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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 CASP9 |
 Gene summary |
| Gene information | Gene symbol | CASP9 | Gene ID | 842 |
| Gene name | caspase 9 | |
| Synonyms | APAF-3|APAF3|ICE-LAP6|MCH6|PPP1R56 | |
| Cytomap | 1p36.21 | |
| Type of gene | protein-coding | |
| Description | caspase-9ICE-like apoptotic protease 6apoptotic protease MCH-6apoptotic protease activating factor 3caspase 9, apoptosis-related cysteine peptidaseprotein phosphatase 1, regulatory subunit 56 | |
| Modification date | 20180523 | |
| UniProtAcc | P55211 | |
| Context | PubMed: CASP9 [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 |
| CASP9 | GO:0006974 | cellular response to DNA damage stimulus | 15657060 |
| CASP9 | GO:0034644 | cellular response to UV | 15657060 |
| CASP9 | GO:0042770 | signal transduction in response to DNA damage | 15657060 |
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Exon skipping events across known transcript of Ensembl for CASP9 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 CASP9 |
| 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 CASP9 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_21948 | 1 | 15819437:15819530:15820386:15820496:15821767:15821947 | 15820386:15820496 | ENSG00000132906.13 | ENST00000474305.2,ENST00000400777.3,ENST00000348549.5,ENST00000375890.4,ENST00000333868.5 |
| exon_skip_21951 | 1 | 15820386:15820496:15821767:15821947:15831105:15831253 | 15821767:15821947 | ENSG00000132906.13 | ENST00000474305.2,ENST00000400777.3,ENST00000546424.1,ENST00000375890.4,ENST00000333868.5 |
| exon_skip_21960 | 1 | 15831119:15831253:15832484:15832574:15833393:15833547 | 15832484:15832574 | ENSG00000132906.13 | ENST00000474305.2,ENST00000400777.3,ENST00000546424.1,ENST00000447522.1,ENST00000375890.4,ENST00000424908.1,ENST00000333868.5 |
| exon_skip_21964 | 1 | 15833393:15833570:15834367:15834402:15844604:15844890 | 15834367:15834402 | ENSG00000132906.13 | ENST00000546424.1,ENST00000447522.1,ENST00000375890.4,ENST00000440484.1,ENST00000333868.5 |
| exon_skip_21966 | 1 | 15833393:15833628:15834367:15834402:15844604:15844890 | 15834367:15834402 | ENSG00000132906.13 | ENST00000400777.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CASP9 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_21948 | 1 | 15819437:15819530:15820386:15820496:15821767:15821947 | 15820386:15820496 | ENSG00000132906.13 | ENST00000333868.5,ENST00000348549.5,ENST00000400777.3,ENST00000375890.4,ENST00000474305.2 |
| exon_skip_21951 | 1 | 15820386:15820496:15821767:15821947:15831105:15831253 | 15821767:15821947 | ENSG00000132906.13 | ENST00000546424.1,ENST00000333868.5,ENST00000400777.3,ENST00000375890.4,ENST00000474305.2 |
| exon_skip_21960 | 1 | 15831119:15831253:15832484:15832574:15833393:15833547 | 15832484:15832574 | ENSG00000132906.13 | ENST00000546424.1,ENST00000333868.5,ENST00000400777.3,ENST00000424908.1,ENST00000375890.4,ENST00000474305.2,ENST00000447522.1 |
| exon_skip_21964 | 1 | 15833393:15833570:15834367:15834402:15844604:15844890 | 15834367:15834402 | ENSG00000132906.13 | ENST00000546424.1,ENST00000333868.5,ENST00000375890.4,ENST00000447522.1,ENST00000440484.1 |
| exon_skip_21965 | 1 | 15833393:15833570:15834367:15834402:15844744:15844890 | 15834367:15834402 | ENSG00000132906.13 | ENST00000474305.2 |
| exon_skip_21966 | 1 | 15833393:15833628:15834367:15834402:15844604:15844890 | 15834367:15834402 | ENSG00000132906.13 | ENST00000400777.3 |
| exon_skip_21967 | 1 | 15844744:15844890:15846375:15846496:15852685:15853029 | 15846375:15846496 | ENSG00000132906.13 | ENST00000469637.1 |
| 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 CASP9 |
| 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 |
| ENST00000333868 | 15820386 | 15820496 | Frame-shift |
| ENST00000333868 | 15834367 | 15834402 | Frame-shift |
| ENST00000333868 | 15821767 | 15821947 | In-frame |
| ENST00000333868 | 15832484 | 15832574 | 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 |
| ENST00000333868 | 15820386 | 15820496 | Frame-shift |
| ENST00000333868 | 15834367 | 15834402 | Frame-shift |
| ENST00000333868 | 15821767 | 15821947 | In-frame |
| ENST00000333868 | 15832484 | 15832574 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CASP9 |
| 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 |
| ENST00000333868 | 2036 | 416 | 15832484 | 15832574 | 726 | 815 | 210 | 240 |
| ENST00000333868 | 2036 | 416 | 15821767 | 15821947 | 964 | 1143 | 289 | 349 |
| 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 |
| ENST00000333868 | 2036 | 416 | 15832484 | 15832574 | 726 | 815 | 210 | 240 |
| ENST00000333868 | 2036 | 416 | 15821767 | 15821947 | 964 | 1143 | 289 | 349 |
| 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 |
| 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 |
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SNVs in the skipped exons for CASP9 |
| - 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-A3A0-01 | exon_skip_21951 | 15821768 | 15821947 | 15821790 | 15821790 | Frame_Shift_Del | A | - | p.F342fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_21960 | 15832485 | 15832574 | 15832571 | 15832571 | Frame_Shift_Del | T | - | p.M212fs |
| BLCA | TCGA-G2-A2EF-01 | exon_skip_21951 | 15821768 | 15821947 | 15821948 | 15821948 | Splice_Site | C | G | p.E290_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 |
| HS766T_PANCREAS | 15834368 | 15834402 | 15834394 | 15834394 | Frame_Shift_Del | C | - | p.E143fs |
| GMEL_SKIN | 15820387 | 15820496 | 15820419 | 15820419 | Missense_Mutation | G | A | p.H376Y |
| SW756_CERVIX | 15820387 | 15820496 | 15820477 | 15820477 | Missense_Mutation | G | C | p.D356E |
| HEC251_ENDOMETRIUM | 15821768 | 15821947 | 15821792 | 15821792 | Missense_Mutation | A | C | p.F342V |
| WM793_SKIN | 15821768 | 15821947 | 15821828 | 15821828 | Missense_Mutation | C | T | p.D330N |
| NCIH650_LUNG | 15821768 | 15821947 | 15821887 | 15821887 | Missense_Mutation | C | A | p.S310I |
| HCC1937_BREAST | 15821768 | 15821947 | 15821900 | 15821900 | Missense_Mutation | C | T | p.E306K |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 15832485 | 15832574 | 15832493 | 15832493 | Missense_Mutation | C | T | p.G238S |
| AN3CA_ENDOMETRIUM | 15834368 | 15834402 | 15834381 | 15834381 | Missense_Mutation | C | T | p.G147E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CASP9 |
| 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_21960 | 1 | 15831119:15831253:15832484:15832574:15833393:15833547 | 15832484:15832574 | ENST00000474305.2,ENST00000400777.3,ENST00000546424.1,ENST00000447522.1,ENST00000375890.4,ENST00000424908.1,ENST00000333868.5 | ESCA | rs1052576 | chr1:15832543 | T/C | 5.57e-05 |
| exon_skip_21960 | 1 | 15831119:15831253:15832484:15832574:15833393:15833547 | 15832484:15832574 | ENST00000474305.2,ENST00000400777.3,ENST00000546424.1,ENST00000447522.1,ENST00000375890.4,ENST00000424908.1,ENST00000333868.5 | ESCA | rs1052576 | chr1:15832543 | T/C | 5.57e-05 |
| exon_skip_21960 | 1 | 15831119:15831253:15832484:15832574:15833393:15833547 | 15832484:15832574 | ENST00000474305.2,ENST00000400777.3,ENST00000546424.1,ENST00000447522.1,ENST00000375890.4,ENST00000424908.1,ENST00000333868.5 | HNSC | rs1052576 | chr1:15832543 | T/C | 1.17e-03 |
| exon_skip_21960 | 1 | 15831119:15831253:15832484:15832574:15833393:15833547 | 15832484:15832574 | ENST00000474305.2,ENST00000400777.3,ENST00000546424.1,ENST00000447522.1,ENST00000375890.4,ENST00000424908.1,ENST00000333868.5 | KIRP | rs1052576 | chr1:15832543 | T/C | 9.64e-05 |
| exon_skip_21960 | 1 | 15831119:15831253:15832484:15832574:15833393:15833547 | 15832484:15832574 | ENST00000474305.2,ENST00000400777.3,ENST00000546424.1,ENST00000447522.1,ENST00000375890.4,ENST00000424908.1,ENST00000333868.5 | LUAD | rs1052576 | chr1:15832543 | T/C | 1.65e-03 |
| exon_skip_21960 | 1 | 15831119:15831253:15832484:15832574:15833393:15833547 | 15832484:15832574 | ENST00000474305.2,ENST00000400777.3,ENST00000546424.1,ENST00000447522.1,ENST00000375890.4,ENST00000424908.1,ENST00000333868.5 | LUSC | rs1052576 | chr1:15832543 | T/C | 1.54e-03 |
| exon_skip_21960 | 1 | 15831119:15831253:15832484:15832574:15833393:15833547 | 15832484:15832574 | ENST00000474305.2,ENST00000400777.3,ENST00000546424.1,ENST00000447522.1,ENST00000375890.4,ENST00000424908.1,ENST00000333868.5 | STAD | rs1052576 | chr1:15832543 | T/C | 1.39e-04 |
| exon_skip_21960 | 1 | 15831119:15831253:15832484:15832574:15833393:15833547 | 15832484:15832574 | ENST00000474305.2,ENST00000400777.3,ENST00000546424.1,ENST00000447522.1,ENST00000375890.4,ENST00000424908.1,ENST00000333868.5 | STAD | rs1052576 | chr1:15832543 | T/C | 1.87e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CASP9 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CASP9 |
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RelatedDrugs for CASP9 |
| 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 CASP9 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CASP9 | C0007786 | Brain Ischemia | 1 | CTD_human |
| CASP9 | C0007787 | Transient Ischemic Attack | 1 | CTD_human |
| CASP9 | C0013604 | Edema | 1 | CTD_human |
| CASP9 | C0027055 | Myocardial Reperfusion Injury | 1 | CTD_human |
| CASP9 | C0027765 | nervous system disorder | 1 | CTD_human |
| CASP9 | C0031117 | Peripheral Neuropathy | 1 | CTD_human |
| CASP9 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| CASP9 | C0035305 | Retinal Detachment | 1 | CTD_human |
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