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Fusion gene ID: 14043 |
FusionGeneSummary for FTL_SUMO3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: FTL_SUMO3 | Fusion gene ID: 14043 | Hgene | Tgene | Gene symbol | FTL | SUMO3 | Gene ID | 2512 | 6613 |
| Gene name | ferritin light chain | small ubiquitin-like modifier 2 | |
| Synonyms | LFTD|NBIA3 | HSMT3|SMT3B|SMT3H2|SUMO3|Smt3A | |
| Cytomap | 19q13.33 | 17q25.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ferritin light chainferritin L subunitferritin L-chainferritin light polypeptide-like 3ferritin, light polypeptide | small ubiquitin-related modifier 2SMT3 homolog 2SMT3 suppressor of mif two 3 homolog 2sentrin 2ubiquitin-like protein SMT3Aubiquitin-like protein SMT3B | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P02792 | P55854 | |
| Ensembl transtripts involved in fusion gene | ENST00000331825, | ENST00000397898, ENST00000332859, ENST00000479153, ENST00000411651, ENST00000397893, | |
| Fusion gene scores | * DoF score | 13 X 16 X 4=832 | 5 X 5 X 2=50 |
| # samples | 17 | 5 | |
| ** MAII score | log2(17/832*10)=-2.29104878200339 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/50*10)=0 | |
| Context | PubMed: FTL [Title/Abstract] AND SUMO3 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Tgene | SUMO3 | GO:0016925 | protein sumoylation | 17081986|17696781|21965678|24105744 |
| Tgene | SUMO3 | GO:0032436 | positive regulation of proteasomal ubiquitin-dependent protein catabolic process | 18408734 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | CA448614 | FTL | chr19 | 49469908 | - | SUMO3 | chr21 | 46226193 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| 5CDS-3UTR | ENST00000331825 | ENST00000397898 | FTL | chr19 | 49469908 | - | SUMO3 | chr21 | 46226193 | + |
| 5CDS-3UTR | ENST00000331825 | ENST00000332859 | FTL | chr19 | 49469908 | - | SUMO3 | chr21 | 46226193 | + |
| 5CDS-5UTR | ENST00000331825 | ENST00000479153 | FTL | chr19 | 49469908 | - | SUMO3 | chr21 | 46226193 | + |
| 5CDS-intron | ENST00000331825 | ENST00000411651 | FTL | chr19 | 49469908 | - | SUMO3 | chr21 | 46226193 | + |
| 5CDS-intron | ENST00000331825 | ENST00000397893 | FTL | chr19 | 49469908 | - | SUMO3 | chr21 | 46226193 | + |
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FusionProtFeatures for FTL_SUMO3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| FTL | SUMO3 |
| Ubiquitin-like protein which can be covalently attachedto target lysines either as a monomer or as a lysine-linkedpolymer. Does not seem to be involved in protein degradation andmay function as an antagonist of ubiquitin in the degradationprocess. Plays a role in a number of cellular processes such asnuclear transport, DNA replication and repair, mitosis and signaltransduction. Covalent attachment to its substrates requires prioractivation by the E1 complex SAE1-SAE2 and linkage to the E2enzyme UBE2I, and can be promoted by an E3 ligase such as PIAS1-4,RANBP2 or CBX4 (PubMed:11451954, PubMed:18538659,PubMed:21965678). Plays a role in the regulation of sumoylationstatus of SETX (PubMed:24105744). {ECO:0000269|PubMed:11451954,ECO:0000269|PubMed:18538659, ECO:0000269|PubMed:21965678}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for FTL_SUMO3 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for FTL_SUMO3 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for FTL_SUMO3 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for FTL_SUMO3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | FTL | C0011581 | Depressive disorder | 1 | CTD_human |
| Hgene | FTL | C0012715 | Iron Metabolism Disorders | 1 | CTD_human |
| Hgene | FTL | C0022548 | Keloid | 1 | CTD_human |
| Hgene | FTL | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
| Hgene | FTL | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Hgene | FTL | C0028754 | Obesity | 1 | CTD_human |
| Hgene | FTL | C0029408 | Degenerative polyarthritis | 1 | CTD_human |
| Hgene | FTL | C0033975 | Psychotic Disorders | 1 | PSYGENET |
| Hgene | FTL | C0349204 | Nonorganic psychosis | 1 | PSYGENET |
| Hgene | FTL | C0751870 | Heredodegenerative Disorders, Nervous System | 1 | CTD_human |
| Hgene | FTL | C1833213 | Hyperferritinemia, hereditary, with congenital cataracts | 1 | CTD_human;ORPHANET;UNIPROT |
| Hgene | FTL | C1853578 | Neuroferritinopathy | 1 | CTD_human;ORPHANET;UNIPROT |
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