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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 CTSH |
 Gene summary |
| Gene information | Gene symbol | CTSH | Gene ID | 1512 |
| Gene name | cathepsin H | |
| Synonyms | ACC-4|ACC-5|ACC4|ACC5|CPSB | |
| Cytomap | 15q25.1 | |
| Type of gene | protein-coding | |
| Description | pro-cathepsin HN-benzoylarginine-beta-naphthylamide hydrolasealeuraincathepsin B3cathepsin BA | |
| Modification date | 20180523 | |
| UniProtAcc | P09668 | |
| Context | PubMed: CTSH [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 |
| CTSH | GO:0002764 | immune response-regulating signaling pathway | 16822283 |
| CTSH | GO:0006508 | proteolysis | 6203523|8811434 |
| CTSH | GO:0010628 | positive regulation of gene expression | 21217776 |
| CTSH | GO:0010813 | neuropeptide catabolic process | 15127951 |
| CTSH | GO:0010815 | bradykinin catabolic process | 15127951 |
| CTSH | GO:0010952 | positive regulation of peptidase activity | 20435891 |
| CTSH | GO:0030335 | positive regulation of cell migration | 21217776 |
| CTSH | GO:0031638 | zymogen activation | 20435891 |
| CTSH | GO:0033619 | membrane protein proteolysis | 14766755 |
| CTSH | GO:0043129 | surfactant homeostasis | 18216060 |
| CTSH | GO:0070371 | ERK1 and ERK2 cascade | 21217776 |
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Exon skipping events across known transcript of Ensembl for CTSH 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 CTSH |
| 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 CTSH |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_130052 | 15 | 79214458:79214547:79215334:79215460:79217675:79217782 | 79215334:79215460 | ENSG00000103811.11 | ENST00000525807.1,ENST00000527715.1,ENST00000533777.1,ENST00000220166.5,ENST00000534237.1 |
| exon_skip_130085 | 15 | 79217675:79217782:79220054:79220123:79221753:79221835 | 79220054:79220123 | ENSG00000103811.11 | ENST00000525807.1,ENST00000533777.1,ENST00000220166.5,ENST00000534533.1,ENST00000534237.1 |
| exon_skip_130090 | 15 | 79220054:79220123:79221753:79221835:79223792:79223848 | 79221753:79221835 | ENSG00000103811.11 | ENST00000525807.1,ENST00000527138.1,ENST00000533777.1,ENST00000220166.5,ENST00000534533.1,ENST00000534237.1,ENST00000529612.1 |
| exon_skip_130095 | 15 | 79223792:79223848:79224713:79224800:79227319:79227424 | 79224713:79224800 | ENSG00000103811.11 | ENST00000529263.2,ENST00000529861.1,ENST00000528741.1,ENST00000220166.5,ENST00000534533.1,ENST00000529612.1 |
| exon_skip_130097 | 15 | 79228021:79228092:79229659:79229765:79231481:79231508 | 79229659:79229765 | ENSG00000103811.11 | ENST00000529861.1,ENST00000530010.1,ENST00000530929.1,ENST00000534038.1,ENST00000220166.5 |
| exon_skip_130099 | 15 | 79228021:79228092:79229659:79229838:79231481:79231508 | 79229659:79229838 | ENSG00000103811.11 | ENST00000528741.1 |
| exon_skip_130105 | 15 | 79229659:79229765:79230027:79230165:79231481:79231508 | 79230027:79230165 | ENSG00000103811.11 | ENST00000533777.1 |
| exon_skip_130109 | 15 | 79229659:79229765:79231481:79231513:79237119:79237436 | 79231481:79231513 | ENSG00000103811.11 | ENST00000529861.1 |
| exon_skip_130110 | 15 | 79229659:79229765:79231481:79231513:79237232:79237340 | 79231481:79231513 | ENSG00000103811.11 | ENST00000530010.1,ENST00000534038.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CTSH |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_130052 | 15 | 79214458:79214547:79215334:79215460:79217675:79217782 | 79215334:79215460 | ENSG00000103811.11 | ENST00000220166.5,ENST00000527715.1,ENST00000525807.1,ENST00000533777.1,ENST00000534237.1 |
| exon_skip_130085 | 15 | 79217675:79217782:79220054:79220123:79221753:79221835 | 79220054:79220123 | ENSG00000103811.11 | ENST00000220166.5,ENST00000525807.1,ENST00000533777.1,ENST00000534237.1,ENST00000534533.1 |
| exon_skip_130090 | 15 | 79220054:79220123:79221753:79221835:79223792:79223848 | 79221753:79221835 | ENSG00000103811.11 | ENST00000220166.5,ENST00000525807.1,ENST00000533777.1,ENST00000534237.1,ENST00000534533.1,ENST00000527138.1,ENST00000529612.1 |
| exon_skip_130095 | 15 | 79223792:79223848:79224713:79224800:79227319:79227424 | 79224713:79224800 | ENSG00000103811.11 | ENST00000220166.5,ENST00000534533.1,ENST00000529612.1,ENST00000529861.1,ENST00000528741.1,ENST00000529263.2 |
| exon_skip_130097 | 15 | 79228021:79228092:79229659:79229765:79231481:79231508 | 79229659:79229765 | ENSG00000103811.11 | ENST00000220166.5,ENST00000529861.1,ENST00000534038.1,ENST00000530010.1,ENST00000530929.1 |
| exon_skip_130099 | 15 | 79228021:79228092:79229659:79229838:79231481:79231508 | 79229659:79229838 | ENSG00000103811.11 | ENST00000528741.1 |
| exon_skip_130105 | 15 | 79229659:79229765:79230027:79230165:79231481:79231508 | 79230027:79230165 | ENSG00000103811.11 | ENST00000533777.1 |
| exon_skip_130109 | 15 | 79229659:79229765:79231481:79231513:79237119:79237436 | 79231481:79231513 | ENSG00000103811.11 | ENST00000529861.1 |
| exon_skip_130110 | 15 | 79229659:79229765:79231481:79231513:79237232:79237340 | 79231481:79231513 | ENSG00000103811.11 | ENST00000534038.1,ENST00000530010.1 |
| 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 CTSH |
| 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 |
| ENST00000220166 | 79221753 | 79221835 | Frame-shift |
| ENST00000220166 | 79229659 | 79229765 | Frame-shift |
| ENST00000220166 | 79215334 | 79215460 | In-frame |
| ENST00000220166 | 79220054 | 79220123 | In-frame |
| ENST00000220166 | 79224713 | 79224800 | 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 |
| ENST00000220166 | 79221753 | 79221835 | Frame-shift |
| ENST00000220166 | 79229659 | 79229765 | Frame-shift |
| ENST00000220166 | 79215334 | 79215460 | In-frame |
| ENST00000220166 | 79220054 | 79220123 | In-frame |
| ENST00000220166 | 79224713 | 79224800 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CTSH |
| 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 |
| ENST00000220166 | 2207 | 335 | 79224713 | 79224800 | 516 | 602 | 135 | 164 |
| ENST00000220166 | 2207 | 335 | 79220054 | 79220123 | 741 | 809 | 210 | 233 |
| ENST00000220166 | 2207 | 335 | 79215334 | 79215460 | 917 | 1042 | 269 | 310 |
| 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 |
| ENST00000220166 | 2207 | 335 | 79224713 | 79224800 | 516 | 602 | 135 | 164 |
| ENST00000220166 | 2207 | 335 | 79220054 | 79220123 | 741 | 809 | 210 | 233 |
| ENST00000220166 | 2207 | 335 | 79215334 | 79215460 | 917 | 1042 | 269 | 310 |
| 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 |
| P09668 | 135 | 164 | 141 | 141 | Active site | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P09668 | 135 | 164 | 116 | 335 | Chain | ID=PRO_0000026209;Note=Cathepsin H |
| P09668 | 135 | 164 | 116 | 292 | Chain | ID=PRO_0000026210;Note=Cathepsin H heavy chain |
| P09668 | 135 | 164 | 102 | 327 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P09668 | 135 | 164 | 138 | 181 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P09668 | 210 | 233 | 116 | 335 | Chain | ID=PRO_0000026209;Note=Cathepsin H |
| P09668 | 210 | 233 | 116 | 292 | Chain | ID=PRO_0000026210;Note=Cathepsin H heavy chain |
| P09668 | 210 | 233 | 102 | 327 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P09668 | 210 | 233 | 172 | 214 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P09668 | 210 | 233 | 230 | 230 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:3342889;Dbxref=PMID:19159218,PMID:3342889 |
| P09668 | 269 | 310 | 281 | 281 | Active site | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P09668 | 269 | 310 | 301 | 301 | Active site | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P09668 | 269 | 310 | 116 | 335 | Chain | ID=PRO_0000026209;Note=Cathepsin H |
| P09668 | 269 | 310 | 116 | 292 | Chain | ID=PRO_0000026210;Note=Cathepsin H heavy chain |
| P09668 | 269 | 310 | 293 | 335 | Chain | ID=PRO_0000026211;Note=Cathepsin H light chain |
| P09668 | 269 | 310 | 102 | 327 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P09668 | 269 | 310 | 272 | 322 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P09668 | 269 | 310 | 306 | 306 | Sequence conflict | Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P09668 | 269 | 310 | 306 | 306 | Sequence conflict | Note=Q->E;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 |
| P09668 | 135 | 164 | 141 | 141 | Active site | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P09668 | 135 | 164 | 116 | 335 | Chain | ID=PRO_0000026209;Note=Cathepsin H |
| P09668 | 135 | 164 | 116 | 292 | Chain | ID=PRO_0000026210;Note=Cathepsin H heavy chain |
| P09668 | 135 | 164 | 102 | 327 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P09668 | 135 | 164 | 138 | 181 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P09668 | 210 | 233 | 116 | 335 | Chain | ID=PRO_0000026209;Note=Cathepsin H |
| P09668 | 210 | 233 | 116 | 292 | Chain | ID=PRO_0000026210;Note=Cathepsin H heavy chain |
| P09668 | 210 | 233 | 102 | 327 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P09668 | 210 | 233 | 172 | 214 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P09668 | 210 | 233 | 230 | 230 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:3342889;Dbxref=PMID:19159218,PMID:3342889 |
| P09668 | 269 | 310 | 281 | 281 | Active site | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P09668 | 269 | 310 | 301 | 301 | Active site | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P09668 | 269 | 310 | 116 | 335 | Chain | ID=PRO_0000026209;Note=Cathepsin H |
| P09668 | 269 | 310 | 116 | 292 | Chain | ID=PRO_0000026210;Note=Cathepsin H heavy chain |
| P09668 | 269 | 310 | 293 | 335 | Chain | ID=PRO_0000026211;Note=Cathepsin H light chain |
| P09668 | 269 | 310 | 102 | 327 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P09668 | 269 | 310 | 272 | 322 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P09668 | 269 | 310 | 306 | 306 | Sequence conflict | Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P09668 | 269 | 310 | 306 | 306 | Sequence conflict | Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for CTSH |
| - 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. |
CTSH_DLBC_exon_skip_130090_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 |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_130052 | 79215335 | 79215460 | 79215392 | 79215392 | Frame_Shift_Del | T | - | p.N292fs |
| STAD | TCGA-BR-6802-01 | exon_skip_130052 | 79215335 | 79215460 | 79215392 | 79215392 | Frame_Shift_Del | T | - | p.N292fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_130097 | 79229660 | 79229765 | 79229703 | 79229703 | Frame_Shift_Del | C | - | p.W62fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_130099 | 79229660 | 79229838 | 79229703 | 79229703 | Frame_Shift_Del | C | - | p.W62fs |
| COAD | TCGA-F4-6856-01 | exon_skip_130052 | 79215335 | 79215460 | 79215391 | 79215392 | Frame_Shift_Ins | - | T | p.N292fs |
| THCA | TCGA-BJ-A45K-01 | exon_skip_130085 | 79220055 | 79220123 | 79220056 | 79220057 | Frame_Shift_Ins | - | T | p.I233fs |
| DLBC | TCGA-FA-A86F-01 | exon_skip_130090 | 79221754 | 79221835 | 79221796 | 79221797 | Frame_Shift_Ins | - | T | p.N196fs |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-DD-A1EG-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_130099 | |
| Skipped exon start: 79229660 | |
| Skipped exon end: 79229838 | |
| Mutation start: 79229703 | |
| Mutation end: 79229703 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.W62fs | |
| Sample: TCGA-DD-A1EG-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_130097 | |
| Skipped exon start: 79229660 | |
| Skipped exon end: 79229765 | |
| Mutation start: 79229703 | |
| Mutation end: 79229703 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.W62fs | |
exon_skip_103075_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_100809_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_101656_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_10700_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_109033_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_110000_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_110381_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_110545_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_11218_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_11256_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_11259_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_11263_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_115462_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_115587_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_116330_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_121002_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_123667_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_12440_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_125045_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_129202_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_129996_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_130099_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_13071_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_131505_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_131697_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_133542_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_133548_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_134792_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_135418_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_135741_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_135763_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_135820_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_13608_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_138255_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_138373_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_138947_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_140996_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_141914_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_143553_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_143841_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_143843_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_144075_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_144116_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_144125_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_146762_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_146776_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_146807_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_14772_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_148738_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_148740_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_14897_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_14899_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_15042_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_150985_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_153494_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_155021_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_16928_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_17317_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_17318_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_17943_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_18708_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_19048_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_1906_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_19372_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_19902_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_20061_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_22876_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_2523_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_26461_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_27038_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_27065_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_283878_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_284109_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_288112_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_290222_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_290223_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_29032_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_290_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_291361_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_291973_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_29487_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_295443_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_297892_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_299242_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_30164_LIHC_TCGA-DD-A1EG-01.png | |
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 | Sample: TCGA-FA-A86F-01 |
| Cancer type: DLBC | |
| ESID: exon_skip_130090 | |
| Skipped exon start: 79221754 | |
| Skipped exon end: 79221835 | |
| Mutation start: 79221796 | |
| Mutation end: 79221797 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: T | |
| AAchange: p.N196fs | |
exon_skip_130090_DLBC_TCGA-FA-A86F-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 |
| DOV13_OVARY | 79215335 | 79215460 | 79215365 | 79215365 | Frame_Shift_Del | T | - | p.N301fs |
| TGBC11TKB_STOMACH | 79215335 | 79215460 | 79215391 | 79215392 | Frame_Shift_Ins | - | T | p.N292fs |
| CORL47_LUNG | 79215335 | 79215460 | 79215391 | 79215392 | Frame_Shift_Ins | - | T | p.N292fs |
| TE4_OESOPHAGUS | 79215335 | 79215460 | 79215381 | 79215381 | Missense_Mutation | A | G | p.Y296H |
| KYSE410_OESOPHAGUS | 79215335 | 79215460 | 79215401 | 79215401 | Missense_Mutation | C | T | p.G289E |
| NCIH835_LUNG | 79215335 | 79215460 | 79215449 | 79215449 | Missense_Mutation | T | C | p.H273R |
| 639V_URINARY_TRACT | 79220055 | 79220123 | 79220068 | 79220068 | Missense_Mutation | G | A | p.A229V |
| SW403_LARGE_INTESTINE | 79220055 | 79220123 | 79220113 | 79220113 | Missense_Mutation | C | A | p.C214F |
| SNUC4_LARGE_INTESTINE | 79221754 | 79221835 | 79221762 | 79221762 | Missense_Mutation | G | T | p.Q208K |
| JHUEM7_ENDOMETRIUM | 79221754 | 79221835 | 79221801 | 79221801 | Missense_Mutation | A | G | p.Y195H |
| NCIH2373_PLEURA | 79224714 | 79224800 | 79224719 | 79224719 | Missense_Mutation | A | G | p.S163P |
| HEC1_ENDOMETRIUM | 79224714 | 79224800 | 79224757 | 79224757 | Missense_Mutation | A | G | p.L150P |
| JHUEM1_ENDOMETRIUM | 79229660 | 79229838 | 79229714 | 79229714 | Missense_Mutation | C | A | p.A59S |
| JHUEM1_ENDOMETRIUM | 79229660 | 79229765 | 79229714 | 79229714 | Missense_Mutation | C | A | p.A59S |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 79229660 | 79229838 | 79229738 | 79229738 | Missense_Mutation | A | G | p.Y51H |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 79229660 | 79229765 | 79229738 | 79229738 | Missense_Mutation | A | G | p.Y51H |
| SNU81_LARGE_INTESTINE | 79220055 | 79220123 | 79220055 | 79220055 | Splice_Site | G | A | p.I233I |
| CHL1_SKIN | 79221754 | 79221835 | 79221834 | 79221834 | Splice_Site | C | T | p.G184S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CTSH |
| 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_130109 | 15 | 79229659:79229765:79231481:79231513:79237119:79237436 | 79231481:79231513 | ENST00000529861.1 | BLCA | rs11638844 | chr15:79231518 | A/G | 1.57e-08 |
| exon_skip_130109 | 15 | 79229659:79229765:79231481:79231513:79237119:79237436 | 79231481:79231513 | ENST00000529861.1 | BLCA | rs11638844 | chr15:79231518 | A/G | 1.53e-03 |
| exon_skip_130109 | 15 | 79229659:79229765:79231481:79231513:79237119:79237436 | 79231481:79231513 | ENST00000529861.1 | HNSC | rs11638844 | chr15:79231518 | A/G | 4.87e-05 |
| exon_skip_130109 | 15 | 79229659:79229765:79231481:79231513:79237119:79237436 | 79231481:79231513 | ENST00000529861.1 | KIRP | rs11638844 | chr15:79231518 | A/G | 1.05e-11 |
| exon_skip_130109 | 15 | 79229659:79229765:79231481:79231513:79237119:79237436 | 79231481:79231513 | ENST00000529861.1 | LUSC | rs11638844 | chr15:79231518 | A/G | 5.43e-13 |
| exon_skip_130109 | 15 | 79229659:79229765:79231481:79231513:79237119:79237436 | 79231481:79231513 | ENST00000529861.1 | PAAD | rs11638844 | chr15:79231518 | A/G | 4.53e-04 |
| exon_skip_130109 | 15 | 79229659:79229765:79231481:79231513:79237119:79237436 | 79231481:79231513 | ENST00000529861.1 | PRAD | rs11638844 | chr15:79231518 | A/G | 1.11e-19 |
| exon_skip_130109 | 15 | 79229659:79229765:79231481:79231513:79237119:79237436 | 79231481:79231513 | ENST00000529861.1 | PRAD | rs11638844 | chr15:79231518 | A/G | 1.27e-06 |
| exon_skip_130109 | 15 | 79229659:79229765:79231481:79231513:79237119:79237436 | 79231481:79231513 | ENST00000529861.1 | UVM | rs11638844 | chr15:79231518 | A/G | 2.94e-04 |
| exon_skip_130110 | 15 | 79229659:79229765:79231481:79231513:79237232:79237340 | 79231481:79231513 | ENST00000530010.1,ENST00000534038.1 | BLCA | rs11638844 | chr15:79231518 | A/G | 1.57e-08 |
| exon_skip_130110 | 15 | 79229659:79229765:79231481:79231513:79237232:79237340 | 79231481:79231513 | ENST00000530010.1,ENST00000534038.1 | BLCA | rs11638844 | chr15:79231518 | A/G | 1.53e-03 |
| exon_skip_130110 | 15 | 79229659:79229765:79231481:79231513:79237232:79237340 | 79231481:79231513 | ENST00000530010.1,ENST00000534038.1 | HNSC | rs11638844 | chr15:79231518 | A/G | 4.87e-05 |
| exon_skip_130110 | 15 | 79229659:79229765:79231481:79231513:79237232:79237340 | 79231481:79231513 | ENST00000530010.1,ENST00000534038.1 | KIRP | rs11638844 | chr15:79231518 | A/G | 1.05e-11 |
| exon_skip_130110 | 15 | 79229659:79229765:79231481:79231513:79237232:79237340 | 79231481:79231513 | ENST00000530010.1,ENST00000534038.1 | LUSC | rs11638844 | chr15:79231518 | A/G | 5.43e-13 |
| exon_skip_130110 | 15 | 79229659:79229765:79231481:79231513:79237232:79237340 | 79231481:79231513 | ENST00000530010.1,ENST00000534038.1 | PAAD | rs11638844 | chr15:79231518 | A/G | 4.53e-04 |
| exon_skip_130110 | 15 | 79229659:79229765:79231481:79231513:79237232:79237340 | 79231481:79231513 | ENST00000530010.1,ENST00000534038.1 | PRAD | rs11638844 | chr15:79231518 | A/G | 1.11e-19 |
| exon_skip_130110 | 15 | 79229659:79229765:79231481:79231513:79237232:79237340 | 79231481:79231513 | ENST00000530010.1,ENST00000534038.1 | PRAD | rs11638844 | chr15:79231518 | A/G | 1.27e-06 |
| exon_skip_130110 | 15 | 79229659:79229765:79231481:79231513:79237232:79237340 | 79231481:79231513 | ENST00000530010.1,ENST00000534038.1 | UVM | rs11638844 | chr15:79231518 | A/G | 2.94e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CTSH |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CTSH |
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RelatedDrugs for CTSH |
| 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 CTSH |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CTSH | C0011854 | Diabetes Mellitus, Insulin-Dependent | 1 | CTD_human |
| CTSH | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
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