Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_432979 | 4 | 170027997:170028356:170037419:170037781:170038673:170038933 | 170037419:170037781 | ENSG00000154447.10 | ENST00000284637.9 |
exon_skip_432981 | 4 | 170038673:170038933:170041969:170042140:170043250:170043350 | 170041969:170042140 | ENSG00000154447.10 | ENST00000511421.1,ENST00000508685.1,ENST00000284637.9 |
exon_skip_432982 | 4 | 170043250:170043417:170051196:170051307:170057468:170057771 | 170051196:170051307 | ENSG00000154447.10 | ENST00000508685.1,ENST00000284637.9 |
exon_skip_432983 | 4 | 170051196:170051307:170057468:170057771:170076630:170076726 | 170057468:170057771 | ENSG00000154447.10 | ENST00000511421.1,ENST00000508685.1,ENST00000284637.9 |
exon_skip_432986 | 4 | 170057468:170057771:170076630:170076726:170077554:170077808 | 170076630:170076726 | ENSG00000154447.10 | ENST00000511421.1,ENST00000508685.1,ENST00000284637.9 |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_432981 | 4 | 170038673:170038933:170041969:170042140:170043250:170043350 | 170041969:170042140 | ENSG00000154447.10 | ENST00000284637.9,ENST00000511421.1,ENST00000508685.1 |
exon_skip_432982 | 4 | 170043250:170043417:170051196:170051307:170057468:170057771 | 170051196:170051307 | ENSG00000154447.10 | ENST00000284637.9,ENST00000508685.1 |
exon_skip_432983 | 4 | 170051196:170051307:170057468:170057771:170076630:170076726 | 170057468:170057771 | ENSG00000154447.10 | ENST00000284637.9,ENST00000511421.1,ENST00000508685.1 |
exon_skip_432986 | 4 | 170057468:170057771:170076630:170076726:170077554:170077808 | 170076630:170076726 | ENSG00000154447.10 | ENST00000284637.9,ENST00000511421.1,ENST00000508685.1 |
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 |
Q7Z6J0 | 223 | 255 | 1 | 888 | Chain | ID=PRO_0000334151;Note=E3 ubiquitin-protein ligase SH3RF1 |
Q7Z6J0 | 223 | 255 | 196 | 259 | Domain | Note=SH3 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192 |
Q7Z6J0 | 255 | 356 | 1 | 888 | Chain | ID=PRO_0000334151;Note=E3 ubiquitin-protein ligase SH3RF1 |
Q7Z6J0 | 255 | 356 | 196 | 259 | Domain | Note=SH3 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192 |
Q7Z6J0 | 255 | 356 | 304 | 304 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163,ECO:0000269|PubMed:17535800;Dbxref=PMID:20068231,PMID:23186163,PMID:17535800 |
Q7Z6J0 | 255 | 356 | 304 | 304 | Mutagenesis | Note=Decreased level of phosphorylation and no change in the ability to induce apoptosis. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17535800;Dbxref=PMID:17535800 |
Q7Z6J0 | 255 | 356 | 304 | 304 | Mutagenesis | Note=Decreased level of phosphorylation and Rac-binding ability and important loss of the ability to induce apoptosis. S->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17535800;Dbxref=PMID:17535800 |
Q7Z6J0 | 255 | 356 | 304 | 304 | Mutagenesis | Note=Decreased Rac-binding ability. S->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17535800;Dbxref=PMID:17535800 |
Q7Z6J0 | 255 | 356 | 292 | 362 | Region | Note=Interaction with RAC1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20696164;Dbxref=PMID:20696164 |
Q7Z6J0 | 356 | 393 | 1 | 888 | Chain | ID=PRO_0000334151;Note=E3 ubiquitin-protein ligase SH3RF1 |
Q7Z6J0 | 356 | 393 | 292 | 362 | Region | Note=Interaction with RAC1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20696164;Dbxref=PMID:20696164 |
Q7Z6J0 | 449 | 505 | 442 | 888 | Alternative sequence | ID=VSP_033623;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q7Z6J0 | 449 | 505 | 1 | 888 | Chain | ID=PRO_0000334151;Note=E3 ubiquitin-protein ligase SH3RF1 |
Q7Z6J0 | 449 | 505 | 445 | 506 | Domain | Note=SH3 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192 |
Q7Z6J0 | 449 | 505 | 440 | 543 | Region | Note=Interaction with AKT2;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
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 |
Q7Z6J0 | 223 | 255 | 1 | 888 | Chain | ID=PRO_0000334151;Note=E3 ubiquitin-protein ligase SH3RF1 |
Q7Z6J0 | 223 | 255 | 196 | 259 | Domain | Note=SH3 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192 |
Q7Z6J0 | 255 | 356 | 1 | 888 | Chain | ID=PRO_0000334151;Note=E3 ubiquitin-protein ligase SH3RF1 |
Q7Z6J0 | 255 | 356 | 196 | 259 | Domain | Note=SH3 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192 |
Q7Z6J0 | 255 | 356 | 304 | 304 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163,ECO:0000269|PubMed:17535800;Dbxref=PMID:20068231,PMID:23186163,PMID:17535800 |
Q7Z6J0 | 255 | 356 | 304 | 304 | Mutagenesis | Note=Decreased level of phosphorylation and no change in the ability to induce apoptosis. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17535800;Dbxref=PMID:17535800 |
Q7Z6J0 | 255 | 356 | 304 | 304 | Mutagenesis | Note=Decreased level of phosphorylation and Rac-binding ability and important loss of the ability to induce apoptosis. S->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17535800;Dbxref=PMID:17535800 |
Q7Z6J0 | 255 | 356 | 304 | 304 | Mutagenesis | Note=Decreased Rac-binding ability. S->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17535800;Dbxref=PMID:17535800 |
Q7Z6J0 | 255 | 356 | 292 | 362 | Region | Note=Interaction with RAC1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20696164;Dbxref=PMID:20696164 |
Q7Z6J0 | 356 | 393 | 1 | 888 | Chain | ID=PRO_0000334151;Note=E3 ubiquitin-protein ligase SH3RF1 |
Q7Z6J0 | 356 | 393 | 292 | 362 | Region | Note=Interaction with RAC1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20696164;Dbxref=PMID:20696164 |
Q7Z6J0 | 449 | 505 | 442 | 888 | Alternative sequence | ID=VSP_033623;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q7Z6J0 | 449 | 505 | 1 | 888 | Chain | ID=PRO_0000334151;Note=E3 ubiquitin-protein ligase SH3RF1 |
Q7Z6J0 | 449 | 505 | 445 | 506 | Domain | Note=SH3 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192 |
Q7Z6J0 | 449 | 505 | 440 | 543 | Region | Note=Interaction with AKT2;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Depth of coverage in three exons | Mutation description |
| Sample: TCGA-IB-7651-01 |
Cancer type: PAAD |
ESID: exon_skip_432982 |
Skipped exon start: 170051197 |
Skipped exon end: 170051307 |
Mutation start: 170051308 |
Mutation end: 170051308 |
Mutation type: Splice_Site |
Reference seq: C |
Mutation seq: T |
AAchange: . |
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