|
||||||
|
 | |
| |
| |
| |
| 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 CTSE |
 Gene summary |
| Gene information | Gene symbol | CTSE | Gene ID | 1510 |
| Gene name | cathepsin E | |
| Synonyms | CATE | |
| Cytomap | 1q32.1 | |
| Type of gene | protein-coding | |
| Description | cathepsin Eerythrocyte membrane aspartic proteinaseslow-moving proteinase | |
| Modification date | 20180523 | |
| UniProtAcc | P14091 | |
| Context | PubMed: CTSE [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 |
| CTSE | GO:0019886 | antigen processing and presentation of exogenous peptide antigen via MHC class II | 8765029 |
Top |
Exon skipping events across known transcript of Ensembl for CTSE 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 CTSE |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for CTSE |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_17158 | 1 | 206317605:206317644:206318310:206318467:206319100:206319218 | 206318310:206318467 | ENSG00000196188.6 | ENST00000361052.3,ENST00000360218.2 |
| exon_skip_17167 | 1 | 206319100:206319218:206320200:206320319:206325237:206325437 | 206320200:206320319 | ENSG00000196188.6 | ENST00000360218.2,ENST00000432969.2,ENST00000358184.2 |
| exon_skip_17177 | 1 | 206325237:206325437:206327473:206327596:206328718:206328860 | 206327473:206327596 | ENSG00000196188.6 | ENST00000361052.3,ENST00000358184.2 |
| exon_skip_17180 | 1 | 206325237:206325437:206327473:206327596:206328961:206329037 | 206327473:206327596 | ENSG00000196188.6 | ENST00000360218.2,ENST00000432969.2 |
| exon_skip_17189 | 1 | 206327473:206327596:206328718:206328860:206328961:206329037 | 206328718:206328860 | ENSG00000196188.6 | ENST00000361052.3,ENST00000358184.2 |
| exon_skip_17192 | 1 | 206327473:206327596:206328961:206329060:206331020:206331560 | 206328961:206329060 | ENSG00000196188.6 | ENST00000360218.2,ENST00000432969.2 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for CTSE |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_17158 | 1 | 206317605:206317644:206318310:206318467:206319100:206319218 | 206318310:206318467 | ENSG00000196188.6 | ENST00000361052.3,ENST00000360218.2 |
| exon_skip_17167 | 1 | 206319100:206319218:206320200:206320319:206325237:206325437 | 206320200:206320319 | ENSG00000196188.6 | ENST00000358184.2,ENST00000360218.2,ENST00000432969.2 |
| exon_skip_17177 | 1 | 206325237:206325437:206327473:206327596:206328718:206328860 | 206327473:206327596 | ENSG00000196188.6 | ENST00000358184.2,ENST00000361052.3 |
| exon_skip_17180 | 1 | 206325237:206325437:206327473:206327596:206328961:206329037 | 206327473:206327596 | ENSG00000196188.6 | ENST00000360218.2,ENST00000432969.2 |
| exon_skip_17189 | 1 | 206327473:206327596:206328718:206328860:206328961:206329037 | 206328718:206328860 | ENSG00000196188.6 | ENST00000358184.2,ENST00000361052.3 |
| exon_skip_17192 | 1 | 206327473:206327596:206328961:206329060:206331020:206331560 | 206328961:206329060 | ENSG00000196188.6 | ENST00000360218.2,ENST00000432969.2 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for CTSE |
| 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 |
| ENST00000358184 | 206320200 | 206320319 | Frame-shift |
| ENST00000358184 | 206328718 | 206328860 | Frame-shift |
| ENST00000358184 | 206327473 | 206327596 | 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 |
| ENST00000358184 | 206320200 | 206320319 | Frame-shift |
| ENST00000358184 | 206328718 | 206328860 | Frame-shift |
| ENST00000358184 | 206327473 | 206327596 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for CTSE |
| 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 |
| ENST00000358184 | 2245 | 396 | 206327473 | 206327596 | 781 | 903 | 221 | 261 |
| 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 |
| ENST00000358184 | 2245 | 396 | 206327473 | 206327596 | 781 | 903 | 221 | 261 |
| 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 |
| P14091 | 221 | 261 | 230 | 233 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TZS |
| P14091 | 221 | 261 | 246 | 249 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TZS |
| P14091 | 221 | 261 | 257 | 265 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TZS |
| P14091 | 221 | 261 | 54 | 396 | Chain | ID=PRO_0000025975;Note=Cathepsin E form I |
| P14091 | 221 | 261 | 57 | 396 | Chain | ID=PRO_0000354668;Note=Cathepsin E form II |
| P14091 | 221 | 261 | 78 | 396 | Domain | Note=Peptidase A1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01103 |
| P14091 | 221 | 261 | 238 | 240 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TZS |
| P14091 | 221 | 261 | 253 | 256 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TZS |
| 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 |
| P14091 | 221 | 261 | 230 | 233 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TZS |
| P14091 | 221 | 261 | 246 | 249 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TZS |
| P14091 | 221 | 261 | 257 | 265 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TZS |
| P14091 | 221 | 261 | 54 | 396 | Chain | ID=PRO_0000025975;Note=Cathepsin E form I |
| P14091 | 221 | 261 | 57 | 396 | Chain | ID=PRO_0000354668;Note=Cathepsin E form II |
| P14091 | 221 | 261 | 78 | 396 | Domain | Note=Peptidase A1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01103 |
| P14091 | 221 | 261 | 238 | 240 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TZS |
| P14091 | 221 | 261 | 253 | 256 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TZS |
Top |
SNVs in the skipped exons for CTSE |
| - 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-A1EG-01 | exon_skip_17158 | 206318311 | 206318467 | 206318385 | 206318385 | Frame_Shift_Del | C | - | p.S48fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_17158 | 206318311 | 206318467 | 206318456 | 206318456 | Frame_Shift_Del | A | - | p.N72fs |
| KIRC | TCGA-B8-5164-01 | exon_skip_17167 | 206320201 | 206320319 | 206320203 | 206320203 | Frame_Shift_Del | A | - | p.K115fs |
| KIRC | TCGA-B8-5164-01 | exon_skip_17167 | 206320201 | 206320319 | 206320203 | 206320203 | Frame_Shift_Del | A | - | p.T116fs |
| STAD | TCGA-CD-8536-01 | exon_skip_17189 | 206328719 | 206328860 | 206328844 | 206328844 | Frame_Shift_Del | C | - | p.A304fs |
| COAD | TCGA-F4-6570-01 | exon_skip_17192 | 206328962 | 206329060 | 206329053 | 206329053 | Frame_Shift_Del | C | - | p.T340fs |
| UCS | TCGA-N5-A59E-01 | exon_skip_17158 | 206318311 | 206318467 | 206318413 | 206318414 | Frame_Shift_Ins | - | GA | p.T57fs |
| UCS | TCGA-N5-A59E-01 | exon_skip_17158 | 206318311 | 206318467 | 206318413 | 206318414 | Frame_Shift_Ins | - | GA | p.V58fs |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_17167 | 206320201 | 206320319 | 206320269 | 206320269 | Nonsense_Mutation | C | T | p.Q138* |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_17167 | 206320201 | 206320319 | 206320269 | 206320269 | Nonsense_Mutation | C | T | p.Q138X |
| LUAD | TCGA-NJ-A4YQ-01 | exon_skip_17189 | 206328719 | 206328860 | 206328753 | 206328753 | Nonsense_Mutation | G | T | p.E279* |
| - 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 |
| HEC108_ENDOMETRIUM | 206318311 | 206318467 | 206318331 | 206318331 | Missense_Mutation | C | A | p.P30Q |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 206318311 | 206318467 | 206318411 | 206318411 | Missense_Mutation | A | G | p.T57A |
| LS411N_LARGE_INTESTINE | 206320201 | 206320319 | 206320234 | 206320234 | Missense_Mutation | G | A | p.S126N |
| MEWO_SKIN | 206320201 | 206320319 | 206320302 | 206320302 | Missense_Mutation | G | A | p.G149R |
| SUDHL8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 206328719 | 206328860 | 206328850 | 206328850 | Missense_Mutation | T | G | p.V306G |
| SNU175_LARGE_INTESTINE | 206328962 | 206329060 | 206328970 | 206328970 | Missense_Mutation | G | T | p.W265L |
| EN_ENDOMETRIUM | 206328962 | 206329060 | 206328999 | 206328999 | Missense_Mutation | A | G | p.D322G |
| HUH28_BILIARY_TRACT | 206328962 | 206329060 | 206329009 | 206329009 | Missense_Mutation | C | T | p.S278L |
| SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 206328962 | 206329060 | 206329026 | 206329026 | Missense_Mutation | C | T | p.P331L |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CTSE |
| 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 CTSE |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CTSE |
Top |
RelatedDrugs for CTSE |
| 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 CTSE |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CTSE | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| CTSE | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|