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Fusion gene ID: 29360 |
FusionGeneSummary for PTK2_UGT2A3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PTK2_UGT2A3 | Fusion gene ID: 29360 | Hgene | Tgene | Gene symbol | PTK2 | UGT2A3 | Gene ID | 5747 | 79799 |
| Gene name | protein tyrosine kinase 2 | UDP glucuronosyltransferase family 2 member A3 | |
| Synonyms | FADK|FAK|FAK1|FRNK|PPP1R71|p125FAK|pp125FAK | - | |
| Cytomap | 8q24.3 | 4q13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | focal adhesion kinase 1FADK 1FAK-related non-kinase polypeptidePTK2 protein tyrosine kinase 2focal adhesion kinase isoform FAK-Del33focal adhesion kinase-related nonkinaseprotein phosphatase 1 regulatory subunit 71 | UDP-glucuronosyltransferase 2A3UDP glucuronosyltransferase 2 family, polypeptide A3UDPGT 2A3 | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | Q05397 | Q6UWM9 | |
| Ensembl transtripts involved in fusion gene | ENST00000522684, ENST00000535192, ENST00000519465, ENST00000517887, ENST00000521059, ENST00000395218, ENST00000538769, ENST00000340930, ENST00000519419, ENST00000430260, ENST00000519881, ENST00000520892, ENST00000519635, ENST00000517712, ENST00000522950, ENST00000520151, | ENST00000251566, ENST00000420231, ENST00000547910, | |
| Fusion gene scores | * DoF score | 23 X 15 X 10=3450 | 4 X 1 X 3=12 |
| # samples | 25 | 4 | |
| ** MAII score | log2(25/3450*10)=-3.78659636189081 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/12*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PTK2 [Title/Abstract] AND UGT2A3 [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 | PTK2 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 24036928 |
| Hgene | PTK2 | GO:0007229 | integrin-mediated signaling pathway | 24036928 |
| Hgene | PTK2 | GO:0018108 | peptidyl-tyrosine phosphorylation | 10655584|11331870 |
| Hgene | PTK2 | GO:0022408 | negative regulation of cell-cell adhesion | 21703394 |
| Hgene | PTK2 | GO:0030335 | positive regulation of cell migration | 11331870|21703394 |
| Hgene | PTK2 | GO:0033628 | regulation of cell adhesion mediated by integrin | 10655584 |
| Hgene | PTK2 | GO:0046777 | protein autophosphorylation | 10655584|11331870 |
| Hgene | PTK2 | GO:0048013 | ephrin receptor signaling pathway | 10655584 |
| Hgene | PTK2 | GO:0060396 | growth hormone receptor signaling pathway | 10925297 |
| Tgene | UGT2A3 | GO:0052695 | cellular glucuronidation | 19858781 |
| 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 |
| TCGA | RV | BLCA | TCGA-DK-A1AD-01A | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| * 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 |
| 5UTR-3CDS | ENST00000522684 | ENST00000251566 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| 5UTR-5UTR | ENST00000522684 | ENST00000420231 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| 5UTR-intron | ENST00000522684 | ENST00000547910 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| intron-3CDS | ENST00000535192 | ENST00000251566 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| intron-5UTR | ENST00000535192 | ENST00000420231 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| intron-intron | ENST00000535192 | ENST00000547910 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| intron-3CDS | ENST00000519465 | ENST00000251566 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| intron-5UTR | ENST00000519465 | ENST00000420231 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| intron-intron | ENST00000519465 | ENST00000547910 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| intron-3CDS | ENST00000517887 | ENST00000251566 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| intron-5UTR | ENST00000517887 | ENST00000420231 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| intron-intron | ENST00000517887 | ENST00000547910 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| 5UTR-3CDS | ENST00000521059 | ENST00000251566 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| 5UTR-5UTR | ENST00000521059 | ENST00000420231 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| 5UTR-intron | ENST00000521059 | ENST00000547910 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| 5UTR-3CDS | ENST00000395218 | ENST00000251566 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| 5UTR-5UTR | ENST00000395218 | ENST00000420231 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| 5UTR-intron | ENST00000395218 | ENST00000547910 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| intron-3CDS | ENST00000538769 | ENST00000251566 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| intron-5UTR | ENST00000538769 | ENST00000420231 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| intron-intron | ENST00000538769 | ENST00000547910 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| 5UTR-3CDS | ENST00000340930 | ENST00000251566 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| 5UTR-5UTR | ENST00000340930 | ENST00000420231 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| 5UTR-intron | ENST00000340930 | ENST00000547910 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| intron-3CDS | ENST00000519419 | ENST00000251566 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| intron-5UTR | ENST00000519419 | ENST00000420231 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| intron-intron | ENST00000519419 | ENST00000547910 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| intron-3CDS | ENST00000430260 | ENST00000251566 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| intron-5UTR | ENST00000430260 | ENST00000420231 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| intron-intron | ENST00000430260 | ENST00000547910 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| 5UTR-3CDS | ENST00000519881 | ENST00000251566 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| 5UTR-5UTR | ENST00000519881 | ENST00000420231 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| 5UTR-intron | ENST00000519881 | ENST00000547910 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| intron-3CDS | ENST00000520892 | ENST00000251566 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| intron-5UTR | ENST00000520892 | ENST00000420231 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| intron-intron | ENST00000520892 | ENST00000547910 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| intron-3CDS | ENST00000519635 | ENST00000251566 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| intron-5UTR | ENST00000519635 | ENST00000420231 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| intron-intron | ENST00000519635 | ENST00000547910 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| intron-3CDS | ENST00000517712 | ENST00000251566 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| intron-5UTR | ENST00000517712 | ENST00000420231 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| intron-intron | ENST00000517712 | ENST00000547910 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| intron-3CDS | ENST00000522950 | ENST00000251566 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| intron-5UTR | ENST00000522950 | ENST00000420231 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| intron-intron | ENST00000522950 | ENST00000547910 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| intron-3CDS | ENST00000520151 | ENST00000251566 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| intron-5UTR | ENST00000520151 | ENST00000420231 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
| intron-intron | ENST00000520151 | ENST00000547910 | PTK2 | chr8 | 142011224 | - | UGT2A3 | chr4 | 69798477 | - |
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FusionProtFeatures for PTK2_UGT2A3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PTK2 | UGT2A3 |
| Non-receptor protein-tyrosine kinase that plays anessential role in regulating cell migration, adhesion, spreading,reorganization of the actin cytoskeleton, formation anddisassembly of focal adhesions and cell protrusions, cell cycleprogression, cell proliferation and apoptosis. Required for earlyembryonic development and placenta development. Required forembryonic angiogenesis, normal cardiomyocyte migration andproliferation, and normal heart development. Regulates axon growthand neuronal cell migration, axon branching and synapse formation;required for normal development of the nervous system. Plays arole in osteogenesis and differentiation of osteoblasts. Functionsin integrin signal transduction, but also in signaling downstreamof numerous growth factor receptors, G-protein coupled receptors(GPCR), EPHA2, netrin receptors and LDL receptors. Formsmultisubunit signaling complexes with SRC and SRC family membersupon activation; this leads to the phosphorylation of additionaltyrosine residues, creating binding sites for scaffold proteins,effectors and substrates. Regulates numerous signaling pathways.Promotes activation of phosphatidylinositol 3-kinase and the AKT1signaling cascade. Promotes activation of MAPK1/ERK2, MAPK3/ERK1and the MAP kinase signaling cascade. Promotes localized andtransient activation of guanine nucleotide exchange factors (GEFs)and GTPase-activating proteins (GAPs), and thereby modulates theactivity of Rho family GTPases. Signaling via CAS family membersmediates activation of RAC1. Recruits the ubiquitin ligase MDM2 toP53/TP53 in the nucleus, and thereby regulates P53/TP53 activity,P53/TP53 ubiquitination and proteasomal degradation.Phosphorylates SRC; this increases SRC kinase activity.Phosphorylates ACTN1, ARHGEF7, GRB7, RET and WASL. Promotesphosphorylation of PXN and STAT1; most likely PXN and STAT1 arephosphorylated by a SRC family kinase that is recruited toautophosphorylated PTK2/FAK1, rather than by PTK2/FAK1 itself.Promotes phosphorylation of BCAR1; GIT2 and SHC1; this requiresboth SRC and PTK2/FAK1. Promotes phosphorylation of BMX andPIK3R1. Isoform 6 (FRNK) does not contain a kinase domain andinhibits PTK2/FAK1 phosphorylation and signaling. Its enhancedexpression can attenuate the nuclear accumulation of LPXN andlimit its ability to enhance serum response factor (SRF)-dependentgene transcription. {ECO:0000269|PubMed:10655584,ECO:0000269|PubMed:11331870, ECO:0000269|PubMed:11980671,ECO:0000269|PubMed:15166238, ECO:0000269|PubMed:15561106,ECO:0000269|PubMed:15895076, ECO:0000269|PubMed:16919435,ECO:0000269|PubMed:16927379, ECO:0000269|PubMed:17395594,ECO:0000269|PubMed:17431114, ECO:0000269|PubMed:17968709,ECO:0000269|PubMed:18006843, ECO:0000269|PubMed:18206965,ECO:0000269|PubMed:18256281, ECO:0000269|PubMed:18292575,ECO:0000269|PubMed:18497331, ECO:0000269|PubMed:18677107,ECO:0000269|PubMed:19138410, ECO:0000269|PubMed:19147981,ECO:0000269|PubMed:19224453, ECO:0000269|PubMed:20332118,ECO:0000269|PubMed:20495381, ECO:0000269|PubMed:21454698}. | UDP-glucuronosyltransferases catalyze phase IIbiotransformation reactions in which lipophilic substrates areconjugated with glucuronic acid to increase water solubility andenhance excretion. They are of major importance in the conjugationand subsequent elimination of potentially toxic xenobiotics andendogenous compounds (By similarity). {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 PTK2_UGT2A3 |
| 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 PTK2_UGT2A3 |
| 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 |
| PTK2 | IRS1, SOCS2, ATG12, TRIP6, BCAR1, CIB1, GIT1, DOCK1, SRC, CRK, PXN, ITGB5, ITGB3, MAPK8IP3, EGFR, GRB2, JAK2, SHC1, EZR, PTEN, STAT1, TGFB1I1, CCR5, GSK3B, CXCR4, BMX, TSC2, TSC1, PLCG1, IGF1R, PTPN11, EPHA2, ARHGAP26, ITGA4, NCK1, FGR, TLN1, GSN, AMPH, BIN1, FYN, YES1, NEDD9, STAT3, PPP1CB, PTK2, SYK, LYN, PIK3R1, RB1CC1, NCK2, GRB7, CSK, DCC, NEO1, GAPDH, PARP1, TP53, MDM2, RAC1, SOCS3, HES1, NASP, FBP1, F13A1, BBS10, NACAD, EEF1G, DDX39A, ZNF331, EPS8L2, LPXN, CBL, DAG1, ELAVL1, SH3KBP1, PDCD6IP, CTTN, ASAP1, PPP1CA, STAP2, STUB1, PTAFR, RBSN, APP, HSP90AA1, PTRH2, SAE1, SRPK1, TRIM72, UBE2H, IQGAP1, DEF6, OTUD6B, TRMT6, NTRK1, SELE, SH2D1A, DOK4, PTPN6, SH2D2A, HCK, PIK3R3, SH2D1B, PKD1, GNB1, GNG2, VPS16, ERBB2, CCNA1, PIAS1, RET, APC, TRIM15, ITGB1, ITGAV, PRKG1, SERPINB2, TEK, AKT1, CDH5, TRIM25 | UGT2A3 | UGT2A2, UGT2B15, HBA2 |
| - 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 PTK2_UGT2A3 |
| 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 PTK2_UGT2A3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PTK2 | C0007137 | Squamous cell carcinoma | 2 | CTD_human |
| Hgene | PTK2 | C0027626 | Neoplasm Invasiveness | 2 | CTD_human |
| Hgene | PTK2 | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
| Hgene | PTK2 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
| Hgene | PTK2 | C0017636 | Glioblastoma | 1 | CTD_human |
| Hgene | PTK2 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
| Hgene | PTK2 | C0026640 | Mouth Neoplasms | 1 | CTD_human |
| Hgene | PTK2 | C2239176 | Liver carcinoma | 1 | CTD_human |
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