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Fusion gene ID: 13125 |
FusionGeneSummary for FBXL4_CTTN |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: FBXL4_CTTN | Fusion gene ID: 13125 | Hgene | Tgene | Gene symbol | FBXL4 | CTTN | Gene ID | 26235 | 2017 |
| Gene name | F-box and leucine rich repeat protein 4 | cortactin | |
| Synonyms | FBL4|FBL5|MTDPS13 | EMS1 | |
| Cytomap | 6q16.1-q16.2 | 11q13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | F-box/LRR-repeat protein 4 | src substrate cortactin1110020L01Rikamplaxinems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)oncogene EMS1 | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q9UKA2 | Q14247 | |
| Ensembl transtripts involved in fusion gene | ENST00000369244, ENST00000229971, | ENST00000346329, ENST00000301843, ENST00000527622, ENST00000376561, ENST00000538675, | |
| Fusion gene scores | * DoF score | 5 X 5 X 2=50 | 8 X 7 X 8=448 |
| # samples | 5 | 16 | |
| ** MAII score | log2(5/50*10)=0 | log2(16/448*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: FBXL4 [Title/Abstract] AND CTTN [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 |
| ChiTaRS3.1 | BF354192 | FBXL4 | chr6 | 99391723 | + | CTTN | chr11 | 70268184 | - |
| * 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-intron | ENST00000369244 | ENST00000346329 | FBXL4 | chr6 | 99391723 | + | CTTN | chr11 | 70268184 | - |
| intron-intron | ENST00000369244 | ENST00000301843 | FBXL4 | chr6 | 99391723 | + | CTTN | chr11 | 70268184 | - |
| intron-intron | ENST00000369244 | ENST00000527622 | FBXL4 | chr6 | 99391723 | + | CTTN | chr11 | 70268184 | - |
| intron-intron | ENST00000369244 | ENST00000376561 | FBXL4 | chr6 | 99391723 | + | CTTN | chr11 | 70268184 | - |
| intron-intron | ENST00000369244 | ENST00000538675 | FBXL4 | chr6 | 99391723 | + | CTTN | chr11 | 70268184 | - |
| intron-intron | ENST00000229971 | ENST00000346329 | FBXL4 | chr6 | 99391723 | + | CTTN | chr11 | 70268184 | - |
| intron-intron | ENST00000229971 | ENST00000301843 | FBXL4 | chr6 | 99391723 | + | CTTN | chr11 | 70268184 | - |
| intron-intron | ENST00000229971 | ENST00000527622 | FBXL4 | chr6 | 99391723 | + | CTTN | chr11 | 70268184 | - |
| intron-intron | ENST00000229971 | ENST00000376561 | FBXL4 | chr6 | 99391723 | + | CTTN | chr11 | 70268184 | - |
| intron-intron | ENST00000229971 | ENST00000538675 | FBXL4 | chr6 | 99391723 | + | CTTN | chr11 | 70268184 | - |
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FusionProtFeatures for FBXL4_CTTN |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| FBXL4 | CTTN |
| Contributes to the organization of the actincytoskeleton and cell shape (PubMed:21296879). Plays a role in theformation of lamellipodia and in cell migration. Plays a role inthe regulation of neuron morphology, axon growth and formation ofneuronal growth cones (By similarity). Through its interactionwith CTTNBP2, involved in the regulation of neuronal spine density(By similarity). Plays a role in the invasiveness of cancer cells,and the formation of metastases (PubMed:16636290). Plays a role infocal adhesion assembly and turnover (By similarity). In complexwith ABL1 and MYLK regulates cortical actin-based cytoskeletalrearrangement critical to sphingosine 1-phosphate (S1P)-mediatedendothelial cell (EC) barrier enhancement (PubMed:20861316). Playsa role in intracellular protein transport and endocytosis, and inmodulating the levels of potassium channels present at the cellmembrane (PubMed:17959782). Plays a role in receptor-mediatedendocytosis via clathrin-coated pits (By similarity). Required forstabilization of KCNH1 channels at the cell membrane(PubMed:23144454). {ECO:0000250|UniProtKB:Q60598,ECO:0000250|UniProtKB:Q66HL2, ECO:0000269|PubMed:16636290,ECO:0000269|PubMed:17959782, ECO:0000269|PubMed:21296879,ECO:0000269|PubMed:23144454}. |
| 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 FBXL4_CTTN |
| 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 FBXL4_CTTN |
| 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 FBXL4_CTTN |
| 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 FBXL4_CTTN |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | FBXL4 | C3809592 | MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) | 2 | ORPHANET;UNIPROT |
| Tgene | CTTN | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
| Tgene | CTTN | C0023531 | Leukoplakia | 1 | CTD_human |
| Tgene | CTTN | C3495559 | Juvenile arthritis | 1 | CTD_human |
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