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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 CAMTA2 |
 Gene summary |
| Gene information | Gene symbol | CAMTA2 | Gene ID | 23125 |
| Gene name | calmodulin binding transcription activator 2 | |
| Synonyms | - | |
| Cytomap | 17p13.2 | |
| Type of gene | protein-coding | |
| Description | calmodulin-binding transcription activator 2 | |
| Modification date | 20180523 | |
| UniProtAcc | O94983 | |
| Context | PubMed: CAMTA2 [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 |
| CAMTA2 | GO:0006357 | regulation of transcription by RNA polymerase II | 16678093 |
| CAMTA2 | GO:0014898 | cardiac muscle hypertrophy in response to stress | 16678093 |
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Exon skipping events across known transcript of Ensembl for CAMTA2 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 CAMTA2 |
| 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 CAMTA2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_285847 | 17 | 4872444:4872632:4872794:4872815:4872924:4872996 | 4872794:4872815 | ENSG00000108509.16 | ENST00000572543.1,ENST00000361571.5,ENST00000414043.3,ENST00000348066.3 |
| exon_skip_285849 | 17 | 4873634:4873831:4875526:4875831:4876063:4876088 | 4875526:4875831 | ENSG00000108509.16 | ENST00000572543.1,ENST00000381311.5,ENST00000576872.1,ENST00000361571.5,ENST00000358183.4,ENST00000414043.3,ENST00000348066.3,ENST00000574951.1 |
| exon_skip_285851 | 17 | 4876469:4876548:4876879:4877064:4877679:4877795 | 4876879:4877064 | ENSG00000108509.16 | ENST00000572543.1,ENST00000381311.5,ENST00000361571.5,ENST00000358183.4,ENST00000414043.3,ENST00000348066.3,ENST00000574951.1 |
| exon_skip_285854 | 17 | 4877679:4877795:4880352:4880487:4881798:4881864 | 4880352:4880487 | ENSG00000108509.16 | ENST00000572543.1,ENST00000572326.1,ENST00000381311.5,ENST00000361571.5,ENST00000358183.4,ENST00000414043.3,ENST00000348066.3,ENST00000574951.1 |
| exon_skip_285856 | 17 | 4881798:4881925:4882978:4883916:4884519:4884654 | 4882978:4883916 | ENSG00000108509.16 | ENST00000572543.1,ENST00000381311.5,ENST00000361571.5,ENST00000358183.4,ENST00000414043.3,ENST00000348066.3,ENST00000574951.1 |
| exon_skip_285861 | 17 | 4884519:4884654:4884972:4885037:4886051:4886187 | 4884972:4885037 | ENSG00000108509.16 | ENST00000574606.2 |
| exon_skip_285862 | 17 | 4884519:4884654:4884972:4885126:4885383:4885455 | 4884972:4885126 | ENSG00000108509.16 | ENST00000572543.1,ENST00000381311.5,ENST00000573004.1,ENST00000358183.4,ENST00000414043.3,ENST00000348066.3,ENST00000574951.1 |
| exon_skip_285863 | 17 | 4884519:4884654:4884972:4885126:4886051:4886187 | 4884972:4885126 | ENSG00000108509.16 | ENST00000361571.5 |
| exon_skip_285873 | 17 | 4885013:4885126:4885383:4885455:4886051:4886147 | 4885383:4885455 | ENSG00000108509.16 | ENST00000381311.5,ENST00000358183.4,ENST00000414043.3,ENST00000348066.3 |
| exon_skip_285874 | 17 | 4885013:4885126:4885383:4885470:4886051:4886147 | 4885383:4885470 | ENSG00000108509.16 | ENST00000572543.1 |
| exon_skip_285876 | 17 | 4885013:4885126:4885383:4885522:4886051:4886147 | 4885383:4885522 | ENSG00000108509.16 | ENST00000573004.1,ENST00000571831.1,ENST00000574951.1 |
| exon_skip_285879 | 17 | 4886270:4886338:4889174:4889278:4889486:4889508 | 4889174:4889278 | ENSG00000108509.16 | ENST00000572543.1,ENST00000361571.5,ENST00000574606.2,ENST00000358183.4,ENST00000414043.3,ENST00000348066.3,ENST00000574951.1 |
| exon_skip_285882 | 17 | 4889190:4889278:4889486:4889581:4890887:4890927 | 4889486:4889581 | ENSG00000108509.16 | ENST00000572543.1,ENST00000348066.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CAMTA2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_285847 | 17 | 4872444:4872632:4872794:4872815:4872924:4872996 | 4872794:4872815 | ENSG00000108509.16 | ENST00000414043.3,ENST00000361571.5,ENST00000572543.1,ENST00000348066.3 |
| exon_skip_285849 | 17 | 4873634:4873831:4875526:4875831:4876063:4876088 | 4875526:4875831 | ENSG00000108509.16 | ENST00000358183.4,ENST00000574951.1,ENST00000414043.3,ENST00000361571.5,ENST00000572543.1,ENST00000381311.5,ENST00000348066.3,ENST00000576872.1 |
| exon_skip_285851 | 17 | 4876469:4876548:4876879:4877064:4877679:4877795 | 4876879:4877064 | ENSG00000108509.16 | ENST00000358183.4,ENST00000574951.1,ENST00000414043.3,ENST00000361571.5,ENST00000572543.1,ENST00000381311.5,ENST00000348066.3 |
| exon_skip_285854 | 17 | 4877679:4877795:4880352:4880487:4881798:4881864 | 4880352:4880487 | ENSG00000108509.16 | ENST00000358183.4,ENST00000574951.1,ENST00000414043.3,ENST00000361571.5,ENST00000572543.1,ENST00000381311.5,ENST00000348066.3,ENST00000572326.1 |
| exon_skip_285856 | 17 | 4881798:4881925:4882978:4883916:4884519:4884654 | 4882978:4883916 | ENSG00000108509.16 | ENST00000358183.4,ENST00000574951.1,ENST00000414043.3,ENST00000361571.5,ENST00000572543.1,ENST00000381311.5,ENST00000348066.3 |
| exon_skip_285861 | 17 | 4884519:4884654:4884972:4885037:4886051:4886187 | 4884972:4885037 | ENSG00000108509.16 | ENST00000574606.2 |
| exon_skip_285862 | 17 | 4884519:4884654:4884972:4885126:4885383:4885455 | 4884972:4885126 | ENSG00000108509.16 | ENST00000358183.4,ENST00000574951.1,ENST00000414043.3,ENST00000572543.1,ENST00000381311.5,ENST00000348066.3,ENST00000573004.1 |
| exon_skip_285863 | 17 | 4884519:4884654:4884972:4885126:4886051:4886187 | 4884972:4885126 | ENSG00000108509.16 | ENST00000361571.5 |
| exon_skip_285873 | 17 | 4885013:4885126:4885383:4885455:4886051:4886147 | 4885383:4885455 | ENSG00000108509.16 | ENST00000358183.4,ENST00000414043.3,ENST00000381311.5,ENST00000348066.3 |
| exon_skip_285874 | 17 | 4885013:4885126:4885383:4885470:4886051:4886147 | 4885383:4885470 | ENSG00000108509.16 | ENST00000572543.1 |
| exon_skip_285876 | 17 | 4885013:4885126:4885383:4885522:4886051:4886147 | 4885383:4885522 | ENSG00000108509.16 | ENST00000574951.1,ENST00000573004.1,ENST00000571831.1 |
| exon_skip_285879 | 17 | 4886270:4886338:4889174:4889278:4889486:4889508 | 4889174:4889278 | ENSG00000108509.16 | ENST00000358183.4,ENST00000574951.1,ENST00000414043.3,ENST00000361571.5,ENST00000572543.1,ENST00000348066.3,ENST00000574606.2 |
| exon_skip_285882 | 17 | 4889190:4889278:4889486:4889581:4890887:4890927 | 4889486:4889581 | ENSG00000108509.16 | ENST00000572543.1,ENST00000348066.3 |
| 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 CAMTA2 |
| 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 |
| ENST00000348066 | 4889486 | 4889581 | 3UTR-3CDS |
| ENST00000348066 | 4875526 | 4875831 | Frame-shift |
| ENST00000348066 | 4876879 | 4877064 | Frame-shift |
| ENST00000348066 | 4882978 | 4883916 | Frame-shift |
| ENST00000348066 | 4884972 | 4885126 | Frame-shift |
| ENST00000348066 | 4889174 | 4889278 | Frame-shift |
| ENST00000348066 | 4872794 | 4872815 | In-frame |
| ENST00000348066 | 4880352 | 4880487 | In-frame |
| ENST00000348066 | 4885383 | 4885455 | 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 |
| ENST00000348066 | 4889486 | 4889581 | 3UTR-3CDS |
| ENST00000348066 | 4875526 | 4875831 | Frame-shift |
| ENST00000348066 | 4876879 | 4877064 | Frame-shift |
| ENST00000348066 | 4882978 | 4883916 | Frame-shift |
| ENST00000348066 | 4884972 | 4885126 | Frame-shift |
| ENST00000348066 | 4889174 | 4889278 | Frame-shift |
| ENST00000348066 | 4872794 | 4872815 | In-frame |
| ENST00000348066 | 4880352 | 4880487 | In-frame |
| ENST00000348066 | 4885383 | 4885455 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CAMTA2 |
| 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 |
| ENST00000348066 | 4508 | 1202 | 4885383 | 4885455 | 464 | 535 | 113 | 137 |
| ENST00000348066 | 4508 | 1202 | 4880352 | 4880487 | 1890 | 2024 | 588 | 633 |
| 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 |
| ENST00000348066 | 4508 | 1202 | 4885383 | 4885455 | 464 | 535 | 113 | 137 |
| ENST00000348066 | 4508 | 1202 | 4880352 | 4880487 | 1890 | 2024 | 588 | 633 |
| 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 |
| O94983 | 113 | 137 | 1 | 873 | Alternative sequence | ID=VSP_018489;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O94983 | 113 | 137 | 114 | 137 | Alternative sequence | ID=VSP_018492;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| O94983 | 113 | 137 | 1 | 1202 | Chain | ID=PRO_0000235821;Note=Calmodulin-binding transcription activator 2 |
| O94983 | 113 | 137 | 30 | 155 | DNA binding | Note=CG-1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00767 |
| O94983 | 588 | 633 | 1 | 873 | Alternative sequence | ID=VSP_018489;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O94983 | 588 | 633 | 1 | 1202 | Chain | ID=PRO_0000235821;Note=Calmodulin-binding transcription activator 2 |
| O94983 | 588 | 633 | 535 | 617 | Domain | Note=IPT/TIG |
| 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 |
| O94983 | 113 | 137 | 1 | 873 | Alternative sequence | ID=VSP_018489;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O94983 | 113 | 137 | 114 | 137 | Alternative sequence | ID=VSP_018492;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| O94983 | 113 | 137 | 1 | 1202 | Chain | ID=PRO_0000235821;Note=Calmodulin-binding transcription activator 2 |
| O94983 | 113 | 137 | 30 | 155 | DNA binding | Note=CG-1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00767 |
| O94983 | 588 | 633 | 1 | 873 | Alternative sequence | ID=VSP_018489;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O94983 | 588 | 633 | 1 | 1202 | Chain | ID=PRO_0000235821;Note=Calmodulin-binding transcription activator 2 |
| O94983 | 588 | 633 | 535 | 617 | Domain | Note=IPT/TIG |
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SNVs in the skipped exons for CAMTA2 |
| - 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. |
CAMTA2_COAD_exon_skip_285849_psi_boxplot.png |
CAMTA2_COAD_exon_skip_285856_psi_boxplot.png |
CAMTA2_KIRC_exon_skip_285849_psi_boxplot.png |
CAMTA2_STAD_exon_skip_285849_psi_boxplot.png |
CAMTA2_STAD_exon_skip_285856_psi_boxplot.png |
CAMTA2_THYM_exon_skip_285849_psi_boxplot.png |
CAMTA2_UCS_exon_skip_285849_psi_boxplot.png |
| - 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 |
| COAD | TCGA-AA-3663-01 | exon_skip_285849 | 4875527 | 4875831 | 4875738 | 4875738 | Frame_Shift_Del | G | - | p.P889fs |
| COAD | TCGA-AU-6004-01 | exon_skip_285849 | 4875527 | 4875831 | 4875738 | 4875738 | Frame_Shift_Del | G | - | p.P889fs |
| COAD | TCGA-CM-4743-01 | exon_skip_285849 | 4875527 | 4875831 | 4875738 | 4875738 | Frame_Shift_Del | G | - | p.P889fs |
| COAD | TCGA-G4-6586-01 | exon_skip_285849 | 4875527 | 4875831 | 4875738 | 4875738 | Frame_Shift_Del | G | - | p.P889fs |
| STAD | TCGA-MX-A5UJ-01 | exon_skip_285849 | 4875527 | 4875831 | 4875738 | 4875738 | Frame_Shift_Del | G | - | p.P865fs |
| STAD | TCGA-MX-A5UJ-01 | exon_skip_285849 | 4875527 | 4875831 | 4875738 | 4875738 | Frame_Shift_Del | G | - | p.P889fs |
| THYM | TCGA-ZB-A966-01 | exon_skip_285849 | 4875527 | 4875831 | 4875738 | 4875738 | Frame_Shift_Del | G | - | p.P865fs |
| UCEC | TCGA-BG-A18B-01 | exon_skip_285849 | 4875527 | 4875831 | 4875738 | 4875738 | Frame_Shift_Del | G | - | p.P889fs |
| UCEC | TCGA-D1-A0ZO-01 | exon_skip_285849 | 4875527 | 4875831 | 4875738 | 4875738 | Frame_Shift_Del | G | - | p.P889fs |
| UCEC | TCGA-D1-A174-01 | exon_skip_285849 | 4875527 | 4875831 | 4875738 | 4875738 | Frame_Shift_Del | G | - | p.P889fs |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_285849 | 4875527 | 4875831 | 4875738 | 4875738 | Frame_Shift_Del | G | - | p.P865fs |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_285849 | 4875527 | 4875831 | 4875738 | 4875738 | Frame_Shift_Del | G | - | p.P889fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_285851 | 4876880 | 4877064 | 4876988 | 4876988 | Frame_Shift_Del | T | - | p.K697fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_285851 | 4876880 | 4877064 | 4877003 | 4877003 | Frame_Shift_Del | G | - | p.P692fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_285856 | 4882979 | 4883916 | 4883390 | 4883390 | Frame_Shift_Del | G | - | p.P408fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_285856 | 4882979 | 4883916 | 4883681 | 4883681 | Frame_Shift_Del | G | - | p.P311fs |
| COAD | TCGA-AD-6889-01 | exon_skip_285856 | 4882979 | 4883916 | 4883808 | 4883808 | Frame_Shift_Del | G | - | p.P293fs |
| STAD | TCGA-BR-6452-01 | exon_skip_285856 | 4882979 | 4883916 | 4883808 | 4883808 | Frame_Shift_Del | G | - | p.P293fs |
| STAD | TCGA-HU-A4G8-01 | exon_skip_285856 | 4882979 | 4883916 | 4883808 | 4883808 | Frame_Shift_Del | G | - | p.P293fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_285861 | 4884973 | 4885037 | 4884990 | 4884990 | Frame_Shift_Del | C | - | p.G182fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_285862 exon_skip_285863 | 4884973 | 4885126 | 4884990 | 4884990 | Frame_Shift_Del | C | - | p.G182fs |
| COAD | TCGA-CM-6171-01 | exon_skip_285849 | 4875527 | 4875831 | 4875737 | 4875738 | Frame_Shift_Ins | - | G | p.P889fs |
| KIRC | TCGA-A3-3320-01 | exon_skip_285849 | 4875527 | 4875831 | 4875737 | 4875738 | Frame_Shift_Ins | - | G | p.R865fs |
| KIRC | TCGA-A3-3322-01 | exon_skip_285849 | 4875527 | 4875831 | 4875737 | 4875738 | Frame_Shift_Ins | - | G | p.R865fs |
| KIRC | TCGA-A3-3378-01 | exon_skip_285849 | 4875527 | 4875831 | 4875737 | 4875738 | Frame_Shift_Ins | - | G | p.R865fs |
| KIRC | TCGA-A3-3383-01 | exon_skip_285849 | 4875527 | 4875831 | 4875737 | 4875738 | Frame_Shift_Ins | - | G | p.R865fs |
| PAAD | TCGA-IB-7888-01 | exon_skip_285849 | 4875527 | 4875831 | 4875737 | 4875738 | Frame_Shift_Ins | - | G | p.R865fs |
| STAD | TCGA-R5-A7ZI-01 | exon_skip_285849 | 4875527 | 4875831 | 4875737 | 4875738 | Frame_Shift_Ins | - | G | p.R865fs |
| STAD | TCGA-D7-A4YV-01 | exon_skip_285856 | 4882979 | 4883916 | 4883437 | 4883438 | Frame_Shift_Ins | - | C | p.Q417fs |
| STAD | TCGA-D7-A4YV-01 | exon_skip_285856 | 4882979 | 4883916 | 4883438 | 4883439 | Frame_Shift_Ins | - | C | p.G416fs |
| PAAD | TCGA-FB-A4P5-01 | exon_skip_285882 | 4889487 | 4889581 | 4889561 | 4889562 | Frame_Shift_Ins | - | G | p.A9fs |
| BLCA | TCGA-GV-A3JZ-01 | exon_skip_285851 | 4876880 | 4877064 | 4876991 | 4876991 | Nonsense_Mutation | C | T | p.W696* |
| BLCA | TCGA-GV-A3JZ-01 | exon_skip_285851 | 4876880 | 4877064 | 4876991 | 4876991 | Nonsense_Mutation | C | T | p.W697* |
| HNSC | TCGA-CV-5432-01 | exon_skip_285856 | 4882979 | 4883916 | 4883214 | 4883214 | Nonsense_Mutation | G | T | p.S467* |
| HNSC | TCGA-CV-5432-01 | exon_skip_285856 | 4882979 | 4883916 | 4883214 | 4883214 | Nonsense_Mutation | G | T | p.S468* |
| STAD | TCGA-CG-5728-01 | exon_skip_285856 | 4882979 | 4883916 | 4883674 | 4883674 | Nonsense_Mutation | G | A | p.R315* |
| STAD | TCGA-CG-5728-01 | exon_skip_285856 | 4882979 | 4883916 | 4883674 | 4883674 | Nonsense_Mutation | G | A | p.R338X |
| STAD | TCGA-F1-6177-01 | exon_skip_285856 | 4882979 | 4883916 | 4883674 | 4883674 | Nonsense_Mutation | G | A | p.R315* |
| STAD | TCGA-F1-6177-01 | exon_skip_285856 | 4882979 | 4883916 | 4883674 | 4883674 | Nonsense_Mutation | G | A | p.R338X |
| UCEC | TCGA-AP-A056-01 | exon_skip_285861 | 4884973 | 4885037 | 4885027 | 4885027 | Nonsense_Mutation | G | A | p.R171* |
| UCEC | TCGA-AP-A056-01 | exon_skip_285862 exon_skip_285863 | 4884973 | 4885126 | 4885027 | 4885027 | Nonsense_Mutation | G | A | p.R171* |
| STAD | TCGA-B7-5816-01 | exon_skip_285854 | 4880353 | 4880487 | 4880351 | 4880351 | Splice_Site | A | G | p.D634_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-F1-6177-01 |
| Cancer type: STAD | |
| ESID: exon_skip_285856 | |
| Skipped exon start: 4882979 | |
| Skipped exon end: 4883916 | |
| Mutation start: 4883674 | |
| Mutation end: 4883674 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.R338X | |
| Sample: TCGA-F1-6177-01 |
| Cancer type: STAD | |
| ESID: exon_skip_285856 | |
| Skipped exon start: 4882979 | |
| Skipped exon end: 4883916 | |
| Mutation start: 4883674 | |
| Mutation end: 4883674 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.R315* | |
exon_skip_105325_STAD_TCGA-F1-6177-01.png | |
exon_skip_105326_STAD_TCGA-F1-6177-01.png | |
exon_skip_285856_STAD_TCGA-F1-6177-01.png | |
exon_skip_303345_STAD_TCGA-F1-6177-01.png | |
exon_skip_319572_STAD_TCGA-F1-6177-01.png | |
exon_skip_332544_STAD_TCGA-F1-6177-01.png | |
exon_skip_377238_STAD_TCGA-F1-6177-01.png | |
exon_skip_383047_STAD_TCGA-F1-6177-01.png | |
exon_skip_423141_STAD_TCGA-F1-6177-01.png | |
exon_skip_423142_STAD_TCGA-F1-6177-01.png | |
exon_skip_470537_STAD_TCGA-F1-6177-01.png | |
exon_skip_477308_STAD_TCGA-F1-6177-01.png | |
exon_skip_494000_STAD_TCGA-F1-6177-01.png | |
exon_skip_74586_STAD_TCGA-F1-6177-01.png | |
exon_skip_77151_STAD_TCGA-F1-6177-01.png | |
exon_skip_77155_STAD_TCGA-F1-6177-01.png | |
exon_skip_9828_STAD_TCGA-F1-6177-01.png | |
 | Sample: TCGA-BR-6452-01 |
| Cancer type: STAD | |
| ESID: exon_skip_285856 | |
| Skipped exon start: 4882979 | |
| Skipped exon end: 4883916 | |
| Mutation start: 4883808 | |
| Mutation end: 4883808 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.P293fs | |
exon_skip_106795_STAD_TCGA-BR-6452-01.png | |
exon_skip_108765_STAD_TCGA-BR-6452-01.png | |
exon_skip_108766_STAD_TCGA-BR-6452-01.png | |
exon_skip_121160_STAD_TCGA-BR-6452-01.png | |
exon_skip_23930_STAD_TCGA-BR-6452-01.png | |
exon_skip_285856_STAD_TCGA-BR-6452-01.png | |
exon_skip_287166_STAD_TCGA-BR-6452-01.png | |
exon_skip_289814_STAD_TCGA-BR-6452-01.png | |
exon_skip_294522_STAD_TCGA-BR-6452-01.png | |
exon_skip_306852_STAD_TCGA-BR-6452-01.png | |
exon_skip_32096_STAD_TCGA-BR-6452-01.png | |
exon_skip_323984_STAD_TCGA-BR-6452-01.png | |
exon_skip_328488_STAD_TCGA-BR-6452-01.png | |
exon_skip_346425_STAD_TCGA-BR-6452-01.png | |
exon_skip_346426_STAD_TCGA-BR-6452-01.png | |
exon_skip_346508_STAD_TCGA-BR-6452-01.png | |
exon_skip_363933_STAD_TCGA-BR-6452-01.png | |
exon_skip_36702_STAD_TCGA-BR-6452-01.png | |
exon_skip_374468_STAD_TCGA-BR-6452-01.png | |
exon_skip_374469_STAD_TCGA-BR-6452-01.png | |
exon_skip_3814_STAD_TCGA-BR-6452-01.png | |
exon_skip_3815_STAD_TCGA-BR-6452-01.png | |
exon_skip_38648_STAD_TCGA-BR-6452-01.png | |
exon_skip_42656_STAD_TCGA-BR-6452-01.png | |
exon_skip_434406_STAD_TCGA-BR-6452-01.png | |
exon_skip_450406_STAD_TCGA-BR-6452-01.png | |
exon_skip_489149_STAD_TCGA-BR-6452-01.png | |
exon_skip_495200_STAD_TCGA-BR-6452-01.png | |
exon_skip_496317_STAD_TCGA-BR-6452-01.png | |
exon_skip_503611_STAD_TCGA-BR-6452-01.png | |
exon_skip_515792_STAD_TCGA-BR-6452-01.png | |
exon_skip_516330_STAD_TCGA-BR-6452-01.png | |
exon_skip_98550_STAD_TCGA-BR-6452-01.png | |
 | Sample: TCGA-HU-A4G8-01 |
| Cancer type: STAD | |
| ESID: exon_skip_285856 | |
| Skipped exon start: 4882979 | |
| Skipped exon end: 4883916 | |
| Mutation start: 4883808 | |
| Mutation end: 4883808 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.P293fs | |
exon_skip_115627_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_285856_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_308974_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_328529_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_374468_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_374469_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_45545_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_49506_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_507604_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_513485_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_92194_STAD_TCGA-HU-A4G8-01.png | |
 | Sample: TCGA-D1-A174-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_285849 | |
| Skipped exon start: 4875527 | |
| Skipped exon end: 4875831 | |
| Mutation start: 4875738 | |
| Mutation end: 4875738 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.P889fs | |
exon_skip_285849_UCEC_TCGA-D1-A174-01.png | |
exon_skip_300924_UCEC_TCGA-D1-A174-01.png | |
exon_skip_307326_UCEC_TCGA-D1-A174-01.png | |
exon_skip_313700_UCEC_TCGA-D1-A174-01.png | |
exon_skip_319623_UCEC_TCGA-D1-A174-01.png | |
| - 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 |
| IM95_STOMACH | 4882979 | 4883916 | 4883438 | 4883438 | Frame_Shift_Del | C | - | p.G393fs |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4882979 | 4883916 | 4883775 | 4883775 | Frame_Shift_Del | G | - | p.P281fs |
| IM95_STOMACH | 4875527 | 4875831 | 4875598 | 4875598 | Missense_Mutation | G | T | p.L913I |
| KMS18_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4875527 | 4875831 | 4875601 | 4875601 | Missense_Mutation | C | T | p.A912T |
| MYLA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4875527 | 4875831 | 4875643 | 4875643 | Missense_Mutation | A | G | p.Y898H |
| HEC108_ENDOMETRIUM | 4875527 | 4875831 | 4875714 | 4875714 | Missense_Mutation | A | G | p.M874T |
| SKUT1_SOFT_TISSUE | 4876880 | 4877064 | 4876908 | 4876908 | Missense_Mutation | G | A | p.R725C |
| NKM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4876880 | 4877064 | 4876934 | 4876934 | Missense_Mutation | T | G | p.H716P |
| TGBC11TKB_STOMACH | 4876880 | 4877064 | 4877010 | 4877010 | Missense_Mutation | T | C | p.M691V |
| SNU1_STOMACH | 4876880 | 4877064 | 4877054 | 4877054 | Missense_Mutation | T | C | p.Q676R |
| NCIH1155_LUNG | 4876880 | 4877064 | 4877057 | 4877057 | Missense_Mutation | C | T | p.G675D |
| SNU1040_LARGE_INTESTINE | 4880353 | 4880487 | 4880403 | 4880403 | Missense_Mutation | C | T | p.R617H |
| NCIH2110_LUNG | 4882979 | 4883916 | 4882996 | 4882996 | Missense_Mutation | C | T | p.E541K |
| JHUEM7_ENDOMETRIUM | 4882979 | 4883916 | 4883068 | 4883068 | Missense_Mutation | C | T | p.E517K |
| MDST8_LARGE_INTESTINE | 4882979 | 4883916 | 4883146 | 4883146 | Missense_Mutation | C | T | p.G491R |
| HEC108_ENDOMETRIUM | 4882979 | 4883916 | 4883208 | 4883208 | Missense_Mutation | G | A | p.P470L |
| HCC2157_MATCHED_NORMAL_TISSUE | 4882979 | 4883916 | 4883275 | 4883275 | Missense_Mutation | C | T | p.D448N |
| RL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4882979 | 4883916 | 4883328 | 4883328 | Missense_Mutation | G | A | p.P430L |
| SNU175_LARGE_INTESTINE | 4882979 | 4883916 | 4883341 | 4883341 | Missense_Mutation | G | A | p.R426W |
| HCC1428_BREAST | 4882979 | 4883916 | 4883377 | 4883377 | Missense_Mutation | C | G | p.E414Q |
| HA7EBV_MATCHED_NORMAL_TISSUE | 4882979 | 4883916 | 4883400 | 4883400 | Missense_Mutation | G | T | p.A406D |
| HA7RCC_KIDNEY | 4882979 | 4883916 | 4883400 | 4883400 | Missense_Mutation | G | T | p.A406D |
| NBTU110_AUTONOMIC_GANGLIA | 4882979 | 4883916 | 4883401 | 4883401 | Missense_Mutation | C | T | p.A406T |
| HCT15_LARGE_INTESTINE | 4882979 | 4883916 | 4883405 | 4883405 | Missense_Mutation | C | A | p.E404D |
| IPC298_SKIN | 4882979 | 4883916 | 4883451 | 4883451 | Missense_Mutation | G | C | p.T389R |
| P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4882979 | 4883916 | 4883464 | 4883464 | Missense_Mutation | G | T | p.Q385K |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4882979 | 4883916 | 4883502 | 4883502 | Missense_Mutation | C | T | p.S372N |
| SW620_LARGE_INTESTINE | 4882979 | 4883916 | 4883568 | 4883568 | Missense_Mutation | G | A | p.P350L |
| MDAMB453_BREAST | 4882979 | 4883916 | 4883685 | 4883685 | Missense_Mutation | G | A | p.P311L |
| NCIH187_LUNG | 4882979 | 4883916 | 4883694 | 4883694 | Missense_Mutation | C | G | p.R308T |
| HEC59_ENDOMETRIUM | 4884973 | 4885126 | 4885074 | 4885074 | Missense_Mutation | C | T | p.C155Y |
| MCC13_SKIN | 4889487 | 4889581 | 4889496 | 4889496 | Missense_Mutation | C | T | p.E8K |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4880353 | 4880487 | 4880461 | 4880461 | Nonsense_Mutation | G | A | p.Q598* |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 4889175 | 4889278 | 4889277 | 4889277 | Splice_Site | T | C | p.E11E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CAMTA2 |
| 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_285856 | 17 | 4881798:4881925:4882978:4883916:4884519:4884654 | 4882978:4883916 | ENST00000572543.1,ENST00000381311.5,ENST00000361571.5,ENST00000358183.4,ENST00000414043.3,ENST00000348066.3,ENST00000574951.1 | TGCT | rs238234 | chr17:4883818 | C/G | 6.15e-04 |
| exon_skip_285856 | 17 | 4881798:4881925:4882978:4883916:4884519:4884654 | 4882978:4883916 | ENST00000572543.1,ENST00000381311.5,ENST00000361571.5,ENST00000358183.4,ENST00000414043.3,ENST00000348066.3,ENST00000574951.1 | TGCT | rs238234 | chr17:4883818 | C/G | 6.41e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CAMTA2 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CAMTA2 |
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RelatedDrugs for CAMTA2 |
| 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 CAMTA2 |
| 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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