|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for CTSV |
 Gene summary |
| Gene information | Gene symbol | CTSV | Gene ID | 1515 |
| Gene name | cathepsin V | |
| Synonyms | CATL2|CTSL2|CTSU | |
| Cytomap | 9q22.33 | |
| Type of gene | protein-coding | |
| Description | cathepsin L2cathepsin L2, preproproteincathepsin U | |
| Modification date | 20180523 | |
| UniProtAcc | O60911 | |
| Context | PubMed: CTSV [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 |
Top |
Exon skipping events across known transcript of Ensembl for CTSV 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. |
 |
Top |
Gene isoform structures and expression levels for CTSV |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for CTSV |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_505263 | 9 | 99797809:99797975:99798804:99799029:99799533:99799680 | 99798804:99799029 | ENSG00000136943.6 | ENST00000538255.1,ENST00000259470.5 |
| exon_skip_505265 | 9 | 99798804:99799029:99799533:99799680:99799774:99799897 | 99799533:99799680 | ENSG00000136943.6 | ENST00000538255.1,ENST00000259470.5 |
| exon_skip_505269 | 9 | 99800199:99800335:99800692:99800830:99801352:99801424 | 99800692:99800830 | ENSG00000136943.6 | ENST00000479932.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for CTSV |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_505263 | 9 | 99797809:99797975:99798804:99799029:99799533:99799680 | 99798804:99799029 | ENSG00000136943.6 | ENST00000259470.5,ENST00000538255.1 |
| exon_skip_505265 | 9 | 99798804:99799029:99799533:99799680:99799774:99799897 | 99799533:99799680 | ENSG00000136943.6 | ENST00000259470.5,ENST00000538255.1 |
| exon_skip_505269 | 9 | 99800199:99800335:99800692:99800830:99801352:99801424 | 99800692:99800830 | ENSG00000136943.6 | ENST00000479932.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for CTSV |
| 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 |
| ENST00000259470 | 99798804 | 99799029 | In-frame |
| ENST00000538255 | 99798804 | 99799029 | In-frame |
| ENST00000259470 | 99799533 | 99799680 | In-frame |
| ENST00000538255 | 99799533 | 99799680 | 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 |
| ENST00000259470 | 99798804 | 99799029 | In-frame |
| ENST00000538255 | 99798804 | 99799029 | In-frame |
| ENST00000259470 | 99799533 | 99799680 | In-frame |
| ENST00000538255 | 99799533 | 99799680 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for CTSV |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
| ENST00000259470 | 1563 | 334 | 99799533 | 99799680 | 500 | 646 | 83 | 132 |
| ENST00000538255 | 1069 | 334 | 99799533 | 99799680 | 297 | 443 | 83 | 132 |
| ENST00000259470 | 1563 | 334 | 99798804 | 99799029 | 647 | 871 | 132 | 207 |
| ENST00000538255 | 1069 | 334 | 99798804 | 99799029 | 444 | 668 | 132 | 207 |
| 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 |
| ENST00000259470 | 1563 | 334 | 99799533 | 99799680 | 500 | 646 | 83 | 132 |
| ENST00000538255 | 1069 | 334 | 99799533 | 99799680 | 297 | 443 | 83 | 132 |
| ENST00000259470 | 1563 | 334 | 99798804 | 99799029 | 647 | 871 | 132 | 207 |
| ENST00000538255 | 1069 | 334 | 99798804 | 99799029 | 444 | 668 | 132 | 207 |
| 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 |
| O60911 | 83 | 132 | 114 | 334 | Chain | ID=PRO_0000026278;Note=Cathepsin L2 |
| O60911 | 83 | 132 | 114 | 334 | Chain | ID=PRO_0000026278;Note=Cathepsin L2 |
| O60911 | 83 | 132 | 120 | 123 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1FH0 |
| O60911 | 83 | 132 | 120 | 123 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1FH0 |
| O60911 | 83 | 132 | 18 | 113 | Propeptide | ID=PRO_0000026277;Note=Activation peptide |
| O60911 | 83 | 132 | 18 | 113 | Propeptide | ID=PRO_0000026277;Note=Activation peptide |
| O60911 | 132 | 207 | 138 | 138 | Active site | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11027133;Dbxref=PMID:11027133 |
| O60911 | 132 | 207 | 138 | 138 | Active site | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11027133;Dbxref=PMID:11027133 |
| O60911 | 132 | 207 | 196 | 198 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1FH0 |
| O60911 | 132 | 207 | 196 | 198 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1FH0 |
| O60911 | 132 | 207 | 114 | 334 | Chain | ID=PRO_0000026278;Note=Cathepsin L2 |
| O60911 | 132 | 207 | 114 | 334 | Chain | ID=PRO_0000026278;Note=Cathepsin L2 |
| O60911 | 132 | 207 | 135 | 178 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:1FH0,ECO:0000244|PDB:3H6S,ECO:0000244|PDB:3KFQ,ECO:0000269|PubMed:11027133;Dbxref=PMID:11027133 |
| O60911 | 132 | 207 | 135 | 178 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:1FH0,ECO:0000244|PDB:3H6S,ECO:0000244|PDB:3KFQ,ECO:0000269|PubMed:11027133;Dbxref=PMID:11027133 |
| O60911 | 132 | 207 | 169 | 211 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:1FH0,ECO:0000244|PDB:3H6S,ECO:0000244|PDB:3KFQ,ECO:0000269|PubMed:11027133;Dbxref=PMID:11027133 |
| O60911 | 132 | 207 | 169 | 211 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:1FH0,ECO:0000244|PDB:3H6S,ECO:0000244|PDB:3KFQ,ECO:0000269|PubMed:11027133;Dbxref=PMID:11027133 |
| O60911 | 132 | 207 | 138 | 155 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1FH0 |
| O60911 | 132 | 207 | 138 | 155 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1FH0 |
| O60911 | 132 | 207 | 163 | 169 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1FH0 |
| O60911 | 132 | 207 | 163 | 169 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1FH0 |
| O60911 | 132 | 207 | 171 | 173 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1FH0 |
| O60911 | 132 | 207 | 171 | 173 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1FH0 |
| O60911 | 132 | 207 | 177 | 179 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1FH0 |
| O60911 | 132 | 207 | 177 | 179 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1FH0 |
| O60911 | 132 | 207 | 183 | 193 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1FH0 |
| O60911 | 132 | 207 | 183 | 193 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1FH0 |
| O60911 | 132 | 207 | 199 | 201 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1FH0 |
| O60911 | 132 | 207 | 199 | 201 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1FH0 |
| 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 |
| O60911 | 83 | 132 | 114 | 334 | Chain | ID=PRO_0000026278;Note=Cathepsin L2 |
| O60911 | 83 | 132 | 114 | 334 | Chain | ID=PRO_0000026278;Note=Cathepsin L2 |
| O60911 | 83 | 132 | 120 | 123 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1FH0 |
| O60911 | 83 | 132 | 120 | 123 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1FH0 |
| O60911 | 83 | 132 | 18 | 113 | Propeptide | ID=PRO_0000026277;Note=Activation peptide |
| O60911 | 83 | 132 | 18 | 113 | Propeptide | ID=PRO_0000026277;Note=Activation peptide |
| O60911 | 132 | 207 | 138 | 138 | Active site | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11027133;Dbxref=PMID:11027133 |
| O60911 | 132 | 207 | 138 | 138 | Active site | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11027133;Dbxref=PMID:11027133 |
| O60911 | 132 | 207 | 196 | 198 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1FH0 |
| O60911 | 132 | 207 | 196 | 198 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1FH0 |
| O60911 | 132 | 207 | 114 | 334 | Chain | ID=PRO_0000026278;Note=Cathepsin L2 |
| O60911 | 132 | 207 | 114 | 334 | Chain | ID=PRO_0000026278;Note=Cathepsin L2 |
| O60911 | 132 | 207 | 135 | 178 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:1FH0,ECO:0000244|PDB:3H6S,ECO:0000244|PDB:3KFQ,ECO:0000269|PubMed:11027133;Dbxref=PMID:11027133 |
| O60911 | 132 | 207 | 135 | 178 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:1FH0,ECO:0000244|PDB:3H6S,ECO:0000244|PDB:3KFQ,ECO:0000269|PubMed:11027133;Dbxref=PMID:11027133 |
| O60911 | 132 | 207 | 169 | 211 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:1FH0,ECO:0000244|PDB:3H6S,ECO:0000244|PDB:3KFQ,ECO:0000269|PubMed:11027133;Dbxref=PMID:11027133 |
| O60911 | 132 | 207 | 169 | 211 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:1FH0,ECO:0000244|PDB:3H6S,ECO:0000244|PDB:3KFQ,ECO:0000269|PubMed:11027133;Dbxref=PMID:11027133 |
| O60911 | 132 | 207 | 138 | 155 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1FH0 |
| O60911 | 132 | 207 | 138 | 155 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1FH0 |
| O60911 | 132 | 207 | 163 | 169 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1FH0 |
| O60911 | 132 | 207 | 163 | 169 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1FH0 |
| O60911 | 132 | 207 | 171 | 173 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1FH0 |
| O60911 | 132 | 207 | 171 | 173 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1FH0 |
| O60911 | 132 | 207 | 177 | 179 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1FH0 |
| O60911 | 132 | 207 | 177 | 179 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1FH0 |
| O60911 | 132 | 207 | 183 | 193 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1FH0 |
| O60911 | 132 | 207 | 183 | 193 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1FH0 |
| O60911 | 132 | 207 | 199 | 201 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1FH0 |
| O60911 | 132 | 207 | 199 | 201 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1FH0 |
Top |
SNVs in the skipped exons for CTSV |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - 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-A39Y-01 | exon_skip_505263 | 99798805 | 99799029 | 99798864 | 99798864 | Frame_Shift_Del | G | - | p.Q188fs |
| LUAD | TCGA-05-5420-01 | exon_skip_505263 | 99798805 | 99799029 | 99798905 | 99798905 | Frame_Shift_Del | C | - | p.G174fs |
| PAAD | TCGA-3A-A9IN-01 | exon_skip_505265 | 99799534 | 99799680 | 99799590 | 99799590 | Frame_Shift_Del | G | - | p.L114fs |
| LUAD | TCGA-50-6594-01 | exon_skip_505265 | 99799534 | 99799680 | 99799652 | 99799652 | Frame_Shift_Del | C | - | p.G93fs |
| LIHC | TCGA-BC-A10S-01 | exon_skip_505263 | 99798805 | 99799029 | 99798872 | 99798873 | Frame_Shift_Ins | - | T | p.G185fs |
| SKCM | TCGA-D3-A3MR-06 | exon_skip_505265 | 99799534 | 99799680 | 99799644 | 99799644 | Nonsense_Mutation | G | A | p.R96* |
| SKCM | TCGA-GF-A6C9-06 | exon_skip_505265 | 99799534 | 99799680 | 99799644 | 99799644 | Nonsense_Mutation | G | A | p.R96* |
| - 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 |
| CHAGOK1_LUNG | 99798805 | 99799029 | 99798833 | 99798833 | Missense_Mutation | G | A | p.S198F |
| SNU1040_LARGE_INTESTINE | 99798805 | 99799029 | 99798998 | 99798998 | Missense_Mutation | G | A | p.A143V |
| NCIH209_LUNG | 99799534 | 99799680 | 99799611 | 99799611 | Missense_Mutation | G | A | p.R107C |
| NCIBL209_MATCHED_NORMAL_TISSUE | 99799534 | 99799680 | 99799611 | 99799611 | Missense_Mutation | G | A | p.R107C |
| SARC9371_BONE | 99799534 | 99799680 | 99799643 | 99799643 | Missense_Mutation | C | T | p.R96Q |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CTSV |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CTSV |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CTSV |
Top |
RelatedDrugs for CTSV |
| 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 |
Top |
RelatedDiseases for CTSV |
| 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)
|