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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 CASC1 |
 Gene summary |
| Gene information | Gene symbol | CASC1 | Gene ID | 55259 |
| Gene name | cancer susceptibility 1 | |
| Synonyms | LAS1|PPP1R54 | |
| Cytomap | 12p12.1 | |
| Type of gene | protein-coding | |
| Description | protein CASC1cancer susceptibility candidate 1cancer susceptibility candidate gene 1 proteinlung adenoma susceptibility 1-like proteinprotein phosphatase 1 regulatory subunit 54 | |
| Modification date | 20180519 | |
| UniProtAcc | Q6TDU7 | |
| Context | PubMed: CASC1 [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 |
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Exon skipping events across known transcript of Ensembl for CASC1 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 CASC1 |
| 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 CASC1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_90624 | 12 | 25267590:25267804:25272078:25272235:25274686:25274842 | 25272078:25272235 | ENSG00000118307.14 | ENST00000395990.2,ENST00000395987.3,ENST00000354189.5,ENST00000537577.1,ENST00000556006.2,ENST00000545133.1,ENST00000554533.1,ENST00000320267.9 |
| exon_skip_90626 | 12 | 25267590:25267804:25272092:25272235:25274686:25274842 | 25272092:25272235 | ENSG00000118307.14 | ENST00000557684.1 |
| exon_skip_90634 | 12 | 25272092:25272235:25274686:25274847:25276144:25276220 | 25274686:25274847 | ENSG00000118307.14 | ENST00000395990.2,ENST00000395987.3,ENST00000354189.5,ENST00000537577.1,ENST00000557684.1,ENST00000556006.2,ENST00000545133.1,ENST00000554533.1,ENST00000320267.9 |
| exon_skip_90635 | 12 | 25276144:25276220:25297298:25297611:25299934:25300038 | 25297298:25297611 | ENSG00000118307.14 | ENST00000395990.2,ENST00000395987.3,ENST00000354189.5,ENST00000537577.1,ENST00000557684.1,ENST00000545133.1,ENST00000554533.1,ENST00000320267.9 |
| exon_skip_90639 | 12 | 25308244:25308346:25311405:25311497:25314010:25314131 | 25311405:25311497 | ENSG00000118307.14 | ENST00000555240.1 |
| exon_skip_90640 | 12 | 25308244:25308346:25311405:25311497:25314046:25314131 | 25311405:25311497 | ENSG00000118307.14 | ENST00000395990.2,ENST00000395987.3,ENST00000354189.5,ENST00000557684.1,ENST00000554347.1,ENST00000320267.9 |
| exon_skip_90643 | 12 | 25308244:25308346:25311405:25311671:25314046:25314131 | 25311405:25311671 | ENSG00000118307.14 | ENST00000556547.1 |
| exon_skip_90646 | 12 | 25308244:25308346:25314046:25314131:25348009:25348060 | 25314046:25314131 | ENSG00000118307.14 | ENST00000537577.1,ENST00000554533.1 |
| exon_skip_90648 | 12 | 25311405:25311497:25311623:25311671:25314046:25314131 | 25311623:25311671 | ENSG00000118307.14 | ENST00000556467.1 |
| exon_skip_90652 | 12 | 25311405:25311497:25314046:25314131:25348009:25348060 | 25314046:25314131 | ENSG00000118307.14 | ENST00000557684.1,ENST00000320267.9 |
| exon_skip_90654 | 12 | 25311623:25311671:25314046:25314131:25348009:25348060 | 25314046:25314131 | ENSG00000118307.14 | ENST00000556467.1,ENST00000556547.1 |
| exon_skip_90656 | 12 | 25314046:25314131:25343547:25343565:25347819:25348032 | 25343547:25343565 | ENSG00000118307.14 | ENST00000354189.5 |
| exon_skip_90657 | 12 | 25314046:25314131:25343547:25343565:25348009:25348060 | 25343547:25343565 | ENSG00000118307.14 | ENST00000395987.3 |
| exon_skip_90658 | 12 | 25314046:25314131:25345627:25345760:25348009:25348064 | 25345627:25345760 | ENSG00000118307.14 | ENST00000554347.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CASC1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_90624 | 12 | 25267590:25267804:25272078:25272235:25274686:25274842 | 25272078:25272235 | ENSG00000118307.14 | ENST00000556006.2,ENST00000354189.5,ENST00000395987.3,ENST00000320267.9,ENST00000395990.2,ENST00000554533.1,ENST00000537577.1,ENST00000545133.1 |
| exon_skip_90626 | 12 | 25267590:25267804:25272092:25272235:25274686:25274842 | 25272092:25272235 | ENSG00000118307.14 | ENST00000557684.1 |
| exon_skip_90634 | 12 | 25272092:25272235:25274686:25274847:25276144:25276220 | 25274686:25274847 | ENSG00000118307.14 | ENST00000556006.2,ENST00000354189.5,ENST00000395987.3,ENST00000320267.9,ENST00000395990.2,ENST00000554533.1,ENST00000537577.1,ENST00000545133.1,ENST00000557684.1 |
| exon_skip_90635 | 12 | 25276144:25276220:25297298:25297611:25299934:25300038 | 25297298:25297611 | ENSG00000118307.14 | ENST00000354189.5,ENST00000395987.3,ENST00000320267.9,ENST00000395990.2,ENST00000554533.1,ENST00000537577.1,ENST00000545133.1,ENST00000557684.1 |
| exon_skip_90639 | 12 | 25308244:25308346:25311405:25311497:25314010:25314131 | 25311405:25311497 | ENSG00000118307.14 | ENST00000555240.1 |
| exon_skip_90640 | 12 | 25308244:25308346:25311405:25311497:25314046:25314131 | 25311405:25311497 | ENSG00000118307.14 | ENST00000354189.5,ENST00000395987.3,ENST00000320267.9,ENST00000395990.2,ENST00000557684.1,ENST00000554347.1 |
| exon_skip_90643 | 12 | 25308244:25308346:25311405:25311671:25314046:25314131 | 25311405:25311671 | ENSG00000118307.14 | ENST00000556547.1 |
| exon_skip_90646 | 12 | 25308244:25308346:25314046:25314131:25348009:25348060 | 25314046:25314131 | ENSG00000118307.14 | ENST00000554533.1,ENST00000537577.1 |
| exon_skip_90652 | 12 | 25311405:25311497:25314046:25314131:25348009:25348060 | 25314046:25314131 | ENSG00000118307.14 | ENST00000320267.9,ENST00000557684.1 |
| exon_skip_90654 | 12 | 25311623:25311671:25314046:25314131:25348009:25348060 | 25314046:25314131 | ENSG00000118307.14 | ENST00000556547.1,ENST00000556467.1 |
| exon_skip_90656 | 12 | 25314046:25314131:25343547:25343565:25347819:25348032 | 25343547:25343565 | ENSG00000118307.14 | ENST00000354189.5 |
| exon_skip_90657 | 12 | 25314046:25314131:25343547:25343565:25348009:25348060 | 25343547:25343565 | ENSG00000118307.14 | ENST00000395987.3 |
| exon_skip_90658 | 12 | 25314046:25314131:25345627:25345760:25348009:25348064 | 25345627:25345760 | ENSG00000118307.14 | ENST00000554347.1 |
| 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 CASC1 |
| 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 |
| ENST00000320267 | 25272078 | 25272235 | Frame-shift |
| ENST00000320267 | 25274686 | 25274847 | Frame-shift |
| ENST00000320267 | 25297298 | 25297611 | Frame-shift |
| ENST00000320267 | 25311405 | 25311497 | Frame-shift |
| ENST00000320267 | 25314046 | 25314131 | Frame-shift |
| 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 |
| ENST00000320267 | 25272078 | 25272235 | Frame-shift |
| ENST00000320267 | 25274686 | 25274847 | Frame-shift |
| ENST00000320267 | 25297298 | 25297611 | Frame-shift |
| ENST00000320267 | 25311405 | 25311497 | Frame-shift |
| ENST00000320267 | 25314046 | 25314131 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for CASC1 |
| 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 |
| 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 |
| 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 CASC1 |
| - 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 |
| DLBC | TCGA-GS-A9TU-01 | exon_skip_90635 | 25297299 | 25297611 | 25297343 | 25297343 | Nonsense_Mutation | C | A | p.E378X |
| UCEC | TCGA-D1-A17Q-01 | exon_skip_90635 | 25297299 | 25297611 | 25297469 | 25297469 | Nonsense_Mutation | C | A | p.E278* |
| UCEC | TCGA-AP-A056-01 | exon_skip_90635 | 25297299 | 25297611 | 25297532 | 25297532 | Nonsense_Mutation | G | A | p.R257* |
| - 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 |
| SCABER_URINARY_TRACT | 25272079 | 25272235 | 25272099 | 25272099 | Missense_Mutation | A | G | p.V453A |
| SCABER_URINARY_TRACT | 25272093 | 25272235 | 25272099 | 25272099 | Missense_Mutation | A | G | p.V453A |
| KLE_ENDOMETRIUM | 25272079 | 25272235 | 25272198 | 25272198 | Missense_Mutation | G | A | p.P420L |
| KLE_ENDOMETRIUM | 25272093 | 25272235 | 25272198 | 25272198 | Missense_Mutation | G | A | p.P420L |
| SW684_SOFT_TISSUE | 25272079 | 25272235 | 25272201 | 25272201 | Missense_Mutation | G | A | p.P419L |
| SW684_SOFT_TISSUE | 25272093 | 25272235 | 25272201 | 25272201 | Missense_Mutation | G | A | p.P419L |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 25272079 | 25272235 | 25272219 | 25272219 | Missense_Mutation | A | G | p.L413S |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 25272093 | 25272235 | 25272219 | 25272219 | Missense_Mutation | A | G | p.L413S |
| SNU1040_LARGE_INTESTINE | 25274687 | 25274847 | 25274691 | 25274691 | Missense_Mutation | A | G | p.V406A |
| SW684_SOFT_TISSUE | 25274687 | 25274847 | 25274694 | 25274694 | Missense_Mutation | A | T | p.I405N |
| HT115_LARGE_INTESTINE | 25274687 | 25274847 | 25274695 | 25274695 | Missense_Mutation | T | C | p.I405V |
| GEO_LARGE_INTESTINE | 25274687 | 25274847 | 25274698 | 25274698 | Missense_Mutation | T | C | p.M404V |
| 647V_URINARY_TRACT | 25274687 | 25274847 | 25274823 | 25274823 | Missense_Mutation | G | T | p.S362Y |
| P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 25297299 | 25297611 | 25297312 | 25297312 | Missense_Mutation | A | G | p.I324T |
| SW620_LARGE_INTESTINE | 25297299 | 25297611 | 25297418 | 25297418 | Missense_Mutation | C | T | p.E289K |
| HT115_LARGE_INTESTINE | 25297299 | 25297611 | 25297425 | 25297425 | Missense_Mutation | C | A | p.K286N |
| HEC251_ENDOMETRIUM | 25297299 | 25297611 | 25297436 | 25297436 | Missense_Mutation | C | A | p.D283Y |
| DMS454_LUNG | 25297299 | 25297611 | 25297593 | 25297593 | Missense_Mutation | G | C | p.F230L |
| ALLPO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 25311406 | 25311671 | 25311443 | 25311443 | Missense_Mutation | C | T | p.R48Q |
| ALLPO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 25311406 | 25311497 | 25311443 | 25311443 | Missense_Mutation | C | T | p.R48Q |
| SNU81_LARGE_INTESTINE | 25311406 | 25311671 | 25311484 | 25311484 | Missense_Mutation | C | A | p.L34F |
| SNU81_LARGE_INTESTINE | 25311406 | 25311497 | 25311484 | 25311484 | Missense_Mutation | C | A | p.L34F |
| LOXIMVI_SKIN | 25314047 | 25314131 | 25314100 | 25314100 | Missense_Mutation | G | A | p.A12V |
| HCC2998_LARGE_INTESTINE | 25297299 | 25297611 | 25297469 | 25297469 | Nonsense_Mutation | C | A | p.E272* |
| HEC59_ENDOMETRIUM | 25311406 | 25311671 | 25311444 | 25311444 | Nonsense_Mutation | G | A | p.R48* |
| HEC59_ENDOMETRIUM | 25311406 | 25311497 | 25311444 | 25311444 | Nonsense_Mutation | G | A | p.R48* |
| SNU324_PANCREAS | 25314047 | 25314131 | 25314095 | 25314095 | Nonsense_Mutation | G | A | p.R14* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CASC1 |
| 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 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CASC1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CASC1 |
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RelatedDrugs for CASC1 |
| 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 CASC1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CASC1 | C0024121 | Lung Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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