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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 TDGF1 |
 Gene summary |
| Gene information | Gene symbol | TDGF1 | Gene ID | 6997 |
| Gene name | teratocarcinoma-derived growth factor 1 | |
| Synonyms | CR|CRGF|CRIPTO | |
| Cytomap | 3p21.31 | |
| Type of gene | protein-coding | |
| Description | teratocarcinoma-derived growth factor 1cripto-1 growth factorepidermal growth factor-like cripto protein CR1 | |
| Modification date | 20180523 | |
| UniProtAcc | P13385 | |
| Context | PubMed: TDGF1 [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 |
| TDGF1 | GO:0000187 | activation of MAPK activity | 9013573 |
| TDGF1 | GO:0007173 | epidermal growth factor receptor signaling pathway | 8006041 |
| TDGF1 | GO:0007507 | heart development | 9576836 |
| TDGF1 | GO:0008284 | positive regulation of cell proliferation | 8006041 |
| TDGF1 | GO:0009966 | regulation of signal transduction | 12649175 |
| TDGF1 | GO:0010595 | positive regulation of endothelial cell migration | 17720976 |
| TDGF1 | GO:0018105 | peptidyl-serine phosphorylation | 10493495 |
| TDGF1 | GO:0030335 | positive regulation of cell migration | 12649175 |
| TDGF1 | GO:0035729 | cellular response to hepatocyte growth factor stimulus | 17720976 |
| TDGF1 | GO:0043066 | negative regulation of apoptotic process | 10493495 |
| TDGF1 | GO:0044344 | cellular response to fibroblast growth factor stimulus | 17720976 |
| TDGF1 | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation | 10493495 |
| TDGF1 | GO:0071346 | cellular response to interferon-gamma | 17720976 |
| TDGF1 | GO:0071354 | cellular response to interleukin-6 | 17720976 |
| TDGF1 | GO:0071356 | cellular response to tumor necrosis factor | 17720976 |
| TDGF1 | GO:0071364 | cellular response to epidermal growth factor stimulus | 17720976 |
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Exon skipping events across known transcript of Ensembl for TDGF1 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 TDGF1 |
| 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 TDGF1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_373720 | 3 | 46619457:46619494:46620584:46620637:46620721:46620856 | 46620584:46620637 | ENSG00000241186.3 | ENST00000471721.1,ENST00000493282.1,ENST00000296145.5 |
| exon_skip_373725 | 3 | 46621228:46621343:46621440:46621550:46622621:46623950 | 46621440:46621550 | ENSG00000241186.3 | ENST00000542931.1,ENST00000296145.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TDGF1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_373720 | 3 | 46619457:46619494:46620584:46620637:46620721:46620856 | 46620584:46620637 | ENSG00000241186.3 | ENST00000296145.5,ENST00000493282.1,ENST00000471721.1 |
| exon_skip_373725 | 3 | 46621228:46621343:46621440:46621550:46622621:46623950 | 46621440:46621550 | ENSG00000241186.3 | ENST00000542931.1,ENST00000296145.5 |
| 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 TDGF1 |
| 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 |
| ENST00000296145 | 46620584 | 46620637 | Frame-shift |
| ENST00000296145 | 46621440 | 46621550 | Frame-shift |
| 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 |
| ENST00000296145 | 46620584 | 46620637 | Frame-shift |
| ENST00000296145 | 46621440 | 46621550 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for TDGF1 |
| 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 |
| 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 |
| 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 |
| 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 |
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SNVs in the skipped exons for TDGF1 |
| - 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_373725 | 46621441 | 46621550 | 46621457 | 46621457 | Frame_Shift_Del | C | - | p.P119fs |
| LUAD | TCGA-67-3771-01 | exon_skip_373720 | 46620585 | 46620637 | 46620584 | 46620584 | Splice_Site | G | C | p.S12_splice |
| - 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 |
| LS411N_LARGE_INTESTINE | 46620585 | 46620637 | 46620598 | 46620598 | Missense_Mutation | A | G | p.M17V |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46620585 | 46620637 | 46620598 | 46620598 | Missense_Mutation | A | G | p.M17V |
| HEC251_ENDOMETRIUM | 46620585 | 46620637 | 46620608 | 46620608 | Missense_Mutation | C | A | p.S20Y |
| MEWO_SKIN | 46621441 | 46621550 | 46621483 | 46621483 | Missense_Mutation | G | T | p.K127N |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46620585 | 46620637 | 46620637 | 46620637 | Splice_Site | G | A | p.G30R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TDGF1 |
| 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 TDGF1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TDGF1 |
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RelatedDrugs for TDGF1 |
| 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 TDGF1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TDGF1 | C0079541 | Holoprosencephaly | 1 | CTD_human |
| TDGF1 | C3178805 | Heterotaxy Syndrome | 1 | CTD_human |
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