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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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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 | 20200322 | |
| UniProtAcc | ||
| Context |
| 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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Gene structures and expression levels for CASP9 |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000132906
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for CASP9 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_145740 | chr1 | 15493892:15494001:15495273:15495452:15504611:15504758 | 15495273:15495452 |
| exon_skip_149453 | chr1 | 15492943:15493035:15493892:15494001:15495273:15495452 | 15493892:15494001 |
| exon_skip_219231 | chr1 | 15504625:15504758:15505990:15506079:15506899:15507052 | 15505990:15506079 |
| exon_skip_239518 | chr1 | 15506899:15507075:15507873:15507907:15518250:15518395 | 15507873:15507907 |
| exon_skip_31187 | chr1 | 15504625:15504758:15505990:15506079:15506899:15507075 | 15505990:15506079 |
| exon_skip_61872 | chr1 | 15506899:15507075:15507873:15507907:15518110:15518395 | 15507873:15507907 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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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 ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000333868 | 15495273 | 15495452 | In-frame |
| ENST00000333868 | 15505990 | 15506079 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000333868 | 15493892 | 15494001 | Frame-shift |
| ENST00000333868 | 15507873 | 15507907 | Frame-shift |
| ENST00000333868 | 15495273 | 15495452 | In-frame |
| ENST00000333868 | 15505990 | 15506079 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CASP9 |
p-ENSG00000132906_img4.png |
| Loci of skipped exons in ROSMAP 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 | 15505990 | 15506079 | 726 | 814 | 210 | 239 |
| ENST00000333868 | 2036 | 416 | 15495273 | 15495452 | 964 | 1142 | 289 | 349 |
| Loci of skipped exons in MSBB 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 |
| Loci of skipped exons in Mayo 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 | 15505990 | 15506079 | 726 | 814 | 210 | 239 |
| ENST00000333868 | 2036 | 416 | 15495273 | 15495452 | 964 | 1142 | 289 | 349 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 |
| P55211 | 210 | 239 | 237 | 237 | Active site | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P55211 | 210 | 239 | 140 | 289 | Alternative sequence | ID=VSP_000818;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10070954,ECO:0000303|PubMed:9890966,ECO:0000303|Ref.5,ECO:0000303|Ref.6;Dbxref=PMID:10070954,PMID:9890966 |
| P55211 | 210 | 239 | 155 | 416 | Alternative sequence | ID=VSP_043911;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:16780893;Dbxref=PMID:16780893 |
| P55211 | 210 | 239 | 228 | 239 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NW9 |
| P55211 | 210 | 239 | 209 | 221 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NW9 |
| P55211 | 210 | 239 | 224 | 226 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AR9 |
| P55211 | 210 | 239 | 221 | 221 | Natural variant | ID=VAR_015421;Note=Q->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8663294,ECO:0000269|Ref.9;Dbxref=dbSNP:rs1052576,PMID:8663294 |
| P55211 | 289 | 349 | 140 | 289 | Alternative sequence | ID=VSP_000818;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10070954,ECO:0000303|PubMed:9890966,ECO:0000303|Ref.5,ECO:0000303|Ref.6;Dbxref=PMID:10070954,PMID:9890966 |
| P55211 | 289 | 349 | 155 | 416 | Alternative sequence | ID=VSP_043911;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:16780893;Dbxref=PMID:16780893 |
| P55211 | 289 | 349 | 317 | 319 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D9T |
| P55211 | 289 | 349 | 340 | 346 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NW9 |
| P55211 | 289 | 349 | 331 | 416 | Chain | ID=PRO_0000004643;Note=Caspase-9 subunit p10 |
| P55211 | 289 | 349 | 302 | 302 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
| P55211 | 289 | 349 | 307 | 307 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231 |
| P55211 | 289 | 349 | 310 | 310 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| P55211 | 289 | 349 | 316 | 330 | Propeptide | ID=PRO_0000004642 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 Mayo. |
| 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 |
| P55211 | 210 | 239 | 237 | 237 | Active site | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P55211 | 210 | 239 | 140 | 289 | Alternative sequence | ID=VSP_000818;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10070954,ECO:0000303|PubMed:9890966,ECO:0000303|Ref.5,ECO:0000303|Ref.6;Dbxref=PMID:10070954,PMID:9890966 |
| P55211 | 210 | 239 | 155 | 416 | Alternative sequence | ID=VSP_043911;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:16780893;Dbxref=PMID:16780893 |
| P55211 | 210 | 239 | 228 | 239 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NW9 |
| P55211 | 210 | 239 | 209 | 221 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NW9 |
| P55211 | 210 | 239 | 224 | 226 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AR9 |
| P55211 | 210 | 239 | 221 | 221 | Natural variant | ID=VAR_015421;Note=Q->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8663294,ECO:0000269|Ref.9;Dbxref=dbSNP:rs1052576,PMID:8663294 |
| P55211 | 289 | 349 | 140 | 289 | Alternative sequence | ID=VSP_000818;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10070954,ECO:0000303|PubMed:9890966,ECO:0000303|Ref.5,ECO:0000303|Ref.6;Dbxref=PMID:10070954,PMID:9890966 |
| P55211 | 289 | 349 | 155 | 416 | Alternative sequence | ID=VSP_043911;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:16780893;Dbxref=PMID:16780893 |
| P55211 | 289 | 349 | 317 | 319 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D9T |
| P55211 | 289 | 349 | 340 | 346 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NW9 |
| P55211 | 289 | 349 | 331 | 416 | Chain | ID=PRO_0000004643;Note=Caspase-9 subunit p10 |
| P55211 | 289 | 349 | 302 | 302 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
| P55211 | 289 | 349 | 307 | 307 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231 |
| P55211 | 289 | 349 | 310 | 310 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| P55211 | 289 | 349 | 316 | 330 | Propeptide | ID=PRO_0000004642 |
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3'-UTR located exon skipping events that lost miRNA binding sites in CASP9 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for CASP9 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for CASP9 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CASP9 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for CASP9 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for CASP9 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| 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 |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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