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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 TYSND1 |
 Gene summary |
| Gene information | Gene symbol | TYSND1 | Gene ID | 219743 |
| Gene name | trypsin domain containing 1 | |
| Synonyms | NET41 | |
| Cytomap | 10q22.1 | |
| Type of gene | protein-coding | |
| Description | peroxisomal leader peptide-processing proteaseperoxisomal cysteine endopeptidasetrypsin domain-containing protein 1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q2T9J0 | |
| Context | PubMed: TYSND1 [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 |
| TYSND1 | GO:0051260 | protein homooligomerization | 22002062 |
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Exon skipping events across known transcript of Ensembl for TYSND1 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 TYSND1 |
| 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 TYSND1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_49855 | 10 | 71899109:71899897:71902423:71902609:71903597:71903728 | 71902423:71902609 | ENSG00000156521.9 | ENST00000479086.1,ENST00000287078.6 |
| exon_skip_49877 | 10 | 71902520:71902609:71903597:71903728:71905176:71906342 | 71903597:71903728 | ENSG00000156521.9 | ENST00000287078.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TYSND1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_49855 | 10 | 71899109:71899897:71902423:71902609:71903597:71903728 | 71902423:71902609 | ENSG00000156521.9 | ENST00000287078.6,ENST00000479086.1 |
| exon_skip_49877 | 10 | 71902520:71902609:71903597:71903728:71905176:71906342 | 71903597:71903728 | ENSG00000156521.9 | ENST00000287078.6 |
| 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 TYSND1 |
| 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 |
| ENST00000287078 | 71903597 | 71903728 | Frame-shift |
| ENST00000287078 | 71902423 | 71902609 | 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 |
| ENST00000287078 | 71903597 | 71903728 | Frame-shift |
| ENST00000287078 | 71902423 | 71902609 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TYSND1 |
| 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 |
| ENST00000287078 | 3661 | 566 | 71902423 | 71902609 | 1298 | 1483 | 432 | 494 |
| 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 |
| ENST00000287078 | 3661 | 566 | 71902423 | 71902609 | 1298 | 1483 | 432 | 494 |
| 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 |
| Q2T9J0 | 432 | 494 | 481 | 481 | Active site | Note=Charge relay system;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q2T9J0 | 432 | 494 | 399 | 566 | Alternative sequence | ID=VSP_025001;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q2T9J0 | 432 | 494 | 1 | 566 | Chain | ID=PRO_0000286124;Note=Peroxisomal leader peptide-processing protease |
| Q2T9J0 | 432 | 494 | 111 | 566 | Chain | ID=PRO_0000286126;Note=Peroxisomal leader peptide-processing protease%2C 45 kDa form |
| Q2T9J0 | 432 | 494 | 481 | 481 | Mutagenesis | Note=Abrogates the self-cleaving activity of TYSND1. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22002062;Dbxref=PMID:22002062 |
| Q2T9J0 | 432 | 494 | 319 | 531 | Region | Note=Serine protease |
| 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 |
| Q2T9J0 | 432 | 494 | 481 | 481 | Active site | Note=Charge relay system;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q2T9J0 | 432 | 494 | 399 | 566 | Alternative sequence | ID=VSP_025001;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q2T9J0 | 432 | 494 | 1 | 566 | Chain | ID=PRO_0000286124;Note=Peroxisomal leader peptide-processing protease |
| Q2T9J0 | 432 | 494 | 111 | 566 | Chain | ID=PRO_0000286126;Note=Peroxisomal leader peptide-processing protease%2C 45 kDa form |
| Q2T9J0 | 432 | 494 | 481 | 481 | Mutagenesis | Note=Abrogates the self-cleaving activity of TYSND1. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22002062;Dbxref=PMID:22002062 |
| Q2T9J0 | 432 | 494 | 319 | 531 | Region | Note=Serine protease |
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SNVs in the skipped exons for TYSND1 |
| - 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 |
| HNSC | TCGA-CV-5444-01 | exon_skip_49855 | 71902424 | 71902609 | 71902546 | 71902546 | Nonsense_Mutation | G | C | p.S454* |
| UCEC | TCGA-AP-A0LI-01 | exon_skip_49877 | 71903598 | 71903728 | 71903691 | 71903691 | Nonsense_Mutation | G | A | p.Q402* |
| - 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 |
| NCIH23_LUNG | 71903598 | 71903728 | 71903662 | 71903663 | In_Frame_Ins | - | ACT | p.411_411V>VV |
| HEC108_ENDOMETRIUM | 71902424 | 71902609 | 71902442 | 71902442 | Missense_Mutation | G | A | p.H489Y |
| SBC1_LUNG | 71902424 | 71902609 | 71902510 | 71902510 | Missense_Mutation | G | A | p.T466M |
| SNU1076_UPPER_AERODIGESTIVE_TRACT | 71903598 | 71903728 | 71903605 | 71903605 | Missense_Mutation | G | C | p.F430L |
| CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 71903598 | 71903728 | 71903616 | 71903616 | Missense_Mutation | C | T | p.A427T |
| NCIH1155_LUNG | 71903598 | 71903728 | 71903721 | 71903721 | Missense_Mutation | C | T | p.A392T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TYSND1 |
| 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 TYSND1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TYSND1 |
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RelatedDrugs for TYSND1 |
| 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 TYSND1 |
| 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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