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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 TYW3 |
 Gene summary |
| Gene information | Gene symbol | TYW3 | Gene ID | 127253 |
| Gene name | tRNA-yW synthesizing protein 3 homolog | |
| Synonyms | C1orf171 | |
| Cytomap | 1p31.1 | |
| Type of gene | protein-coding | |
| Description | tRNA wybutosine-synthesizing protein 3 homologtRNA(Phe) 7-((3-amino-3-carboxypropyl)-4-demethylwyosine(37)-N(4))-methyltransferasetRNA-yW-synthesizing protein 3 | |
| Modification date | 20180523 | |
| UniProtAcc | Q6IPR3 | |
| Context | PubMed: TYW3 [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 TYW3 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 TYW3 |
| 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 TYW3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_7284 | 1 | 75198930:75199102:75199801:75199866:75202225:75202306 | 75199801:75199866 | ENSG00000162623.11 | ENST00000479111.1 |
| exon_skip_7285 | 1 | 75198930:75199102:75202225:75202306:75204373:75204472 | 75202225:75202306 | ENSG00000162623.11 | ENST00000370867.3 |
| exon_skip_7292 | 1 | 75202225:75202306:75204373:75204472:75214434:75214506 | 75204373:75204472 | ENSG00000162623.11 | ENST00000483990.1,ENST00000479111.1,ENST00000370867.3 |
| exon_skip_7295 | 1 | 75202225:75202306:75214434:75214506:75217975:75218059 | 75214434:75214506 | ENSG00000162623.11 | ENST00000457880.2 |
| exon_skip_7299 | 1 | 75204373:75204472:75214434:75214506:75217975:75218059 | 75214434:75214506 | ENSG00000162623.11 | ENST00000483990.1,ENST00000479111.1,ENST00000370867.3 |
| exon_skip_7303 | 1 | 75214434:75214506:75217975:75218109:75229577:75229673 | 75217975:75218109 | ENSG00000162623.11 | ENST00000479111.1,ENST00000457880.2,ENST00000370867.3 |
| exon_skip_7307 | 1 | 75217975:75218109:75227342:75227443:75229577:75229673 | 75227342:75227443 | ENSG00000162623.11 | ENST00000485401.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TYW3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_7284 | 1 | 75198930:75199102:75199801:75199866:75202225:75202306 | 75199801:75199866 | ENSG00000162623.11 | ENST00000479111.1 |
| exon_skip_7285 | 1 | 75198930:75199102:75202225:75202306:75204373:75204472 | 75202225:75202306 | ENSG00000162623.11 | ENST00000370867.3 |
| exon_skip_7292 | 1 | 75202225:75202306:75204373:75204472:75214434:75214506 | 75204373:75204472 | ENSG00000162623.11 | ENST00000370867.3,ENST00000479111.1,ENST00000483990.1 |
| exon_skip_7295 | 1 | 75202225:75202306:75214434:75214506:75217975:75218059 | 75214434:75214506 | ENSG00000162623.11 | ENST00000457880.2 |
| exon_skip_7299 | 1 | 75204373:75204472:75214434:75214506:75217975:75218059 | 75214434:75214506 | ENSG00000162623.11 | ENST00000370867.3,ENST00000479111.1,ENST00000483990.1 |
| exon_skip_7303 | 1 | 75214434:75214506:75217975:75218109:75229577:75229673 | 75217975:75218109 | ENSG00000162623.11 | ENST00000457880.2,ENST00000370867.3,ENST00000479111.1 |
| exon_skip_7307 | 1 | 75217975:75218109:75227342:75227443:75229577:75229673 | 75227342:75227443 | ENSG00000162623.11 | ENST00000485401.1 |
| 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 TYW3 |
| 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 |
| ENST00000370867 | 75217975 | 75218109 | Frame-shift |
| ENST00000370867 | 75202225 | 75202306 | In-frame |
| ENST00000370867 | 75204373 | 75204472 | In-frame |
| ENST00000370867 | 75214434 | 75214506 | 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 |
| ENST00000370867 | 75217975 | 75218109 | Frame-shift |
| ENST00000370867 | 75202225 | 75202306 | In-frame |
| ENST00000370867 | 75204373 | 75204472 | In-frame |
| ENST00000370867 | 75214434 | 75214506 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TYW3 |
| 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 |
| ENST00000370867 | 3447 | 259 | 75202225 | 75202306 | 264 | 344 | 58 | 85 |
| ENST00000370867 | 3447 | 259 | 75204373 | 75204472 | 345 | 443 | 85 | 118 |
| ENST00000370867 | 3447 | 259 | 75214434 | 75214506 | 444 | 515 | 118 | 142 |
| 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 |
| ENST00000370867 | 3447 | 259 | 75202225 | 75202306 | 264 | 344 | 58 | 85 |
| ENST00000370867 | 3447 | 259 | 75204373 | 75204472 | 345 | 443 | 85 | 118 |
| ENST00000370867 | 3447 | 259 | 75214434 | 75214506 | 444 | 515 | 118 | 142 |
| 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 |
| Q6IPR3 | 58 | 85 | 1 | 259 | Chain | ID=PRO_0000281842;Note=tRNA wybutosine-synthesizing protein 3 homolog |
| Q6IPR3 | 85 | 118 | 86 | 118 | Alternative sequence | ID=VSP_044477;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q6IPR3 | 85 | 118 | 1 | 259 | Chain | ID=PRO_0000281842;Note=tRNA wybutosine-synthesizing protein 3 homolog |
| Q6IPR3 | 85 | 118 | 110 | 110 | Natural variant | ID=VAR_031292;Note=R->Q;Dbxref=dbSNP:rs11538281 |
| Q6IPR3 | 118 | 142 | 86 | 118 | Alternative sequence | ID=VSP_044477;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q6IPR3 | 118 | 142 | 1 | 259 | Chain | ID=PRO_0000281842;Note=tRNA wybutosine-synthesizing protein 3 homolog |
| Q6IPR3 | 118 | 142 | 121 | 121 | Natural variant | ID=VAR_031293;Note=M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14702039;Dbxref=dbSNP:rs1133891,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 |
| Q6IPR3 | 58 | 85 | 1 | 259 | Chain | ID=PRO_0000281842;Note=tRNA wybutosine-synthesizing protein 3 homolog |
| Q6IPR3 | 85 | 118 | 86 | 118 | Alternative sequence | ID=VSP_044477;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q6IPR3 | 85 | 118 | 1 | 259 | Chain | ID=PRO_0000281842;Note=tRNA wybutosine-synthesizing protein 3 homolog |
| Q6IPR3 | 85 | 118 | 110 | 110 | Natural variant | ID=VAR_031292;Note=R->Q;Dbxref=dbSNP:rs11538281 |
| Q6IPR3 | 118 | 142 | 86 | 118 | Alternative sequence | ID=VSP_044477;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q6IPR3 | 118 | 142 | 1 | 259 | Chain | ID=PRO_0000281842;Note=tRNA wybutosine-synthesizing protein 3 homolog |
| Q6IPR3 | 118 | 142 | 121 | 121 | Natural variant | ID=VAR_031293;Note=M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14702039;Dbxref=dbSNP:rs1133891,PMID:14702039 |
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SNVs in the skipped exons for TYW3 |
| - 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-A39Y-01 | exon_skip_7292 | 75204374 | 75204472 | 75204425 | 75204425 | Frame_Shift_Del | T | - | p.F103fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_7299 exon_skip_7295 | 75214435 | 75214506 | 75214494 | 75214494 | Frame_Shift_Del | A | - | p.G138fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_7303 | 75217976 | 75218109 | 75218018 | 75218018 | Frame_Shift_Del | A | - | p.K157fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_7303 | 75217976 | 75218109 | 75218023 | 75218023 | Frame_Shift_Del | A | - | p.G158fs |
| READ | TCGA-EI-6507-01 | exon_skip_7303 | 75217976 | 75218109 | 75218076 | 75218076 | Frame_Shift_Del | A | - | p.Q176fs |
| PAAD | TCGA-IB-7651-01 | exon_skip_7292 | 75204374 | 75204472 | 75204373 | 75204373 | Splice_Site | G | A | . |
| - 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 |
| GP2D_LARGE_INTESTINE | 75217976 | 75218109 | 75218076 | 75218076 | Frame_Shift_Del | A | - | p.Q176fs |
| GP5D_LARGE_INTESTINE | 75217976 | 75218109 | 75218076 | 75218076 | Frame_Shift_Del | A | - | p.Q176fs |
| L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 75202226 | 75202306 | 75202274 | 75202274 | Missense_Mutation | G | C | p.V75L |
| OVK18_OVARY | 75204374 | 75204472 | 75204404 | 75204404 | Missense_Mutation | G | A | p.A96T |
| GP2D_LARGE_INTESTINE | 75204374 | 75204472 | 75204429 | 75204429 | Missense_Mutation | T | C | p.V104A |
| GP5D_LARGE_INTESTINE | 75204374 | 75204472 | 75204429 | 75204429 | Missense_Mutation | T | C | p.V104A |
| LNCAPCLONEFGC_PROSTATE | 75214435 | 75214506 | 75214499 | 75214499 | Missense_Mutation | C | T | p.T140I |
| HCC2998_LARGE_INTESTINE | 75217976 | 75218109 | 75218075 | 75218075 | Missense_Mutation | C | A | p.Q176K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TYW3 |
| 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 TYW3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TYW3 |
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RelatedDrugs for TYW3 |
| 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 TYW3 |
| 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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