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Fusion gene ID: 31040 |
FusionGeneSummary for RFTN1_TMEM40 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RFTN1_TMEM40 | Fusion gene ID: 31040 | Hgene | Tgene | Gene symbol | RFTN1 | TMEM40 | Gene ID | 23180 | 55287 |
| Gene name | raftlin, lipid raft linker 1 | transmembrane protein 40 | |
| Synonyms | MIG2|PIB10|PIG9|RAFTLIN | - | |
| Cytomap | 3p24.3 | 3p25.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | raftlincell migration-inducing gene 2 proteinproliferation-inducing protein 10proliferation-inducing protein 9raft-linking protein | transmembrane protein 40 | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q14699 | Q8WWA1 | |
| Ensembl transtripts involved in fusion gene | ENST00000432519, ENST00000334133, ENST00000483671, | ENST00000314124, ENST00000435575, ENST00000435218, ENST00000476331, ENST00000431022, ENST00000264728, | |
| Fusion gene scores | * DoF score | 5 X 6 X 5=150 | 5 X 3 X 8=120 |
| # samples | 8 | 9 | |
| ** MAII score | log2(8/150*10)=-0.906890595608519 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/120*10)=-0.415037499278844 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: RFTN1 [Title/Abstract] AND TMEM40 [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 |
| 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 |
| TCGA | RV | BLCA | TCGA-E7-A7DV-01A | RFTN1 | chr3 | 16554949 | - | TMEM40 | chr3 | 12791339 | - |
| * 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 |
| intron-5UTR | ENST00000432519 | ENST00000314124 | RFTN1 | chr3 | 16554949 | - | TMEM40 | chr3 | 12791339 | - |
| intron-5UTR | ENST00000432519 | ENST00000435575 | RFTN1 | chr3 | 16554949 | - | TMEM40 | chr3 | 12791339 | - |
| intron-5UTR | ENST00000432519 | ENST00000435218 | RFTN1 | chr3 | 16554949 | - | TMEM40 | chr3 | 12791339 | - |
| intron-intron | ENST00000432519 | ENST00000476331 | RFTN1 | chr3 | 16554949 | - | TMEM40 | chr3 | 12791339 | - |
| intron-intron | ENST00000432519 | ENST00000431022 | RFTN1 | chr3 | 16554949 | - | TMEM40 | chr3 | 12791339 | - |
| intron-5UTR | ENST00000432519 | ENST00000264728 | RFTN1 | chr3 | 16554949 | - | TMEM40 | chr3 | 12791339 | - |
| 5UTR-5UTR | ENST00000334133 | ENST00000314124 | RFTN1 | chr3 | 16554949 | - | TMEM40 | chr3 | 12791339 | - |
| 5UTR-5UTR | ENST00000334133 | ENST00000435575 | RFTN1 | chr3 | 16554949 | - | TMEM40 | chr3 | 12791339 | - |
| 5UTR-5UTR | ENST00000334133 | ENST00000435218 | RFTN1 | chr3 | 16554949 | - | TMEM40 | chr3 | 12791339 | - |
| 5UTR-intron | ENST00000334133 | ENST00000476331 | RFTN1 | chr3 | 16554949 | - | TMEM40 | chr3 | 12791339 | - |
| 5UTR-intron | ENST00000334133 | ENST00000431022 | RFTN1 | chr3 | 16554949 | - | TMEM40 | chr3 | 12791339 | - |
| 5UTR-5UTR | ENST00000334133 | ENST00000264728 | RFTN1 | chr3 | 16554949 | - | TMEM40 | chr3 | 12791339 | - |
| intron-5UTR | ENST00000483671 | ENST00000314124 | RFTN1 | chr3 | 16554949 | - | TMEM40 | chr3 | 12791339 | - |
| intron-5UTR | ENST00000483671 | ENST00000435575 | RFTN1 | chr3 | 16554949 | - | TMEM40 | chr3 | 12791339 | - |
| intron-5UTR | ENST00000483671 | ENST00000435218 | RFTN1 | chr3 | 16554949 | - | TMEM40 | chr3 | 12791339 | - |
| intron-intron | ENST00000483671 | ENST00000476331 | RFTN1 | chr3 | 16554949 | - | TMEM40 | chr3 | 12791339 | - |
| intron-intron | ENST00000483671 | ENST00000431022 | RFTN1 | chr3 | 16554949 | - | TMEM40 | chr3 | 12791339 | - |
| intron-5UTR | ENST00000483671 | ENST00000264728 | RFTN1 | chr3 | 16554949 | - | TMEM40 | chr3 | 12791339 | - |
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FusionProtFeatures for RFTN1_TMEM40 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RFTN1 | TMEM40 |
| Involved in protein trafficking via association withclathrin and AP2 complex (PubMed:27022195, PubMed:21266579). Uponbacterial lipopolysaccharide stimulation, mediates internalizationof TLR4 to endosomes in dendritic cells and macrophages; andinternalization of poly(I:C) to TLR3-positive endosomes in myeloiddendritic cells and epithelial cells; resulting in activation ofTICAM1-mediated signaling and subsequent IFNB1 production(PubMed:27022195, PubMed:21266579). Involved in T-cell antigenreceptor-mediated signaling by regulating tyrosine kinase LCKlocalization, T-cell dependent antibody production and cytokinesecretion (By similarity). May regulate B-cell antigen receptor-mediated signaling (PubMed:12805216). May play a pivotal role inthe formation and/or maintenance of lipid rafts (PubMed:12805216).{ECO:0000250|UniProtKB:Q6A0D4, ECO:0000269|PubMed:12805216,ECO:0000269|PubMed:21266579, ECO:0000269|PubMed:27022195}. |
| 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 RFTN1_TMEM40 |
| 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 RFTN1_TMEM40 |
| 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 |
| RFTN1 | SLC25A41, UNC119, MUS81, PTEN, CTDSPL, RABGAP1L, TGM5, ATG2A, SDC1, GJB7 | TMEM40 | CDK15 |
| - 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 RFTN1_TMEM40 |
| 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 RFTN1_TMEM40 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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