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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 CTNNA3 |
Gene summary |
| Gene information | Gene symbol | CTNNA3 | Gene ID | 29119 |
| Gene name | catenin alpha 3 | |
| Synonyms | ARVD13|VR22 | |
| Cytomap | 10q21.3 | |
| Type of gene | protein-coding | |
| Description | catenin alpha-3alpha-T-cateninalpha-catenin-like proteincatenin (cadherin-associated protein), alpha 3 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9UI47 | |
| Context | PubMed: CTNNA3 [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 CTNNA3 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 CTNNA3 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for CTNNA3 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_49634 | 10 | 68280374:68280531:68381449:68381542:68526021:68526174 | 68381449:68381542 | ENSG00000183230.12 | ENST00000433211.2,ENST00000373744.4 |
| exon_skip_49635 | 10 | 69299260:69299427:69366614:69366807:69407172:69407271 | 69366614:69366807 | ENSG00000183230.12 | ENST00000330298.6,ENST00000545309.1,ENST00000433211.2,ENST00000373744.4 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CTNNA3 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_49634 | 10 | 68280374:68280531:68381449:68381542:68526021:68526174 | 68381449:68381542 | ENSG00000183230.12 | ENST00000433211.2,ENST00000373744.4 |
| exon_skip_49635 | 10 | 69299260:69299427:69366614:69366807:69407172:69407271 | 69366614:69366807 | ENSG00000183230.12 | ENST00000433211.2,ENST00000373744.4,ENST00000545309.1,ENST00000330298.6 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for CTNNA3 |
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 |
| ENST00000433211 | 69366614 | 69366807 | Frame-shift |
| ENST00000433211 | 68381449 | 68381542 | 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 |
| ENST00000433211 | 69366614 | 69366807 | Frame-shift |
| ENST00000433211 | 68381449 | 68381542 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CTNNA3 |
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 |
| ENST00000433211 | 10692 | 895 | 68381449 | 68381542 | 1457 | 1549 | 427 | 458 |
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 |
| ENST00000433211 | 10692 | 895 | 68381449 | 68381542 | 1457 | 1549 | 427 | 458 |
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 |
| Q9UI47 | 427 | 458 | 1 | 895 | Chain | ID=PRO_0000064266;Note=Catenin alpha-3 |
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 |
| Q9UI47 | 427 | 458 | 1 | 895 | Chain | ID=PRO_0000064266;Note=Catenin alpha-3 |
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SNVs in the skipped exons for CTNNA3 |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- 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 |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_49634 | 68381450 | 68381542 | 68381494 | 68381494 | Frame_Shift_Del | T | - | p.I444fs |
| UCEC | TCGA-A5-A0G9-01 | exon_skip_49635 | 69366615 | 69366807 | 69366760 | 69366760 | Frame_Shift_Del | T | - | p.K49fs |
| BLCA | TCGA-DK-A6AW-01 | exon_skip_49635 | 69366615 | 69366807 | 69366618 | 69366618 | Nonsense_Mutation | C | A | p.E97* |
- 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 |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 68381450 | 68381542 | 68381464 | 68381464 | Missense_Mutation | T | G | p.T454P |
| CCK81_LARGE_INTESTINE | 68381450 | 68381542 | 68381485 | 68381485 | Missense_Mutation | T | C | p.I447V |
| LCLC97TM1_LUNG | 68381450 | 68381542 | 68381492 | 68381492 | Missense_Mutation | A | C | p.I444M |
| HCT15_LARGE_INTESTINE | 69366615 | 69366807 | 69366623 | 69366623 | Missense_Mutation | C | T | p.R95H |
| KYSE520_OESOPHAGUS | 69366615 | 69366807 | 69366717 | 69366717 | Missense_Mutation | C | T | p.E64K |
| JHUEM7_ENDOMETRIUM | 69366615 | 69366807 | 69366737 | 69366737 | Missense_Mutation | A | G | p.V57A |
| HCC2450_LUNG | 69366615 | 69366807 | 69366740 | 69366740 | Missense_Mutation | C | A | p.S56I |
| RL952_ENDOMETRIUM | 69366615 | 69366807 | 69366740 | 69366740 | Missense_Mutation | C | T | p.S56N |
| CW2_LARGE_INTESTINE | 69366615 | 69366807 | 69366740 | 69366740 | Missense_Mutation | C | T | p.S56N |
| KM12_LARGE_INTESTINE | 69366615 | 69366807 | 69366746 | 69366746 | Missense_Mutation | C | T | p.R54K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CTNNA3 |
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 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CTNNA3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CTNNA3 |
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RelatedDrugs for CTNNA3 |
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 CTNNA3 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CTNNA3 | C0004096 | Asthma | 1 | CTD_human |
| CTNNA3 | C0236969 | Substance-Related Disorders | 1 | CTD_human |
| CTNNA3 | C3810138 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13 | 1 | UNIPROT |