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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 TSNARE1 |
 Gene summary |
| Gene information | Gene symbol | TSNARE1 | Gene ID | 203062 |
| Gene name | t-SNARE domain containing 1 | |
| Synonyms | - | |
| Cytomap | 8q24.3 | |
| Type of gene | protein-coding | |
| Description | t-SNARE domain-containing protein 1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q96NA8 | |
| Context | PubMed: TSNARE1 [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 TSNARE1 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 TSNARE1 |
| 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 TSNARE1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_493047 | 8 | 143352927:143353052:143356141:143356224:143361220:143361358 | 143356141:143356224 | ENSG00000171045.10 | ENST00000521825.1 |
| exon_skip_493048 | 8 | 143352927:143353052:143356141:143356224:143365773:143365846 | 143356141:143356224 | ENSG00000171045.10 | ENST00000519651.1 |
| exon_skip_493068 | 8 | 143356141:143356224:143365773:143365846:143381846:143382005 | 143365773:143365846 | ENSG00000171045.10 | ENST00000519651.1,ENST00000524325.1,ENST00000307180.3,ENST00000520166.1 |
| exon_skip_493078 | 8 | 143396363:143396450:143399904:143399995:143412261:143412331 | 143399904:143399995 | ENSG00000171045.10 | ENST00000519651.1,ENST00000524325.1,ENST00000520166.1 |
| exon_skip_493081 | 8 | 143396363:143396453:143399904:143399995:143412261:143412331 | 143399904:143399995 | ENSG00000171045.10 | ENST00000307180.3 |
| exon_skip_493088 | 8 | 143413114:143413192:143435997:143436124:143484464:143484529 | 143435997:143436124 | ENSG00000171045.10 | ENST00000519651.1 |
| exon_skip_493089 | 8 | 143425713:143425833:143427103:143427253:143435997:143436119 | 143427103:143427253 | ENSG00000171045.10 | ENST00000524325.1,ENST00000520462.1,ENST00000518720.1,ENST00000307180.3,ENST00000520166.1 |
| exon_skip_493096 | 8 | 143427103:143427253:143435997:143436124:143484464:143484529 | 143435997:143436124 | ENSG00000171045.10 | ENST00000307180.3 |
| exon_skip_493099 | 8 | 143435997:143436124:143447271:143447378:143484464:143484529 | 143447271:143447378 | ENSG00000171045.10 | ENST00000518720.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TSNARE1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_493047 | 8 | 143352927:143353052:143356141:143356224:143361220:143361358 | 143356141:143356224 | ENSG00000171045.10 | ENST00000521825.1 |
| exon_skip_493048 | 8 | 143352927:143353052:143356141:143356224:143365773:143365846 | 143356141:143356224 | ENSG00000171045.10 | ENST00000519651.1 |
| exon_skip_493068 | 8 | 143356141:143356224:143365773:143365846:143381846:143382005 | 143365773:143365846 | ENSG00000171045.10 | ENST00000524325.1,ENST00000307180.3,ENST00000520166.1,ENST00000519651.1 |
| exon_skip_493078 | 8 | 143396363:143396450:143399904:143399995:143412261:143412331 | 143399904:143399995 | ENSG00000171045.10 | ENST00000524325.1,ENST00000520166.1,ENST00000519651.1 |
| exon_skip_493081 | 8 | 143396363:143396453:143399904:143399995:143412261:143412331 | 143399904:143399995 | ENSG00000171045.10 | ENST00000307180.3 |
| exon_skip_493088 | 8 | 143413114:143413192:143435997:143436124:143484464:143484529 | 143435997:143436124 | ENSG00000171045.10 | ENST00000519651.1 |
| exon_skip_493089 | 8 | 143425713:143425833:143427103:143427253:143435997:143436119 | 143427103:143427253 | ENSG00000171045.10 | ENST00000524325.1,ENST00000307180.3,ENST00000520166.1,ENST00000520462.1,ENST00000518720.1 |
| exon_skip_493096 | 8 | 143427103:143427253:143435997:143436124:143484464:143484529 | 143435997:143436124 | ENSG00000171045.10 | ENST00000307180.3 |
| exon_skip_493099 | 8 | 143435997:143436124:143447271:143447378:143484464:143484529 | 143447271:143447378 | ENSG00000171045.10 | ENST00000518720.1 |
| 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 TSNARE1 |
| 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 |
| ENST00000524325 | 143365773 | 143365846 | Frame-shift |
| ENST00000524325 | 143399904 | 143399995 | Frame-shift |
| ENST00000524325 | 143427103 | 143427253 | 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 |
| ENST00000524325 | 143365773 | 143365846 | Frame-shift |
| ENST00000524325 | 143399904 | 143399995 | Frame-shift |
| ENST00000524325 | 143427103 | 143427253 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TSNARE1 |
| 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 |
| ENST00000524325 | 1977 | 513 | 143427103 | 143427253 | 265 | 414 | 29 | 79 |
| 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 |
| ENST00000524325 | 1977 | 513 | 143427103 | 143427253 | 265 | 414 | 29 | 79 |
| 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 |
| Q96NA8 | 29 | 79 | 1 | 513 | Chain | ID=PRO_0000065668;Note=t-SNARE domain-containing protein 1 |
| Q96NA8 | 29 | 79 | 55 | 55 | Natural variant | ID=VAR_051461;Note=R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14702039;Dbxref=dbSNP:rs33970858,PMID:14702039 |
| 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 |
| Q96NA8 | 29 | 79 | 1 | 513 | Chain | ID=PRO_0000065668;Note=t-SNARE domain-containing protein 1 |
| Q96NA8 | 29 | 79 | 55 | 55 | Natural variant | ID=VAR_051461;Note=R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14702039;Dbxref=dbSNP:rs33970858,PMID:14702039 |
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SNVs in the skipped exons for TSNARE1 |
| - 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 |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_493047 exon_skip_493048 | 143356142 | 143356224 | 143356162 | 143356162 | Frame_Shift_Del | C | - | p.A257fs |
| LGG | TCGA-DU-7006-01 | exon_skip_493089 | 143427104 | 143427253 | 143427185 | 143427185 | Nonsense_Mutation | G | A | p.Q53* |
| LGG | TCGA-DU-7006-01 | exon_skip_493089 | 143427104 | 143427253 | 143427185 | 143427185 | Nonsense_Mutation | G | A | p.Q53X |
| CHOL | TCGA-W5-AA2O-01 | exon_skip_493088 exon_skip_493096 | 143435998 | 143436124 | 143436077 | 143436077 | Nonsense_Mutation | G | T | p.Y3X |
| - 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 |
| HEC59_ENDOMETRIUM | 143356142 | 143356224 | 143356210 | 143356211 | Frame_Shift_Ins | - | G | p.S460fs |
| KYAE1_OESOPHAGUS | 143356142 | 143356224 | 143356149 | 143356149 | Missense_Mutation | C | T | p.R480Q |
| DU145_PROSTATE | 143356142 | 143356224 | 143356188 | 143356188 | Missense_Mutation | T | A | p.H467L |
| VMRCLCD_LUNG | 143399905 | 143399995 | 143399915 | 143399915 | Missense_Mutation | C | A | p.S325I |
| SKNFI_AUTONOMIC_GANGLIA | 143399905 | 143399995 | 143399953 | 143399953 | Missense_Mutation | G | T | p.S312R |
| HEC59_ENDOMETRIUM | 143427104 | 143427253 | 143427131 | 143427131 | Missense_Mutation | G | A | p.P71S |
| COLO792_SKIN | 143427104 | 143427253 | 143427211 | 143427211 | Missense_Mutation | G | A | p.P44L |
| BICR78_UPPER_AERODIGESTIVE_TRACT | 143427104 | 143427253 | 143427236 | 143427236 | Missense_Mutation | T | C | p.T36A |
| OVKATE_OVARY | 143435998 | 143436124 | 143436049 | 143436049 | Missense_Mutation | C | T | p.G13R |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 143435998 | 143436124 | 143436076 | 143436076 | Missense_Mutation | C | T | p.G4R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TSNARE1 |
| 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 |
| exon_skip_493089 | 8 | 143425713:143425833:143427103:143427253:143435997:143436119 | 143427103:143427253 | ENST00000524325.1,ENST00000520462.1,ENST00000518720.1,ENST00000307180.3,ENST00000520166.1 | LGG | rs33970858 | chr8:143427178 | C/G | 1.53e-04 |
| exon_skip_493089 | 8 | 143425713:143425833:143427103:143427253:143435997:143436119 | 143427103:143427253 | ENST00000524325.1,ENST00000520462.1,ENST00000518720.1,ENST00000307180.3,ENST00000520166.1 | LUSC | rs33970858 | chr8:143427178 | C/G | 1.88e-03 |
| exon_skip_493088 | 8 | 143413114:143413192:143435997:143436124:143484464:143484529 | 143435997:143436124 | ENST00000519651.1 | LGG | rs7814359 | chr8:143436034 | A/G | 1.26e-04 |
| exon_skip_493088 | 8 | 143413114:143413192:143435997:143436124:143484464:143484529 | 143435997:143436124 | ENST00000519651.1 | LUSC | rs7814359 | chr8:143436034 | A/G | 1.96e-03 |
| exon_skip_493096 | 8 | 143427103:143427253:143435997:143436124:143484464:143484529 | 143435997:143436124 | ENST00000307180.3 | LGG | rs7814359 | chr8:143436034 | A/G | 1.26e-04 |
| exon_skip_493096 | 8 | 143427103:143427253:143435997:143436124:143484464:143484529 | 143435997:143436124 | ENST00000307180.3 | LUSC | rs7814359 | chr8:143436034 | A/G | 1.96e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TSNARE1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TSNARE1 |
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RelatedDrugs for TSNARE1 |
| 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 TSNARE1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TSNARE1 | C0036341 | Schizophrenia | 1 | PSYGENET |
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