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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 CTSW |
 Gene summary |
| Gene information | Gene symbol | CTSW | Gene ID | 1521 |
| Gene name | cathepsin W | |
| Synonyms | LYPN | |
| Cytomap | 11q13.1 | |
| Type of gene | protein-coding | |
| Description | cathepsin Wlymphopain | |
| Modification date | 20180523 | |
| UniProtAcc | P56202 | |
| Context | PubMed: CTSW [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 CTSW 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 CTSW |
| 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 CTSW |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_61289 | 11 | 65647328:65647412:65647672:65647757:65648877:65648991 | 65647672:65647757 | ENSG00000172543.3 | ENST00000526034.1,ENST00000528419.1 |
| exon_skip_61291 | 11 | 65647672:65647757:65648877:65648991:65649645:65649800 | 65648877:65648991 | ENSG00000172543.3 | ENST00000526034.1,ENST00000528419.1,ENST00000307886.3 |
| exon_skip_61292 | 11 | 65649645:65649800:65649900:65649997:65650079:65650160 | 65649900:65649997 | ENSG00000172543.3 | ENST00000528419.1,ENST00000307886.3 |
| exon_skip_61293 | 11 | 65649900:65649997:65650079:65650160:65650249:65650348 | 65650079:65650160 | ENSG00000172543.3 | ENST00000528419.1,ENST00000307886.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CTSW |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_61289 | 11 | 65647328:65647412:65647672:65647757:65648877:65648991 | 65647672:65647757 | ENSG00000172543.3 | ENST00000528419.1,ENST00000526034.1 |
| exon_skip_61291 | 11 | 65647672:65647757:65648877:65648991:65649645:65649800 | 65648877:65648991 | ENSG00000172543.3 | ENST00000307886.3,ENST00000528419.1,ENST00000526034.1 |
| exon_skip_61292 | 11 | 65649645:65649800:65649900:65649997:65650079:65650160 | 65649900:65649997 | ENSG00000172543.3 | ENST00000307886.3,ENST00000528419.1 |
| exon_skip_61293 | 11 | 65649900:65649997:65650079:65650160:65650249:65650348 | 65650079:65650160 | ENSG00000172543.3 | ENST00000307886.3,ENST00000528419.1 |
| 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 CTSW |
| 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 |
| ENST00000307886 | 65649900 | 65649997 | Frame-shift |
| ENST00000307886 | 65648877 | 65648991 | In-frame |
| ENST00000307886 | 65650079 | 65650160 | 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 |
| ENST00000307886 | 65649900 | 65649997 | Frame-shift |
| ENST00000307886 | 65648877 | 65648991 | In-frame |
| ENST00000307886 | 65650079 | 65650160 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CTSW |
| 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 |
| ENST00000307886 | 1317 | 376 | 65648877 | 65648991 | 219 | 332 | 57 | 95 |
| ENST00000307886 | 1317 | 376 | 65650079 | 65650160 | 585 | 665 | 179 | 206 |
| 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 |
| ENST00000307886 | 1317 | 376 | 65648877 | 65648991 | 219 | 332 | 57 | 95 |
| ENST00000307886 | 1317 | 376 | 65650079 | 65650160 | 585 | 665 | 179 | 206 |
| 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 |
| P56202 | 57 | 95 | 22 | 127 | Propeptide | ID=PRO_0000026327;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P56202 | 179 | 206 | 128 | 376 | Chain | ID=PRO_0000026328;Note=Cathepsin W |
| P56202 | 179 | 206 | 150 | 191 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P56202 | 179 | 206 | 184 | 226 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P56202 | 179 | 206 | 205 | 205 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P56202 | 179 | 206 | 179 | 179 | Sequence conflict | Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P56202 | 179 | 206 | 179 | 179 | Sequence conflict | Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P56202 | 179 | 206 | 179 | 179 | Sequence conflict | Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| P56202 | 57 | 95 | 22 | 127 | Propeptide | ID=PRO_0000026327;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P56202 | 179 | 206 | 128 | 376 | Chain | ID=PRO_0000026328;Note=Cathepsin W |
| P56202 | 179 | 206 | 150 | 191 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P56202 | 179 | 206 | 184 | 226 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P56202 | 179 | 206 | 205 | 205 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P56202 | 179 | 206 | 179 | 179 | Sequence conflict | Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P56202 | 179 | 206 | 179 | 179 | Sequence conflict | Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P56202 | 179 | 206 | 179 | 179 | Sequence conflict | Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for CTSW |
| - 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_61289 | 65647673 | 65647757 | 65647744 | 65647744 | Frame_Shift_Del | C | - | p.Y53fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_61289 | 65647673 | 65647757 | 65647744 | 65647744 | Frame_Shift_Del | C | - | p.Y53fs |
| STAD | TCGA-R5-A7ZI-01 | exon_skip_61291 | 65648878 | 65648991 | 65648964 | 65648964 | Frame_Shift_Del | G | - | p.F86fs |
| STAD | TCGA-R5-A7ZI-01 | exon_skip_61291 | 65648878 | 65648991 | 65648964 | 65648964 | Frame_Shift_Del | G | - | p.G87fs |
| LUSC | TCGA-18-3417-01 | exon_skip_61291 | 65648878 | 65648991 | 65648993 | 65648993 | Splice_Site | T | G | p.E96_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| LU134A_LUNG | 65647673 | 65647757 | 65647676 | 65647676 | Missense_Mutation | C | G | p.L31V |
| SNU1040_LARGE_INTESTINE | 65648878 | 65648991 | 65648895 | 65648895 | Missense_Mutation | G | A | p.D64N |
| LB831BLC_URINARY_TRACT | 65648878 | 65648991 | 65648907 | 65648907 | Missense_Mutation | C | A | p.H68N |
| NCIH2030_LUNG | 65648878 | 65648991 | 65648908 | 65648908 | Missense_Mutation | A | C | p.H68P |
| CORL311_LUNG | 65649901 | 65649997 | 65649942 | 65649942 | Missense_Mutation | C | A | p.N161K |
| WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 65649901 | 65649997 | 65649964 | 65649964 | Missense_Mutation | A | G | p.S169G |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 65649901 | 65649997 | 65649972 | 65649972 | Missense_Mutation | G | T | p.W171C |
| MJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 65649901 | 65649997 | 65649991 | 65649991 | Missense_Mutation | G | C | p.V178L |
| SBC5_LUNG | 65650080 | 65650160 | 65650088 | 65650088 | Missense_Mutation | G | T | p.D183Y |
| KM12_LARGE_INTESTINE | 65650080 | 65650160 | 65650104 | 65650104 | Missense_Mutation | G | A | p.G188E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CTSW |
| 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_61292 | 11 | 65649645:65649800:65649900:65649997:65650079:65650160 | 65649900:65649997 | ENST00000528419.1,ENST00000307886.3 | LAML | rs687672 | chr11:65649984 | T/C | 3.79e-05 |
| exon_skip_61292 | 11 | 65649645:65649800:65649900:65649997:65650079:65650160 | 65649900:65649997 | ENST00000528419.1,ENST00000307886.3 | LUAD | rs687672 | chr11:65649984 | T/C | 2.47e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CTSW |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CTSW |
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RelatedDrugs for CTSW |
| 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 CTSW |
| 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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