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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 TWSG1 |
 Gene summary |
| Gene information | Gene symbol | TWSG1 | Gene ID | 57045 |
| Gene name | twisted gastrulation BMP signaling modulator 1 | |
| Synonyms | TSG | |
| Cytomap | 18p11.22 | |
| Type of gene | protein-coding | |
| Description | twisted gastrulation protein homolog 1twisted gastrulation homolog 1 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9GZX9 | |
| Context | PubMed: TWSG1 [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 |
| TWSG1 | GO:0001818 | negative regulation of cytokine production | 17164348 |
| TWSG1 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 17164348 |
| TWSG1 | GO:0010862 | positive regulation of pathway-restricted SMAD protein phosphorylation | 17164348 |
| TWSG1 | GO:2000515 | negative regulation of CD4-positive, alpha-beta T cell activation | 17164348 |
| TWSG1 | GO:2000562 | negative regulation of CD4-positive, alpha-beta T cell proliferation | 17164348 |
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Exon skipping events across known transcript of Ensembl for TWSG1 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 TWSG1 |
| 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 TWSG1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_295590 | 18 | 9334847:9334918:9337190:9337350:9359969:9360069 | 9337190:9337350 | ENSG00000128791.7 | ENST00000262120.5,ENST00000581641.1 |
| exon_skip_295595 | 18 | 9337190:9337350:9359969:9360069:9396277:9396544 | 9359969:9360069 | ENSG00000128791.7 | ENST00000262120.5,ENST00000581641.1 |
| exon_skip_295601 | 18 | 9359969:9360069:9396277:9396544:9399343:9400815 | 9396277:9396544 | ENSG00000128791.7 | ENST00000262120.5 |
| exon_skip_295606 | 18 | 9388037:9388138:9388361:9388418:9396277:9396544 | 9388361:9388418 | ENSG00000128791.7 | ENST00000583147.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TWSG1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_295590 | 18 | 9334847:9334918:9337190:9337350:9359969:9360069 | 9337190:9337350 | ENSG00000128791.7 | ENST00000262120.5,ENST00000581641.1 |
| exon_skip_295595 | 18 | 9337190:9337350:9359969:9360069:9396277:9396544 | 9359969:9360069 | ENSG00000128791.7 | ENST00000262120.5,ENST00000581641.1 |
| exon_skip_295601 | 18 | 9359969:9360069:9396277:9396544:9399343:9400815 | 9396277:9396544 | ENSG00000128791.7 | ENST00000262120.5 |
| exon_skip_295606 | 18 | 9388037:9388138:9388361:9388418:9396277:9396544 | 9388361:9388418 | ENSG00000128791.7 | ENST00000583147.1 |
| 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 TWSG1 |
| 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 |
| ENST00000262120 | 9337190 | 9337350 | 5CDS-5UTR |
| ENST00000262120 | 9359969 | 9360069 | Frame-shift |
| ENST00000262120 | 9396277 | 9396544 | 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 |
| ENST00000262120 | 9337190 | 9337350 | 5CDS-5UTR |
| ENST00000262120 | 9359969 | 9360069 | Frame-shift |
| ENST00000262120 | 9396277 | 9396544 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TWSG1 |
| 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 |
| ENST00000262120 | 3773 | 223 | 9396277 | 9396544 | 415 | 681 | 74 | 163 |
| 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 |
| ENST00000262120 | 3773 | 223 | 9396277 | 9396544 | 415 | 681 | 74 | 163 |
| 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 |
| Q9GZX9 | 74 | 163 | 75 | 75 | Alternative sequence | ID=VSP_042538;Note=In isoform 2. G->D;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9GZX9 | 74 | 163 | 76 | 223 | Alternative sequence | ID=VSP_042539;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9GZX9 | 74 | 163 | 26 | 223 | Chain | ID=PRO_0000278808;Note=Twisted gastrulation protein homolog 1 |
| Q9GZX9 | 74 | 163 | 26 | 77 | Compositional bias | Note=Cys-rich |
| Q9GZX9 | 74 | 163 | 81 | 81 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q9GZX9 | 74 | 163 | 75 | 75 | Alternative sequence | ID=VSP_042538;Note=In isoform 2. G->D;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9GZX9 | 74 | 163 | 76 | 223 | Alternative sequence | ID=VSP_042539;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9GZX9 | 74 | 163 | 26 | 223 | Chain | ID=PRO_0000278808;Note=Twisted gastrulation protein homolog 1 |
| Q9GZX9 | 74 | 163 | 26 | 77 | Compositional bias | Note=Cys-rich |
| Q9GZX9 | 74 | 163 | 81 | 81 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for TWSG1 |
| - 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-G3-A3CJ-01 | exon_skip_295601 | 9396278 | 9396544 | 9396321 | 9396321 | Frame_Shift_Del | A | - | p.S89fs |
| OV | TCGA-20-0991-01 | exon_skip_295601 | 9396278 | 9396544 | 9396353 | 9396368 | Frame_Shift_Del | TCCCTTCTCTCTTCCG | - | p.I100fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_295601 | 9396278 | 9396544 | 9396410 | 9396410 | Frame_Shift_Del | T | - | p.V119fs |
| LGG | TCGA-DH-A66D-01 | exon_skip_295590 | 9337191 | 9337350 | 9337233 | 9337234 | Frame_Shift_Ins | - | T | p.T3fs |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_295601 | 9396278 | 9396544 | 9396292 | 9396292 | Nonsense_Mutation | C | T | p.R80* |
| HNSC | TCGA-CV-A45U-01 | exon_skip_295601 | 9396278 | 9396544 | 9396466 | 9396466 | Nonsense_Mutation | G | T | p.E138* |
| - 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 |
| BHT101_THYROID | 9337191 | 9337350 | 9337231 | 9337231 | Missense_Mutation | A | G | p.K2E |
| LS180_LARGE_INTESTINE | 9359970 | 9360069 | 9360013 | 9360013 | Missense_Mutation | G | T | p.C56F |
| SNU1040_LARGE_INTESTINE | 9359970 | 9360069 | 9360027 | 9360027 | Missense_Mutation | C | A | p.L61M |
| WM88_SKIN | 9396278 | 9396544 | 9396421 | 9396421 | Missense_Mutation | G | C | p.V123L |
| HCC78_LUNG | 9396278 | 9396544 | 9396447 | 9396447 | Missense_Mutation | G | C | p.E131D |
| JHOC5_OVARY | 9396278 | 9396544 | 9396512 | 9396512 | Missense_Mutation | A | G | p.N153S |
| HEC251_ENDOMETRIUM | 9359970 | 9360069 | 9360056 | 9360056 | Nonsense_Mutation | C | A | p.C70* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TWSG1 |
| 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 TWSG1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TWSG1 |
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RelatedDrugs for TWSG1 |
| 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 TWSG1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TWSG1 | C0022360 | Jaw Abnormalities | 1 | CTD_human |
| TWSG1 | C0079541 | Holoprosencephaly | 1 | CTD_human |
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