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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 COBLL1 |
 Gene summary |
| Gene information | Gene symbol | COBLL1 | Gene ID | 22837 |
| Gene name | cordon-bleu WH2 repeat protein like 1 | |
| Synonyms | COBLR1 | |
| Cytomap | 2q24.3 | |
| Type of gene | protein-coding | |
| Description | cordon-bleu protein-like 1COBL-like 1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q53SF7 | |
| Context | PubMed: COBLL1 [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 COBLL1 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 COBLL1 |
| 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 COBLL1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_344506 | 2 | 165548730:165548907:165550778:165552343:165555914:165556009 | 165550778:165552343 | ENSG00000082438.11 | ENST00000342193.4,ENST00000392717.2 |
| exon_skip_344507 | 2 | 165548730:165548907:165550778:165552346:165555914:165556009 | 165550778:165552346 | ENSG00000082438.11 | ENST00000194871.6,ENST00000375458.2,ENST00000409184.3,ENST00000493868.1 |
| exon_skip_344511 | 2 | 165555914:165556009:165557031:165557266:165560953:165561028 | 165557031:165557266 | ENSG00000082438.11 | ENST00000375458.2,ENST00000409184.3,ENST00000493868.1 |
| exon_skip_344512 | 2 | 165557187:165557266:165559613:165559730:165560953:165561028 | 165559613:165559730 | ENSG00000082438.11 | ENST00000342193.4,ENST00000194871.6,ENST00000392717.2 |
| exon_skip_344516 | 2 | 165559613:165559730:165560137:165560181:165560953:165561028 | 165560137:165560181 | ENSG00000082438.11 | ENST00000456171.1 |
| exon_skip_344519 | 2 | 165561461:165561615:165578584:165578821:165578934:165579001 | 165578584:165578821 | ENSG00000082438.11 | ENST00000342193.4,ENST00000456171.1,ENST00000194871.6,ENST00000375458.2,ENST00000392717.2,ENST00000409184.3,ENST00000493868.1 |
| exon_skip_344521 | 2 | 165561461:165561615:165600196:165600385:165697665:165697731 | 165600196:165600385 | ENSG00000082438.11 | ENST00000434366.1 |
| exon_skip_344523 | 2 | 165579001:165579032:165583615:165583654:165584478:165584551 | 165583615:165583654 | ENSG00000082438.11 | ENST00000456171.1,ENST00000456693.1,ENST00000194871.6 |
| exon_skip_344524 | 2 | 165586569:165586625:165600196:165600385:165636164:165636295 | 165600196:165600385 | ENSG00000082438.11 | ENST00000444537.1 |
| exon_skip_344525 | 2 | 165586569:165586625:165600196:165600385:165697665:165697731 | 165600196:165600385 | ENSG00000082438.11 | ENST00000342193.4,ENST00000456171.1,ENST00000448708.1,ENST00000375458.2,ENST00000414843.1,ENST00000392717.2,ENST00000409184.3 |
| exon_skip_344529 | 2 | 165600196:165600385:165617792:165617963:165628453:165628556 | 165617792:165617963 | ENSG00000082438.11 | ENST00000493921.1 |
| exon_skip_344533 | 2 | 165600196:165600385:165636164:165636295:165697665:165697731 | 165636164:165636295 | ENSG00000082438.11 | ENST00000444537.1 |
| exon_skip_344535 | 2 | 165600196:165600385:165657043:165657064:165697665:165697731 | 165657043:165657064 | ENSG00000082438.11 | ENST00000445474.2,ENST00000194871.6 |
| exon_skip_344537 | 2 | 165600196:165600385:165693937:165694008:165697665:165697731 | 165693937:165694008 | ENSG00000082438.11 | ENST00000439313.1 |
| exon_skip_344538 | 2 | 165600196:165600385:165697665:165697756:165700161:165700189 | 165697665:165697756 | ENSG00000082438.11 | ENST00000448708.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for COBLL1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_344506 | 2 | 165548730:165548907:165550778:165552343:165555914:165556009 | 165550778:165552343 | ENSG00000082438.11 | ENST00000342193.4,ENST00000392717.2 |
| exon_skip_344507 | 2 | 165548730:165548907:165550778:165552346:165555914:165556009 | 165550778:165552346 | ENSG00000082438.11 | ENST00000375458.2,ENST00000409184.3,ENST00000493868.1,ENST00000194871.6 |
| exon_skip_344511 | 2 | 165555914:165556009:165557031:165557266:165560953:165561028 | 165557031:165557266 | ENSG00000082438.11 | ENST00000375458.2,ENST00000409184.3,ENST00000493868.1 |
| exon_skip_344512 | 2 | 165557187:165557266:165559613:165559730:165560953:165561028 | 165559613:165559730 | ENSG00000082438.11 | ENST00000342193.4,ENST00000392717.2,ENST00000194871.6 |
| exon_skip_344516 | 2 | 165559613:165559730:165560137:165560181:165560953:165561028 | 165560137:165560181 | ENSG00000082438.11 | ENST00000456171.1 |
| exon_skip_344519 | 2 | 165561461:165561615:165578584:165578821:165578934:165579001 | 165578584:165578821 | ENSG00000082438.11 | ENST00000375458.2,ENST00000342193.4,ENST00000409184.3,ENST00000392717.2,ENST00000493868.1,ENST00000194871.6,ENST00000456171.1 |
| exon_skip_344521 | 2 | 165561461:165561615:165600196:165600385:165697665:165697731 | 165600196:165600385 | ENSG00000082438.11 | ENST00000434366.1 |
| exon_skip_344523 | 2 | 165579001:165579032:165583615:165583654:165584478:165584551 | 165583615:165583654 | ENSG00000082438.11 | ENST00000194871.6,ENST00000456171.1,ENST00000456693.1 |
| exon_skip_344524 | 2 | 165586569:165586625:165600196:165600385:165636164:165636295 | 165600196:165600385 | ENSG00000082438.11 | ENST00000444537.1 |
| exon_skip_344525 | 2 | 165586569:165586625:165600196:165600385:165697665:165697731 | 165600196:165600385 | ENSG00000082438.11 | ENST00000375458.2,ENST00000342193.4,ENST00000409184.3,ENST00000392717.2,ENST00000456171.1,ENST00000448708.1,ENST00000414843.1 |
| exon_skip_344533 | 2 | 165600196:165600385:165636164:165636295:165697665:165697731 | 165636164:165636295 | ENSG00000082438.11 | ENST00000444537.1 |
| exon_skip_344535 | 2 | 165600196:165600385:165657043:165657064:165697665:165697731 | 165657043:165657064 | ENSG00000082438.11 | ENST00000194871.6,ENST00000445474.2 |
| exon_skip_344537 | 2 | 165600196:165600385:165693937:165694008:165697665:165697731 | 165693937:165694008 | ENSG00000082438.11 | ENST00000439313.1 |
| 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 COBLL1 |
| 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 |
| ENST00000392717 | 165550778 | 165552343 | Frame-shift |
| ENST00000392717 | 165559613 | 165559730 | In-frame |
| ENST00000392717 | 165578584 | 165578821 | In-frame |
| ENST00000392717 | 165600196 | 165600385 | 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 |
| ENST00000392717 | 165550778 | 165552343 | Frame-shift |
| ENST00000392717 | 165559613 | 165559730 | In-frame |
| ENST00000392717 | 165578584 | 165578821 | In-frame |
| ENST00000392717 | 165600196 | 165600385 | In-frame |
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Infer the effects of exon skipping event on protein functional features for COBLL1 |
| 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 |
| ENST00000392717 | 4766 | 1204 | 165600196 | 165600385 | 161 | 349 | 52 | 114 |
| ENST00000392717 | 4766 | 1204 | 165578584 | 165578821 | 879 | 1115 | 291 | 370 |
| ENST00000392717 | 4766 | 1204 | 165559613 | 165559730 | 1345 | 1461 | 446 | 485 |
| 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 |
| ENST00000392717 | 4766 | 1204 | 165600196 | 165600385 | 161 | 349 | 52 | 114 |
| ENST00000392717 | 4766 | 1204 | 165578584 | 165578821 | 879 | 1115 | 291 | 370 |
| ENST00000392717 | 4766 | 1204 | 165559613 | 165559730 | 1345 | 1461 | 446 | 485 |
| 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 |
| Q53SF7 | 52 | 114 | 1 | 1204 | Chain | ID=PRO_0000260493;Note=Cordon-bleu protein-like 1 |
| Q53SF7 | 291 | 370 | 145 | 1204 | Alternative sequence | ID=VSP_021623;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q53SF7 | 291 | 370 | 1 | 1204 | Chain | ID=PRO_0000260493;Note=Cordon-bleu protein-like 1 |
| Q53SF7 | 291 | 370 | 294 | 294 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:24275569;Dbxref=PMID:16964243,PMID:18669648,PMID:20068231,PMID |
| Q53SF7 | 291 | 370 | 298 | 298 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:24275569;Dbxref=PMID:16964243,PMID:18669648,PMID:24275569 |
| Q53SF7 | 291 | 370 | 311 | 311 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q53SF7 | 291 | 370 | 322 | 322 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q53SF7 | 291 | 370 | 364 | 364 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q3UMF0 |
| Q53SF7 | 291 | 370 | 329 | 334 | Motif | Note=KKRRAP 1 |
| Q53SF7 | 291 | 370 | 368 | 368 | Sequence conflict | Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q53SF7 | 446 | 485 | 145 | 1204 | Alternative sequence | ID=VSP_021623;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q53SF7 | 446 | 485 | 447 | 486 | Alternative sequence | ID=VSP_021624;Note=In isoform 2 and isoform 4. ETFHPGLSSQEQCTAPKLMEETSVFECPGTPEAAITSLTS->A;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005,ECO:0000303|Ref.2;Dbxref=PMID:15489334,PMID:17974 |
| Q53SF7 | 446 | 485 | 1 | 1204 | Chain | ID=PRO_0000260493;Note=Cordon-bleu protein-like 1 |
| 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 |
| Q53SF7 | 52 | 114 | 1 | 1204 | Chain | ID=PRO_0000260493;Note=Cordon-bleu protein-like 1 |
| Q53SF7 | 291 | 370 | 145 | 1204 | Alternative sequence | ID=VSP_021623;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q53SF7 | 291 | 370 | 1 | 1204 | Chain | ID=PRO_0000260493;Note=Cordon-bleu protein-like 1 |
| Q53SF7 | 291 | 370 | 294 | 294 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:24275569;Dbxref=PMID:16964243,PMID:18669648,PMID:20068231,PMID |
| Q53SF7 | 291 | 370 | 298 | 298 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:24275569;Dbxref=PMID:16964243,PMID:18669648,PMID:24275569 |
| Q53SF7 | 291 | 370 | 311 | 311 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q53SF7 | 291 | 370 | 322 | 322 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q53SF7 | 291 | 370 | 364 | 364 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q3UMF0 |
| Q53SF7 | 291 | 370 | 329 | 334 | Motif | Note=KKRRAP 1 |
| Q53SF7 | 291 | 370 | 368 | 368 | Sequence conflict | Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q53SF7 | 446 | 485 | 145 | 1204 | Alternative sequence | ID=VSP_021623;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q53SF7 | 446 | 485 | 447 | 486 | Alternative sequence | ID=VSP_021624;Note=In isoform 2 and isoform 4. ETFHPGLSSQEQCTAPKLMEETSVFECPGTPEAAITSLTS->A;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005,ECO:0000303|Ref.2;Dbxref=PMID:15489334,PMID:17974 |
| Q53SF7 | 446 | 485 | 1 | 1204 | Chain | ID=PRO_0000260493;Note=Cordon-bleu protein-like 1 |
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SNVs in the skipped exons for COBLL1 |
| - 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. |
COBLL1_CESC_exon_skip_344506_psi_boxplot.png |
COBLL1_CESC_exon_skip_344507_psi_boxplot.png |
COBLL1_ESCA_exon_skip_344506_psi_boxplot.png |
COBLL1_ESCA_exon_skip_344507_psi_boxplot.png |
COBLL1_HNSC_exon_skip_344506_psi_boxplot.png |
COBLL1_HNSC_exon_skip_344507_psi_boxplot.png |
COBLL1_LIHC_exon_skip_344506_psi_boxplot.png |
COBLL1_LIHC_exon_skip_344507_psi_boxplot.png |
COBLL1_READ_exon_skip_344506_psi_boxplot.png |
COBLL1_READ_exon_skip_344507_psi_boxplot.png |
COBLL1_STAD_exon_skip_344506_psi_boxplot.png |
COBLL1_STAD_exon_skip_344507_psi_boxplot.png |
COBLL1_UCS_exon_skip_344507_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 |
| STAD | TCGA-CG-4437-01 | exon_skip_344506 | 165550779 | 165552343 | 165550830 | 165550830 | Frame_Shift_Del | A | - | p.H1063fs |
| STAD | TCGA-CG-4437-01 | exon_skip_344507 | 165550779 | 165552346 | 165550830 | 165550830 | Frame_Shift_Del | A | - | p.H1063fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_344506 | 165550779 | 165552343 | 165550985 | 165550985 | Frame_Shift_Del | T | - | p.T973fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_344507 | 165550779 | 165552346 | 165550985 | 165550985 | Frame_Shift_Del | T | - | p.T973fs |
| ESCA | TCGA-L5-A43J-01 | exon_skip_344506 | 165550779 | 165552343 | 165551296 | 165551296 | Frame_Shift_Del | A | - | p.L869fs |
| ESCA | TCGA-L5-A43J-01 | exon_skip_344506 | 165550779 | 165552343 | 165551296 | 165551296 | Frame_Shift_Del | A | - | p.L974fs |
| ESCA | TCGA-L5-A43J-01 | exon_skip_344507 | 165550779 | 165552346 | 165551296 | 165551296 | Frame_Shift_Del | A | - | p.L869fs |
| ESCA | TCGA-L5-A43J-01 | exon_skip_344507 | 165550779 | 165552346 | 165551296 | 165551296 | Frame_Shift_Del | A | - | p.L974fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_344506 | 165550779 | 165552343 | 165551296 | 165551297 | Frame_Shift_Del | AA | - | p.907_907del |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_344506 | 165550779 | 165552343 | 165551296 | 165551297 | Frame_Shift_Del | AA | - | p.L974fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_344507 | 165550779 | 165552346 | 165551296 | 165551297 | Frame_Shift_Del | AA | - | p.907_907del |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_344507 | 165550779 | 165552346 | 165551296 | 165551297 | Frame_Shift_Del | AA | - | p.L974fs |
| ESCA | TCGA-Z6-A9VB-01 | exon_skip_344506 | 165550779 | 165552343 | 165551296 | 165551296 | Frame_Shift_Del | A | - | p.L974fs |
| ESCA | TCGA-Z6-A9VB-01 | exon_skip_344507 | 165550779 | 165552346 | 165551296 | 165551296 | Frame_Shift_Del | A | - | p.L974fs |
| HNSC | TCGA-CN-5369-01 | exon_skip_344506 | 165550779 | 165552343 | 165551296 | 165551296 | Frame_Shift_Del | A | - | p.L869fs |
| HNSC | TCGA-CN-5369-01 | exon_skip_344507 | 165550779 | 165552346 | 165551296 | 165551296 | Frame_Shift_Del | A | - | p.L869fs |
| STAD | TCGA-BR-8591-01 | exon_skip_344506 | 165550779 | 165552343 | 165551296 | 165551297 | Frame_Shift_Del | AA | - | p.907_907del |
| STAD | TCGA-BR-8591-01 | exon_skip_344507 | 165550779 | 165552346 | 165551296 | 165551297 | Frame_Shift_Del | AA | - | p.907_907del |
| STAD | TCGA-CD-A4MI-01 | exon_skip_344506 | 165550779 | 165552343 | 165551296 | 165551297 | Frame_Shift_Del | AA | - | p.907_907del |
| STAD | TCGA-CD-A4MI-01 | exon_skip_344507 | 165550779 | 165552346 | 165551296 | 165551297 | Frame_Shift_Del | AA | - | p.907_907del |
| UCEC | TCGA-AP-A05N-01 | exon_skip_344506 | 165550779 | 165552343 | 165551296 | 165551296 | Frame_Shift_Del | A | - | p.L907fs |
| UCEC | TCGA-AP-A05N-01 | exon_skip_344507 | 165550779 | 165552346 | 165551296 | 165551296 | Frame_Shift_Del | A | - | p.L907fs |
| UCEC | TCGA-BS-A0UL-01 | exon_skip_344506 | 165550779 | 165552343 | 165551296 | 165551296 | Frame_Shift_Del | A | - | p.L907fs |
| UCEC | TCGA-BS-A0UL-01 | exon_skip_344507 | 165550779 | 165552346 | 165551296 | 165551296 | Frame_Shift_Del | A | - | p.L907fs |
| UCEC | TCGA-D1-A174-01 | exon_skip_344506 | 165550779 | 165552343 | 165551296 | 165551296 | Frame_Shift_Del | A | - | p.L907fs |
| UCEC | TCGA-D1-A174-01 | exon_skip_344507 | 165550779 | 165552346 | 165551296 | 165551296 | Frame_Shift_Del | A | - | p.L907fs |
| LGG | TCGA-DU-A6S7-01 | exon_skip_344506 | 165550779 | 165552343 | 165551407 | 165551408 | Frame_Shift_Del | TC | - | p.D832fs |
| LGG | TCGA-DU-A6S7-01 | exon_skip_344507 | 165550779 | 165552346 | 165551407 | 165551408 | Frame_Shift_Del | TC | - | p.D832fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_344506 | 165550779 | 165552343 | 165551602 | 165551602 | Frame_Shift_Del | T | - | p.K767fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_344507 | 165550779 | 165552346 | 165551602 | 165551602 | Frame_Shift_Del | T | - | p.K767fs |
| STAD | TCGA-BR-8078-01 | exon_skip_344506 | 165550779 | 165552343 | 165551602 | 165551602 | Frame_Shift_Del | T | - | p.K805fs |
| STAD | TCGA-BR-8078-01 | exon_skip_344507 | 165550779 | 165552346 | 165551602 | 165551602 | Frame_Shift_Del | T | - | p.K805fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_344506 | 165550779 | 165552343 | 165551660 | 165551660 | Frame_Shift_Del | A | - | p.W748fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_344507 | 165550779 | 165552346 | 165551660 | 165551660 | Frame_Shift_Del | A | - | p.W748fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_344506 | 165550779 | 165552343 | 165551696 | 165551696 | Frame_Shift_Del | T | - | p.I736fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_344507 | 165550779 | 165552346 | 165551696 | 165551696 | Frame_Shift_Del | T | - | p.I736fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_344506 | 165550779 | 165552343 | 165551880 | 165551880 | Frame_Shift_Del | T | - | p.K674fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_344507 | 165550779 | 165552346 | 165551880 | 165551880 | Frame_Shift_Del | T | - | p.K674fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_344506 | 165550779 | 165552343 | 165552292 | 165552292 | Frame_Shift_Del | T | - | p.N537fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_344507 | 165550779 | 165552346 | 165552292 | 165552292 | Frame_Shift_Del | T | - | p.N537fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_344511 | 165557032 | 165557266 | 165557045 | 165557045 | Frame_Shift_Del | T | - | p.S483fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_344511 | 165557032 | 165557266 | 165557180 | 165557180 | Frame_Shift_Del | A | - | p.S438fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_344519 | 165578585 | 165578821 | 165578633 | 165578633 | Frame_Shift_Del | C | - | p.R316fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_344519 | 165578585 | 165578821 | 165578685 | 165578685 | Frame_Shift_Del | G | - | p.P299fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_344519 | 165578585 | 165578821 | 165578771 | 165578771 | Frame_Shift_Del | A | - | p.F270fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_344519 | 165578585 | 165578821 | 165578799 | 165578799 | Frame_Shift_Del | G | - | p.P261fs |
| PAAD | TCGA-XD-AAUH-01 | exon_skip_344506 | 165550779 | 165552343 | 165551295 | 165551296 | Frame_Shift_Ins | - | A | p.S869fs |
| PAAD | TCGA-XD-AAUH-01 | exon_skip_344507 | 165550779 | 165552346 | 165551295 | 165551296 | Frame_Shift_Ins | - | A | p.S869fs |
| SARC | TCGA-3B-A9HO-01 | exon_skip_344506 | 165550779 | 165552343 | 165551295 | 165551296 | Frame_Shift_Ins | - | A | p.S869fs |
| SARC | TCGA-3B-A9HO-01 | exon_skip_344507 | 165550779 | 165552346 | 165551295 | 165551296 | Frame_Shift_Ins | - | A | p.S869fs |
| SARC | TCGA-DX-AB2V-01 | exon_skip_344506 | 165550779 | 165552343 | 165551295 | 165551296 | Frame_Shift_Ins | - | A | p.L974fs |
| SARC | TCGA-DX-AB2V-01 | exon_skip_344507 | 165550779 | 165552346 | 165551295 | 165551296 | Frame_Shift_Ins | - | A | p.L974fs |
| HNSC | TCGA-D6-6825-01 | exon_skip_344506 | 165550779 | 165552343 | 165551294 | 165551294 | Nonsense_Mutation | G | A | p.Q870* |
| HNSC | TCGA-D6-6825-01 | exon_skip_344506 | 165550779 | 165552343 | 165551294 | 165551294 | Nonsense_Mutation | G | A | p.Q975* |
| HNSC | TCGA-D6-6825-01 | exon_skip_344507 | 165550779 | 165552346 | 165551294 | 165551294 | Nonsense_Mutation | G | A | p.Q870* |
| HNSC | TCGA-D6-6825-01 | exon_skip_344507 | 165550779 | 165552346 | 165551294 | 165551294 | Nonsense_Mutation | G | A | p.Q975* |
| BLCA | TCGA-ZF-AA53-01 | exon_skip_344506 | 165550779 | 165552343 | 165551329 | 165551329 | Nonsense_Mutation | G | C | p.S858* |
| BLCA | TCGA-ZF-AA53-01 | exon_skip_344507 | 165550779 | 165552346 | 165551329 | 165551329 | Nonsense_Mutation | G | C | p.S858* |
| COAD | TCGA-A6-6141-01 | exon_skip_344506 | 165550779 | 165552343 | 165551579 | 165551579 | Nonsense_Mutation | C | A | p.E813X |
| COAD | TCGA-A6-6141-01 | exon_skip_344507 | 165550779 | 165552346 | 165551579 | 165551579 | Nonsense_Mutation | C | A | p.E813X |
| READ | TCGA-EI-6917-01 | exon_skip_344506 | 165550779 | 165552343 | 165551579 | 165551579 | Nonsense_Mutation | C | A | p.E813X |
| READ | TCGA-EI-6917-01 | exon_skip_344507 | 165550779 | 165552346 | 165551579 | 165551579 | Nonsense_Mutation | C | A | p.E813X |
| UCS | TCGA-ND-A4WC-01 | exon_skip_344506 | 165550779 | 165552343 | 165551579 | 165551579 | Nonsense_Mutation | C | A | p.E775* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_344506 | 165550779 | 165552343 | 165551579 | 165551579 | Nonsense_Mutation | C | A | p.E813X |
| UCS | TCGA-ND-A4WC-01 | exon_skip_344507 | 165550779 | 165552346 | 165551579 | 165551579 | Nonsense_Mutation | C | A | p.E775* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_344507 | 165550779 | 165552346 | 165551579 | 165551579 | Nonsense_Mutation | C | A | p.E813X |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_344506 | 165550779 | 165552343 | 165551735 | 165551735 | Nonsense_Mutation | G | A | p.R761* |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_344507 | 165550779 | 165552346 | 165551735 | 165551735 | Nonsense_Mutation | G | A | p.R761* |
| CESC | TCGA-DS-A1OB-01 | exon_skip_344506 | 165550779 | 165552343 | 165552125 | 165552125 | Nonsense_Mutation | G | A | p.Q593* |
| CESC | TCGA-DS-A1OB-01 | exon_skip_344507 | 165550779 | 165552346 | 165552125 | 165552125 | Nonsense_Mutation | G | A | p.Q593* |
| READ | TCGA-AG-A002-01 | exon_skip_344506 | 165550779 | 165552343 | 165552275 | 165552275 | Nonsense_Mutation | C | A | p.E581X |
| READ | TCGA-AG-A002-01 | exon_skip_344507 | 165550779 | 165552346 | 165552275 | 165552275 | Nonsense_Mutation | C | A | p.E581X |
| UCEC | TCGA-AX-A0J0-01 | exon_skip_344511 | 165557032 | 165557266 | 165557219 | 165557219 | Nonsense_Mutation | C | A | p.E464* |
| CESC | TCGA-DR-A0ZM-01 | exon_skip_344519 | 165578585 | 165578821 | 165578671 | 165578671 | Nonsense_Mutation | G | A | p.Q304* |
| CESC | TCGA-DR-A0ZM-01 | exon_skip_344519 | 165578585 | 165578821 | 165578671 | 165578671 | Nonsense_Mutation | G | A | p.Q370* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-L5-A43J-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_344506 | |
| Skipped exon start: 165550779 | |
| Skipped exon end: 165552343 | |
| Mutation start: 165551296 | |
| Mutation end: 165551296 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.L869fs | |
| Sample: TCGA-L5-A43J-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_344507 | |
| Skipped exon start: 165550779 | |
| Skipped exon end: 165552346 | |
| Mutation start: 165551296 | |
| Mutation end: 165551296 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.L869fs | |
| Sample: TCGA-L5-A43J-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_344506 | |
| Skipped exon start: 165550779 | |
| Skipped exon end: 165552343 | |
| Mutation start: 165551296 | |
| Mutation end: 165551296 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.L974fs | |
| Sample: TCGA-L5-A43J-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_344507 | |
| Skipped exon start: 165550779 | |
| Skipped exon end: 165552346 | |
| Mutation start: 165551296 | |
| Mutation end: 165551296 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.L974fs | |
exon_skip_131502_ESCA_TCGA-L5-A43J-01.png | |
exon_skip_142268_ESCA_TCGA-L5-A43J-01.png | |
exon_skip_30909_ESCA_TCGA-L5-A43J-01.png | |
exon_skip_30910_ESCA_TCGA-L5-A43J-01.png | |
exon_skip_30912_ESCA_TCGA-L5-A43J-01.png | |
exon_skip_319572_ESCA_TCGA-L5-A43J-01.png | |
exon_skip_325050_ESCA_TCGA-L5-A43J-01.png | |
exon_skip_342500_ESCA_TCGA-L5-A43J-01.png | |
exon_skip_343170_ESCA_TCGA-L5-A43J-01.png | |
exon_skip_344507_ESCA_TCGA-L5-A43J-01.png | |
exon_skip_390317_ESCA_TCGA-L5-A43J-01.png | |
exon_skip_390320_ESCA_TCGA-L5-A43J-01.png | |
exon_skip_390321_ESCA_TCGA-L5-A43J-01.png | |
exon_skip_445696_ESCA_TCGA-L5-A43J-01.png | |
exon_skip_467372_ESCA_TCGA-L5-A43J-01.png | |
exon_skip_489594_ESCA_TCGA-L5-A43J-01.png | |
exon_skip_500520_ESCA_TCGA-L5-A43J-01.png | |
exon_skip_504965_ESCA_TCGA-L5-A43J-01.png | |
exon_skip_71341_ESCA_TCGA-L5-A43J-01.png | |
 | Sample: TCGA-Z6-A9VB-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_344506 | |
| Skipped exon start: 165550779 | |
| Skipped exon end: 165552343 | |
| Mutation start: 165551296 | |
| Mutation end: 165551296 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.L974fs | |
| Sample: TCGA-Z6-A9VB-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_344507 | |
| Skipped exon start: 165550779 | |
| Skipped exon end: 165552346 | |
| Mutation start: 165551296 | |
| Mutation end: 165551296 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.L974fs | |
exon_skip_344506_ESCA_TCGA-Z6-A9VB-01.png | |
exon_skip_344507_ESCA_TCGA-Z6-A9VB-01.png | |
exon_skip_49506_ESCA_TCGA-Z6-A9VB-01.png | |
 | Sample: TCGA-BR-8591-01 |
| Cancer type: STAD | |
| ESID: exon_skip_344506 | |
| Skipped exon start: 165550779 | |
| Skipped exon end: 165552343 | |
| Mutation start: 165551296 | |
| Mutation end: 165551297 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: AA | |
| Mutation seq: - | |
| AAchange: p.907_907del | |
| Sample: TCGA-BR-8591-01 |
| Cancer type: STAD | |
| ESID: exon_skip_344507 | |
| Skipped exon start: 165550779 | |
| Skipped exon end: 165552346 | |
| Mutation start: 165551296 | |
| Mutation end: 165551297 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: AA | |
| Mutation seq: - | |
| AAchange: p.907_907del | |
exon_skip_139886_STAD_TCGA-BR-8591-01.png | |
exon_skip_22733_STAD_TCGA-BR-8591-01.png | |
exon_skip_344506_STAD_TCGA-BR-8591-01.png | |
exon_skip_344507_STAD_TCGA-BR-8591-01.png | |
exon_skip_347690_STAD_TCGA-BR-8591-01.png | |
exon_skip_461353_STAD_TCGA-BR-8591-01.png | |
exon_skip_462689_STAD_TCGA-BR-8591-01.png | |
exon_skip_463441_STAD_TCGA-BR-8591-01.png | |
exon_skip_468148_STAD_TCGA-BR-8591-01.png | |
exon_skip_468149_STAD_TCGA-BR-8591-01.png | |
exon_skip_487281_STAD_TCGA-BR-8591-01.png | |
exon_skip_496407_STAD_TCGA-BR-8591-01.png | |
exon_skip_508189_STAD_TCGA-BR-8591-01.png | |
exon_skip_84502_STAD_TCGA-BR-8591-01.png | |
 | Sample: TCGA-L5-A43J-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_344506 | |
| Skipped exon start: 165550779 | |
| Skipped exon end: 165552343 | |
| Mutation start: 165551296 | |
| Mutation end: 165551296 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.L869fs | |
| Sample: TCGA-L5-A43J-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_344507 | |
| Skipped exon start: 165550779 | |
| Skipped exon end: 165552346 | |
| Mutation start: 165551296 | |
| Mutation end: 165551296 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.L869fs | |
| Sample: TCGA-L5-A43J-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_344506 | |
| Skipped exon start: 165550779 | |
| Skipped exon end: 165552343 | |
| Mutation start: 165551296 | |
| Mutation end: 165551296 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.L974fs | |
| Sample: TCGA-L5-A43J-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_344507 | |
| Skipped exon start: 165550779 | |
| Skipped exon end: 165552346 | |
| Mutation start: 165551296 | |
| Mutation end: 165551296 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.L974fs | |
| exon_skip_131502_ESCA_TCGA-L5-A43J-01.png | |
| exon_skip_142268_ESCA_TCGA-L5-A43J-01.png | |
| exon_skip_30909_ESCA_TCGA-L5-A43J-01.png | |
| exon_skip_30910_ESCA_TCGA-L5-A43J-01.png | |
| exon_skip_30912_ESCA_TCGA-L5-A43J-01.png | |
| exon_skip_319572_ESCA_TCGA-L5-A43J-01.png | |
| exon_skip_325050_ESCA_TCGA-L5-A43J-01.png | |
| exon_skip_342500_ESCA_TCGA-L5-A43J-01.png | |
| exon_skip_343170_ESCA_TCGA-L5-A43J-01.png | |
| exon_skip_344507_ESCA_TCGA-L5-A43J-01.png | |
| exon_skip_390317_ESCA_TCGA-L5-A43J-01.png | |
| exon_skip_390320_ESCA_TCGA-L5-A43J-01.png | |
| exon_skip_390321_ESCA_TCGA-L5-A43J-01.png | |
| exon_skip_445696_ESCA_TCGA-L5-A43J-01.png | |
| exon_skip_467372_ESCA_TCGA-L5-A43J-01.png | |
| exon_skip_489594_ESCA_TCGA-L5-A43J-01.png | |
| exon_skip_500520_ESCA_TCGA-L5-A43J-01.png | |
| exon_skip_504965_ESCA_TCGA-L5-A43J-01.png | |
| exon_skip_71341_ESCA_TCGA-L5-A43J-01.png | |
 | Sample: TCGA-Z6-A9VB-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_344506 | |
| Skipped exon start: 165550779 | |
| Skipped exon end: 165552343 | |
| Mutation start: 165551296 | |
| Mutation end: 165551296 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.L974fs | |
| Sample: TCGA-Z6-A9VB-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_344507 | |
| Skipped exon start: 165550779 | |
| Skipped exon end: 165552346 | |
| Mutation start: 165551296 | |
| Mutation end: 165551296 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.L974fs | |
| exon_skip_344506_ESCA_TCGA-Z6-A9VB-01.png | |
| exon_skip_344507_ESCA_TCGA-Z6-A9VB-01.png | |
| exon_skip_49506_ESCA_TCGA-Z6-A9VB-01.png | |
 | Sample: TCGA-BR-8591-01 |
| Cancer type: STAD | |
| ESID: exon_skip_344506 | |
| Skipped exon start: 165550779 | |
| Skipped exon end: 165552343 | |
| Mutation start: 165551296 | |
| Mutation end: 165551297 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: AA | |
| Mutation seq: - | |
| AAchange: p.907_907del | |
| Sample: TCGA-BR-8591-01 |
| Cancer type: STAD | |
| ESID: exon_skip_344507 | |
| Skipped exon start: 165550779 | |
| Skipped exon end: 165552346 | |
| Mutation start: 165551296 | |
| Mutation end: 165551297 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: AA | |
| Mutation seq: - | |
| AAchange: p.907_907del | |
| exon_skip_139886_STAD_TCGA-BR-8591-01.png | |
| exon_skip_22733_STAD_TCGA-BR-8591-01.png | |
| exon_skip_344506_STAD_TCGA-BR-8591-01.png | |
| exon_skip_344507_STAD_TCGA-BR-8591-01.png | |
| exon_skip_347690_STAD_TCGA-BR-8591-01.png | |
| exon_skip_461353_STAD_TCGA-BR-8591-01.png | |
| exon_skip_462689_STAD_TCGA-BR-8591-01.png | |
| exon_skip_463441_STAD_TCGA-BR-8591-01.png | |
| exon_skip_468148_STAD_TCGA-BR-8591-01.png | |
| exon_skip_468149_STAD_TCGA-BR-8591-01.png | |
| exon_skip_487281_STAD_TCGA-BR-8591-01.png | |
| exon_skip_496407_STAD_TCGA-BR-8591-01.png | |
| exon_skip_508189_STAD_TCGA-BR-8591-01.png | |
| exon_skip_84502_STAD_TCGA-BR-8591-01.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 |
| GP5D_LARGE_INTESTINE | 165550779 | 165552343 | 165551296 | 165551297 | Frame_Shift_Del | AA | - | p.L945fs |
| GP5D_LARGE_INTESTINE | 165550779 | 165552346 | 165551296 | 165551297 | Frame_Shift_Del | AA | - | p.L945fs |
| FU97_STOMACH | 165550779 | 165552343 | 165551964 | 165551971 | Frame_Shift_Del | ACTTAAGC | - | p.CLS720fs |
| FU97_STOMACH | 165550779 | 165552346 | 165551964 | 165551971 | Frame_Shift_Del | ACTTAAGC | - | p.CLS720fs |
| HEC59_ENDOMETRIUM | 165550779 | 165552343 | 165551101 | 165551102 | Frame_Shift_Ins | - | T | p.T1010fs |
| HEC59_ENDOMETRIUM | 165550779 | 165552346 | 165551101 | 165551102 | Frame_Shift_Ins | - | T | p.T1010fs |
| DV90_LUNG | 165550779 | 165552343 | 165551295 | 165551296 | Frame_Shift_Ins | - | AA | p.L945fs |
| DV90_LUNG | 165550779 | 165552346 | 165551295 | 165551296 | Frame_Shift_Ins | - | AA | p.L945fs |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 165550779 | 165552343 | 165551850 | 165551852 | In_Frame_Del | ATC | - | p.D760del |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 165550779 | 165552346 | 165551850 | 165551852 | In_Frame_Del | ATC | - | p.D760del |
| TOV112D_OVARY | 165550779 | 165552343 | 165550894 | 165550894 | Missense_Mutation | C | T | p.R1079H |
| TOV112D_OVARY | 165550779 | 165552346 | 165550894 | 165550894 | Missense_Mutation | C | T | p.R1079H |
| LNCAPCLONEFGC_PROSTATE | 165550779 | 165552343 | 165550954 | 165550954 | Missense_Mutation | G | T | p.S1059Y |
| LNCAPCLONEFGC_PROSTATE | 165550779 | 165552346 | 165550954 | 165550954 | Missense_Mutation | G | T | p.S1059Y |
| MEC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 165550779 | 165552343 | 165550997 | 165550997 | Missense_Mutation | T | C | p.K1045E |
| MEC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 165550779 | 165552346 | 165550997 | 165550997 | Missense_Mutation | T | C | p.K1045E |
| SUIT2_PANCREAS | 165550779 | 165552343 | 165551150 | 165551150 | Missense_Mutation | G | A | p.P994S |
| SUIT2_PANCREAS | 165550779 | 165552346 | 165551150 | 165551150 | Missense_Mutation | G | A | p.P994S |
| NCIH2023_LUNG | 165550779 | 165552343 | 165551167 | 165551167 | Missense_Mutation | G | A | p.P988L |
| NCIH2023_LUNG | 165550779 | 165552346 | 165551167 | 165551167 | Missense_Mutation | G | A | p.P988L |
| HEC151_ENDOMETRIUM | 165550779 | 165552343 | 165551177 | 165551177 | Missense_Mutation | G | T | p.L985M |
| HEC151_ENDOMETRIUM | 165550779 | 165552346 | 165551177 | 165551177 | Missense_Mutation | G | T | p.L985M |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 165550779 | 165552343 | 165551231 | 165551231 | Missense_Mutation | C | T | p.A967T |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 165550779 | 165552346 | 165551231 | 165551231 | Missense_Mutation | C | T | p.A967T |
| YKG1_CENTRAL_NERVOUS_SYSTEM | 165550779 | 165552343 | 165551258 | 165551258 | Missense_Mutation | A | G | p.S958P |
| YKG1_CENTRAL_NERVOUS_SYSTEM | 165550779 | 165552346 | 165551258 | 165551258 | Missense_Mutation | A | G | p.S958P |
| TOV21G_OVARY | 165550779 | 165552343 | 165551305 | 165551305 | Missense_Mutation | G | A | p.S942F |
| TOV21G_OVARY | 165550779 | 165552346 | 165551305 | 165551305 | Missense_Mutation | G | A | p.S942F |
| MONOMAC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 165550779 | 165552343 | 165551335 | 165551335 | Missense_Mutation | C | T | p.R932Q |
| MONOMAC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 165550779 | 165552346 | 165551335 | 165551335 | Missense_Mutation | C | T | p.R932Q |
| SNU324_PANCREAS | 165550779 | 165552343 | 165551366 | 165551366 | Missense_Mutation | T | C | p.N922D |
| SNU324_PANCREAS | 165550779 | 165552346 | 165551366 | 165551366 | Missense_Mutation | T | C | p.N922D |
| TE12_OESOPHAGUS | 165550779 | 165552343 | 165551410 | 165551410 | Missense_Mutation | C | G | p.R907T |
| TE12_OESOPHAGUS | 165550779 | 165552346 | 165551410 | 165551410 | Missense_Mutation | C | G | p.R907T |
| TE12_OESOPHAGUS | 165550779 | 165552343 | 165551414 | 165551414 | Missense_Mutation | T | C | p.T906A |
| TE12_OESOPHAGUS | 165550779 | 165552346 | 165551414 | 165551414 | Missense_Mutation | T | C | p.T906A |
| EN_ENDOMETRIUM | 165550779 | 165552343 | 165551467 | 165551467 | Missense_Mutation | A | G | p.V888A |
| EN_ENDOMETRIUM | 165550779 | 165552346 | 165551467 | 165551467 | Missense_Mutation | A | G | p.V888A |
| HCC2998_LARGE_INTESTINE | 165550779 | 165552343 | 165551494 | 165551494 | Missense_Mutation | C | T | p.R879K |
| HCC2998_LARGE_INTESTINE | 165550779 | 165552346 | 165551494 | 165551494 | Missense_Mutation | C | T | p.R879K |
| D542MG_CENTRAL_NERVOUS_SYSTEM | 165550779 | 165552343 | 165551545 | 165551545 | Missense_Mutation | G | A | p.S862F |
| D542MG_CENTRAL_NERVOUS_SYSTEM | 165550779 | 165552346 | 165551545 | 165551545 | Missense_Mutation | G | A | p.S862F |
| CCLFPEDS0008T_SOFT_TISSUE | 165550779 | 165552343 | 165551666 | 165551666 | Missense_Mutation | T | G | p.K822Q |
| CCLFPEDS0008T_SOFT_TISSUE | 165550779 | 165552346 | 165551666 | 165551666 | Missense_Mutation | T | G | p.K822Q |
| JHUEM7_ENDOMETRIUM | 165550779 | 165552343 | 165551709 | 165551709 | Missense_Mutation | C | A | p.M807I |
| JHUEM7_ENDOMETRIUM | 165550779 | 165552346 | 165551709 | 165551709 | Missense_Mutation | C | A | p.M807I |
| HCC33_LUNG | 165550779 | 165552343 | 165551714 | 165551714 | Missense_Mutation | C | G | p.G806R |
| HCC33_LUNG | 165550779 | 165552346 | 165551714 | 165551714 | Missense_Mutation | C | G | p.G806R |
| MFE319_ENDOMETRIUM | 165550779 | 165552343 | 165551722 | 165551722 | Missense_Mutation | G | A | p.P803L |
| MFE319_ENDOMETRIUM | 165550779 | 165552346 | 165551722 | 165551722 | Missense_Mutation | G | A | p.P803L |
| NCIH1963_LUNG | 165550779 | 165552343 | 165551734 | 165551734 | Missense_Mutation | C | A | p.R799L |
| NCIH1963_LUNG | 165550779 | 165552346 | 165551734 | 165551734 | Missense_Mutation | C | A | p.R799L |
| HEC251_ENDOMETRIUM | 165550779 | 165552343 | 165551796 | 165551796 | Missense_Mutation | C | A | p.K778N |
| HEC251_ENDOMETRIUM | 165550779 | 165552346 | 165551796 | 165551796 | Missense_Mutation | C | A | p.K778N |
| LN235_CENTRAL_NERVOUS_SYSTEM | 165550779 | 165552343 | 165551804 | 165551804 | Missense_Mutation | A | T | p.Y776N |
| LN235_CENTRAL_NERVOUS_SYSTEM | 165550779 | 165552346 | 165551804 | 165551804 | Missense_Mutation | A | T | p.Y776N |
| BE13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 165550779 | 165552343 | 165551842 | 165551842 | Missense_Mutation | G | A | p.P763L |
| BE13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 165550779 | 165552346 | 165551842 | 165551842 | Missense_Mutation | G | A | p.P763L |
| MESSA_SOFT_TISSUE | 165550779 | 165552343 | 165551863 | 165551863 | Missense_Mutation | T | C | p.H756R |
| MESSA_SOFT_TISSUE | 165550779 | 165552346 | 165551863 | 165551863 | Missense_Mutation | T | C | p.H756R |
| HEC251_ENDOMETRIUM | 165550779 | 165552343 | 165551879 | 165551879 | Missense_Mutation | C | A | p.D751Y |
| HEC251_ENDOMETRIUM | 165550779 | 165552346 | 165551879 | 165551879 | Missense_Mutation | C | A | p.D751Y |
| SMZ1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 165550779 | 165552343 | 165551885 | 165551885 | Missense_Mutation | C | T | p.V749I |
| SMZ1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 165550779 | 165552346 | 165551885 | 165551885 | Missense_Mutation | C | T | p.V749I |
| SNU1196_BILIARY_TRACT | 165550779 | 165552343 | 165551937 | 165551937 | Missense_Mutation | C | G | p.R731S |
| SNU1196_BILIARY_TRACT | 165550779 | 165552346 | 165551937 | 165551937 | Missense_Mutation | C | G | p.R731S |
| SNU1040_LARGE_INTESTINE | 165550779 | 165552343 | 165551983 | 165551983 | Missense_Mutation | G | A | p.T716I |
| SNU1040_LARGE_INTESTINE | 165550779 | 165552346 | 165551983 | 165551983 | Missense_Mutation | G | A | p.T716I |
| MCC13_SKIN | 165550779 | 165552343 | 165552004 | 165552004 | Missense_Mutation | G | A | p.T709I |
| MCC13_SKIN | 165550779 | 165552346 | 165552004 | 165552004 | Missense_Mutation | G | A | p.T709I |
| LS411N_LARGE_INTESTINE | 165550779 | 165552343 | 165552013 | 165552013 | Missense_Mutation | C | T | p.C706Y |
| LS411N_LARGE_INTESTINE | 165550779 | 165552346 | 165552013 | 165552013 | Missense_Mutation | C | T | p.C706Y |
| NCIH847_LUNG | 165550779 | 165552343 | 165552046 | 165552046 | Missense_Mutation | T | A | p.D695V |
| NCIH847_LUNG | 165550779 | 165552346 | 165552046 | 165552046 | Missense_Mutation | T | A | p.D695V |
| SKOV3_OVARY | 165550779 | 165552343 | 165552172 | 165552172 | Missense_Mutation | T | C | p.K653R |
| SKOV3_OVARY | 165550779 | 165552346 | 165552172 | 165552172 | Missense_Mutation | T | C | p.K653R |
| SNU81_LARGE_INTESTINE | 165550779 | 165552343 | 165552175 | 165552175 | Missense_Mutation | T | C | p.Y652C |
| SNU81_LARGE_INTESTINE | 165550779 | 165552346 | 165552175 | 165552175 | Missense_Mutation | T | C | p.Y652C |
| LCLC103H_LUNG | 165550779 | 165552343 | 165552218 | 165552218 | Missense_Mutation | G | C | p.P638A |
| LCLC103H_LUNG | 165550779 | 165552346 | 165552218 | 165552218 | Missense_Mutation | G | C | p.P638A |
| NCIH838_LUNG | 165550779 | 165552343 | 165552236 | 165552236 | Missense_Mutation | C | A | p.D632Y |
| NCIH838_LUNG | 165550779 | 165552346 | 165552236 | 165552236 | Missense_Mutation | C | A | p.D632Y |
| RERFLCMS_LUNG | 165550779 | 165552343 | 165552301 | 165552301 | Missense_Mutation | T | C | p.N610S |
| RERFLCMS_LUNG | 165550779 | 165552346 | 165552301 | 165552301 | Missense_Mutation | T | C | p.N610S |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 165557032 | 165557266 | 165557182 | 165557182 | Missense_Mutation | A | G | p.I514T |
| HCT15_LARGE_INTESTINE | 165557032 | 165557266 | 165557260 | 165557260 | Missense_Mutation | A | G | p.I488T |
| MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 165559614 | 165559730 | 165559628 | 165559628 | Missense_Mutation | A | G | p.I481T |
| GP2D_LARGE_INTESTINE | 165559614 | 165559730 | 165559650 | 165559650 | Missense_Mutation | G | T | p.P474T |
| GP5D_LARGE_INTESTINE | 165559614 | 165559730 | 165559650 | 165559650 | Missense_Mutation | G | T | p.P474T |
| MHHCALL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 165559614 | 165559730 | 165559688 | 165559688 | Missense_Mutation | G | A | p.A461V |
| TOV112D_OVARY | 165559614 | 165559730 | 165559716 | 165559716 | Missense_Mutation | C | T | p.G452R |
| NCIH1435_LUNG | 165578585 | 165578821 | 165578589 | 165578589 | Missense_Mutation | T | G | p.D369A |
| EKVX_LUNG | 165578585 | 165578821 | 165578636 | 165578636 | Missense_Mutation | C | A | p.E353D |
| CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 165578585 | 165578821 | 165578724 | 165578724 | Missense_Mutation | G | A | p.P324L |
| KYSE410_OESOPHAGUS | 165578585 | 165578821 | 165578746 | 165578746 | Missense_Mutation | G | A | p.P317S |
| HCC15_LUNG | 165578585 | 165578821 | 165578812 | 165578812 | Missense_Mutation | C | A | p.A295S |
| RKO_LARGE_INTESTINE | 165600197 | 165600385 | 165600250 | 165600250 | Missense_Mutation | T | G | p.E97D |
| HUPT4_PANCREAS | 165600197 | 165600385 | 165600276 | 165600276 | Missense_Mutation | C | T | p.E89K |
| HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 165600197 | 165600385 | 165600280 | 165600280 | Missense_Mutation | C | A | p.Q87H |
| SISO_CERVIX | 165697666 | 165697756 | 165697676 | 165697676 | Missense_Mutation | C | T | p.A49T |
| HEC6_ENDOMETRIUM | 165697666 | 165697756 | 165697676 | 165697676 | Missense_Mutation | C | T | p.A49T |
| OC316_OVARY | 165697666 | 165697756 | 165697688 | 165697688 | Missense_Mutation | G | A | p.R45C |
| SW756_CERVIX | 165550779 | 165552343 | 165551974 | 165551974 | Nonsense_Mutation | G | C | p.S719* |
| SW756_CERVIX | 165550779 | 165552346 | 165551974 | 165551974 | Nonsense_Mutation | G | C | p.S719* |
| JHUEM7_ENDOMETRIUM | 165550779 | 165552343 | 165552308 | 165552308 | Nonsense_Mutation | C | A | p.E608* |
| JHUEM7_ENDOMETRIUM | 165550779 | 165552346 | 165552308 | 165552308 | Nonsense_Mutation | C | A | p.E608* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for COBLL1 |
| 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_344506 | 2 | 165548730:165548907:165550778:165552343:165555914:165556009 | 165550778:165552343 | ENST00000342193.4,ENST00000392717.2 | KIRC | rs17244632 | chr2:165551404 | C/T | 8.67e-04 |
| exon_skip_344506 | 2 | 165548730:165548907:165550778:165552343:165555914:165556009 | 165550778:165552343 | ENST00000342193.4,ENST00000392717.2 | LUAD | rs7607980 | chr2:165551201 | A/G | 1.92e-03 |
| exon_skip_344506 | 2 | 165548730:165548907:165550778:165552343:165555914:165556009 | 165550778:165552343 | ENST00000342193.4,ENST00000392717.2 | PRAD | rs17244632 | chr2:165551404 | C/T | 5.44e-04 |
| exon_skip_344506 | 2 | 165548730:165548907:165550778:165552343:165555914:165556009 | 165550778:165552343 | ENST00000342193.4,ENST00000392717.2 | PRAD | rs7607980 | chr2:165551201 | A/G | 7.03e-04 |
| exon_skip_344507 | 2 | 165548730:165548907:165550778:165552346:165555914:165556009 | 165550778:165552346 | ENST00000194871.6,ENST00000375458.2,ENST00000409184.3,ENST00000493868.1 | KIRC | rs17244632 | chr2:165551404 | C/T | 8.67e-04 |
| exon_skip_344507 | 2 | 165548730:165548907:165550778:165552346:165555914:165556009 | 165550778:165552346 | ENST00000194871.6,ENST00000375458.2,ENST00000409184.3,ENST00000493868.1 | LUAD | rs7607980 | chr2:165551201 | A/G | 1.92e-03 |
| exon_skip_344507 | 2 | 165548730:165548907:165550778:165552346:165555914:165556009 | 165550778:165552346 | ENST00000194871.6,ENST00000375458.2,ENST00000409184.3,ENST00000493868.1 | PRAD | rs17244632 | chr2:165551404 | C/T | 5.44e-04 |
| exon_skip_344507 | 2 | 165548730:165548907:165550778:165552346:165555914:165556009 | 165550778:165552346 | ENST00000194871.6,ENST00000375458.2,ENST00000409184.3,ENST00000493868.1 | PRAD | rs7607980 | chr2:165551201 | A/G | 7.03e-04 |
| exon_skip_344519 | 2 | 165561461:165561615:165578584:165578821:165578934:165579001 | 165578584:165578821 | ENST00000342193.4,ENST00000456171.1,ENST00000194871.6,ENST00000375458.2,ENST00000392717.2,ENST00000409184.3,ENST00000493868.1 | PRAD | rs6414069 | chr2:165578581 | A/G | 7.09e-05 |
| exon_skip_344535 | 2 | 165600196:165600385:165657043:165657064:165697665:165697731 | 165657043:165657064 | ENST00000445474.2,ENST00000194871.6 | KIRC | rs62173958 | chr2:165657066 | T/C | 7.14e-04 |
| exon_skip_344535 | 2 | 165600196:165600385:165657043:165657064:165697665:165697731 | 165657043:165657064 | ENST00000445474.2,ENST00000194871.6 | PRAD | rs62173958 | chr2:165657066 | T/C | 3.91e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for COBLL1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for COBLL1 |
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RelatedDrugs for COBLL1 |
| 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 COBLL1 |
| 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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