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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 TESPA1 |
 Gene summary |
| Gene information | Gene symbol | TESPA1 | Gene ID | 9840 |
| Gene name | thymocyte expressed, positive selection associated 1 | |
| Synonyms | HSPC257|KIAA0748 | |
| Cytomap | 12q13.2 | |
| Type of gene | protein-coding | |
| Description | protein TESPA1thymocyte-expressed positive selection-associated protein 1 | |
| Modification date | 20180523 | |
| UniProtAcc | A2RU30 | |
| Context | PubMed: TESPA1 [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 TESPA1 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 TESPA1 |
| 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 TESPA1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_93106 | 12 | 55344137:55344174:55354951:55355051:55356214:55356481 | 55354951:55355051 | ENSG00000135426.10 | ENST00000449076.1,ENST00000316577.8,ENST00000532804.1,ENST00000524622.1,ENST00000524923.1,ENST00000531122.1 |
| exon_skip_93109 | 12 | 55357642:55357734:55359836:55359935:55360171:55360208 | 55359836:55359935 | ENSG00000135426.10 | ENST00000525978.1,ENST00000449076.1,ENST00000532757.1,ENST00000316577.8,ENST00000532804.1,ENST00000526532.1,ENST00000524622.1,ENST00000524923.1,ENST00000533446.1,ENST00000531122.1 |
| exon_skip_93110 | 12 | 55368203:55368391:55375557:55375729:55377777:55377862 | 55375557:55375729 | ENSG00000135426.10 | ENST00000524668.1 |
| exon_skip_93113 | 12 | 55368203:55368391:55377777:55377950:55378368:55378456 | 55377777:55377950 | ENSG00000135426.10 | ENST00000533607.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TESPA1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_93106 | 12 | 55344137:55344174:55354951:55355051:55356214:55356481 | 55354951:55355051 | ENSG00000135426.10 | ENST00000524622.1,ENST00000524923.1,ENST00000532804.1,ENST00000449076.1,ENST00000316577.8,ENST00000531122.1 |
| exon_skip_93109 | 12 | 55357642:55357734:55359836:55359935:55360171:55360208 | 55359836:55359935 | ENSG00000135426.10 | ENST00000524622.1,ENST00000524923.1,ENST00000532804.1,ENST00000449076.1,ENST00000316577.8,ENST00000532757.1,ENST00000531122.1,ENST00000526532.1,ENST00000533446.1,ENST00000525978.1 |
| exon_skip_93110 | 12 | 55368203:55368391:55375557:55375729:55377777:55377862 | 55375557:55375729 | ENSG00000135426.10 | ENST00000524668.1 |
| exon_skip_93113 | 12 | 55368203:55368391:55377777:55377950:55378368:55378456 | 55377777:55377950 | ENSG00000135426.10 | ENST00000533607.1 |
| 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 TESPA1 |
| 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 |
| ENST00000316577 | 55354951 | 55355051 | 5CDS-5UTR |
| ENST00000449076 | 55354951 | 55355051 | 5CDS-5UTR |
| ENST00000316577 | 55359836 | 55359935 | In-frame |
| ENST00000449076 | 55359836 | 55359935 | 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 |
| ENST00000316577 | 55354951 | 55355051 | 5CDS-5UTR |
| ENST00000449076 | 55354951 | 55355051 | 5CDS-5UTR |
| ENST00000316577 | 55359836 | 55359935 | In-frame |
| ENST00000449076 | 55359836 | 55359935 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TESPA1 |
| 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 |
| ENST00000316577 | 1915 | 521 | 55359836 | 55359935 | 458 | 556 | 116 | 148 |
| ENST00000449076 | 2027 | 521 | 55359836 | 55359935 | 481 | 579 | 116 | 148 |
| 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 |
| ENST00000316577 | 1915 | 521 | 55359836 | 55359935 | 458 | 556 | 116 | 148 |
| ENST00000449076 | 2027 | 521 | 55359836 | 55359935 | 481 | 579 | 116 | 148 |
| 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 |
| A2RU30 | 116 | 148 | 1 | 138 | Alternative sequence | ID=VSP_030488;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9872452;Dbxref=PMID:14702039,PMID:15489334,PMID:9872452 |
| A2RU30 | 116 | 148 | 1 | 138 | Alternative sequence | ID=VSP_030488;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9872452;Dbxref=PMID:14702039,PMID:15489334,PMID:9872452 |
| A2RU30 | 116 | 148 | 1 | 521 | Chain | ID=PRO_0000315219;Note=Protein TESPA1 |
| A2RU30 | 116 | 148 | 1 | 521 | Chain | ID=PRO_0000315219;Note=Protein TESPA1 |
| 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 |
| A2RU30 | 116 | 148 | 1 | 138 | Alternative sequence | ID=VSP_030488;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9872452;Dbxref=PMID:14702039,PMID:15489334,PMID:9872452 |
| A2RU30 | 116 | 148 | 1 | 138 | Alternative sequence | ID=VSP_030488;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9872452;Dbxref=PMID:14702039,PMID:15489334,PMID:9872452 |
| A2RU30 | 116 | 148 | 1 | 521 | Chain | ID=PRO_0000315219;Note=Protein TESPA1 |
| A2RU30 | 116 | 148 | 1 | 521 | Chain | ID=PRO_0000315219;Note=Protein TESPA1 |
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SNVs in the skipped exons for TESPA1 |
| - 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 |
| LUAD | TCGA-17-Z031-01 | exon_skip_93109 | 55359837 | 55359935 | 55359857 | 55359857 | Frame_Shift_Del | C | - | p.G4fs |
| PCPG | TCGA-QR-A6ZZ-01 | exon_skip_93109 | 55359837 | 55359935 | 55359857 | 55359857 | Frame_Shift_Del | C | - | p.G4fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_93109 | 55359837 | 55359935 | 55359882 | 55359882 | Frame_Shift_Del | A | - | p.L134fs |
| STAD | TCGA-FP-A4BE-01 | exon_skip_93106 | 55354952 | 55355051 | 55354984 | 55354985 | Frame_Shift_Ins | - | GG | p.H512fs |
| UCEC | TCGA-B5-A0K7-01 | exon_skip_93109 | 55359837 | 55359935 | 55359856 | 55359857 | Frame_Shift_Ins | - | C | p.G142fs |
| - 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 |
| HARA_LUNG | 55359837 | 55359935 | 55359888 | 55359888 | Missense_Mutation | C | A | p.C132F |
| NCIH647_LUNG | 55359837 | 55359935 | 55359925 | 55359925 | Missense_Mutation | C | T | p.E120K |
| KYSE30_OESOPHAGUS | 55354952 | 55355051 | 55355050 | 55355050 | Splice_Site | A | G | p.V490A |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TESPA1 |
| 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 TESPA1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TESPA1 |
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RelatedDrugs for TESPA1 |
| 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 TESPA1 |
| 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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