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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 TFG |
 Gene summary |
| Gene information | Gene symbol | TFG | Gene ID | 10342 |
| Gene name | TRK-fused gene | |
| Synonyms | HMSNP|SPG57|TF6|TRKT3 | |
| Cytomap | 3q12.2 | |
| Type of gene | protein-coding | |
| Description | protein TFGTRK-fused gene proteinTRKT3 oncogene | |
| Modification date | 20180522 | |
| UniProtAcc | Q92734 | |
| Context | PubMed: TFG [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 TFG 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 TFG |
| 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 TFG |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_376275 | 3 | 100428221:100428275:100432486:100432713:100438818:100438902 | 100432486:100432713 | ENSG00000114354.8 | ENST00000490574.1 |
| exon_skip_376278 | 3 | 100428449:100428565:100429814:100429912:100432486:100432713 | 100429814:100429912 | ENSG00000114354.8 | ENST00000479672.1 |
| exon_skip_376280 | 3 | 100428449:100428565:100432486:100432713:100438818:100438902 | 100432486:100432713 | ENSG00000114354.8 | ENST00000476228.1,ENST00000240851.4 |
| exon_skip_376282 | 3 | 100432486:100432713:100438818:100438902:100447555:100447672 | 100438818:100438902 | ENSG00000114354.8 | ENST00000490574.1,ENST00000476228.1,ENST00000479672.1,ENST00000418917.2,ENST00000240851.4,ENST00000463568.1,ENST00000487505.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TFG |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_376275 | 3 | 100428221:100428275:100432486:100432713:100438818:100438902 | 100432486:100432713 | ENSG00000114354.8 | ENST00000490574.1 |
| exon_skip_376278 | 3 | 100428449:100428565:100429814:100429912:100432486:100432713 | 100429814:100429912 | ENSG00000114354.8 | ENST00000479672.1 |
| exon_skip_376280 | 3 | 100428449:100428565:100432486:100432713:100438818:100438902 | 100432486:100432713 | ENSG00000114354.8 | ENST00000240851.4,ENST00000476228.1 |
| exon_skip_376282 | 3 | 100432486:100432713:100438818:100438902:100447555:100447672 | 100438818:100438902 | ENSG00000114354.8 | ENST00000418917.2,ENST00000490574.1,ENST00000240851.4,ENST00000479672.1,ENST00000476228.1,ENST00000463568.1,ENST00000487505.1 |
| 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 TFG |
| 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 |
| ENST00000240851 | 100432486 | 100432713 | 5CDS-5UTR |
| ENST00000490574 | 100432486 | 100432713 | 5CDS-5UTR |
| ENST00000240851 | 100438818 | 100438902 | In-frame |
| ENST00000490574 | 100438818 | 100438902 | 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 |
| ENST00000240851 | 100432486 | 100432713 | 5CDS-5UTR |
| ENST00000490574 | 100432486 | 100432713 | 5CDS-5UTR |
| ENST00000240851 | 100438818 | 100438902 | In-frame |
| ENST00000490574 | 100438818 | 100438902 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TFG |
| 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 |
| ENST00000240851 | 1995 | 400 | 100438818 | 100438902 | 525 | 608 | 61 | 89 |
| ENST00000490574 | 1713 | 400 | 100438818 | 100438902 | 282 | 365 | 61 | 89 |
| 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 |
| ENST00000240851 | 1995 | 400 | 100438818 | 100438902 | 525 | 608 | 61 | 89 |
| ENST00000490574 | 1713 | 400 | 100438818 | 100438902 | 282 | 365 | 61 | 89 |
| 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 |
| Q92734 | 61 | 89 | 1 | 400 | Chain | ID=PRO_0000072500;Note=Protein TFG |
| Q92734 | 61 | 89 | 1 | 400 | Chain | ID=PRO_0000072500;Note=Protein TFG |
| Q92734 | 61 | 89 | 10 | 91 | Domain | Note=PB1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01081 |
| Q92734 | 61 | 89 | 10 | 91 | Domain | Note=PB1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01081 |
| 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 |
| Q92734 | 61 | 89 | 1 | 400 | Chain | ID=PRO_0000072500;Note=Protein TFG |
| Q92734 | 61 | 89 | 1 | 400 | Chain | ID=PRO_0000072500;Note=Protein TFG |
| Q92734 | 61 | 89 | 10 | 91 | Domain | Note=PB1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01081 |
| Q92734 | 61 | 89 | 10 | 91 | Domain | Note=PB1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01081 |
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SNVs in the skipped exons for TFG |
| - 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_376280 exon_skip_376275 | 100432487 | 100432713 | 100432598 | 100432598 | Frame_Shift_Del | A | - | p.R23fs |
| KIRC | TCGA-BP-4760-01 | exon_skip_376280 exon_skip_376275 | 100432487 | 100432713 | 100432611 | 100432611 | Frame_Shift_Del | A | - | p.N28fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_376280 exon_skip_376275 | 100432487 | 100432713 | 100432635 | 100432635 | Frame_Shift_Del | T | - | p.L36fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_376282 | 100438819 | 100438902 | 100438858 | 100438858 | Frame_Shift_Del | C | - | p.S75fs |
| BLCA | TCGA-DK-A3X1-01 | exon_skip_376280 exon_skip_376275 | 100432487 | 100432713 | 100432575 | 100432575 | Nonsense_Mutation | C | T | p.Q16* |
| BLCA | TCGA-DK-A6AW-01 | exon_skip_376280 exon_skip_376275 | 100432487 | 100432713 | 100432575 | 100432575 | Nonsense_Mutation | C | T | p.Q16* |
| UCEC | TCGA-AP-A059-01 | exon_skip_376280 exon_skip_376275 | 100432487 | 100432713 | 100432650 | 100432650 | Nonsense_Mutation | C | T | p.Q41* |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_376280 exon_skip_376275 | 100432487 | 100432713 | 100432653 | 100432653 | Nonsense_Mutation | C | T | p.R42* |
| - 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 |
| HT115_LARGE_INTESTINE | 100432487 | 100432713 | 100432597 | 100432597 | Missense_Mutation | G | A | p.R23Q |
| JHUEM7_ENDOMETRIUM | 100438819 | 100438902 | 100438836 | 100438836 | Missense_Mutation | A | C | p.I68L |
| NCIH2141_LUNG | 100438819 | 100438902 | 100438852 | 100438852 | Missense_Mutation | A | C | p.D73A |
| SNU1040_LARGE_INTESTINE | 100438819 | 100438902 | 100438863 | 100438863 | Missense_Mutation | G | A | p.A77T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TFG |
| 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 TFG |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TFG |
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RelatedDrugs for TFG |
| 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 TFG |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TFG | C1858338 | Neuropathy, hereditary motor and sensory, Okinawa type | 1 | ORPHANET;UNIPROT |
| TFG | C3714897 | SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE | 1 | ORPHANET;UNIPROT |
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