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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 CWF19L2 |
 Gene summary |
| Gene information | Gene symbol | CWF19L2 | Gene ID | 143884 |
| Gene name | CWF19 like 2, cell cycle control (S. pombe) | |
| Synonyms | - | |
| Cytomap | 11q22.3 | |
| Type of gene | protein-coding | |
| Description | CWF19-like protein 2 | |
| Modification date | 20180519 | |
| UniProtAcc | Q2TBE0 | |
| Context | PubMed: CWF19L2 [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 CWF19L2 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 CWF19L2 |
| 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 CWF19L2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_77212 | 11 | 107205606:107205687:107207283:107207439:107219662:107219779 | 107207283:107207439 | ENSG00000152404.11 | ENST00000532251.1,ENST00000282251.5 |
| exon_skip_77213 | 11 | 107207283:107207439:107216139:107216216:107219662:107219779 | 107216139:107216216 | ENSG00000152404.11 | ENST00000431778.1 |
| exon_skip_77214 | 11 | 107224249:107224462:107260799:107260937:107263504:107263621 | 107260799:107260937 | ENSG00000152404.11 | ENST00000433523.1,ENST00000282251.5,ENST00000431778.1 |
| exon_skip_77215 | 11 | 107263504:107263621:107286934:107287024:107288919:107289010 | 107286934:107287024 | ENSG00000152404.11 | ENST00000532251.1,ENST00000433523.1,ENST00000282251.5,ENST00000431778.1 |
| exon_skip_77217 | 11 | 107288919:107289013:107299524:107300177:107304359:107304475 | 107299524:107300177 | ENSG00000152404.11 | ENST00000532251.1,ENST00000433523.1,ENST00000282251.5,ENST00000431778.1 |
| exon_skip_77218 | 11 | 107304359:107304475:107309815:107309909:107312228:107312348 | 107309815:107309909 | ENSG00000152404.11 | ENST00000532251.1,ENST00000433523.1,ENST00000282251.5,ENST00000431778.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CWF19L2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_77212 | 11 | 107205606:107205687:107207283:107207439:107219662:107219779 | 107207283:107207439 | ENSG00000152404.11 | ENST00000282251.5,ENST00000532251.1 |
| exon_skip_77213 | 11 | 107207283:107207439:107216139:107216216:107219662:107219779 | 107216139:107216216 | ENSG00000152404.11 | ENST00000431778.1 |
| exon_skip_77214 | 11 | 107224249:107224462:107260799:107260937:107263504:107263621 | 107260799:107260937 | ENSG00000152404.11 | ENST00000282251.5,ENST00000431778.1,ENST00000433523.1 |
| exon_skip_77215 | 11 | 107263504:107263621:107286934:107287024:107288919:107289010 | 107286934:107287024 | ENSG00000152404.11 | ENST00000282251.5,ENST00000431778.1,ENST00000532251.1,ENST00000433523.1 |
| exon_skip_77217 | 11 | 107288919:107289013:107299524:107300177:107304359:107304475 | 107299524:107300177 | ENSG00000152404.11 | ENST00000282251.5,ENST00000431778.1,ENST00000532251.1,ENST00000433523.1 |
| exon_skip_77218 | 11 | 107304359:107304475:107309815:107309909:107312228:107312348 | 107309815:107309909 | ENSG00000152404.11 | ENST00000282251.5,ENST00000431778.1,ENST00000532251.1,ENST00000433523.1 |
| 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 CWF19L2 |
| 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 |
| ENST00000282251 | 107299524 | 107300177 | Frame-shift |
| ENST00000282251 | 107309815 | 107309909 | Frame-shift |
| ENST00000282251 | 107207283 | 107207439 | In-frame |
| ENST00000282251 | 107260799 | 107260937 | In-frame |
| ENST00000282251 | 107286934 | 107287024 | 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 |
| ENST00000282251 | 107299524 | 107300177 | Frame-shift |
| ENST00000282251 | 107309815 | 107309909 | Frame-shift |
| ENST00000282251 | 107207283 | 107207439 | In-frame |
| ENST00000282251 | 107260799 | 107260937 | In-frame |
| ENST00000282251 | 107286934 | 107287024 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CWF19L2 |
| 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 |
| ENST00000282251 | 3295 | 894 | 107286934 | 107287024 | 1556 | 1645 | 509 | 539 |
| ENST00000282251 | 3295 | 894 | 107260799 | 107260937 | 1763 | 1900 | 578 | 624 |
| ENST00000282251 | 3295 | 894 | 107207283 | 107207439 | 2231 | 2386 | 734 | 786 |
| 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 |
| ENST00000282251 | 3295 | 894 | 107286934 | 107287024 | 1556 | 1645 | 509 | 539 |
| ENST00000282251 | 3295 | 894 | 107260799 | 107260937 | 1763 | 1900 | 578 | 624 |
| ENST00000282251 | 3295 | 894 | 107207283 | 107207439 | 2231 | 2386 | 734 | 786 |
| 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 |
| Q2TBE0 | 509 | 539 | 1 | 894 | Chain | ID=PRO_0000315648;Note=CWF19-like protein 2 |
| Q2TBE0 | 509 | 539 | 502 | 530 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q2TBE0 | 509 | 539 | 537 | 537 | Natural variant | ID=VAR_038271;Note=G->R;Dbxref=dbSNP:rs17106909 |
| Q2TBE0 | 578 | 624 | 1 | 894 | Chain | ID=PRO_0000315648;Note=CWF19-like protein 2 |
| Q2TBE0 | 578 | 624 | 604 | 604 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25772364,ECO:0000244|PubMed:28112733;Dbxref=PMID:25772364,PMID:28112733 |
| Q2TBE0 | 578 | 624 | 584 | 584 | Sequence conflict | Note=E->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q2TBE0 | 734 | 786 | 673 | 894 | Alternative sequence | ID=VSP_030591;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q2TBE0 | 734 | 786 | 735 | 742 | Alternative sequence | ID=VSP_030592;Note=In isoform 2. MFRKSLVK->IKSRTVIQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q2TBE0 | 734 | 786 | 743 | 894 | Alternative sequence | ID=VSP_030593;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q2TBE0 | 734 | 786 | 1 | 894 | Chain | ID=PRO_0000315648;Note=CWF19-like protein 2 |
| 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 |
| Q2TBE0 | 509 | 539 | 1 | 894 | Chain | ID=PRO_0000315648;Note=CWF19-like protein 2 |
| Q2TBE0 | 509 | 539 | 502 | 530 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q2TBE0 | 509 | 539 | 537 | 537 | Natural variant | ID=VAR_038271;Note=G->R;Dbxref=dbSNP:rs17106909 |
| Q2TBE0 | 578 | 624 | 1 | 894 | Chain | ID=PRO_0000315648;Note=CWF19-like protein 2 |
| Q2TBE0 | 578 | 624 | 604 | 604 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25772364,ECO:0000244|PubMed:28112733;Dbxref=PMID:25772364,PMID:28112733 |
| Q2TBE0 | 578 | 624 | 584 | 584 | Sequence conflict | Note=E->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q2TBE0 | 734 | 786 | 673 | 894 | Alternative sequence | ID=VSP_030591;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q2TBE0 | 734 | 786 | 735 | 742 | Alternative sequence | ID=VSP_030592;Note=In isoform 2. MFRKSLVK->IKSRTVIQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q2TBE0 | 734 | 786 | 743 | 894 | Alternative sequence | ID=VSP_030593;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q2TBE0 | 734 | 786 | 1 | 894 | Chain | ID=PRO_0000315648;Note=CWF19-like protein 2 |
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SNVs in the skipped exons for CWF19L2 |
| - 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. |
CWF19L2_COAD_exon_skip_77217_psi_boxplot.png |
CWF19L2_ESCA_exon_skip_77217_psi_boxplot.png |
CWF19L2_LUSC_exon_skip_77217_psi_boxplot.png |
CWF19L2_STAD_exon_skip_77217_psi_boxplot.png |
CWF19L2_UCEC_exon_skip_77217_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-A6-6653-01 | exon_skip_77212 | 107207284 | 107207439 | 107207381 | 107207381 | Frame_Shift_Del | A | - | p.L754fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_77212 | 107207284 | 107207439 | 107207381 | 107207381 | Frame_Shift_Del | A | - | p.L754fs |
| LIHC | TCGA-DD-A39Y-01 | 107260800 | 107260937 | 107260852 | 107260852 | Frame_Shift_Del | T | - | p.K607fs | |
| LIHC | TCGA-G3-A3CJ-01 | 107260800 | 107260937 | 107260852 | 107260852 | Frame_Shift_Del | T | - | p.K607fs | |
| LIHC | TCGA-DD-A3A0-01 | 107260800 | 107260937 | 107260858 | 107260858 | Frame_Shift_Del | T | - | p.N605fs | |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_77215 | 107286935 | 107287024 | 107286947 | 107286947 | Frame_Shift_Del | T | - | p.K535fs |
| LUAD | TCGA-44-6148-01 | exon_skip_77217 | 107299525 | 107300177 | 107299527 | 107299530 | Frame_Shift_Del | AGCA | - | p.FA476fs |
| COAD | TCGA-AU-6004-01 | exon_skip_77217 | 107299525 | 107300177 | 107299560 | 107299560 | Frame_Shift_Del | T | - | p.E467fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_77217 | 107299525 | 107300177 | 107299560 | 107299560 | Frame_Shift_Del | T | - | p.E467fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_77217 | 107299525 | 107300177 | 107299560 | 107299560 | Frame_Shift_Del | T | - | p.K466fs |
| STAD | TCGA-BR-4370-01 | exon_skip_77217 | 107299525 | 107300177 | 107299560 | 107299560 | Frame_Shift_Del | T | - | p.E467fs |
| STAD | TCGA-BR-8078-01 | exon_skip_77217 | 107299525 | 107300177 | 107299560 | 107299560 | Frame_Shift_Del | T | - | p.E467fs |
| STAD | TCGA-R5-A7ZI-01 | exon_skip_77217 | 107299525 | 107300177 | 107299560 | 107299560 | Frame_Shift_Del | T | - | p.E467fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_77217 | 107299525 | 107300177 | 107299599 | 107299599 | Frame_Shift_Del | T | - | p.K453fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_77217 | 107299525 | 107300177 | 107299599 | 107299599 | Frame_Shift_Del | T | - | p.K453fs |
| UCEC | TCGA-A5-A0G9-01 | exon_skip_77217 | 107299525 | 107300177 | 107299657 | 107299657 | Frame_Shift_Del | T | - | p.K434fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_77217 | 107299525 | 107300177 | 107299803 | 107299803 | Frame_Shift_Del | T | - | p.K385fs |
| COAD | TCGA-A6-6653-01 | exon_skip_77217 | 107299525 | 107300177 | 107299981 | 107299981 | Frame_Shift_Del | T | - | p.N326fs |
| STAD | TCGA-CG-5728-01 | exon_skip_77217 | 107299525 | 107300177 | 107299981 | 107299981 | Frame_Shift_Del | T | - | p.N326fs |
| STAD | TCGA-HU-A4GT-01 | exon_skip_77217 | 107299525 | 107300177 | 107299981 | 107299981 | Frame_Shift_Del | T | - | p.N326fs |
| STAD | TCGA-MX-A5UJ-01 | exon_skip_77217 | 107299525 | 107300177 | 107299981 | 107299981 | Frame_Shift_Del | T | - | p.N326fs |
| UCEC | TCGA-B5-A0K9-01 | exon_skip_77217 | 107299525 | 107300177 | 107299981 | 107299981 | Frame_Shift_Del | T | - | p.N326fs |
| UCEC | TCGA-B5-A11F-01 | exon_skip_77217 | 107299525 | 107300177 | 107300005 | 107300005 | Frame_Shift_Del | T | - | p.Y318fs |
| UCEC | TCGA-D1-A0ZR-01 | exon_skip_77217 | 107299525 | 107300177 | 107300005 | 107300005 | Frame_Shift_Del | T | - | p.Y318fs |
| UCEC | TCGA-D1-A102-01 | exon_skip_77217 | 107299525 | 107300177 | 107300005 | 107300005 | Frame_Shift_Del | T | - | p.Y318fs |
| STAD | TCGA-D7-A4YY-01 | exon_skip_77212 | 107207284 | 107207439 | 107207380 | 107207381 | Frame_Shift_Ins | - | A | p.L754fs |
| COAD | TCGA-A6-6781-01 | exon_skip_77217 | 107299525 | 107300177 | 107299559 | 107299560 | Frame_Shift_Ins | - | T | p.E467fs |
| BRCA | TCGA-AO-A12A-01 | exon_skip_77217 | 107299525 | 107300177 | 107300004 | 107300005 | Frame_Shift_Ins | - | T | p.Y318fs |
| COAD | TCGA-CM-5868-01 | exon_skip_77215 | 107286935 | 107287024 | 107287000 | 107287000 | Nonsense_Mutation | G | A | p.Q518X |
| LUAD | TCGA-55-A48Z-01 | exon_skip_77217 | 107299525 | 107300177 | 107299702 | 107299702 | Nonsense_Mutation | C | T | p.W419* |
| UCEC | TCGA-D1-A17Q-01 | exon_skip_77217 | 107299525 | 107300177 | 107299910 | 107299910 | Nonsense_Mutation | C | A | p.E350* |
| UCEC | TCGA-AX-A0J0-01 | exon_skip_77217 | 107299525 | 107300177 | 107299925 | 107299925 | Nonsense_Mutation | C | A | p.E345* |
| READ | TCGA-AG-A002-01 | exon_skip_77217 | 107299525 | 107300177 | 107300048 | 107300048 | Nonsense_Mutation | C | A | p.E304X |
| LUSC | TCGA-85-6560-01 | exon_skip_77217 | 107299525 | 107300177 | 107300080 | 107300080 | Nonsense_Mutation | G | C | p.S293* |
| ESCA | TCGA-L5-A4OJ-01 | exon_skip_77217 | 107299525 | 107300177 | 107300162 | 107300162 | Nonsense_Mutation | G | A | p.Q266* |
| ESCA | TCGA-L5-A4OJ-01 | exon_skip_77217 | 107299525 | 107300177 | 107300162 | 107300162 | Nonsense_Mutation | G | A | p.Q266X |
| TGCT | TCGA-YU-A90W-01 | exon_skip_77218 | 107309816 | 107309909 | 107309827 | 107309827 | Nonsense_Mutation | G | T | p.S218* |
| CESC | TCGA-EK-A3GK-01 | exon_skip_77212 | 107207284 | 107207439 | 107207441 | 107207442 | Splice_Site | - | A | e15-2 |
| HNSC | TCGA-BA-6871-01 | exon_skip_77212 | 107207284 | 107207439 | 107207441 | 107207442 | Splice_Site | - | A | p.M735_splice |
| PAAD | TCGA-LB-A7SX-01 | exon_skip_77212 | 107207284 | 107207439 | 107207441 | 107207442 | Splice_Site | - | A | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-L5-A4OJ-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_77217 | |
| Skipped exon start: 107299525 | |
| Skipped exon end: 107300177 | |
| Mutation start: 107300162 | |
| Mutation end: 107300162 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.Q266X | |
| Sample: TCGA-L5-A4OJ-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_77217 | |
| Skipped exon start: 107299525 | |
| Skipped exon end: 107300177 | |
| Mutation start: 107300162 | |
| Mutation end: 107300162 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.Q266* | |
exon_skip_151962_ESCA_TCGA-L5-A4OJ-01.png | |
exon_skip_151963_ESCA_TCGA-L5-A4OJ-01.png | |
exon_skip_286379_ESCA_TCGA-L5-A4OJ-01.png | |
exon_skip_325884_ESCA_TCGA-L5-A4OJ-01.png | |
exon_skip_482144_ESCA_TCGA-L5-A4OJ-01.png | |
exon_skip_488311_ESCA_TCGA-L5-A4OJ-01.png | |
exon_skip_77217_ESCA_TCGA-L5-A4OJ-01.png | |
 | Sample: TCGA-A6-6781-01 |
| Cancer type: COAD | |
| ESID: exon_skip_77217 | |
| Skipped exon start: 107299525 | |
| Skipped exon end: 107300177 | |
| Mutation start: 107299559 | |
| Mutation end: 107299560 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: T | |
| AAchange: p.E467fs | |
exon_skip_113241_COAD_TCGA-A6-6781-01.png | |
exon_skip_142268_COAD_TCGA-A6-6781-01.png | |
exon_skip_347536_COAD_TCGA-A6-6781-01.png | |
exon_skip_3490_COAD_TCGA-A6-6781-01.png | |
exon_skip_35193_COAD_TCGA-A6-6781-01.png | |
exon_skip_390969_COAD_TCGA-A6-6781-01.png | |
exon_skip_438601_COAD_TCGA-A6-6781-01.png | |
exon_skip_438605_COAD_TCGA-A6-6781-01.png | |
exon_skip_77217_COAD_TCGA-A6-6781-01.png | |
 | Sample: TCGA-L5-A4OI-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_77217 | |
| Skipped exon start: 107299525 | |
| Skipped exon end: 107300177 | |
| Mutation start: 107299560 | |
| Mutation end: 107299560 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.E467fs | |
exon_skip_112640_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_112965_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_122690_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_129706_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_135696_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_135704_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_135820_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_147024_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_149455_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_307491_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_308211_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_308974_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_309972_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_311841_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_328488_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_349475_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_352933_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_374468_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_374469_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_386802_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_423582_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_428975_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_434375_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_439047_ESCA_TCGA-L5-A4OI-01.png | |
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 | Sample: TCGA-MX-A5UJ-01 |
| Cancer type: STAD | |
| ESID: exon_skip_77217 | |
| Skipped exon start: 107299525 | |
| Skipped exon end: 107300177 | |
| Mutation start: 107299981 | |
| Mutation end: 107299981 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.N326fs | |
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| - 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 |
| NCIH1048_LUNG | 107207284 | 107207439 | 107207381 | 107207381 | Frame_Shift_Del | A | - | p.L754fs |
| PACADD137_PANCREAS | 107207284 | 107207439 | 107207381 | 107207381 | Frame_Shift_Del | A | - | p.L754fs |
| HEC59_ENDOMETRIUM | 107207284 | 107207439 | 107207381 | 107207381 | Frame_Shift_Del | A | - | p.L754fs |
| GP2D_LARGE_INTESTINE | 107207284 | 107207439 | 107207381 | 107207381 | Frame_Shift_Del | A | - | p.L754fs |
| OVK18_OVARY | 107207284 | 107207439 | 107207381 | 107207381 | Frame_Shift_Del | A | - | p.L754fs |
| SKUT1_SOFT_TISSUE | 107207284 | 107207439 | 107207381 | 107207381 | Frame_Shift_Del | A | - | p.L754fs |
| GP5D_LARGE_INTESTINE | 107207284 | 107207439 | 107207381 | 107207381 | Frame_Shift_Del | A | - | p.L754fs |
| HCT116_LARGE_INTESTINE | 107207284 | 107207439 | 107207381 | 107207381 | Frame_Shift_Del | A | - | p.L754fs |
| HEC265_ENDOMETRIUM | 107299525 | 107300177 | 107299560 | 107299560 | Frame_Shift_Del | T | - | p.K466fs |
| SNU520_STOMACH | 107299525 | 107300177 | 107299560 | 107299560 | Frame_Shift_Del | T | - | p.K466fs |
| KM12_LARGE_INTESTINE | 107299525 | 107300177 | 107299560 | 107299560 | Frame_Shift_Del | T | - | p.K466fs |
| SNU1040_LARGE_INTESTINE | 107299525 | 107300177 | 107299560 | 107299560 | Frame_Shift_Del | T | - | p.K466fs |
| LS180_LARGE_INTESTINE | 107286935 | 107287024 | 107286946 | 107286947 | Frame_Shift_Ins | - | T | p.S536fs |
| ASH3_THYROID | 107207284 | 107207439 | 107207328 | 107207328 | Missense_Mutation | G | A | p.P772S |
| NCIH250_LUNG | 107207284 | 107207439 | 107207333 | 107207333 | Missense_Mutation | C | A | p.C770F |
| PK45H_PANCREAS | 107207284 | 107207439 | 107207390 | 107207390 | Missense_Mutation | C | T | p.C751Y |
| PC14_LUNG | 107207284 | 107207439 | 107207400 | 107207400 | Missense_Mutation | C | T | p.G748R |
| SNU1040_LARGE_INTESTINE | 107260800 | 107260937 | 107260808 | 107260808 | Missense_Mutation | C | A | p.A622S |
| LMSU_STOMACH | 107260800 | 107260937 | 107260809 | 107260809 | Missense_Mutation | C | T | p.M621I |
| HEC251_ENDOMETRIUM | 107260800 | 107260937 | 107260823 | 107260823 | Missense_Mutation | G | C | p.L617V |
| NCIH1651_LUNG | 107260800 | 107260937 | 107260889 | 107260889 | Missense_Mutation | C | T | p.D595N |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 107260800 | 107260937 | 107260922 | 107260922 | Missense_Mutation | C | T | p.E584K |
| HCC2450_LUNG | 107286935 | 107287024 | 107286945 | 107286945 | Missense_Mutation | G | C | p.S536C |
| HCC2998_LARGE_INTESTINE | 107286935 | 107287024 | 107286981 | 107286981 | Missense_Mutation | T | G | p.K524T |
| YAMATO_SOFT_TISSUE | 107286935 | 107287024 | 107286994 | 107286994 | Missense_Mutation | C | T | p.E520K |
| HEC108_ENDOMETRIUM | 107286935 | 107287024 | 107287008 | 107287008 | Missense_Mutation | A | G | p.L515P |
| KNS62_LUNG | 107299525 | 107300177 | 107299581 | 107299581 | Missense_Mutation | C | G | p.L459F |
| JHUEM1_ENDOMETRIUM | 107299525 | 107300177 | 107299652 | 107299652 | Missense_Mutation | A | G | p.S436P |
| SNU1040_LARGE_INTESTINE | 107299525 | 107300177 | 107299678 | 107299678 | Missense_Mutation | T | C | p.D427G |
| NCIH1648_LUNG | 107299525 | 107300177 | 107299696 | 107299696 | Missense_Mutation | C | G | p.R421P |
| SNU1040_LARGE_INTESTINE | 107299525 | 107300177 | 107299696 | 107299696 | Missense_Mutation | C | T | p.R421H |
| HEC251_ENDOMETRIUM | 107299525 | 107300177 | 107299728 | 107299728 | Missense_Mutation | C | A | p.K410N |
| HT115_LARGE_INTESTINE | 107299525 | 107300177 | 107299778 | 107299778 | Missense_Mutation | C | T | p.A394T |
| OUMS23_LARGE_INTESTINE | 107299525 | 107300177 | 107299801 | 107299801 | Missense_Mutation | A | G | p.F386S |
| SNUC2B_LARGE_INTESTINE | 107299525 | 107300177 | 107299933 | 107299933 | Missense_Mutation | C | A | p.G342V |
| KMRC2_KIDNEY | 107299525 | 107300177 | 107299978 | 107299978 | Missense_Mutation | C | T | p.S327N |
| FU97_STOMACH | 107299525 | 107300177 | 107300005 | 107300005 | Missense_Mutation | T | C | p.Y318C |
| NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 107299525 | 107300177 | 107300051 | 107300051 | Missense_Mutation | T | C | p.R303G |
| MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 107299525 | 107300177 | 107300084 | 107300084 | Missense_Mutation | A | G | p.Y292H |
| SCMCRM2_SOFT_TISSUE | 107299525 | 107300177 | 107300119 | 107300119 | Missense_Mutation | T | C | p.E280G |
| SNU216_STOMACH | 107309816 | 107309909 | 107309840 | 107309840 | Missense_Mutation | A | T | p.C214S |
| KE97_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 107309816 | 107309909 | 107309898 | 107309898 | Missense_Mutation | C | T | p.M194I |
| JHUEM7_ENDOMETRIUM | 107299525 | 107300177 | 107300120 | 107300120 | Nonsense_Mutation | C | A | p.E280* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CWF19L2 |
| 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_77217 | 11 | 107288919:107289013:107299524:107300177:107304359:107304475 | 107299524:107300177 | ENST00000532251.1,ENST00000433523.1,ENST00000282251.5,ENST00000431778.1 | LUAD | rs659040 | chr11:107299631 | G/A | 1.36e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CWF19L2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CWF19L2 |
Top |
RelatedDrugs for CWF19L2 |
| 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 CWF19L2 |
| 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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