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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 FLI1 |
 Gene summary |
| Gene information | Gene symbol | FLI1 | Gene ID | 2313 |
| Gene name | Fli-1 proto-oncogene, ETS transcription factor | |
| Synonyms | BDPLT21|EWSR2|SIC-1 | |
| Cytomap | 11q24.3 | |
| Type of gene | protein-coding | |
| Description | Friend leukemia integration 1 transcription factorEwing sarcoma breakpoint region 2Friend leukemia virus integration 1transcription factor ERGB | |
| Modification date | 20180527 | |
| UniProtAcc | Q01543 | |
| Context | PubMed: FLI1 [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 |
| FLI1 | GO:0045893 | positive regulation of transcription, DNA-templated | 26316623 |
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Exon skipping events across known transcript of Ensembl for FLI1 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 FLI1 |
| 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 FLI1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_66682 | 11 | 128563986:128564171:128618131:128618185:128628009:128628221 | 128618131:128618185 | ENSG00000151702.12 | ENST00000534087.2 |
| exon_skip_66683 | 11 | 128628009:128628221:128634545:128634716:128638012:128638167 | 128634545:128634716 | ENSG00000151702.12 | ENST00000429175.3 |
| exon_skip_66685 | 11 | 128638012:128638167:128642676:128642880:128651852:128651918 | 128642676:128642880 | ENSG00000151702.12 | ENST00000534087.2,ENST00000344954.6,ENST00000281428.8,ENST00000429175.3,ENST00000527786.2 |
| exon_skip_66687 | 11 | 128651852:128651918:128675260:128675326:128677074:128677134 | 128675260:128675326 | ENSG00000151702.12 | ENST00000534087.2,ENST00000344954.6,ENST00000281428.8,ENST00000429175.3,ENST00000525560.1,ENST00000608303.1,ENST00000527786.2 |
| exon_skip_66691 | 11 | 128675260:128675326:128677074:128677134:128679051:128679099 | 128677074:128677134 | ENSG00000151702.12 | ENST00000534087.2,ENST00000344954.6,ENST00000281428.8,ENST00000429175.3,ENST00000525560.1,ENST00000608303.1,ENST00000527786.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FLI1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_66682 | 11 | 128563986:128564171:128618131:128618185:128628009:128628221 | 128618131:128618185 | ENSG00000151702.12 | ENST00000534087.2 |
| exon_skip_66683 | 11 | 128628009:128628221:128634545:128634716:128638012:128638167 | 128634545:128634716 | ENSG00000151702.12 | ENST00000429175.3 |
| exon_skip_66685 | 11 | 128638012:128638167:128642676:128642880:128651852:128651918 | 128642676:128642880 | ENSG00000151702.12 | ENST00000344954.6,ENST00000527786.2,ENST00000429175.3,ENST00000534087.2,ENST00000281428.8 |
| exon_skip_66687 | 11 | 128651852:128651918:128675260:128675326:128677074:128677134 | 128675260:128675326 | ENSG00000151702.12 | ENST00000608303.1,ENST00000525560.1,ENST00000344954.6,ENST00000527786.2,ENST00000429175.3,ENST00000534087.2,ENST00000281428.8 |
| exon_skip_66691 | 11 | 128675260:128675326:128677074:128677134:128679051:128679099 | 128677074:128677134 | ENSG00000151702.12 | ENST00000608303.1,ENST00000525560.1,ENST00000344954.6,ENST00000527786.2,ENST00000429175.3,ENST00000534087.2,ENST00000281428.8 |
| 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 FLI1 |
| 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 |
| ENST00000527786 | 128642676 | 128642880 | In-frame |
| ENST00000527786 | 128675260 | 128675326 | In-frame |
| ENST00000527786 | 128677074 | 128677134 | 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 |
| ENST00000527786 | 128642676 | 128642880 | In-frame |
| ENST00000527786 | 128675260 | 128675326 | In-frame |
| ENST00000527786 | 128677074 | 128677134 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FLI1 |
| 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 |
| ENST00000527786 | 4144 | 452 | 128642676 | 128642880 | 875 | 1078 | 128 | 196 |
| ENST00000527786 | 4144 | 452 | 128675260 | 128675326 | 1145 | 1210 | 218 | 240 |
| ENST00000527786 | 4144 | 452 | 128677074 | 128677134 | 1211 | 1270 | 240 | 260 |
| 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 |
| ENST00000527786 | 4144 | 452 | 128642676 | 128642880 | 875 | 1078 | 128 | 196 |
| ENST00000527786 | 4144 | 452 | 128675260 | 128675326 | 1145 | 1210 | 218 | 240 |
| ENST00000527786 | 4144 | 452 | 128677074 | 128677134 | 1211 | 1270 | 240 | 260 |
| 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 |
| Q01543 | 128 | 196 | 1 | 197 | Alternative sequence | ID=VSP_046943;Note=In isoform 4. MDGTIKEALSVVSDDQSLFDSAYGAAAHLPKADMTASGSPDYGQPHKINPLPPQQEWINQPVRVNVKREYDHMNGSRESPVDCSVSKCSKLVGGGESNPMNYNSYMDEKNGPPPPNMTTNERRVIVPADPTLWTQEHVRQWLEWAIKEYSLMEIDTSFFQNMDGKELCKMNKEDFLRATTLYNTEVLLSHLSYLRES->MDPG;Ontology_term=ECO: |
| Q01543 | 128 | 196 | 1 | 452 | Chain | ID=PRO_0000204124;Note=Friend leukemia integration 1 transcription factor |
| Q01543 | 128 | 196 | 112 | 198 | Domain | Note=PNT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00762 |
| Q01543 | 128 | 196 | 130 | 132 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X66 |
| Q01543 | 128 | 196 | 137 | 148 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X66 |
| Q01543 | 128 | 196 | 156 | 159 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X66 |
| Q01543 | 128 | 196 | 164 | 169 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X66 |
| Q01543 | 128 | 196 | 172 | 176 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X66 |
| Q01543 | 128 | 196 | 181 | 195 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X66 |
| Q01543 | 128 | 196 | 130 | 130 | Sequence conflict | Note=P->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q01543 | 128 | 196 | 130 | 130 | Sequence conflict | Note=P->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q01543 | 128 | 196 | 133 | 133 | Sequence conflict | Note=W->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q01543 | 128 | 196 | 133 | 133 | Sequence conflict | Note=W->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q01543 | 218 | 240 | 1 | 452 | Chain | ID=PRO_0000204124;Note=Friend leukemia integration 1 transcription factor |
| Q01543 | 240 | 260 | 1 | 452 | Chain | ID=PRO_0000204124;Note=Friend leukemia integration 1 transcription factor |
| 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 |
| Q01543 | 128 | 196 | 1 | 197 | Alternative sequence | ID=VSP_046943;Note=In isoform 4. MDGTIKEALSVVSDDQSLFDSAYGAAAHLPKADMTASGSPDYGQPHKINPLPPQQEWINQPVRVNVKREYDHMNGSRESPVDCSVSKCSKLVGGGESNPMNYNSYMDEKNGPPPPNMTTNERRVIVPADPTLWTQEHVRQWLEWAIKEYSLMEIDTSFFQNMDGKELCKMNKEDFLRATTLYNTEVLLSHLSYLRES->MDPG;Ontology_term=ECO: |
| Q01543 | 128 | 196 | 1 | 452 | Chain | ID=PRO_0000204124;Note=Friend leukemia integration 1 transcription factor |
| Q01543 | 128 | 196 | 112 | 198 | Domain | Note=PNT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00762 |
| Q01543 | 128 | 196 | 130 | 132 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X66 |
| Q01543 | 128 | 196 | 137 | 148 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X66 |
| Q01543 | 128 | 196 | 156 | 159 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X66 |
| Q01543 | 128 | 196 | 164 | 169 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X66 |
| Q01543 | 128 | 196 | 172 | 176 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X66 |
| Q01543 | 128 | 196 | 181 | 195 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X66 |
| Q01543 | 128 | 196 | 130 | 130 | Sequence conflict | Note=P->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q01543 | 128 | 196 | 130 | 130 | Sequence conflict | Note=P->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q01543 | 128 | 196 | 133 | 133 | Sequence conflict | Note=W->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q01543 | 128 | 196 | 133 | 133 | Sequence conflict | Note=W->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q01543 | 218 | 240 | 1 | 452 | Chain | ID=PRO_0000204124;Note=Friend leukemia integration 1 transcription factor |
| Q01543 | 240 | 260 | 1 | 452 | Chain | ID=PRO_0000204124;Note=Friend leukemia integration 1 transcription factor |
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SNVs in the skipped exons for FLI1 |
| - 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_66687 | 128675261 | 128675326 | 128675294 | 128675294 | Frame_Shift_Del | G | - | p.W197fs |
| UCEC | TCGA-AP-A05N-01 | exon_skip_66687 | 128675261 | 128675326 | 128675260 | 128675260 | Splice_Site | G | T | p.D219_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 |
| MOGGUVW_CENTRAL_NERVOUS_SYSTEM | 128642677 | 128642880 | 128642817 | 128642817 | Missense_Mutation | C | A | p.L176I |
| HCC1195_LUNG | 128677075 | 128677134 | 128677101 | 128677101 | Missense_Mutation | A | T | p.I250F |
| HEC108_ENDOMETRIUM | 128642677 | 128642880 | 128642877 | 128642877 | Nonsense_Mutation | G | T | p.E196* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FLI1 |
| 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 FLI1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FLI1 |
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RelatedDrugs for FLI1 |
| 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 FLI1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| FLI1 | C0553580 | Ewings sarcoma | 3 | CTD_human;ORPHANET |
| FLI1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| FLI1 | C0025149 | Medulloblastoma | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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