 26 | 130 | Domain | Note=Calponin-homology (CH);Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00044 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| 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 |
| Q15417 | 82 | 128 | 83 | 128 | Alternative sequence | ID=VSP_055192;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q15417 | 82 | 128 | 1 | 329 | Chain | ID=PRO_0000204776;Note=Calponin-3 |
| Q15417 | 82 | 128 | 26 | 130 | Domain | Note=Calponin-homology (CH);Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00044 |
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SNVs in the skipped exons for CNN3 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| CHOL | TCGA-W5-AA39-01 | exon_skip_28629 | 95368678 | 95368744 | 95368720 | 95368720 | Frame_Shift_Del | G | - | p.G68fs |
| COAD | TCGA-D5-6928-01 | exon_skip_28628 | 95367677 | 95367814 | 95367781 | 95367782 | Frame_Shift_Ins | - | A | p.Q94fs |
| ESCA | TCGA-VR-A8Q7-01 | exon_skip_28628 | 95367677 | 95367814 | 95367781 | 95367781 | Nonsense_Mutation | G | A | p.Q94X |
| LUAD | TCGA-73-4658-01 | exon_skip_28629 | 95368678 | 95368744 | 95368680 | 95368680 | Nonsense_Mutation | G | A | p.Q82* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| SNU1040_LARGE_INTESTINE | 95368678 | 95368744 | 95368726 | 95368726 | Missense_Mutation | C | A | p.Q66H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CNN3 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
| exon_skip_28628 | 1 | 95367224:95367341:95367676:95367814:95368677:95368744 | 95367676:95367814 | ENST00000370206.4,ENST00000545882.1,ENST00000538964.1,ENST00000415017.1,ENST00000487539.1 | THYM | rs2228344 | chr1:95367773 | A/G | 4.01e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CNN3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CNN3 |
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RelatedDrugs for CNN3 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for CNN3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CNN3 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| CNN3 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
| CNN3 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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