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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 CWF19L1 |
 Gene summary |
| Gene information | Gene symbol | CWF19L1 | Gene ID | 55280 |
| Gene name | CWF19 like 1, cell cycle control (S. pombe) | |
| Synonyms | C19L1|SCAR17|hDrn1 | |
| Cytomap | 10q24.31 | |
| Type of gene | protein-coding | |
| Description | CWF19-like protein 1CWF19-like 1 cell cycle control | |
| Modification date | 20180519 | |
| UniProtAcc | Q69YN2 | |
| Context | PubMed: CWF19L1 [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 CWF19L1 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 CWF19L1 |
| 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 CWF19L1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_53062 | 10 | 101992933:101993128:101995423:101995521:101996606:101996726 | 101995423:101995521 | ENSG00000095485.12 | ENST00000468709.1,ENST00000482452.1,ENST00000478047.1,ENST00000354105.4 |
| exon_skip_53063 | 10 | 101992933:101993128:101995423:101995521:101997778:101997988 | 101995423:101995521 | ENSG00000095485.12 | ENST00000370379.1 |
| exon_skip_53073 | 10 | 101995423:101995521:101996606:101996726:101997778:101997988 | 101996606:101996726 | ENSG00000095485.12 | ENST00000468709.1,ENST00000482452.1,ENST00000478047.1,ENST00000354105.4 |
| exon_skip_53076 | 10 | 101995423:101995521:101997778:101997988:102003454:102003529 | 101997778:101997988 | ENSG00000095485.12 | ENST00000370379.1 |
| exon_skip_53077 | 10 | 101996606:101996726:101997778:101997988:102003454:102003529 | 101997778:101997988 | ENSG00000095485.12 | ENST00000468709.1,ENST00000482452.1,ENST00000354105.4 |
| exon_skip_53079 | 10 | 101997939:101997988:102003454:102003529:102005555:102005670 | 102003454:102003529 | ENSG00000095485.12 | ENST00000482452.1 |
| exon_skip_53080 | 10 | 101997939:101997988:102003454:102003534:102005555:102005670 | 102003454:102003534 | ENSG00000095485.12 | ENST00000468709.1,ENST00000466408.1,ENST00000370379.1,ENST00000466955.1,ENST00000354105.4 |
| exon_skip_53086 | 10 | 102006551:102006692:102009866:102009935:102013177:102013296 | 102009866:102009935 | ENSG00000095485.12 | ENST00000466955.1 |
| exon_skip_53088 | 10 | 102006551:102006692:102010004:102010089:102013177:102013296 | 102010004:102010089 | ENSG00000095485.12 | ENST00000468709.1,ENST00000496796.1,ENST00000482452.1,ENST00000354105.4 |
| exon_skip_53104 | 10 | 102013177:102013296:102016018:102016233:102019974:102020076 | 102016018:102016233 | ENSG00000095485.12 | ENST00000354105.4 |
| exon_skip_53105 | 10 | 102013177:102013296:102016018:102016233:102020722:102020785 | 102016018:102016233 | ENSG00000095485.12 | ENST00000473842.1 |
| exon_skip_53107 | 10 | 102013177:102013296:102016018:102016233:102027327:102027355 | 102016018:102016233 | ENSG00000095485.12 | ENST00000496796.1 |
| exon_skip_53111 | 10 | 102013177:102013296:102019974:102020076:102020722:102020785 | 102019974:102020076 | ENSG00000095485.12 | ENST00000468709.1 |
| exon_skip_53113 | 10 | 102016046:102016233:102019974:102020076:102020722:102020785 | 102019974:102020076 | ENSG00000095485.12 | ENST00000354105.4 |
| exon_skip_53117 | 10 | 102016018:102016233:102020722:102020801:102021735:102021820 | 102020722:102020801 | ENSG00000095485.12 | ENST00000473842.1 |
| exon_skip_53120 | 10 | 102019974:102020076:102020722:102020785:102021735:102021820 | 102020722:102020785 | ENSG00000095485.12 | ENST00000468709.1 |
| exon_skip_53121 | 10 | 102019974:102020076:102020722:102020801:102021735:102021820 | 102020722:102020801 | ENSG00000095485.12 | ENST00000354105.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CWF19L1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_53062 | 10 | 101992933:101993128:101995423:101995521:101996606:101996726 | 101995423:101995521 | ENSG00000095485.12 | ENST00000468709.1,ENST00000354105.4,ENST00000482452.1,ENST00000478047.1 |
| exon_skip_53063 | 10 | 101992933:101993128:101995423:101995521:101997778:101997988 | 101995423:101995521 | ENSG00000095485.12 | ENST00000370379.1 |
| exon_skip_53073 | 10 | 101995423:101995521:101996606:101996726:101997778:101997988 | 101996606:101996726 | ENSG00000095485.12 | ENST00000468709.1,ENST00000354105.4,ENST00000482452.1,ENST00000478047.1 |
| exon_skip_53076 | 10 | 101995423:101995521:101997778:101997988:102003454:102003529 | 101997778:101997988 | ENSG00000095485.12 | ENST00000370379.1 |
| exon_skip_53077 | 10 | 101996606:101996726:101997778:101997988:102003454:102003529 | 101997778:101997988 | ENSG00000095485.12 | ENST00000468709.1,ENST00000354105.4,ENST00000482452.1 |
| exon_skip_53079 | 10 | 101997939:101997988:102003454:102003529:102005555:102005670 | 102003454:102003529 | ENSG00000095485.12 | ENST00000482452.1 |
| exon_skip_53080 | 10 | 101997939:101997988:102003454:102003534:102005555:102005670 | 102003454:102003534 | ENSG00000095485.12 | ENST00000468709.1,ENST00000354105.4,ENST00000370379.1,ENST00000466955.1,ENST00000466408.1 |
| exon_skip_53086 | 10 | 102006551:102006692:102009866:102009935:102013177:102013296 | 102009866:102009935 | ENSG00000095485.12 | ENST00000466955.1 |
| exon_skip_53088 | 10 | 102006551:102006692:102010004:102010089:102013177:102013296 | 102010004:102010089 | ENSG00000095485.12 | ENST00000468709.1,ENST00000354105.4,ENST00000482452.1,ENST00000496796.1 |
| exon_skip_53104 | 10 | 102013177:102013296:102016018:102016233:102019974:102020076 | 102016018:102016233 | ENSG00000095485.12 | ENST00000354105.4 |
| exon_skip_53105 | 10 | 102013177:102013296:102016018:102016233:102020722:102020785 | 102016018:102016233 | ENSG00000095485.12 | ENST00000473842.1 |
| exon_skip_53107 | 10 | 102013177:102013296:102016018:102016233:102027327:102027355 | 102016018:102016233 | ENSG00000095485.12 | ENST00000496796.1 |
| exon_skip_53111 | 10 | 102013177:102013296:102019974:102020076:102020722:102020785 | 102019974:102020076 | ENSG00000095485.12 | ENST00000468709.1 |
| exon_skip_53113 | 10 | 102016046:102016233:102019974:102020076:102020722:102020785 | 102019974:102020076 | ENSG00000095485.12 | ENST00000354105.4 |
| exon_skip_53117 | 10 | 102016018:102016233:102020722:102020801:102021735:102021820 | 102020722:102020801 | ENSG00000095485.12 | ENST00000473842.1 |
| exon_skip_53120 | 10 | 102019974:102020076:102020722:102020785:102021735:102021820 | 102020722:102020785 | ENSG00000095485.12 | ENST00000468709.1 |
| exon_skip_53121 | 10 | 102019974:102020076:102020722:102020801:102021735:102021820 | 102020722:102020801 | ENSG00000095485.12 | ENST00000354105.4 |
| 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 CWF19L1 |
| 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 |
| ENST00000354105 | 101995423 | 101995521 | Frame-shift |
| ENST00000354105 | 102003454 | 102003534 | Frame-shift |
| ENST00000354105 | 102010004 | 102010089 | Frame-shift |
| ENST00000354105 | 102016018 | 102016233 | Frame-shift |
| ENST00000354105 | 102020722 | 102020801 | Frame-shift |
| ENST00000354105 | 101996606 | 101996726 | In-frame |
| ENST00000354105 | 101997778 | 101997988 | In-frame |
| ENST00000354105 | 102019974 | 102020076 | 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 |
| ENST00000354105 | 101995423 | 101995521 | Frame-shift |
| ENST00000354105 | 102003454 | 102003534 | Frame-shift |
| ENST00000354105 | 102010004 | 102010089 | Frame-shift |
| ENST00000354105 | 102016018 | 102016233 | Frame-shift |
| ENST00000354105 | 102020722 | 102020801 | Frame-shift |
| ENST00000354105 | 101996606 | 101996726 | In-frame |
| ENST00000354105 | 101997778 | 101997988 | In-frame |
| ENST00000354105 | 102019974 | 102020076 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CWF19L1 |
| 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 |
| ENST00000354105 | 2650 | 538 | 102019974 | 102020076 | 275 | 376 | 62 | 96 |
| ENST00000354105 | 2650 | 538 | 101997778 | 101997988 | 1132 | 1341 | 348 | 418 |
| ENST00000354105 | 2650 | 538 | 101996606 | 101996726 | 1342 | 1461 | 418 | 458 |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000354105 | 2650 | 538 | 102019974 | 102020076 | 275 | 376 | 62 | 96 |
| ENST00000354105 | 2650 | 538 | 101997778 | 101997988 | 1132 | 1341 | 348 | 418 |
| ENST00000354105 | 2650 | 538 | 101996606 | 101996726 | 1342 | 1461 | 418 | 458 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q69YN2 | 62 | 96 | 1 | 296 | Alternative sequence | ID=VSP_030586;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q69YN2 | 62 | 96 | 1 | 137 | Alternative sequence | ID=VSP_030587;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:17974005;Dbxref=PMID:14702039,PMID:17974005 |
| Q69YN2 | 62 | 96 | 1 | 538 | Chain | ID=PRO_0000315641;Note=CWF19-like protein 1 |
| Q69YN2 | 62 | 96 | 63 | 63 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q69YN2 | 348 | 418 | 1 | 538 | Chain | ID=PRO_0000315641;Note=CWF19-like protein 1 |
| Q69YN2 | 418 | 458 | 1 | 538 | Chain | ID=PRO_0000315641;Note=CWF19-like protein 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 |
| Q69YN2 | 62 | 96 | 1 | 296 | Alternative sequence | ID=VSP_030586;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q69YN2 | 62 | 96 | 1 | 137 | Alternative sequence | ID=VSP_030587;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:17974005;Dbxref=PMID:14702039,PMID:17974005 |
| Q69YN2 | 62 | 96 | 1 | 538 | Chain | ID=PRO_0000315641;Note=CWF19-like protein 1 |
| Q69YN2 | 62 | 96 | 63 | 63 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q69YN2 | 348 | 418 | 1 | 538 | Chain | ID=PRO_0000315641;Note=CWF19-like protein 1 |
| Q69YN2 | 418 | 458 | 1 | 538 | Chain | ID=PRO_0000315641;Note=CWF19-like protein 1 |
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SNVs in the skipped exons for CWF19L1 |
| - 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. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_53077 exon_skip_53076 | 101997779 | 101997988 | 101997782 | 101997782 | Frame_Shift_Del | T | - | p.L417fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_53105 exon_skip_53104 exon_skip_53107 | 102016019 | 102016233 | 102016037 | 102016037 | Frame_Shift_Del | C | - | p.G162fs |
| HNSC | TCGA-UF-A7JS-01 | exon_skip_53077 exon_skip_53076 | 101997779 | 101997988 | 101997803 | 101997804 | Frame_Shift_Ins | - | T | p.*410fs |
| ESCA | TCGA-L5-A88Z-01 | exon_skip_53062 exon_skip_53063 | 101995424 | 101995521 | 101995434 | 101995434 | Nonsense_Mutation | G | A | p.Q488* |
| ESCA | TCGA-L5-A88Z-01 | exon_skip_53062 exon_skip_53063 | 101995424 | 101995521 | 101995434 | 101995434 | Nonsense_Mutation | G | A | p.Q488X |
| STAD | TCGA-BR-4368-01 | exon_skip_53077 exon_skip_53076 | 101997779 | 101997988 | 101997844 | 101997844 | Nonsense_Mutation | T | A | p.K397* |
| STAD | TCGA-IN-7808-01 | exon_skip_53077 exon_skip_53076 | 101997779 | 101997988 | 101997883 | 101997883 | Nonsense_Mutation | C | A | p.E384* |
| STAD | TCGA-IN-7808-01 | exon_skip_53077 exon_skip_53076 | 101997779 | 101997988 | 101997883 | 101997883 | Nonsense_Mutation | C | A | p.E384X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-IN-7808-01 |
| Cancer type: STAD | |
| ESID: exon_skip_53076 | |
| Skipped exon start: 101997779 | |
| Skipped exon end: 101997988 | |
| Mutation start: 101997883 | |
| Mutation end: 101997883 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.E384X | |
| Sample: TCGA-IN-7808-01 |
| Cancer type: STAD | |
| ESID: exon_skip_53076 | |
| Skipped exon start: 101997779 | |
| Skipped exon end: 101997988 | |
| Mutation start: 101997883 | |
| Mutation end: 101997883 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.E384* | |
exon_skip_33815_STAD_TCGA-IN-7808-01.png | |
exon_skip_53077_STAD_TCGA-IN-7808-01.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 |
| HKA1_SKIN | 101996607 | 101996726 | 101996690 | 101996690 | Missense_Mutation | C | T | p.D431N |
| HEC6_ENDOMETRIUM | 101996607 | 101996726 | 101996714 | 101996714 | Missense_Mutation | G | T | p.P423T |
| ES2_OVARY | 101997779 | 101997988 | 101997846 | 101997846 | Missense_Mutation | A | C | p.F396C |
| SAS_UPPER_AERODIGESTIVE_TRACT | 101997779 | 101997988 | 101997925 | 101997925 | Missense_Mutation | G | A | p.H370Y |
| MDAMB415_BREAST | 102010005 | 102010089 | 102010016 | 102010016 | Missense_Mutation | C | G | p.E233Q |
| BT474_BREAST | 102010005 | 102010089 | 102010080 | 102010080 | Missense_Mutation | G | C | p.I211M |
| HCT15_LARGE_INTESTINE | 102016019 | 102016233 | 102016029 | 102016029 | Missense_Mutation | C | A | p.G165V |
| C33A_CERVIX | 102016019 | 102016233 | 102016042 | 102016042 | Missense_Mutation | C | T | p.V161M |
| SJSA1_BONE | 102016019 | 102016233 | 102016134 | 102016134 | Missense_Mutation | G | C | p.P130R |
| HS751T_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 102016019 | 102016233 | 102016176 | 102016176 | Missense_Mutation | G | T | p.T116K |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 102020723 | 102020785 | 102020744 | 102020744 | Missense_Mutation | A | G | p.Y56H |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 102020723 | 102020801 | 102020744 | 102020744 | Missense_Mutation | A | G | p.Y56H |
| HEC1A_ENDOMETRIUM | 102020723 | 102020785 | 102020762 | 102020762 | Missense_Mutation | C | A | p.D50Y |
| HEC1A_ENDOMETRIUM | 102020723 | 102020801 | 102020762 | 102020762 | Missense_Mutation | C | A | p.D50Y |
| C33A_CERVIX | 101997779 | 101997988 | 101997838 | 101997838 | Nonsense_Mutation | G | A | p.R399* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CWF19L1 |
| 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_53105 | 10 | 102013177:102013296:102016018:102016233:102020722:102020785 | 102016018:102016233 | ENST00000473842.1 | KIRC | rs2270962 | chr10:102016044 | C/T | 3.06e-05 |
| exon_skip_53104 | 10 | 102013177:102013296:102016018:102016233:102019974:102020076 | 102016018:102016233 | ENST00000354105.4 | KIRC | rs2270962 | chr10:102016044 | C/T | 3.06e-05 |
| exon_skip_53107 | 10 | 102013177:102013296:102016018:102016233:102027327:102027355 | 102016018:102016233 | ENST00000496796.1 | KIRC | rs2270962 | chr10:102016044 | C/T | 3.06e-05 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CWF19L1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CWF19L1 |
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RelatedDrugs for CWF19L1 |
| 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 CWF19L1 |
| 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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