|
||||||
|
 | |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| 3'-UTR located exon skipping events lost miRNA binding sites |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| |
| |
|
Gene summary for CASP8 |
 Gene summary |
| Gene information | Gene symbol | CASP8 | Gene ID | 841 |
| Gene name | caspase 8 | |
| Synonyms | ALPS2B|CAP4|Casp-8|FLICE|MACH|MCH5 | |
| Cytomap | 2q33.1 | |
| Type of gene | protein-coding | |
| Description | caspase-8FADD-homologous ICE/CED-3-like proteaseFADD-like ICEICE-like apoptotic protease 5MACH-alpha-1/2/3 proteinMACH-beta-1/2/3/4 proteinMORT1-associated ced-3 homologapoptotic cysteine proteaseapoptotic protease Mch-5caspase 8, apoptosis-relat | |
| 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 |
| CASP8 | GO:0006508 | proteolysis | 12888622 |
| CASP8 | GO:0036462 | TRAIL-activated apoptotic signaling pathway | 21785459 |
| CASP8 | GO:0045862 | positive regulation of proteolysis | 18387192 |
| CASP8 | GO:0097191 | extrinsic apoptotic signaling pathway | 21785459 |
| CASP8 | GO:0097202 | activation of cysteine-type endopeptidase activity | 18387192 |
Top |
Gene structures and expression levels for CASP8 |
| 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. |
 |
ENSG00000064012
| 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. |
 |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for CASP8 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
 |
| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_105279 | chr2 | 201272898:201272942:201274889:201274953:201276827:201276968 | 201274889:201274953 |
| exon_skip_155047 | chr2 | 201272638:201272776:201272898:201272942:201276827:201276968 | 201272898:201272942 |
| exon_skip_15892 | chr2 | 201272638:201272776:201274889:201274953:201276827:201276904 | 201274889:201274953 |
| exon_skip_257841 | chr2 | 201272638:201272776:201272898:201272942:201274889:201274953 | 201272898:201272942 |
| exon_skip_287012 | chr2 | 201258324:201258382:201266487:201266791:201271516:201271559 | 201266487:201266791 |
| exon_skip_33047 | chr2 | 201272638:201272776:201274889:201274953:201276827:201276843 | 201274889:201274953 |
| exon_skip_49431 | chr2 | 201258324:201258382:201266461:201266791:201271516:201271559 | 201266461:201266791 |
| exon_skip_54820 | chr2 | 201272638:201272776:201272898:201272942:201276827:201276843 | 201272898:201272942 |
| exon_skip_72184 | chr2 | 201258119:201258154:201266461:201266791:201271516:201271621 | 201266461:201266791 |
| exon_skip_78653 | chr2 | 201272898:201272942:201274889:201274953:201276827:201276843 | 201274889:201274953 |
| 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 |
Top |
Open reading frame (ORF) annotation in the exon skipping event for CASP8 |
| 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 |
| ENST00000432109 | 201274889 | 201274953 | Frame-shift |
| ENST00000432109 | 201272898 | 201272942 | 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 |
| ENST00000432109 | 201272898 | 201272942 | In-frame |
| 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 |
| ENST00000432109 | 201274889 | 201274953 | Frame-shift |
| ENST00000432109 | 201272898 | 201272942 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for CASP8 |
p-ENSG00000064012_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 |
| ENST00000432109 | 1646 | 479 | 201272898 | 201272942 | 741 | 784 | 184 | 198 |
| 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 |
| ENST00000432109 | 1646 | 479 | 201272898 | 201272942 | 741 | 784 | 184 | 198 |
| 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 |
| ENST00000432109 | 1646 | 479 | 201272898 | 201272942 | 741 | 784 | 184 | 198 |
| 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 |
| Q14790 | 184 | 198 | 184 | 267 | Alternative sequence | ID=VSP_000813;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8681376;Dbxref=PMID:8681376 |
| Q14790 | 184 | 198 | 184 | 220 | Alternative sequence | ID=VSP_000811;Note=In isoform 6. ERSSSLEGSPDEFSNGEELCGVMTISDSPREQDSESQ->DFGQSLPNEKQTSGILSDHQQSQFCKSTGESAQTSQH;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8681376;Dbxref=PMID:8681376 |
| Q14790 | 184 | 198 | 184 | 198 | Alternative sequence | ID=VSP_000810;Note=In isoform 2%2C isoform 4 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11917123,ECO:0000303|PubMed:8681376,ECO:0000303|PubMed:8755496,ECO:0000303|PubMed:9228018;Dbxref= |
| Q14790 | 184 | 198 | 188 | 188 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O89110 |
| Q14790 | 184 | 198 | 1 | 216 | Propeptide | ID=PRO_0000004628 |
| 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 |
| Q14790 | 184 | 198 | 184 | 267 | Alternative sequence | ID=VSP_000813;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8681376;Dbxref=PMID:8681376 |
| Q14790 | 184 | 198 | 184 | 220 | Alternative sequence | ID=VSP_000811;Note=In isoform 6. ERSSSLEGSPDEFSNGEELCGVMTISDSPREQDSESQ->DFGQSLPNEKQTSGILSDHQQSQFCKSTGESAQTSQH;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8681376;Dbxref=PMID:8681376 |
| Q14790 | 184 | 198 | 184 | 198 | Alternative sequence | ID=VSP_000810;Note=In isoform 2%2C isoform 4 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11917123,ECO:0000303|PubMed:8681376,ECO:0000303|PubMed:8755496,ECO:0000303|PubMed:9228018;Dbxref= |
| Q14790 | 184 | 198 | 188 | 188 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O89110 |
| Q14790 | 184 | 198 | 1 | 216 | Propeptide | ID=PRO_0000004628 |
| 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 |
| Q14790 | 184 | 198 | 184 | 267 | Alternative sequence | ID=VSP_000813;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8681376;Dbxref=PMID:8681376 |
| Q14790 | 184 | 198 | 184 | 220 | Alternative sequence | ID=VSP_000811;Note=In isoform 6. ERSSSLEGSPDEFSNGEELCGVMTISDSPREQDSESQ->DFGQSLPNEKQTSGILSDHQQSQFCKSTGESAQTSQH;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8681376;Dbxref=PMID:8681376 |
| Q14790 | 184 | 198 | 184 | 198 | Alternative sequence | ID=VSP_000810;Note=In isoform 2%2C isoform 4 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11917123,ECO:0000303|PubMed:8681376,ECO:0000303|PubMed:8755496,ECO:0000303|PubMed:9228018;Dbxref= |
| Q14790 | 184 | 198 | 188 | 188 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O89110 |
| Q14790 | 184 | 198 | 1 | 216 | Propeptide | ID=PRO_0000004628 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in CASP8 |
| 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 |
Top |
SNVs in the skipped exons for CASP8 |
| - 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 |
Top |
AD stage-associated exon skippint events for CASP8 |
| 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 |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CASP8 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
Top |
Correlation with RNA binding proteins (RBPs) for CASP8 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
Top |
RelatedDrugs for CASP8 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for CASP8 |
| 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)
|