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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 TFE3 |
 Gene summary |
| Gene information | Gene symbol | TFE3 | Gene ID | 7030 |
| Gene name | transcription factor binding to IGHM enhancer 3 | |
| Synonyms | RCCP2|RCCX1|TFEA|bHLHe33 | |
| Cytomap | Xp11.23 | |
| Type of gene | protein-coding | |
| Description | transcription factor E3class E basic helix-loop-helix protein 33transcription factor E family, member Atranscription factor for IgH enhancertranscription factor for immunoglobulin heavy-chain enhancer 3 | |
| Modification date | 20180527 | |
| UniProtAcc | P19532 | |
| Context | PubMed: TFE3 [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 TFE3 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 TFE3 |
| 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 TFE3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_514851 | X | 48888025:48888112:48888911:48889059:48890979:48891055 | 48888911:48889059 | ENSG00000068323.12 | ENST00000315869.7,ENST00000493583.1 |
| exon_skip_514855 | X | 48888911:48889059:48890979:48891055:48891240:48891297 | 48890979:48891055 | ENSG00000068323.12 | ENST00000315869.7,ENST00000493583.1,ENST00000487451.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TFE3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_514851 | X | 48888025:48888112:48888911:48889059:48890979:48891055 | 48888911:48889059 | ENSG00000068323.12 | ENST00000493583.1,ENST00000315869.7 |
| exon_skip_514855 | X | 48888911:48889059:48890979:48891055:48891240:48891297 | 48890979:48891055 | ENSG00000068323.12 | ENST00000493583.1,ENST00000315869.7,ENST00000487451.1 |
| 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 TFE3 |
| 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 |
| ENST00000315869 | 48888911 | 48889059 | Frame-shift |
| ENST00000315869 | 48890979 | 48891055 | 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 |
| ENST00000315869 | 48888911 | 48889059 | Frame-shift |
| ENST00000315869 | 48890979 | 48891055 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for TFE3 |
| 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 TFE3 |
| - 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. |
TFE3_KIRP_exon_skip_514851_psi_boxplot.png |
TFE3_SKCM_exon_skip_514851_psi_boxplot.png |
| - 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 |
| SKCM | TCGA-EE-A29L-06 | exon_skip_514851 | 48888912 | 48889059 | 48888962 | 48888980 | Frame_Shift_Del | GGCTCTCCAGGTCTTTGGA | - | p.SKDLESR406fs |
| KIRP | TCGA-P4-A5EA-01 | exon_skip_514851 | 48888912 | 48889059 | 48888986 | 48888986 | Nonsense_Mutation | G | A | p.Q404* |
| STAD | TCGA-BR-8487-01 | exon_skip_514855 | 48890980 | 48891055 | 48891041 | 48891041 | Nonsense_Mutation | G | A | p.R359* |
| STAD | TCGA-BR-8487-01 | exon_skip_514855 | 48890980 | 48891055 | 48891041 | 48891041 | Nonsense_Mutation | G | A | p.R359X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-EE-A29L-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_514851 | |
| Skipped exon start: 48888912 | |
| Skipped exon end: 48889059 | |
| Mutation start: 48888962 | |
| Mutation end: 48888980 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: GGCTCTCCAGGTCTTTGGA | |
| Mutation seq: - | |
| AAchange: p.SKDLESR406fs | |
exon_skip_514851_SKCM_TCGA-EE-A29L-06.png | |
| - 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 |
| EN_ENDOMETRIUM | 48888912 | 48889059 | 48888980 | 48888980 | Missense_Mutation | A | G | p.S406P |
| SNU719_STOMACH | 48890980 | 48891055 | 48890992 | 48890992 | Missense_Mutation | T | C | p.K375R |
| HCC2998_LARGE_INTESTINE | 48890980 | 48891055 | 48891026 | 48891026 | Missense_Mutation | C | T | p.D364N |
| RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48890980 | 48891055 | 48890980 | 48890980 | Splice_Site | G | A | p.P379L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TFE3 |
| 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 TFE3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TFE3 |
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RelatedDrugs for TFE3 |
| 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 TFE3 |
| 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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