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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 CST1 |
 Gene summary |
| Gene information | Gene symbol | CST1 | Gene ID | 1469 |
| Gene name | cystatin SN | |
| Synonyms | - | |
| Cytomap | 20p11.21 | |
| Type of gene | protein-coding | |
| Description | cystatin-SNcystain-SA-Icystatin 1cystatin SA-Icysteine proteinase inhibitor, type 2 familysalivary cystatin-SA-1 | |
| Modification date | 20180523 | |
| UniProtAcc | P01037 | |
| Context | PubMed: CST1 [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 |
| CST1 | GO:0001580 | detection of chemical stimulus involved in sensory perception of bitter taste | 24248522 |
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Exon skipping events across known transcript of Ensembl for CST1 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 CST1 |
| 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 CST1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_355405 | 20 | 23728511:23728536:23729652:23729766:23731275:23731535 | 23729652:23729766 | ENSG00000170373.4 | ENST00000398402.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CST1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| 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 CST1 |
| 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 |
| ENST00000398402 | 23729652 | 23729766 | 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 |
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Infer the effects of exon skipping event on protein functional features for CST1 |
| 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 |
| ENST00000398402 | 672 | 141 | 23729652 | 23729766 | 373 | 486 | 76 | 114 |
| 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 |
| P01037 | 76 | 114 | 21 | 141 | Chain | ID=PRO_0000006649;Note=Cystatin-SN |
| P01037 | 76 | 114 | 94 | 104 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20189825;Dbxref=PMID:20189825 |
| P01037 | 76 | 114 | 76 | 80 | Motif | Note=Secondary area of contact |
| 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 CST1 |
| - 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 |
| COAD | TCGA-CK-5916-01 | exon_skip_355405 | 23729653 | 23729766 | 23729754 | 23729754 | Frame_Shift_Del | C | - | p.V81fs |
| STAD | TCGA-CG-5721-01 | exon_skip_355405 | 23729653 | 23729766 | 23729754 | 23729754 | Frame_Shift_Del | C | - | p.V81fs |
| STAD | TCGA-HU-A4G9-01 | exon_skip_355405 | 23729653 | 23729766 | 23729754 | 23729754 | Frame_Shift_Del | C | - | p.V81fs |
| STAD | TCGA-HU-A4GX-01 | exon_skip_355405 | 23729653 | 23729766 | 23729754 | 23729754 | Frame_Shift_Del | C | - | p.V81fs |
| COAD | TCGA-AA-3663-01 | exon_skip_355405 | 23729653 | 23729766 | 23729753 | 23729754 | Frame_Shift_Ins | - | C | p.V81fs |
| KIRC | TCGA-A3-3346-01 | exon_skip_355405 | 23729653 | 23729766 | 23729753 | 23729754 | Frame_Shift_Ins | - | C | p.E81fs |
| KIRC | TCGA-A3-3372-01 | exon_skip_355405 | 23729653 | 23729766 | 23729753 | 23729754 | Frame_Shift_Ins | - | C | p.E81fs |
| KIRC | TCGA-A3-3374-01 | exon_skip_355405 | 23729653 | 23729766 | 23729753 | 23729754 | Frame_Shift_Ins | - | C | p.E81fs |
| KIRC | TCGA-AK-3440-01 | exon_skip_355405 | 23729653 | 23729766 | 23729753 | 23729754 | Frame_Shift_Ins | - | C | p.E81fs |
| KIRC | TCGA-AS-3777-01 | exon_skip_355405 | 23729653 | 23729766 | 23729753 | 23729754 | Frame_Shift_Ins | - | C | p.E81fs |
| LUAD | TCGA-35-3615-01 | exon_skip_355405 | 23729653 | 23729766 | 23729753 | 23729754 | Frame_Shift_Ins | - | C | p.E81fs |
| LUAD | TCGA-44-2655-01 | exon_skip_355405 | 23729653 | 23729766 | 23729753 | 23729754 | Frame_Shift_Ins | - | C | p.E81fs |
| LUAD | TCGA-44-2656-01 | exon_skip_355405 | 23729653 | 23729766 | 23729753 | 23729754 | Frame_Shift_Ins | - | C | p.V81fs |
| LUAD | TCGA-44-2666-01 | exon_skip_355405 | 23729653 | 23729766 | 23729753 | 23729754 | Frame_Shift_Ins | - | C | p.E81fs |
| LUAD | TCGA-55-1596-01 | exon_skip_355405 | 23729653 | 23729766 | 23729753 | 23729754 | Frame_Shift_Ins | - | C | p.E81fs |
| LUAD | TCGA-64-1678-01 | exon_skip_355405 | 23729653 | 23729766 | 23729753 | 23729754 | Frame_Shift_Ins | - | C | p.V81fs |
| LUAD | TCGA-67-3771-01 | exon_skip_355405 | 23729653 | 23729766 | 23729753 | 23729754 | Frame_Shift_Ins | - | C | p.E81fs |
| UCEC | TCGA-BG-A0M0-01 | exon_skip_355405 | 23729653 | 23729766 | 23729753 | 23729754 | Frame_Shift_Ins | - | C | p.V81fs |
| UCEC | TCGA-BG-A0M3-01 | exon_skip_355405 | 23729653 | 23729766 | 23729753 | 23729754 | Frame_Shift_Ins | - | C | p.V81fs |
| UCEC | TCGA-BG-A0M9-01 | exon_skip_355405 | 23729653 | 23729766 | 23729753 | 23729754 | Frame_Shift_Ins | - | C | p.V81fs |
| - 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 |
| MDAPCA2B_PROSTATE | 23729653 | 23729766 | 23729754 | 23729754 | Frame_Shift_Del | C | - | p.V81fs |
| SNUC2A_LARGE_INTESTINE | 23729653 | 23729766 | 23729754 | 23729754 | Frame_Shift_Del | C | - | p.V81fs |
| OVK18_OVARY | 23729653 | 23729766 | 23729754 | 23729754 | Frame_Shift_Del | C | - | p.V81fs |
| SNUC2B_LARGE_INTESTINE | 23729653 | 23729766 | 23729754 | 23729754 | Frame_Shift_Del | C | - | p.V81fs |
| G361_SKIN | 23729653 | 23729766 | 23729753 | 23729754 | Frame_Shift_Ins | - | T | p.V81fs |
| UMUC1_URINARY_TRACT | 23729653 | 23729766 | 23729737 | 23729742 | In_Frame_Del | GTCGAA | - | p.FD85del |
| A498_KIDNEY | 23729653 | 23729766 | 23729669 | 23729669 | Missense_Mutation | T | G | p.Q109P |
| JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 23729653 | 23729766 | 23729673 | 23729673 | Missense_Mutation | C | T | p.E108K |
| SNU1040_LARGE_INTESTINE | 23729653 | 23729766 | 23729685 | 23729685 | Missense_Mutation | A | G | p.C104R |
| MCC13_SKIN | 23729653 | 23729766 | 23729727 | 23729727 | Missense_Mutation | C | T | p.G90S |
| SW1088_CENTRAL_NERVOUS_SYSTEM | 23729653 | 23729766 | 23729727 | 23729727 | Missense_Mutation | C | T | p.G90S |
| HCC95_LUNG | 23729653 | 23729766 | 23729751 | 23729751 | Missense_Mutation | T | C | p.N82D |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CST1 |
| 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 CST1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CST1 |
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RelatedDrugs for CST1 |
| 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 CST1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CST1 | C0018621 | Hay fever | 1 | CTD_human |
| CST1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| CST1 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
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