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Fusion gene ID: 17864 |
FusionGeneSummary for ITGB3_MYL4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ITGB3_MYL4 | Fusion gene ID: 17864 | Hgene | Tgene | Gene symbol | ITGB3 | MYL4 | Gene ID | 3690 | 4635 |
| Gene name | integrin subunit beta 3 | myosin light chain 4 | |
| Synonyms | BDPLT16|BDPLT2|CD61|GP3A|GPIIIa|GT | ALC1|AMLC|GT1|PRO1957 | |
| Cytomap | 17q21.32 | 17q21.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | integrin beta-3antigen CD61integrin beta 3integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)platelet membrane glycoprotein IIIa | myosin light chain 4myosin light chain 1, embryonic muscle/atrial isoformmyosin light chain alkali GT-1 isoformmyosin, atrial/fetal muscle, light chainmyosin, light chain 4, alkali; atrial, embryonicmyosin, light polypeptide 4, alkali; atrial, embryo | |
| Modification date | 20180527 | 20180519 | |
| UniProtAcc | P05106 | P12829 | |
| Ensembl transtripts involved in fusion gene | ENST00000559488, ENST00000571680, ENST00000435993, ENST00000560629, | ENST00000572316, ENST00000354968, ENST00000393450, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 8 X 2 X 7=112 |
| # samples | 3 | 8 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(8/112*10)=-0.485426827170242 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ITGB3 [Title/Abstract] AND MYL4 [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 | ITGB3 | GO:0033627 | cell adhesion mediated by integrin | 12807887 |
| Hgene | ITGB3 | GO:0034446 | substrate adhesion-dependent cell spreading | 24658351 |
| 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 | LD | OV | TCGA-25-2401-01A | ITGB3 | chr17 | 45331306 | + | MYL4 | chr17 | 45286755 | + |
| * 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 |
| 5CDS-5UTR | ENST00000559488 | ENST00000572316 | ITGB3 | chr17 | 45331306 | + | MYL4 | chr17 | 45286755 | + |
| 5CDS-5UTR | ENST00000559488 | ENST00000354968 | ITGB3 | chr17 | 45331306 | + | MYL4 | chr17 | 45286755 | + |
| 5CDS-5UTR | ENST00000559488 | ENST00000393450 | ITGB3 | chr17 | 45331306 | + | MYL4 | chr17 | 45286755 | + |
| 5CDS-5UTR | ENST00000571680 | ENST00000572316 | ITGB3 | chr17 | 45331306 | + | MYL4 | chr17 | 45286755 | + |
| 5CDS-5UTR | ENST00000571680 | ENST00000354968 | ITGB3 | chr17 | 45331306 | + | MYL4 | chr17 | 45286755 | + |
| 5CDS-5UTR | ENST00000571680 | ENST00000393450 | ITGB3 | chr17 | 45331306 | + | MYL4 | chr17 | 45286755 | + |
| 5UTR-5UTR | ENST00000435993 | ENST00000572316 | ITGB3 | chr17 | 45331306 | + | MYL4 | chr17 | 45286755 | + |
| 5UTR-5UTR | ENST00000435993 | ENST00000354968 | ITGB3 | chr17 | 45331306 | + | MYL4 | chr17 | 45286755 | + |
| 5UTR-5UTR | ENST00000435993 | ENST00000393450 | ITGB3 | chr17 | 45331306 | + | MYL4 | chr17 | 45286755 | + |
| 5CDS-5UTR | ENST00000560629 | ENST00000572316 | ITGB3 | chr17 | 45331306 | + | MYL4 | chr17 | 45286755 | + |
| 5CDS-5UTR | ENST00000560629 | ENST00000354968 | ITGB3 | chr17 | 45331306 | + | MYL4 | chr17 | 45286755 | + |
| 5CDS-5UTR | ENST00000560629 | ENST00000393450 | ITGB3 | chr17 | 45331306 | + | MYL4 | chr17 | 45286755 | + |
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FusionProtFeatures for ITGB3_MYL4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ITGB3 | MYL4 |
| Integrin alpha-V/beta-3 (ITGAV:ITGB3) is a receptor forcytotactin, fibronectin, laminin, matrix metalloproteinase-2,osteopontin, osteomodulin, prothrombin, thrombospondin,vitronectin and von Willebrand factor. Integrin alpha-IIb/beta-3(ITGA2B:ITGB3) is a receptor for fibronectin, fibrinogen,plasminogen, prothrombin, thrombospondin and vitronectin.Integrins alpha-IIb/beta-3 and alpha-V/beta-3 recognize thesequence R-G-D in a wide array of ligands. Integrin alpha-IIb/beta-3 recognizes the sequence H-H-L-G-G-G-A-K-Q-A-G-D-V infibrinogen gamma chain. Following activation integrin alpha-IIb/beta-3 brings about platelet/platelet interaction throughbinding of soluble fibrinogen. This step leads to rapid plateletaggregation which physically plugs ruptured endothelial surface.Fibrinogen binding enhances SELP expression in activated platelets(By similarity). ITGAV:ITGB3 binds to fractalkine (CX3CL1) andacts as its coreceptor in CX3CR1-dependent fractalkine signaling(PubMed:23125415, PubMed:24789099). ITGAV:ITGB3 binds to NRG1 (viaEGF domain) and this binding is essential for NRG1-ERBB signaling(PubMed:20682778). ITGAV:ITGB3 binds to FGF1 and this binding isessential for FGF1 signaling (PubMed:18441324). ITGAV:ITGB3 bindsto FGF2 and this binding is essential for FGF2 signaling(PubMed:28302677). ITGAV:ITGB3 binds to IGF1 and this binding isessential for IGF1 signaling (PubMed:19578119). ITGAV:ITGB3 bindsto IGF2 and this binding is essential for IGF2 signaling(PubMed:28873464). ITGAV:ITGB3 binds to IL1B and this binding isessential for IL1B signaling (PubMed:29030430). ITGAV:ITGB3 bindsto PLA2G2A via a site (site 2) which is distinct from theclassical ligand-binding site (site 1) and this induces integrinconformational changes and enhanced ligand binding to site 1(PubMed:18635536, PubMed:25398877). ITGAV:ITGB3 acts as a receptorfor fibrillin-1 (FBN1) and mediates R-G-D-dependent cell adhesionto FBN1 (PubMed:12807887). {ECO:0000250|UniProtKB:O54890,ECO:0000269|PubMed:12807887, ECO:0000269|PubMed:18441324,ECO:0000269|PubMed:18635536, ECO:0000269|PubMed:19578119,ECO:0000269|PubMed:20682778, ECO:0000269|PubMed:23125415,ECO:0000269|PubMed:24789099, ECO:0000269|PubMed:25398877,ECO:0000269|PubMed:28302677, ECO:0000269|PubMed:28873464,ECO:0000269|PubMed:29030430, ECO:0000269|PubMed:9195946,ECO:0000303|PubMed:16322781, ECO:0000303|PubMed:17635696}. (Microbial infection) Integrin ITGAV:ITGB3 acts as areceptor for Herpes virus 8/HHV-8. {ECO:0000269|PubMed:18045938}. (Microbial infection) Integrin ITGAV:ITGB3 acts as areceptor for Coxsackievirus A9. {ECO:0000269|PubMed:7519807}. (Microbial infection) Acts as a receptor for Hantaanvirus. {ECO:0000269|PubMed:9618541}. (Microbial infection) Integrin ITGAV:ITGB3 acts as areceptor for Cytomegalovirus/HHV-5. {ECO:0000269|PubMed:15834425}. (Microbial infection) Integrin ITGA5:ITGB3 acts as areceptor for Human metapneumovirus. {ECO:0000269|PubMed:24478423}. (Microbial infection) Integrin ITGAV:ITGB3 acts aP05556sa receptor for Human parechovirus 1.{ECO:0000269|PubMed:11160695}. (Microbial infection) Integrin ITGAV:ITGB3 acts as areceptor for West nile virus. {ECO:0000269|PubMed:23658209}. (Microbial infection) In case of HIV-1 infection, theinteraction with extracellular viral Tat protein seems to enhanceangiogenesis in Kaposi's sarcoma lesions.{ECO:0000269|PubMed:10397733}. | Regulatory light chain of myosin. Does not bind calcium. |
| 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 ITGB3_MYL4 |
| 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 ITGB3_MYL4 |
| 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 |
| ITGB3 | ITGAV, PTK2, FLNB, FLNA, ITGB3BP, TLN1, ILK, PECAM1, PDGFRB, THBS1, PTK2B, PXN, PDGFRA, CD36, SYK, EPHA2, ITGA5, P4HB, PLA2G4A, VIM, PRKCB, MAPK3, SHC1, PLA2G2A, ITGA2B, KDR, PAK4, MMP2, ITGA4, ITGB1, DOK1, FGA, CIB1, FERMT3 | MYL4 | ALB, FN1, VCAM1, ITGA4, PYROXD2 |
| - 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 ITGB3_MYL4 |
| 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 | ITGB3 | P05106 | DB00054 | Abciximab | Integrin beta-3 | biotech | approved |
| Hgene | ITGB3 | P05106 | DB00098 | Antithymocyte immunoglobulin (rabbit) | Integrin beta-3 | biotech | approved |
| Hgene | ITGB3 | P05106 | DB00775 | Tirofiban | Integrin beta-3 | small molecule | approved |
| Hgene | ITGB3 | P05106 | DB00063 | Eptifibatide | Integrin beta-3 | biotech | approved|investigational |
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RelatedDiseases for ITGB3_MYL4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ITGB3 | C0040015 | Thrombasthenia | 18 | CTD_human;HPO;ORPHANET;UNIPROT |
| Hgene | ITGB3 | C0004352 | Autistic Disorder | 3 | CTD_human |
| Hgene | ITGB3 | C3853779 | Neonatal Alloimmune Thrombocytopenia | 2 | CTD_human |
| Hgene | ITGB3 | C0007274 | Carotid Artery Thrombosis | 1 | CTD_human |
| Hgene | ITGB3 | C0010072 | Coronary Thrombosis | 1 | CTD_human |
| Hgene | ITGB3 | C0017639 | Gliosis | 1 | CTD_human |
| Hgene | ITGB3 | C0019080 | Hemorrhage | 1 | CTD_human |
| Hgene | ITGB3 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | ITGB3 | C0027051 | Myocardial Infarction | 1 | CTD_human |
| Hgene | ITGB3 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Hgene | ITGB3 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Hgene | ITGB3 | C0038454 | Cerebrovascular accident | 1 | CTD_human |
| Hgene | ITGB3 | C0040034 | Thrombocytopenia | 1 | CTD_human |
| Hgene | ITGB3 | C0948089 | Acute Coronary Syndrome | 1 | CTD_human |
| Hgene | ITGB3 | C1510586 | Autism Spectrum Disorders | 1 | CTD_human |
| Hgene | ITGB3 | C1861195 | Glanzmann Thrombasthenia, Autosomal Dominant | 1 | ORPHANET;UNIPROT |
| Hgene | ITGB3 | C2937358 | Cerebral Hemorrhage | 1 | CTD_human |
| Tgene | MYL4 | C0007194 | Hypertrophic Cardiomyopathy | 1 | CTD_human |
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