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Fusion gene ID: 8588 |
FusionGeneSummary for CSF3R_DAB2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CSF3R_DAB2 | Fusion gene ID: 8588 | Hgene | Tgene | Gene symbol | CSF3R | DAB2 | Gene ID | 1441 | 1601 |
| Gene name | colony stimulating factor 3 receptor | DAB2, clathrin adaptor protein | |
| Synonyms | CD114|GCSFR|SCN7 | DOC-2|DOC2 | |
| Cytomap | 1p34.3 | 5p13.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | granulocyte colony-stimulating factor receptorCD114 antigenG-CSF receptorG-CSF-Rcolony stimulating factor 3 receptor (granulocyte) | disabled homolog 2Dab, mitogen-responsive phosphoprotein, homolog 2adaptor molecule disabled-2differentially expressed in ovarian carcinoma 2differentially-expressed protein 2disabled homolog 2, mitogen-responsive phosphoprotein | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q99062 | P98082 | |
| Ensembl transtripts involved in fusion gene | ENST00000373103, ENST00000373106, ENST00000373104, ENST00000361632, ENST00000331941, ENST00000487540, ENST00000418048, ENST00000338937, ENST00000440588, | ENST00000339788, ENST00000320816, ENST00000545653, ENST00000509337, ENST00000512525, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 6 X 7 X 2=84 |
| # samples | 1 | 7 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(7/84*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CSF3R [Title/Abstract] AND DAB2 [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 | DAB2 | GO:0010718 | positive regulation of epithelial to mesenchymal transition | 15734730 |
| Tgene | DAB2 | GO:0010862 | positive regulation of pathway-restricted SMAD protein phosphorylation | 11387212 |
| Tgene | DAB2 | GO:0030511 | positive regulation of transforming growth factor beta receptor signaling pathway | 11387212 |
| Tgene | DAB2 | GO:0043066 | negative regulation of apoptotic process | 15734730 |
| Tgene | DAB2 | GO:0060391 | positive regulation of SMAD protein signal transduction | 11387212 |
| 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 | BG006262 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| * 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-3CDS | ENST00000373103 | ENST00000339788 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-3CDS | ENST00000373103 | ENST00000320816 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-3CDS | ENST00000373103 | ENST00000545653 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-3CDS | ENST00000373103 | ENST00000509337 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-intron | ENST00000373103 | ENST00000512525 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-3CDS | ENST00000373106 | ENST00000339788 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-3CDS | ENST00000373106 | ENST00000320816 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-3CDS | ENST00000373106 | ENST00000545653 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-3CDS | ENST00000373106 | ENST00000509337 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-intron | ENST00000373106 | ENST00000512525 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-3CDS | ENST00000373104 | ENST00000339788 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-3CDS | ENST00000373104 | ENST00000320816 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-3CDS | ENST00000373104 | ENST00000545653 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-3CDS | ENST00000373104 | ENST00000509337 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-intron | ENST00000373104 | ENST00000512525 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-3CDS | ENST00000361632 | ENST00000339788 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-3CDS | ENST00000361632 | ENST00000320816 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-3CDS | ENST00000361632 | ENST00000545653 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-3CDS | ENST00000361632 | ENST00000509337 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-intron | ENST00000361632 | ENST00000512525 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-3CDS | ENST00000331941 | ENST00000339788 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-3CDS | ENST00000331941 | ENST00000320816 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-3CDS | ENST00000331941 | ENST00000545653 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-3CDS | ENST00000331941 | ENST00000509337 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-intron | ENST00000331941 | ENST00000512525 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-3CDS | ENST00000487540 | ENST00000339788 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-3CDS | ENST00000487540 | ENST00000320816 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-3CDS | ENST00000487540 | ENST00000545653 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-3CDS | ENST00000487540 | ENST00000509337 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-intron | ENST00000487540 | ENST00000512525 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-3CDS | ENST00000418048 | ENST00000339788 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-3CDS | ENST00000418048 | ENST00000320816 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-3CDS | ENST00000418048 | ENST00000545653 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-3CDS | ENST00000418048 | ENST00000509337 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-intron | ENST00000418048 | ENST00000512525 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-3CDS | ENST00000338937 | ENST00000339788 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-3CDS | ENST00000338937 | ENST00000320816 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-3CDS | ENST00000338937 | ENST00000545653 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-3CDS | ENST00000338937 | ENST00000509337 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-intron | ENST00000338937 | ENST00000512525 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-3CDS | ENST00000440588 | ENST00000339788 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-3CDS | ENST00000440588 | ENST00000320816 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-3CDS | ENST00000440588 | ENST00000545653 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-3CDS | ENST00000440588 | ENST00000509337 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
| intron-intron | ENST00000440588 | ENST00000512525 | CSF3R | chr1 | 36939400 | + | DAB2 | chr5 | 39393378 | + |
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FusionProtFeatures for CSF3R_DAB2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CSF3R | DAB2 |
| Receptor for granulocyte colony-stimulating factor(CSF3), essential for granulocytic maturation. Plays a crucialrole in the proliferation, differientation and survival of cellsalong the neutrophilic lineage. In addition it may function insome adhesion or recognition events at the cell surface.{ECO:0000269|PubMed:7514305}. | Adapter protein that functions as clathrin-associatedsorting protein (CLASP) required for clathrin-mediated endocytosisof selected cargo proteins. Can bind and assemble clathrin, andbinds simultaneously to phosphatidylinositol 4,5-bisphosphate(PtdIns(4,5)P2) and cargos containing non-phosphorylated NPXYinternalization motifs, such as the LDL receptor, to recruit themto clathrin-coated pits. Can function in clathrin-mediatedendocytosis independently of the AP-2 complex. Involved inendocytosis of integrin beta-1; this function seems to redundantwith the AP-2 complex and seems to require DAB2 binding toendocytosis accessory EH domain-containing proteins such as EPS15,EPS15L1 and ITSN1. Involved in endocytosis of cystic fibrosistransmembrane conductance regulator/CFTR. Involved in endocytosisof megalin/LRP2 lipoprotein receptor during embryonal development.Required for recycling of the TGF-beta receptor. Involved in CFTRtrafficking to the late endosome. Involved in several receptor-mediated signaling pathways. Involved in TGF-beta receptorsignaling and facilitates phosphorylation of the signal transducerSMAD2. Mediates TFG-beta-stimulated JNK activation. May inhibitthe canoniocal Wnt/beta-catenin signaling pathway by stabilizingthe beta-catenin destruction complex through a competingassociation with axin preventing its dephosphorylation throughprotein phosphatase 1 (PP1). Sequesters LRP6 towards clathrin-mediated endocytosis, leading to inhibition of Wnt/beta-cateninsignaling. May activate non-canonical Wnt signaling. In cellsurface growth factor/Ras signaling pathways proposed to inhibitERK activation by interrupting the binding of GRB2 to SOS1 and toinhibit SRC by preventing its activating phosphorylation at 'Tyr-419'. Proposed to be involved in modulation of androgen receptor(AR) signaling mediated by SRC activation; seems to compete withAR for interaction with SRC. Plays a role in the CSF-1 signaltransduction pathway. Plays a role in cellular differentiation.Involved in cell positioning and formation of visceral endoderm(VE) during embryogenesis and proposed to be required in the VE torespond to Nodal signaling coming from the epiblast. Required forthe epithelial to mesenchymal transition, a process necessary forproper embryonic development. May be involved in myeloid celldifferentiation and can induce macrophage adhesion and spreading.May act as a tumor suppressor. {ECO:0000269|PubMed:11387212,ECO:0000269|PubMed:12805222, ECO:0000269|PubMed:16267015,ECO:0000269|PubMed:16984970, ECO:0000269|PubMed:19306879,ECO:0000269|PubMed:21995445, ECO:0000269|PubMed:22323290,ECO:0000269|PubMed:22491013}. |
| 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 CSF3R_DAB2 |
| 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 CSF3R_DAB2 |
| 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 CSF3R_DAB2 |
| 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 | CSF3R | Q99062 | DB00019 | Pegfilgrastim | Granulocyte colony-stimulating factor receptor | biotech | approved |
| Hgene | CSF3R | Q99062 | DB00099 | Filgrastim | Granulocyte colony-stimulating factor receptor | biotech | approved |
| Hgene | CSF3R | Q99062 | DB13144 | Lenograstim | Granulocyte colony-stimulating factor receptor | biotech | approved|investigational |
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RelatedDiseases for CSF3R_DAB2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CSF3R | C0023518 | Leukocytosis | 1 | CTD_human |
| Hgene | CSF3R | C0543669 | Neutrophilia, Hereditary | 1 | CTD_human;ORPHANET;UNIPROT |
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