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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 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 | 20180523 | |
| UniProtAcc | Q14790 | |
| Context | PubMed: CASP8 [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 |
| 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 |
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Exon skipping events across known transcript of Ensembl for CASP8 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 CASP8 |
| 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 CASP8 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_332445 | 2 | 202098738:202098835:202131183:202131514:202136238:202136282 | 202131183:202131514 | ENSG00000064012.17 | ENST00000392258.3,ENST00000392266.3,ENST00000392259.2,ENST00000264274.9,ENST00000392263.2,ENST00000471383.1 |
| exon_skip_332446 | 2 | 202098738:202098835:202131209:202131514:202136238:202136282 | 202131209:202131514 | ENSG00000064012.17 | ENST00000432109.2,ENST00000440732.1 |
| exon_skip_332449 | 2 | 202122841:202122877:202131183:202131514:202136238:202136282 | 202131183:202131514 | ENSG00000064012.17 | ENST00000413726.1 |
| exon_skip_332452 | 2 | 202123046:202123105:202131183:202131514:202136238:202136282 | 202131183:202131514 | ENSG00000064012.17 | ENST00000358485.4,ENST00000339403.6 |
| exon_skip_332453 | 2 | 202123046:202123105:202131209:202131514:202136238:202136282 | 202131209:202131514 | ENSG00000064012.17 | ENST00000437283.1 |
| exon_skip_332456 | 2 | 202125222:202125336:202131183:202131514:202136238:202136282 | 202131183:202131514 | ENSG00000064012.17 | ENST00000323492.7 |
| exon_skip_332459 | 2 | 202131183:202131514:202134232:202134328:202136238:202136344 | 202134232:202134328 | ENSG00000064012.17 | ENST00000264275.5 |
| exon_skip_332460 | 2 | 202131209:202131514:202136238:202136344:202137360:202137448 | 202136238:202136344 | ENSG00000064012.17 | ENST00000392258.3,ENST00000392266.3,ENST00000413726.1,ENST00000392259.2,ENST00000432109.2,ENST00000323492.7,ENST00000447616.1,ENST00000264274.9,ENST00000358485.4,ENST00000392263.2,ENST00000339403.6,ENST00000471383.1,ENST00000437283.1 |
| exon_skip_332462 | 2 | 202137360:202137499:202137620:202137665:202139611:202139676 | 202137620:202137665 | ENSG00000064012.17 | ENST00000432109.2,ENST00000358485.4,ENST00000339403.6 |
| exon_skip_332463 | 2 | 202137360:202137499:202137620:202137665:202141549:202141627 | 202137620:202137665 | ENSG00000064012.17 | ENST00000392258.3,ENST00000392259.2 |
| exon_skip_332467 | 2 | 202137360:202137499:202139611:202139676:202141549:202141627 | 202139611:202139676 | ENSG00000064012.17 | ENST00000450491.1,ENST00000323492.7,ENST00000264275.5,ENST00000392263.2 |
| exon_skip_332470 | 2 | 202137360:202137499:202141549:202141691:202149538:202149673 | 202141549:202141691 | ENSG00000064012.17 | ENST00000392266.3 |
| exon_skip_332475 | 2 | 202137620:202137665:202139611:202139676:202141549:202141627 | 202139611:202139676 | ENSG00000064012.17 | ENST00000432109.2,ENST00000358485.4,ENST00000339403.6 |
| exon_skip_332477 | 2 | 202137620:202137665:202141549:202141691:202149538:202150040 | 202141549:202141691 | ENSG00000064012.17 | ENST00000392259.2 |
| exon_skip_332480 | 2 | 202139611:202139676:202141549:202141691:202149538:202150040 | 202141549:202141691 | ENSG00000064012.17 | ENST00000432109.2,ENST00000323492.7,ENST00000358485.4,ENST00000264275.5,ENST00000392263.2 |
| exon_skip_332481 | 2 | 202139611:202139676:202141549:202141827:202149538:202150040 | 202141549:202141827 | ENSG00000064012.17 | ENST00000339403.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CASP8 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_332445 | 2 | 202098738:202098835:202131183:202131514:202136238:202136282 | 202131183:202131514 | ENSG00000064012.17 | ENST00000392263.2,ENST00000264274.9,ENST00000392259.2,ENST00000392266.3,ENST00000471383.1,ENST00000392258.3 |
| exon_skip_332446 | 2 | 202098738:202098835:202131209:202131514:202136238:202136282 | 202131209:202131514 | ENSG00000064012.17 | ENST00000432109.2,ENST00000440732.1 |
| exon_skip_332449 | 2 | 202122841:202122877:202131183:202131514:202136238:202136282 | 202131183:202131514 | ENSG00000064012.17 | ENST00000413726.1 |
| exon_skip_332452 | 2 | 202123046:202123105:202131183:202131514:202136238:202136282 | 202131183:202131514 | ENSG00000064012.17 | ENST00000358485.4,ENST00000339403.6 |
| exon_skip_332453 | 2 | 202123046:202123105:202131209:202131514:202136238:202136282 | 202131209:202131514 | ENSG00000064012.17 | ENST00000437283.1 |
| exon_skip_332456 | 2 | 202125222:202125336:202131183:202131514:202136238:202136282 | 202131183:202131514 | ENSG00000064012.17 | ENST00000323492.7 |
| exon_skip_332459 | 2 | 202131183:202131514:202134232:202134328:202136238:202136344 | 202134232:202134328 | ENSG00000064012.17 | ENST00000264275.5 |
| exon_skip_332460 | 2 | 202131209:202131514:202136238:202136344:202137360:202137448 | 202136238:202136344 | ENSG00000064012.17 | ENST00000392263.2,ENST00000264274.9,ENST00000392259.2,ENST00000392266.3,ENST00000432109.2,ENST00000471383.1,ENST00000392258.3,ENST00000447616.1,ENST00000358485.4,ENST00000437283.1,ENST00000413726.1,ENST00000339403.6,ENST00000323492.7 |
| exon_skip_332462 | 2 | 202137360:202137499:202137620:202137665:202139611:202139676 | 202137620:202137665 | ENSG00000064012.17 | ENST00000432109.2,ENST00000358485.4,ENST00000339403.6 |
| exon_skip_332463 | 2 | 202137360:202137499:202137620:202137665:202141549:202141627 | 202137620:202137665 | ENSG00000064012.17 | ENST00000392259.2,ENST00000392258.3 |
| exon_skip_332467 | 2 | 202137360:202137499:202139611:202139676:202141549:202141627 | 202139611:202139676 | ENSG00000064012.17 | ENST00000392263.2,ENST00000264275.5,ENST00000450491.1,ENST00000323492.7 |
| exon_skip_332470 | 2 | 202137360:202137499:202141549:202141691:202149538:202149673 | 202141549:202141691 | ENSG00000064012.17 | ENST00000392266.3 |
| exon_skip_332475 | 2 | 202137620:202137665:202139611:202139676:202141549:202141627 | 202139611:202139676 | ENSG00000064012.17 | ENST00000432109.2,ENST00000358485.4,ENST00000339403.6 |
| exon_skip_332477 | 2 | 202137620:202137665:202141549:202141691:202149538:202150040 | 202141549:202141691 | ENSG00000064012.17 | ENST00000392259.2 |
| exon_skip_332480 | 2 | 202139611:202139676:202141549:202141691:202149538:202150040 | 202141549:202141691 | ENSG00000064012.17 | ENST00000392263.2,ENST00000432109.2,ENST00000264275.5,ENST00000358485.4,ENST00000323492.7 |
| exon_skip_332481 | 2 | 202139611:202139676:202141549:202141827:202149538:202150040 | 202141549:202141827 | ENSG00000064012.17 | ENST00000339403.6 |
| 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 CASP8 |
| 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 |
| ENST00000432109 | 202131209 | 202131514 | Frame-shift |
| ENST00000432109 | 202136238 | 202136344 | Frame-shift |
| ENST00000432109 | 202139611 | 202139676 | Frame-shift |
| ENST00000432109 | 202141549 | 202141691 | Frame-shift |
| ENST00000432109 | 202137620 | 202137665 | 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 |
| ENST00000432109 | 202131209 | 202131514 | Frame-shift |
| ENST00000432109 | 202136238 | 202136344 | Frame-shift |
| ENST00000432109 | 202139611 | 202139676 | Frame-shift |
| ENST00000432109 | 202141549 | 202141691 | Frame-shift |
| ENST00000432109 | 202137620 | 202137665 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CASP8 |
| 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 |
| ENST00000432109 | 1646 | 479 | 202137620 | 202137665 | 740 | 784 | 183 | 198 |
| 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 |
| ENST00000432109 | 1646 | 479 | 202137620 | 202137665 | 740 | 784 | 183 | 198 |
| 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 CASP8 |
| - 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. |
CASP8_BRCA_exon_skip_332481_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-G3-A3CJ-01 | exon_skip_332445 exon_skip_332449 exon_skip_332452 exon_skip_332456 | 202131184 | 202131514 | 202131204 | 202131204 | Frame_Shift_Del | A | - | p.K59fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_332445 exon_skip_332449 exon_skip_332452 exon_skip_332456 | 202131184 | 202131514 | 202131240 | 202131240 | Frame_Shift_Del | G | - | p.G70fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_332446 exon_skip_332453 | 202131210 | 202131514 | 202131240 | 202131240 | Frame_Shift_Del | G | - | p.G70fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_332445 exon_skip_332449 exon_skip_332452 exon_skip_332456 | 202131184 | 202131514 | 202131271 | 202131271 | Frame_Shift_Del | C | - | p.S80fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_332446 exon_skip_332453 | 202131210 | 202131514 | 202131271 | 202131271 | Frame_Shift_Del | C | - | p.S80fs |
| HNSC | TCGA-UF-A7JO-01 | exon_skip_332445 exon_skip_332449 exon_skip_332452 exon_skip_332456 | 202131184 | 202131514 | 202131358 | 202131359 | Frame_Shift_Del | AA | - | p.E109fs |
| HNSC | TCGA-UF-A7JO-01 | exon_skip_332446 exon_skip_332453 | 202131210 | 202131514 | 202131358 | 202131359 | Frame_Shift_Del | AA | - | p.E109fs |
| HNSC | TCGA-CQ-5327-01 | exon_skip_332445 exon_skip_332449 exon_skip_332452 exon_skip_332456 | 202131184 | 202131514 | 202131502 | 202131505 | Frame_Shift_Del | TTTC | - | p.IS157fs |
| HNSC | TCGA-CQ-5327-01 | exon_skip_332446 exon_skip_332453 | 202131210 | 202131514 | 202131502 | 202131505 | Frame_Shift_Del | TTTC | - | p.IS157fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_332477 exon_skip_332470 exon_skip_332480 | 202141550 | 202141691 | 202141580 | 202141580 | Frame_Shift_Del | A | - | p.K290fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_332481 | 202141550 | 202141827 | 202141580 | 202141580 | Frame_Shift_Del | A | - | p.K290fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_332477 exon_skip_332470 exon_skip_332480 | 202141550 | 202141691 | 202141587 | 202141587 | Frame_Shift_Del | G | - | p.R292fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_332481 | 202141550 | 202141827 | 202141587 | 202141587 | Frame_Shift_Del | G | - | p.R292fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_332477 exon_skip_332470 exon_skip_332480 | 202141550 | 202141691 | 202141624 | 202141624 | Frame_Shift_Del | A | - | p.A304fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_332481 | 202141550 | 202141827 | 202141624 | 202141624 | Frame_Shift_Del | A | - | p.A304fs |
| LIHC | TCGA-DD-A4NB-01 | exon_skip_332445 exon_skip_332449 exon_skip_332452 exon_skip_332456 | 202131184 | 202131514 | 202131436 | 202131437 | Frame_Shift_Ins | - | AG | p.I135fs |
| LIHC | TCGA-DD-A4NB-01 | exon_skip_332445 exon_skip_332449 exon_skip_332452 exon_skip_332456 | 202131184 | 202131514 | 202131436 | 202131437 | Frame_Shift_Ins | - | AG | p.N135fs |
| LIHC | TCGA-DD-A4NB-01 | exon_skip_332446 exon_skip_332453 | 202131210 | 202131514 | 202131436 | 202131437 | Frame_Shift_Ins | - | AG | p.I135fs |
| LIHC | TCGA-DD-A4NB-01 | exon_skip_332446 exon_skip_332453 | 202131210 | 202131514 | 202131436 | 202131437 | Frame_Shift_Ins | - | AG | p.N135fs |
| HNSC | TCGA-CR-7395-01 | exon_skip_332445 exon_skip_332449 exon_skip_332452 exon_skip_332456 | 202131184 | 202131514 | 202131442 | 202131443 | Frame_Shift_Ins | - | C | p.S137fs |
| HNSC | TCGA-CR-7395-01 | exon_skip_332445 exon_skip_332449 exon_skip_332452 exon_skip_332456 | 202131184 | 202131514 | 202131442 | 202131443 | Frame_Shift_Ins | - | C | p.Y78fs |
| HNSC | TCGA-CR-7395-01 | exon_skip_332446 exon_skip_332453 | 202131210 | 202131514 | 202131442 | 202131443 | Frame_Shift_Ins | - | C | p.S137fs |
| HNSC | TCGA-CR-7395-01 | exon_skip_332446 exon_skip_332453 | 202131210 | 202131514 | 202131442 | 202131443 | Frame_Shift_Ins | - | C | p.Y78fs |
| READ | TCGA-EI-6507-01 | exon_skip_332467 exon_skip_332475 | 202139612 | 202139676 | 202139625 | 202139626 | Frame_Shift_Ins | - | G | p.C262fs |
| COAD | TCGA-AA-3489-01 | exon_skip_332445 exon_skip_332449 exon_skip_332452 exon_skip_332456 | 202131184 | 202131514 | 202131233 | 202131233 | Nonsense_Mutation | T | A | p.Y8X |
| COAD | TCGA-AA-3489-01 | exon_skip_332446 exon_skip_332453 | 202131210 | 202131514 | 202131233 | 202131233 | Nonsense_Mutation | T | A | p.Y8X |
| PAAD | TCGA-IB-7891-01 | exon_skip_332445 exon_skip_332449 exon_skip_332452 exon_skip_332456 | 202131184 | 202131514 | 202131315 | 202131315 | Nonsense_Mutation | G | T | p.E36* |
| PAAD | TCGA-IB-7891-01 | exon_skip_332445 exon_skip_332449 exon_skip_332452 exon_skip_332456 | 202131184 | 202131514 | 202131315 | 202131315 | Nonsense_Mutation | G | T | p.E95* |
| PAAD | TCGA-IB-7891-01 | exon_skip_332445 exon_skip_332449 exon_skip_332452 exon_skip_332456 | 202131184 | 202131514 | 202131315 | 202131315 | Nonsense_Mutation | G | T | p.E95X |
| PAAD | TCGA-IB-7891-01 | exon_skip_332446 exon_skip_332453 | 202131210 | 202131514 | 202131315 | 202131315 | Nonsense_Mutation | G | T | p.E36* |
| PAAD | TCGA-IB-7891-01 | exon_skip_332446 exon_skip_332453 | 202131210 | 202131514 | 202131315 | 202131315 | Nonsense_Mutation | G | T | p.E95* |
| PAAD | TCGA-IB-7891-01 | exon_skip_332446 exon_skip_332453 | 202131210 | 202131514 | 202131315 | 202131315 | Nonsense_Mutation | G | T | p.E95X |
| UCEC | TCGA-B5-A11E-01 | exon_skip_332445 exon_skip_332449 exon_skip_332452 exon_skip_332456 | 202131184 | 202131514 | 202131315 | 202131315 | Nonsense_Mutation | G | T | p.E95* |
| UCEC | TCGA-B5-A11E-01 | exon_skip_332446 exon_skip_332453 | 202131210 | 202131514 | 202131315 | 202131315 | Nonsense_Mutation | G | T | p.E95* |
| LUAD | TCGA-44-2665-01 | exon_skip_332445 exon_skip_332449 exon_skip_332452 exon_skip_332456 | 202131184 | 202131514 | 202131375 | 202131375 | Nonsense_Mutation | G | T | p.E115* |
| LUAD | TCGA-44-2665-01 | exon_skip_332445 exon_skip_332449 exon_skip_332452 exon_skip_332456 | 202131184 | 202131514 | 202131375 | 202131375 | Nonsense_Mutation | G | T | p.E56* |
| LUAD | TCGA-44-2665-01 | exon_skip_332446 exon_skip_332453 | 202131210 | 202131514 | 202131375 | 202131375 | Nonsense_Mutation | G | T | p.E115* |
| LUAD | TCGA-44-2665-01 | exon_skip_332446 exon_skip_332453 | 202131210 | 202131514 | 202131375 | 202131375 | Nonsense_Mutation | G | T | p.E56* |
| BRCA | TCGA-EW-A1P3-01 | exon_skip_332445 exon_skip_332449 exon_skip_332452 exon_skip_332456 | 202131184 | 202131514 | 202131411 | 202131411 | Nonsense_Mutation | C | T | p.R127* |
| BRCA | TCGA-EW-A1P3-01 | exon_skip_332446 exon_skip_332453 | 202131210 | 202131514 | 202131411 | 202131411 | Nonsense_Mutation | C | T | p.R127* |
| HNSC | TCGA-BA-6873-01 | exon_skip_332445 exon_skip_332449 exon_skip_332452 exon_skip_332456 | 202131184 | 202131514 | 202131411 | 202131411 | Nonsense_Mutation | C | T | p.R127* |
| HNSC | TCGA-BA-6873-01 | exon_skip_332445 exon_skip_332449 exon_skip_332452 exon_skip_332456 | 202131184 | 202131514 | 202131411 | 202131411 | Nonsense_Mutation | C | T | p.R68* |
| HNSC | TCGA-BA-6873-01 | exon_skip_332446 exon_skip_332453 | 202131210 | 202131514 | 202131411 | 202131411 | Nonsense_Mutation | C | T | p.R127* |
| HNSC | TCGA-BA-6873-01 | exon_skip_332446 exon_skip_332453 | 202131210 | 202131514 | 202131411 | 202131411 | Nonsense_Mutation | C | T | p.R68* |
| HNSC | TCGA-CN-A642-01 | exon_skip_332445 exon_skip_332449 exon_skip_332452 exon_skip_332456 | 202131184 | 202131514 | 202131411 | 202131411 | Nonsense_Mutation | C | T | p.R127* |
| HNSC | TCGA-CN-A642-01 | exon_skip_332446 exon_skip_332453 | 202131210 | 202131514 | 202131411 | 202131411 | Nonsense_Mutation | C | T | p.R127* |
| HNSC | TCGA-CV-5966-01 | exon_skip_332445 exon_skip_332449 exon_skip_332452 exon_skip_332456 | 202131184 | 202131514 | 202131498 | 202131498 | Nonsense_Mutation | C | T | p.Q156* |
| HNSC | TCGA-CV-5966-01 | exon_skip_332445 exon_skip_332449 exon_skip_332452 exon_skip_332456 | 202131184 | 202131514 | 202131498 | 202131498 | Nonsense_Mutation | C | T | p.Q97* |
| HNSC | TCGA-CV-5966-01 | exon_skip_332446 exon_skip_332453 | 202131210 | 202131514 | 202131498 | 202131498 | Nonsense_Mutation | C | T | p.Q156* |
| HNSC | TCGA-CV-5966-01 | exon_skip_332446 exon_skip_332453 | 202131210 | 202131514 | 202131498 | 202131498 | Nonsense_Mutation | C | T | p.Q97* |
| HNSC | TCGA-CV-A45O-01 | exon_skip_332460 | 202136239 | 202136344 | 202136252 | 202136252 | Nonsense_Mutation | C | T | p.Q166* |
| CESC | TCGA-DS-A0VL-01 | exon_skip_332460 | 202136239 | 202136344 | 202136259 | 202136259 | Nonsense_Mutation | C | G | p.S168* |
| LUSC | TCGA-43-5668-01 | exon_skip_332460 | 202136239 | 202136344 | 202136259 | 202136259 | Nonsense_Mutation | C | G | p.S109* |
| HNSC | TCGA-QK-A64Z-01 | exon_skip_332460 | 202136239 | 202136344 | 202136277 | 202136277 | Nonsense_Mutation | C | A | p.S174* |
| DLBC | TCGA-FF-8046-01 | exon_skip_332477 exon_skip_332470 exon_skip_332480 | 202141550 | 202141691 | 202141597 | 202141597 | Nonsense_Mutation | T | A | p.C295X |
| DLBC | TCGA-FF-8046-01 | exon_skip_332481 | 202141550 | 202141827 | 202141597 | 202141597 | Nonsense_Mutation | T | A | p.C295X |
| BRCA | TCGA-B6-A0RP-01 | exon_skip_332477 exon_skip_332470 exon_skip_332480 | 202141550 | 202141691 | 202141634 | 202141634 | Nonsense_Mutation | G | T | p.E308* |
| BRCA | TCGA-B6-A0RP-01 | exon_skip_332481 | 202141550 | 202141827 | 202141634 | 202141634 | Nonsense_Mutation | G | T | p.E308* |
| SKCM | TCGA-D3-A2JC-06 | exon_skip_332460 | 202136239 | 202136344 | 202136345 | 202136346 | Splice_Site | - | T | . |
| HNSC | TCGA-CR-7394-01 | exon_skip_332463 exon_skip_332462 | 202137621 | 202137665 | 202137620 | 202137620 | Splice_Site | G | C | p.E184_splice |
| UCEC | TCGA-AP-A056-01 | exon_skip_332463 exon_skip_332462 | 202137621 | 202137665 | 202137666 | 202137666 | Splice_Site | G | A | e5+1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-B6-A0RP-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_332481 | |
| Skipped exon start: 202141550 | |
| Skipped exon end: 202141827 | |
| Mutation start: 202141634 | |
| Mutation end: 202141634 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.E308* | |
| Sample: TCGA-B6-A0RP-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_332480 | |
| Skipped exon start: 202141550 | |
| Skipped exon end: 202141691 | |
| Mutation start: 202141634 | |
| Mutation end: 202141634 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.E308* | |
exon_skip_332481_BRCA_TCGA-B6-A0RP-01.png | |
exon_skip_3950_BRCA_TCGA-B6-A0RP-01.png | |
 | Sample: TCGA-BA-6873-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_332456 | |
| Skipped exon start: 202131184 | |
| Skipped exon end: 202131514 | |
| Mutation start: 202131411 | |
| Mutation end: 202131411 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R127* | |
| Sample: TCGA-BA-6873-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_332453 | |
| Skipped exon start: 202131210 | |
| Skipped exon end: 202131514 | |
| Mutation start: 202131411 | |
| Mutation end: 202131411 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R127* | |
| Sample: TCGA-BA-6873-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_332456 | |
| Skipped exon start: 202131184 | |
| Skipped exon end: 202131514 | |
| Mutation start: 202131411 | |
| Mutation end: 202131411 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R68* | |
| Sample: TCGA-BA-6873-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_332453 | |
| Skipped exon start: 202131210 | |
| Skipped exon end: 202131514 | |
| Mutation start: 202131411 | |
| Mutation end: 202131411 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R68* | |
exon_skip_332445_HNSC_TCGA-BA-6873-01.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 |
| A431_SKIN | 202131184 | 202131514 | 202131393 | 202131395 | In_Frame_Del | CTG | - | p.L62del |
| A431_SKIN | 202131210 | 202131514 | 202131393 | 202131395 | In_Frame_Del | CTG | - | p.L62del |
| RKO_LARGE_INTESTINE | 202136239 | 202136344 | 202136290 | 202136292 | In_Frame_Del | TTT | - | p.F120del |
| MINO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 202131184 | 202131514 | 202131217 | 202131217 | Missense_Mutation | T | G | p.F3C |
| MINO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 202131210 | 202131514 | 202131217 | 202131217 | Missense_Mutation | T | G | p.F3C |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 202131184 | 202131514 | 202131352 | 202131352 | Missense_Mutation | T | G | p.L48R |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 202131210 | 202131514 | 202131352 | 202131352 | Missense_Mutation | T | G | p.L48R |
| JHUEM7_ENDOMETRIUM | 202131184 | 202131514 | 202131412 | 202131412 | Missense_Mutation | G | A | p.R68Q |
| JHUEM7_ENDOMETRIUM | 202131210 | 202131514 | 202131412 | 202131412 | Missense_Mutation | G | A | p.R68Q |
| HT115_LARGE_INTESTINE | 202131184 | 202131514 | 202131412 | 202131412 | Missense_Mutation | G | A | p.R68Q |
| HT115_LARGE_INTESTINE | 202131210 | 202131514 | 202131412 | 202131412 | Missense_Mutation | G | A | p.R68Q |
| KYM1_SOFT_TISSUE | 202131184 | 202131514 | 202131412 | 202131412 | Missense_Mutation | G | C | p.R68P |
| KYM1_SOFT_TISSUE | 202131210 | 202131514 | 202131412 | 202131412 | Missense_Mutation | G | C | p.R68P |
| C4I_CERVIX | 202131184 | 202131514 | 202131505 | 202131505 | Missense_Mutation | C | T | p.S99F |
| C4I_CERVIX | 202131210 | 202131514 | 202131505 | 202131505 | Missense_Mutation | C | T | p.S99F |
| EFE184_ENDOMETRIUM | 202131184 | 202131514 | 202131505 | 202131505 | Missense_Mutation | C | T | p.S99F |
| EFE184_ENDOMETRIUM | 202131210 | 202131514 | 202131505 | 202131505 | Missense_Mutation | C | T | p.S99F |
| HO1N1_UPPER_AERODIGESTIVE_TRACT | 202136239 | 202136344 | 202136259 | 202136259 | Missense_Mutation | C | T | p.S109L |
| SNU407_LARGE_INTESTINE | 202136239 | 202136344 | 202136268 | 202136268 | Missense_Mutation | T | C | p.V112A |
| HEC251_ENDOMETRIUM | 202136239 | 202136344 | 202136283 | 202136283 | Missense_Mutation | T | C | p.L117S |
| HEC1A_ENDOMETRIUM | 202136239 | 202136344 | 202136294 | 202136294 | Missense_Mutation | A | G | p.K121E |
| HEC1_ENDOMETRIUM | 202136239 | 202136344 | 202136294 | 202136294 | Missense_Mutation | A | G | p.K121E |
| HEC1B_ENDOMETRIUM | 202136239 | 202136344 | 202136294 | 202136294 | Missense_Mutation | A | G | p.K121E |
| SKGT2_STOMACH | 202136239 | 202136344 | 202136296 | 202136296 | Missense_Mutation | G | C | p.K121N |
| YD10B_UPPER_AERODIGESTIVE_TRACT | 202136239 | 202136344 | 202136300 | 202136300 | Missense_Mutation | C | T | p.L123F |
| LP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 202137621 | 202137665 | 202137633 | 202137633 | Missense_Mutation | G | A | p.S188N |
| SKMEL2_SKIN | 202139612 | 202139676 | 202139661 | 202139661 | Missense_Mutation | G | T | p.Q215H |
| HCC2998_LARGE_INTESTINE | 202141550 | 202141827 | 202141573 | 202141573 | Missense_Mutation | G | T | p.M228I |
| HCC2998_LARGE_INTESTINE | 202141550 | 202141691 | 202141573 | 202141573 | Missense_Mutation | G | T | p.M228I |
| HCT15_LARGE_INTESTINE | 202141550 | 202141827 | 202141584 | 202141584 | Missense_Mutation | C | A | p.P232H |
| HCT15_LARGE_INTESTINE | 202141550 | 202141691 | 202141584 | 202141584 | Missense_Mutation | C | A | p.P232H |
| HRT18_LARGE_INTESTINE | 202141550 | 202141827 | 202141584 | 202141584 | Missense_Mutation | C | A | p.P232H |
| HRT18_LARGE_INTESTINE | 202141550 | 202141691 | 202141584 | 202141584 | Missense_Mutation | C | A | p.P232H |
| LOVO_LARGE_INTESTINE | 202141550 | 202141827 | 202141586 | 202141586 | Missense_Mutation | C | T | p.R233W |
| LOVO_LARGE_INTESTINE | 202141550 | 202141691 | 202141586 | 202141586 | Missense_Mutation | C | T | p.R233W |
| CPCN_LUNG | 202141550 | 202141827 | 202141587 | 202141587 | Missense_Mutation | G | C | p.R233P |
| CPCN_LUNG | 202141550 | 202141691 | 202141587 | 202141587 | Missense_Mutation | G | C | p.R233P |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 202141550 | 202141827 | 202141587 | 202141587 | Missense_Mutation | G | A | p.R233Q |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 202141550 | 202141691 | 202141587 | 202141587 | Missense_Mutation | G | A | p.R233Q |
| JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 202141550 | 202141827 | 202141652 | 202141652 | Missense_Mutation | C | T | p.H255Y |
| JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 202141550 | 202141691 | 202141652 | 202141652 | Missense_Mutation | C | T | p.H255Y |
| HEC251_ENDOMETRIUM | 202131184 | 202131514 | 202131315 | 202131315 | Nonsense_Mutation | G | T | p.E36* |
| HEC251_ENDOMETRIUM | 202131210 | 202131514 | 202131315 | 202131315 | Nonsense_Mutation | G | T | p.E36* |
| SIHA_CERVIX | 202131184 | 202131514 | 202131411 | 202131411 | Nonsense_Mutation | C | T | p.R68* |
| SIHA_CERVIX | 202131210 | 202131514 | 202131411 | 202131411 | Nonsense_Mutation | C | T | p.R68* |
| HEC1A_ENDOMETRIUM | 202131184 | 202131514 | 202131411 | 202131411 | Nonsense_Mutation | C | T | p.R68* |
| HEC1A_ENDOMETRIUM | 202131210 | 202131514 | 202131411 | 202131411 | Nonsense_Mutation | C | T | p.R68* |
| HEC1_ENDOMETRIUM | 202131184 | 202131514 | 202131411 | 202131411 | Nonsense_Mutation | C | T | p.R68* |
| HEC1_ENDOMETRIUM | 202131210 | 202131514 | 202131411 | 202131411 | Nonsense_Mutation | C | T | p.R68* |
| HEC1B_ENDOMETRIUM | 202131184 | 202131514 | 202131411 | 202131411 | Nonsense_Mutation | C | T | p.R68* |
| HEC1B_ENDOMETRIUM | 202131210 | 202131514 | 202131411 | 202131411 | Nonsense_Mutation | C | T | p.R68* |
| KYSE150_OESOPHAGUS | 202136239 | 202136344 | 202136306 | 202136306 | Nonsense_Mutation | C | T | p.Q125* |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CASP8 |
| 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 CASP8 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CASP8 |
Top |
RelatedDrugs for CASP8 |
| 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 CASP8 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CASP8 | C1458155 | Mammary Neoplasms | 3 | CTD_human |
| CASP8 | C0014859 | Esophageal Neoplasms | 2 | CTD_human |
| CASP8 | C0025202 | melanoma | 2 | CTD_human |
| CASP8 | C0001418 | Adenocarcinoma | 1 | CTD_human |
| CASP8 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| CASP8 | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
| CASP8 | C0007873 | Uterine Cervical Neoplasm | 1 | CTD_human |
| CASP8 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| CASP8 | C0011616 | Contact Dermatitis | 1 | CTD_human |
| CASP8 | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
| CASP8 | C0013604 | Edema | 1 | CTD_human |
| CASP8 | C0024121 | Lung Neoplasms | 1 | CTD_human |
| CASP8 | C0027055 | Myocardial Reperfusion Injury | 1 | CTD_human |
| CASP8 | C0035126 | Reperfusion Injury | 1 | CTD_human |
| CASP8 | C0037286 | Skin Neoplasms | 1 | CTD_human |
| CASP8 | C0038220 | Status Epilepticus | 1 | CTD_human |
| CASP8 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| CASP8 | C0162820 | Dermatitis, Allergic Contact | 1 | CTD_human |
| CASP8 | C0950124 | Papillomavirus Infections | 1 | CTD_human |
| CASP8 | C1168401 | Squamous cell carcinoma of the head and neck | 1 | CTD_human |
| CASP8 | C1846545 | Autoimmune Lymphoproliferative Syndrome Type 2B | 1 | ORPHANET;UNIPROT |
| CASP8 | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 1 | CTD_human |
| CASP8 | C2937358 | Cerebral Hemorrhage | 1 | CTD_human |
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