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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 TFPT |
Gene summary |
| Gene information | Gene symbol | TFPT | Gene ID | 29844 |
| Gene name | TCF3 fusion partner | |
| Synonyms | FB1|INO80F|amida | |
| Cytomap | 19q13.42 | |
| Type of gene | protein-coding | |
| Description | TCF3 fusion partnerINO80 complex subunit FTCF3 (E2A) fusion partner (in childhood Leukemia)amida, partner of the E2A | |
| Modification date | 20180523 | |
| UniProtAcc | P0C1Z6 | |
| Context | PubMed: TFPT [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 |
| TFPT | GO:0097190 | apoptotic signaling pathway | 17041757 |
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Exon skipping events across known transcript of Ensembl for TFPT 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 TFPT |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for TFPT |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_322152 | 19 | 54611332:54611551:54611632:54611702:54617821:54618080 | 54611632:54611702 | ENSG00000105619.9 | ENST00000420715.2 |
| exon_skip_322158 | 19 | 54611632:54611702:54613433:54613504:54617821:54618080 | 54613433:54613504 | ENSG00000105619.9 | ENST00000391758.1,ENST00000391759.1,ENST00000391757.1 |
| exon_skip_322162 | 19 | 54611632:54611702:54617821:54618080:54618626:54618665 | 54617821:54618080 | ENSG00000105619.9 | ENST00000420715.2 |
| exon_skip_322169 | 19 | 54613433:54613504:54617821:54618080:54618626:54618665 | 54617821:54618080 | ENSG00000105619.9 | ENST00000391757.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TFPT |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_322152 | 19 | 54611332:54611551:54611632:54611702:54617821:54618080 | 54611632:54611702 | ENSG00000105619.9 | ENST00000420715.2 |
| exon_skip_322158 | 19 | 54611632:54611702:54613433:54613504:54617821:54618080 | 54613433:54613504 | ENSG00000105619.9 | ENST00000391759.1,ENST00000391758.1,ENST00000391757.1 |
| exon_skip_322162 | 19 | 54611632:54611702:54617821:54618080:54618626:54618665 | 54617821:54618080 | ENSG00000105619.9 | ENST00000420715.2 |
| exon_skip_322169 | 19 | 54613433:54613504:54617821:54618080:54618626:54618665 | 54617821:54618080 | ENSG00000105619.9 | ENST00000391757.1 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for TFPT |
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 |
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 |
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Infer the effects of exon skipping event on protein functional features for TFPT |
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 TFPT |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- 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 |
| READ | TCGA-AH-6644-01 | exon_skip_322169 exon_skip_322162 | 54617822 | 54618080 | 54618051 | 54618051 | Frame_Shift_Del | A | - | p.F18fs |
| ESCA | TCGA-LN-A4A6-01 | exon_skip_322169 exon_skip_322162 | 54617822 | 54618080 | 54617837 | 54617837 | Nonsense_Mutation | G | T | p.C89* |
- Depth of coverage in the three exons composing exon skipping event |
- 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 |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 54617822 | 54618080 | 54617929 | 54617929 | Frame_Shift_Del | C | - | p.E59fs |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 54617822 | 54618080 | 54617933 | 54617937 | Frame_Shift_Del | GAGCC | - | p.GL56fs |
| HCT116_LARGE_INTESTINE | 54617822 | 54618080 | 54617959 | 54617960 | Frame_Shift_Del | AC | - | p.S49fs |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 54617822 | 54618080 | 54617846 | 54617847 | Frame_Shift_Ins | - | C | p.G86fs |
| TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 54611633 | 54611702 | 54611674 | 54611674 | Missense_Mutation | C | T | p.G128R |
| GP2D_LARGE_INTESTINE | 54611633 | 54611702 | 54611694 | 54611694 | Missense_Mutation | A | G | p.M121T |
| GP5D_LARGE_INTESTINE | 54611633 | 54611702 | 54611694 | 54611694 | Missense_Mutation | A | G | p.M121T |
| HCT15_LARGE_INTESTINE | 54613434 | 54613504 | 54613443 | 54613443 | Missense_Mutation | T | C | p.Q115R |
| SNU1040_LARGE_INTESTINE | 54617822 | 54618080 | 54617841 | 54617841 | Missense_Mutation | C | T | p.R88H |
| SNU175_LARGE_INTESTINE | 54617822 | 54618080 | 54617842 | 54617842 | Missense_Mutation | G | A | p.R88C |
| IGROV1_OVARY | 54617822 | 54618080 | 54617845 | 54617845 | Missense_Mutation | G | A | p.R87W |
| SNU1040_LARGE_INTESTINE | 54617822 | 54618080 | 54617868 | 54617868 | Missense_Mutation | C | T | p.R79H |
| SNU407_LARGE_INTESTINE | 54617822 | 54618080 | 54617881 | 54617881 | Missense_Mutation | G | A | p.R75W |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 54617822 | 54618080 | 54617952 | 54617952 | Missense_Mutation | C | A | p.G51V |
| MC116_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 54617822 | 54618080 | 54618001 | 54618001 | Missense_Mutation | G | C | p.H35D |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 54617822 | 54618080 | 54618021 | 54618021 | Missense_Mutation | A | G | p.L28S |
| SLR24_KIDNEY | 54617822 | 54618080 | 54618045 | 54618045 | Missense_Mutation | G | T | p.A20E |
| SLR24_KIDNEY | 54617822 | 54618080 | 54618046 | 54618046 | Missense_Mutation | C | G | p.A20P |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TFPT |
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 TFPT |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TFPT |
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RelatedDrugs for TFPT |
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 TFPT |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |