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Fusion gene ID: 13435 |
FusionGeneSummary for FGR_EFCAB2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: FGR_EFCAB2 | Fusion gene ID: 13435 | Hgene | Tgene | Gene symbol | FGR | EFCAB2 | Gene ID | 2268 | 84288 |
| Gene name | FGR proto-oncogene, Src family tyrosine kinase | EF-hand calcium binding domain 2 | |
| Synonyms | SRC2|c-fgr|c-src2|p55-Fgr|p55c-fgr|p58-Fgr|p58c-fgr | CFAP200|DRC8 | |
| Cytomap | 1p35.3 | 1q44 | |
| Type of gene | protein-coding | protein-coding | |
| Description | tyrosine-protein kinase FgrGardner-Rasheed feline sarcoma viral (v-fgr) oncogene homologc-fgr protooncogenec-src-2 proto-oncogenefeline Gardner-Rasheed sarcoma viral oncogene homologp55-c-fgr proteinproto-oncogene c-Fgrproto-oncogene tyrosine-prote | dynein regulatory complex protein 8EF-hand calcium-binding domain-containing protein 2dynein regulatory complex subunit 8 | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | P09769 | Q5VUJ9 | |
| Ensembl transtripts involved in fusion gene | ENST00000374005, ENST00000399173, ENST00000545953, ENST00000374004, ENST00000468038, | ENST00000366523, ENST00000366522, ENST00000447569, ENST00000487845, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 2 X 2 X 1=4 |
| # samples | 2 | 2 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: FGR [Title/Abstract] AND EFCAB2 [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 | FGR | GO:0018108 | peptidyl-tyrosine phosphorylation | 7519620|8327512 |
| Hgene | FGR | GO:0046777 | protein autophosphorylation | 2181286|8327512 |
| 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 | BC002836 | FGR | chr1 | 27939139 | - | EFCAB2 | chr1 | 245250923 | + |
| * 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-3UTR | ENST00000374005 | ENST00000366523 | FGR | chr1 | 27939139 | - | EFCAB2 | chr1 | 245250923 | + |
| intron-intron | ENST00000374005 | ENST00000366522 | FGR | chr1 | 27939139 | - | EFCAB2 | chr1 | 245250923 | + |
| intron-intron | ENST00000374005 | ENST00000447569 | FGR | chr1 | 27939139 | - | EFCAB2 | chr1 | 245250923 | + |
| intron-intron | ENST00000374005 | ENST00000487845 | FGR | chr1 | 27939139 | - | EFCAB2 | chr1 | 245250923 | + |
| intron-3UTR | ENST00000399173 | ENST00000366523 | FGR | chr1 | 27939139 | - | EFCAB2 | chr1 | 245250923 | + |
| intron-intron | ENST00000399173 | ENST00000366522 | FGR | chr1 | 27939139 | - | EFCAB2 | chr1 | 245250923 | + |
| intron-intron | ENST00000399173 | ENST00000447569 | FGR | chr1 | 27939139 | - | EFCAB2 | chr1 | 245250923 | + |
| intron-intron | ENST00000399173 | ENST00000487845 | FGR | chr1 | 27939139 | - | EFCAB2 | chr1 | 245250923 | + |
| intron-3UTR | ENST00000545953 | ENST00000366523 | FGR | chr1 | 27939139 | - | EFCAB2 | chr1 | 245250923 | + |
| intron-intron | ENST00000545953 | ENST00000366522 | FGR | chr1 | 27939139 | - | EFCAB2 | chr1 | 245250923 | + |
| intron-intron | ENST00000545953 | ENST00000447569 | FGR | chr1 | 27939139 | - | EFCAB2 | chr1 | 245250923 | + |
| intron-intron | ENST00000545953 | ENST00000487845 | FGR | chr1 | 27939139 | - | EFCAB2 | chr1 | 245250923 | + |
| intron-3UTR | ENST00000374004 | ENST00000366523 | FGR | chr1 | 27939139 | - | EFCAB2 | chr1 | 245250923 | + |
| intron-intron | ENST00000374004 | ENST00000366522 | FGR | chr1 | 27939139 | - | EFCAB2 | chr1 | 245250923 | + |
| intron-intron | ENST00000374004 | ENST00000447569 | FGR | chr1 | 27939139 | - | EFCAB2 | chr1 | 245250923 | + |
| intron-intron | ENST00000374004 | ENST00000487845 | FGR | chr1 | 27939139 | - | EFCAB2 | chr1 | 245250923 | + |
| intron-3UTR | ENST00000468038 | ENST00000366523 | FGR | chr1 | 27939139 | - | EFCAB2 | chr1 | 245250923 | + |
| intron-intron | ENST00000468038 | ENST00000366522 | FGR | chr1 | 27939139 | - | EFCAB2 | chr1 | 245250923 | + |
| intron-intron | ENST00000468038 | ENST00000447569 | FGR | chr1 | 27939139 | - | EFCAB2 | chr1 | 245250923 | + |
| intron-intron | ENST00000468038 | ENST00000487845 | FGR | chr1 | 27939139 | - | EFCAB2 | chr1 | 245250923 | + |
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FusionProtFeatures for FGR_EFCAB2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| FGR | EFCAB2 |
| Non-receptor tyrosine-protein kinase that transmitssignals from cell surface receptors devoid of kinase activity andcontributes to the regulation of immune responses, includingneutrophil, monocyte, macrophage and mast cell functions,cytoskeleton remodeling in response to extracellular stimuli,phagocytosis, cell adhesion and migration. Promotes mast celldegranulation, release of inflammatory cytokines and IgE-mediatedanaphylaxis. Acts downstream of receptors that bind the Fc regionof immunoglobulins, such as MS4A2/FCER1B, FCGR2A and/or FCGR2B.Acts downstream of ITGB1 and ITGB2, and regulates actincytoskeleton reorganization, cell spreading and adhesion.Depending on the context, activates or inhibits cellularresponses. Functions as negative regulator of ITGB2 signaling,phagocytosis and SYK activity in monocytes. Required for normalITGB1 and ITGB2 signaling, normal cell spreading and adhesion inneutrophils and macrophages. Functions as positive regulator ofcell migration and regulates cytoskeleton reorganization via RAC1activation. Phosphorylates SYK (in vitro) and promotes SYK-dependent activation of AKT1 and MAP kinase signaling.Phosphorylates PLD2 in antigen-stimulated mast cells, leading toPLD2 activation and the production of the signaling moleculeslysophosphatidic acid and diacylglycerol. Promotes activation ofPIK3R1. Phosphorylates FASLG, and thereby regulates itsubiquitination and subsequent internalization. PhosphorylatesABL1. Promotes phosphorylation of CBL, CTTN, PIK3R1, PTK2/FAK1,PTK2B/PYK2 and VAV2. Phosphorylates HCLS1 that has already beenphosphorylated by SYK, but not unphosphorylated HCLS1.{ECO:0000269|PubMed:10739672, ECO:0000269|PubMed:17164290,ECO:0000269|PubMed:1737799, ECO:0000269|PubMed:7519620}. | Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility whichmaintains the alignment and integrity of the distal axoneme andregulates microtubule sliding in motile axonemes.{ECO:0000250|UniProtKB:A8J3A0}. |
| 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 FGR_EFCAB2 |
| 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 FGR_EFCAB2 |
| 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 FGR_EFCAB2 |
| 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 | FGR | P09769 | DB01254 | Dasatinib | Tyrosine-protein kinase Fgr | small molecule | approved|investigational |
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RelatedDiseases for FGR_EFCAB2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | FGR | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
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