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Fusion gene ID: 13640 |
FusionGeneSummary for FN1_OPHN1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: FN1_OPHN1 | Fusion gene ID: 13640 | Hgene | Tgene | Gene symbol | FN1 | OPHN1 | Gene ID | 2335 | 4983 |
| Gene name | fibronectin 1 | oligophrenin 1 | |
| Synonyms | CIG|ED-B|FINC|FN|FNZ|GFND|GFND2|LETS|MSF|SMDCF | ARHGAP41|MRX60|OPN1 | |
| Cytomap | 2q35 | Xq12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | fibronectincold-insoluble globulinmigration-stimulating factor | oligophrenin-1mental retardation, X-linked 60oligophrenin-1, Rho-GTPase activating protein | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | P02751 | O60890 | |
| Ensembl transtripts involved in fusion gene | ENST00000421182, ENST00000357867, ENST00000323926, ENST00000336916, ENST00000354785, ENST00000357009, ENST00000346544, ENST00000345488, ENST00000359671, ENST00000446046, ENST00000443816, ENST00000432072, ENST00000356005, ENST00000490833, ENST00000426059, | ENST00000355520, ENST00000540071, ENST00000484842, | |
| Fusion gene scores | * DoF score | 20 X 22 X 6=2640 | 1 X 1 X 1=1 |
| # samples | 24 | 1 | |
| ** MAII score | log2(24/2640*10)=-3.4594316186373 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: FN1 [Title/Abstract] AND OPHN1 [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 |
| Hgene | FN1 | GO:0001932 | regulation of protein phosphorylation | 11792823 |
| Hgene | FN1 | GO:0008284 | positive regulation of cell proliferation | 25834989 |
| Hgene | FN1 | GO:0010628 | positive regulation of gene expression | 25834989 |
| Hgene | FN1 | GO:0018149 | peptide cross-linking | 3997886 |
| Hgene | FN1 | GO:0034446 | substrate adhesion-dependent cell spreading | 16236823 |
| Hgene | FN1 | GO:0035987 | endodermal cell differentiation | 23154389 |
| Hgene | FN1 | GO:0048146 | positive regulation of fibroblast proliferation | 25834989 |
| Hgene | FN1 | GO:0051702 | interaction with symbiont | 12167537|12421310|19429745 |
| Hgene | FN1 | GO:0052047 | interaction with other organism via secreted substance involved in symbiotic interaction | 17849409 |
| Hgene | FN1 | GO:0070372 | regulation of ERK1 and ERK2 cascade | 11792823 |
| Hgene | FN1 | GO:1904237 | positive regulation of substrate-dependent cell migration, cell attachment to substrate | 25834989 |
| Hgene | FN1 | GO:2001202 | negative regulation of transforming growth factor-beta secretion | 25834989 |
| 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 | BI057640 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| * 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 | ENST00000421182 | ENST00000355520 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000421182 | ENST00000540071 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000421182 | ENST00000484842 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000357867 | ENST00000355520 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000357867 | ENST00000540071 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000357867 | ENST00000484842 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000323926 | ENST00000355520 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000323926 | ENST00000540071 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000323926 | ENST00000484842 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000336916 | ENST00000355520 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000336916 | ENST00000540071 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000336916 | ENST00000484842 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000354785 | ENST00000355520 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000354785 | ENST00000540071 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000354785 | ENST00000484842 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000357009 | ENST00000355520 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000357009 | ENST00000540071 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000357009 | ENST00000484842 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000346544 | ENST00000355520 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000346544 | ENST00000540071 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000346544 | ENST00000484842 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000345488 | ENST00000355520 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000345488 | ENST00000540071 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000345488 | ENST00000484842 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000359671 | ENST00000355520 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000359671 | ENST00000540071 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000359671 | ENST00000484842 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000446046 | ENST00000355520 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000446046 | ENST00000540071 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000446046 | ENST00000484842 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000443816 | ENST00000355520 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000443816 | ENST00000540071 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000443816 | ENST00000484842 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000432072 | ENST00000355520 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000432072 | ENST00000540071 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000432072 | ENST00000484842 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000356005 | ENST00000355520 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000356005 | ENST00000540071 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000356005 | ENST00000484842 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000490833 | ENST00000355520 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000490833 | ENST00000540071 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000490833 | ENST00000484842 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000426059 | ENST00000355520 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000426059 | ENST00000540071 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
| intron-intron | ENST00000426059 | ENST00000484842 | FN1 | chr2 | 216256460 | + | OPHN1 | chrX | 67297949 | - |
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FusionProtFeatures for FN1_OPHN1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| FN1 | OPHN1 |
| Stimulates GTP hydrolysis of members of the Rho family.Its action on RHOA activity and signaling is implicated in growthand stabilization of dendritic spines, and therefore in synapticfunction. Critical for the stabilization of AMPA receptors atpostsynaptic sites. Critical for the regulation of synapticvesicle endocytosis at presynaptic terminals. Required for thelocalization of NR1D1 to dendrites, can suppress its repressoractivity and protect it from proteasomal degradation (Bysimilarity). {ECO:0000250}. |
| 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 FN1_OPHN1 |
| 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 FN1_OPHN1 |
| 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 FN1_OPHN1 |
| 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 |
| Hgene | FN1 | P02751 | DB08888 | Ocriplasmin | Fibronectin | biotech | approved |
| Hgene | FN1 | P02751 | DB01593 | Zinc | Fibronectin | small molecule | approved|investigational |
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RelatedDiseases for FN1_OPHN1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | FN1 | C0020538 | Hypertensive disease | 2 | CTD_human;HPO |
| Hgene | FN1 | C0000786 | Spontaneous abortion | 1 | CTD_human |
| Hgene | FN1 | C0003504 | Aortic Valve Insufficiency | 1 | CTD_human |
| Hgene | FN1 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
| Hgene | FN1 | C0010346 | Crohn Disease | 1 | CTD_human |
| Hgene | FN1 | C0011849 | Diabetes Mellitus | 1 | CTD_human |
| Hgene | FN1 | C0011881 | Diabetic Nephropathy | 1 | CTD_human |
| Hgene | FN1 | C0017636 | Glioblastoma | 1 | CTD_human |
| Hgene | FN1 | C0017668 | Focal glomerulosclerosis | 1 | CTD_human |
| Hgene | FN1 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| Hgene | FN1 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
| Hgene | FN1 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
| Hgene | FN1 | C0034069 | Pulmonary Fibrosis | 1 | CTD_human |
| Hgene | FN1 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Hgene | FN1 | C0085762 | Alcohol abuse | 1 | PSYGENET |
| Hgene | FN1 | C0149721 | Left Ventricular Hypertrophy | 1 | CTD_human |
| Hgene | FN1 | C0345967 | Malignant mesothelioma | 1 | CTD_human |
| Hgene | FN1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Hgene | FN1 | C1866075 | GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder) | 1 | UNIPROT |
| Tgene | OPHN1 | C1136249 | Mental Retardation, X-Linked | 1 | CTD_human |
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