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Fusion gene ID: 14205 |
FusionGeneSummary for GAB2_PXN |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: GAB2_PXN | Fusion gene ID: 14205 | Hgene | Tgene | Gene symbol | GAB2 | PXN | Gene ID | 9846 | 7837 |
| Gene name | GRB2 associated binding protein 2 | peroxidasin | |
| Synonyms | - | ASGD7|COPOA|D2S448|D2S448E|MG50|PRG2|PXN|VPO | |
| Cytomap | 11q14.1 | 2p25.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | GRB2-associated-binding protein 2Grb2-associated binder 2growth factor receptor bound protein 2-associated protein 2pp100 | peroxidasin homologmelanoma-associated antigen MG50p53-responsive gene 2 proteinvascular peroxidase 1 | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | Q9UQC2 | P49023 | |
| Ensembl transtripts involved in fusion gene | ENST00000340149, ENST00000361507, ENST00000526030, | ENST00000458477, ENST00000228307, ENST00000424649, ENST00000397506, ENST00000536957, ENST00000267257, ENST00000538144, | |
| Fusion gene scores | * DoF score | 16 X 10 X 5=800 | 8 X 8 X 2=128 |
| # samples | 16 | 8 | |
| ** MAII score | log2(16/800*10)=-2.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/128*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: GAB2 [Title/Abstract] AND PXN [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 | GAB2 | GO:0008284 | positive regulation of cell proliferation | 19172738 |
| Tgene | PXN | GO:0030198 | extracellular matrix organization | 19590037 |
| Tgene | PXN | GO:0042744 | hydrogen peroxide catabolic process | 18929642 |
| Tgene | PXN | GO:0055114 | oxidation-reduction process | 18929642 |
| 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 | BF911013 | GAB2 | chr11 | 77930196 | + | PXN | chr12 | 120662018 | + |
| * 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 | ENST00000340149 | ENST00000458477 | GAB2 | chr11 | 77930196 | + | PXN | chr12 | 120662018 | + |
| intron-5UTR | ENST00000340149 | ENST00000228307 | GAB2 | chr11 | 77930196 | + | PXN | chr12 | 120662018 | + |
| intron-5UTR | ENST00000340149 | ENST00000424649 | GAB2 | chr11 | 77930196 | + | PXN | chr12 | 120662018 | + |
| intron-intron | ENST00000340149 | ENST00000397506 | GAB2 | chr11 | 77930196 | + | PXN | chr12 | 120662018 | + |
| intron-intron | ENST00000340149 | ENST00000536957 | GAB2 | chr11 | 77930196 | + | PXN | chr12 | 120662018 | + |
| intron-intron | ENST00000340149 | ENST00000267257 | GAB2 | chr11 | 77930196 | + | PXN | chr12 | 120662018 | + |
| intron-5UTR | ENST00000340149 | ENST00000538144 | GAB2 | chr11 | 77930196 | + | PXN | chr12 | 120662018 | + |
| intron-5UTR | ENST00000361507 | ENST00000458477 | GAB2 | chr11 | 77930196 | + | PXN | chr12 | 120662018 | + |
| intron-5UTR | ENST00000361507 | ENST00000228307 | GAB2 | chr11 | 77930196 | + | PXN | chr12 | 120662018 | + |
| intron-5UTR | ENST00000361507 | ENST00000424649 | GAB2 | chr11 | 77930196 | + | PXN | chr12 | 120662018 | + |
| intron-intron | ENST00000361507 | ENST00000397506 | GAB2 | chr11 | 77930196 | + | PXN | chr12 | 120662018 | + |
| intron-intron | ENST00000361507 | ENST00000536957 | GAB2 | chr11 | 77930196 | + | PXN | chr12 | 120662018 | + |
| intron-intron | ENST00000361507 | ENST00000267257 | GAB2 | chr11 | 77930196 | + | PXN | chr12 | 120662018 | + |
| intron-5UTR | ENST00000361507 | ENST00000538144 | GAB2 | chr11 | 77930196 | + | PXN | chr12 | 120662018 | + |
| intron-5UTR | ENST00000526030 | ENST00000458477 | GAB2 | chr11 | 77930196 | + | PXN | chr12 | 120662018 | + |
| intron-5UTR | ENST00000526030 | ENST00000228307 | GAB2 | chr11 | 77930196 | + | PXN | chr12 | 120662018 | + |
| intron-5UTR | ENST00000526030 | ENST00000424649 | GAB2 | chr11 | 77930196 | + | PXN | chr12 | 120662018 | + |
| intron-intron | ENST00000526030 | ENST00000397506 | GAB2 | chr11 | 77930196 | + | PXN | chr12 | 120662018 | + |
| intron-intron | ENST00000526030 | ENST00000536957 | GAB2 | chr11 | 77930196 | + | PXN | chr12 | 120662018 | + |
| intron-intron | ENST00000526030 | ENST00000267257 | GAB2 | chr11 | 77930196 | + | PXN | chr12 | 120662018 | + |
| intron-5UTR | ENST00000526030 | ENST00000538144 | GAB2 | chr11 | 77930196 | + | PXN | chr12 | 120662018 | + |
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FusionProtFeatures for GAB2_PXN |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| GAB2 | PXN |
| Adapter protein which acts downstream of severalmembrane receptors including cytokine, antigen, hormone, cellmatrix and growth factor receptors to regulate multiple signalingpathways. Regulates osteoclast differentiation mediating theTNFRSF11A/RANK signaling. In allergic response, it plays a role inmast cells activation and degranulation through PI-3-kinaseregulation. Also involved in the regulation of cell proliferationand hematopoiesis. {ECO:0000269|PubMed:15750601,ECO:0000269|PubMed:19172738}. | Cytoskeletal protein involved in actin-membraneattachment at sites of cell adhesion to the extracellular matrix(focal adhesion). |
| 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 GAB2_PXN |
| 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 GAB2_PXN |
| 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 GAB2_PXN |
| 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 GAB2_PXN |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | GAB2 | C0025202 | melanoma | 1 | CTD_human |
| Hgene | GAB2 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
| Hgene | GAB2 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Tgene | PXN | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
| Tgene | PXN | C0025205 | Melanoma, Experimental | 1 | CTD_human |
| Tgene | PXN | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
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