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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 CTSK |
 Gene summary |
| Gene information | Gene symbol | CTSK | Gene ID | 1513 |
| Gene name | cathepsin K | |
| Synonyms | CTS02|CTSO|CTSO1|CTSO2|PKND|PYCD | |
| Cytomap | 1q21.3 | |
| Type of gene | protein-coding | |
| Description | cathepsin Kcathepsin Ocathepsin O1cathepsin O2cathepsin X | |
| Modification date | 20180523 | |
| UniProtAcc | P43235 | |
| Context | PubMed: CTSK [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 |
| CTSK | GO:0030574 | collagen catabolic process | 22952693 |
| CTSK | GO:0051603 | proteolysis involved in cellular protein catabolic process | 22952693 |
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Exon skipping events across known transcript of Ensembl for CTSK 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 CTSK |
| 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 CTSK |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_30322 | 1 | 150768683:150769374:150771643:150771749:150772019:150772181 | 150771643:150771749 | ENSG00000143387.8 | ENST00000271651.3 |
| exon_skip_30324 | 1 | 150772019:150772185:150776496:150776715:150778336:150778492 | 150776496:150776715 | ENSG00000143387.8 | ENST00000271651.3 |
| exon_skip_30325 | 1 | 150776516:150776715:150778336:150778492:150779161:150779244 | 150778336:150778492 | ENSG00000143387.8 | ENST00000480670.1 |
| exon_skip_30326 | 1 | 150778336:150778492:150778577:150778700:150779161:150779244 | 150778577:150778700 | ENSG00000143387.8 | ENST00000271651.3,ENST00000443913.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CTSK |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_30322 | 1 | 150768683:150769374:150771643:150771749:150772019:150772181 | 150771643:150771749 | ENSG00000143387.8 | ENST00000271651.3 |
| exon_skip_30324 | 1 | 150772019:150772185:150776496:150776715:150778336:150778492 | 150776496:150776715 | ENSG00000143387.8 | ENST00000271651.3 |
| exon_skip_30325 | 1 | 150776516:150776715:150778336:150778492:150779161:150779244 | 150778336:150778492 | ENSG00000143387.8 | ENST00000480670.1 |
| exon_skip_30326 | 1 | 150778336:150778492:150778577:150778700:150779161:150779244 | 150778577:150778700 | ENSG00000143387.8 | ENST00000271651.3,ENST00000443913.1 |
| 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 CTSK |
| 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 |
| ENST00000271651 | 150771643 | 150771749 | Frame-shift |
| ENST00000271651 | 150776496 | 150776715 | In-frame |
| ENST00000271651 | 150778577 | 150778700 | 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 |
| ENST00000271651 | 150771643 | 150771749 | Frame-shift |
| ENST00000271651 | 150776496 | 150776715 | In-frame |
| ENST00000271651 | 150778577 | 150778700 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CTSK |
| 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 |
| ENST00000271651 | 1709 | 329 | 150778577 | 150778700 | 232 | 354 | 40 | 81 |
| ENST00000271651 | 1709 | 329 | 150776496 | 150776715 | 511 | 729 | 133 | 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 |
| ENST00000271651 | 1709 | 329 | 150778577 | 150778700 | 232 | 354 | 40 | 81 |
| ENST00000271651 | 1709 | 329 | 150776496 | 150776715 | 511 | 729 | 133 | 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 |
| P43235 | 40 | 81 | 70 | 73 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BY8 |
| P43235 | 40 | 81 | 79 | 81 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BY8 |
| P43235 | 40 | 81 | 40 | 66 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BY8 |
| P43235 | 40 | 81 | 79 | 79 | Natural variant | ID=VAR_015738;Note=In PKND. G->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10491211,ECO:0000269|PubMed:10878663;Dbxref=dbSNP:rs74315305,PMID:10491211,PMID:10878663 |
| P43235 | 40 | 81 | 16 | 114 | Propeptide | ID=PRO_0000026295;Note=Activation peptide |
| P43235 | 40 | 81 | 46 | 46 | Sequence conflict | Note=R->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P43235 | 133 | 206 | 139 | 139 | Active site | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P43235 | 133 | 206 | 135 | 137 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KX1 |
| P43235 | 133 | 206 | 195 | 197 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4X6H |
| P43235 | 133 | 206 | 115 | 329 | Chain | ID=PRO_0000026296;Note=Cathepsin K |
| P43235 | 133 | 206 | 136 | 177 | Disulfide bond | . |
| P43235 | 133 | 206 | 170 | 210 | Disulfide bond | . |
| P43235 | 133 | 206 | 139 | 156 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4X6H |
| P43235 | 133 | 206 | 164 | 170 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4X6H |
| P43235 | 133 | 206 | 176 | 178 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4X6H |
| P43235 | 133 | 206 | 182 | 192 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4X6H |
| P43235 | 133 | 206 | 146 | 146 | Natural variant | ID=VAR_006725;Note=In PKND. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8703060;Dbxref=dbSNP:rs74315302,PMID:8703060 |
| P43235 | 133 | 206 | 198 | 200 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4X6H |
| 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 |
| P43235 | 40 | 81 | 70 | 73 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BY8 |
| P43235 | 40 | 81 | 79 | 81 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BY8 |
| P43235 | 40 | 81 | 40 | 66 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BY8 |
| P43235 | 40 | 81 | 79 | 79 | Natural variant | ID=VAR_015738;Note=In PKND. G->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10491211,ECO:0000269|PubMed:10878663;Dbxref=dbSNP:rs74315305,PMID:10491211,PMID:10878663 |
| P43235 | 40 | 81 | 16 | 114 | Propeptide | ID=PRO_0000026295;Note=Activation peptide |
| P43235 | 40 | 81 | 46 | 46 | Sequence conflict | Note=R->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P43235 | 133 | 206 | 139 | 139 | Active site | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P43235 | 133 | 206 | 135 | 137 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KX1 |
| P43235 | 133 | 206 | 195 | 197 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4X6H |
| P43235 | 133 | 206 | 115 | 329 | Chain | ID=PRO_0000026296;Note=Cathepsin K |
| P43235 | 133 | 206 | 136 | 177 | Disulfide bond | . |
| P43235 | 133 | 206 | 170 | 210 | Disulfide bond | . |
| P43235 | 133 | 206 | 139 | 156 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4X6H |
| P43235 | 133 | 206 | 164 | 170 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4X6H |
| P43235 | 133 | 206 | 176 | 178 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4X6H |
| P43235 | 133 | 206 | 182 | 192 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4X6H |
| P43235 | 133 | 206 | 146 | 146 | Natural variant | ID=VAR_006725;Note=In PKND. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8703060;Dbxref=dbSNP:rs74315302,PMID:8703060 |
| P43235 | 133 | 206 | 198 | 200 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4X6H |
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SNVs in the skipped exons for CTSK |
| - 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-G3-A3CJ-01 | exon_skip_30324 | 150776497 | 150776715 | 150776622 | 150776622 | Frame_Shift_Del | G | - | p.Q165fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_30325 | 150778337 | 150778492 | 150778341 | 150778341 | Frame_Shift_Del | T | - | p.N132fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_30326 | 150778578 | 150778700 | 150778663 | 150778663 | Frame_Shift_Del | T | - | p.N53fs |
| STAD | TCGA-CG-4442-01 | exon_skip_30326 | 150778578 | 150778700 | 150778663 | 150778663 | Frame_Shift_Del | T | - | p.N53fs |
| BLCA | TCGA-DK-A6AW-01 | exon_skip_30326 | 150778578 | 150778700 | 150778662 | 150778663 | Frame_Shift_Ins | - | T | p.N53fs |
| LUAD | TCGA-55-8506-01 | exon_skip_30326 | 150778578 | 150778700 | 150778662 | 150778663 | Frame_Shift_Ins | - | T | p.T53fs |
| LIHC | TCGA-NI-A4U2-01 | exon_skip_30325 | 150778337 | 150778492 | 150778408 | 150778408 | Nonsense_Mutation | C | A | p.E110* |
| LIHC | TCGA-NI-A4U2-01 | exon_skip_30325 | 150778337 | 150778492 | 150778408 | 150778408 | Nonsense_Mutation | C | A | p.E110X |
| KIRC | TCGA-AK-3456-01 | exon_skip_30326 | 150778578 | 150778700 | 150778608 | 150778608 | Nonsense_Mutation | A | T | p.Y71X |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_30324 | 150776497 | 150776715 | 150776717 | 150776717 | Splice_Site | T | G | e4-2 |
| - 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 |
| SW48_LARGE_INTESTINE | 150778578 | 150778700 | 150778663 | 150778663 | Frame_Shift_Del | T | - | p.N53fs |
| EB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 150778578 | 150778700 | 150778662 | 150778663 | Frame_Shift_Ins | - | T | p.N53fs |
| HCC2429_LUNG | 150778578 | 150778700 | 150778662 | 150778663 | Frame_Shift_Ins | - | T | p.N53fs |
| SF539_CENTRAL_NERVOUS_SYSTEM | 150778578 | 150778700 | 150778662 | 150778663 | Frame_Shift_Ins | - | T | p.N53fs |
| SNU1040_LARGE_INTESTINE | 150771644 | 150771749 | 150771746 | 150771746 | Missense_Mutation | A | T | p.V263E |
| MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 150776497 | 150776715 | 150776537 | 150776537 | Missense_Mutation | C | T | p.R193Q |
| SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 150776497 | 150776715 | 150776580 | 150776580 | Missense_Mutation | C | T | p.G179R |
| SNU387_LIVER | 150776497 | 150776715 | 150776588 | 150776588 | Missense_Mutation | C | G | p.G176A |
| CL34_LARGE_INTESTINE | 150776497 | 150776715 | 150776591 | 150776591 | Missense_Mutation | T | C | p.D175G |
| EGI1_BILIARY_TRACT | 150776497 | 150776715 | 150776653 | 150776653 | Missense_Mutation | C | A | p.K154N |
| OCUBM_BREAST | 150778337 | 150778492 | 150778351 | 150778351 | Missense_Mutation | G | T | p.P129T |
| PK45H_PANCREAS | 150778337 | 150778492 | 150778441 | 150778441 | Missense_Mutation | G | A | p.H99Y |
| KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 150778337 | 150778492 | 150778472 | 150778472 | Missense_Mutation | C | A | p.Q88H |
| NCIH810_LUNG | 150778337 | 150778492 | 150778479 | 150778479 | Missense_Mutation | A | G | p.V86A |
| SISO_CERVIX | 150778578 | 150778700 | 150778582 | 150778582 | Missense_Mutation | T | C | p.D80G |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 150778578 | 150778700 | 150778582 | 150778582 | Missense_Mutation | T | C | p.D80G |
| NCIH1869_LUNG | 150778578 | 150778700 | 150778669 | 150778669 | Missense_Mutation | T | C | p.E51G |
| HEC1_ENDOMETRIUM | 150778578 | 150778700 | 150778669 | 150778669 | Missense_Mutation | T | C | p.E51G |
| SNU1040_LARGE_INTESTINE | 150778578 | 150778700 | 150778682 | 150778682 | Missense_Mutation | G | A | p.R47C |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CTSK |
| 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 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CTSK |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CTSK |
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RelatedDrugs for CTSK |
| 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 CTSK |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CTSK | C0238402 | Pycnodysostosis | 5 | CTD_human;ORPHANET;UNIPROT |
| CTSK | C0036341 | Schizophrenia | 2 | PSYGENET |
| CTSK | C0017636 | Glioblastoma | 1 | CTD_human |
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