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Fusion gene ID: 17873 |
FusionGeneSummary for ITGB4_PLSCR1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ITGB4_PLSCR1 | Fusion gene ID: 17873 | Hgene | Tgene | Gene symbol | ITGB4 | PLSCR1 | Gene ID | 3691 | 5359 |
| Gene name | integrin subunit beta 4 | phospholipid scramblase 1 | |
| Synonyms | CD104|GP150 | MMTRA1B | |
| Cytomap | 17q25.1 | 3q24 | |
| Type of gene | protein-coding | protein-coding | |
| Description | integrin beta-4CD104 antigen | phospholipid scramblase 1PL scramblase 1ca(2+)-dependent phospholipid scramblase 1erythrocyte phospholipid scramblase | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | P16144 | O15162 | |
| Ensembl transtripts involved in fusion gene | ENST00000579662, ENST00000339591, ENST00000200181, ENST00000450894, ENST00000449880, ENST00000584558, | ENST00000342435, ENST00000448205, ENST00000487389, ENST00000448787, ENST00000484560, | |
| Fusion gene scores | * DoF score | 15 X 12 X 8=1440 | 5 X 5 X 1=25 |
| # samples | 16 | 5 | |
| ** MAII score | log2(16/1440*10)=-3.16992500144231 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/25*10)=1 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: ITGB4 [Title/Abstract] AND PLSCR1 [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 | ITGB4 | GO:0009611 | response to wounding | 19403692 |
| Hgene | ITGB4 | GO:0031581 | hemidesmosome assembly | 12482924 |
| Tgene | PLSCR1 | GO:0006915 | apoptotic process | 10770950 |
| Tgene | PLSCR1 | GO:0017121 | phospholipid scrambling | 9218461|10770950|18629440 |
| Tgene | PLSCR1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 16091359 |
| Tgene | PLSCR1 | GO:2000373 | positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity | 17567603 |
| 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 | AW369496 | ITGB4 | chr17 | 73748632 | + | PLSCR1 | chr3 | 146239375 | + |
| * 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 |
| Frame-shift | ENST00000579662 | ENST00000342435 | ITGB4 | chr17 | 73748632 | + | PLSCR1 | chr3 | 146239375 | + |
| 5CDS-intron | ENST00000579662 | ENST00000448205 | ITGB4 | chr17 | 73748632 | + | PLSCR1 | chr3 | 146239375 | + |
| 5CDS-intron | ENST00000579662 | ENST00000487389 | ITGB4 | chr17 | 73748632 | + | PLSCR1 | chr3 | 146239375 | + |
| 5CDS-intron | ENST00000579662 | ENST00000448787 | ITGB4 | chr17 | 73748632 | + | PLSCR1 | chr3 | 146239375 | + |
| 5CDS-intron | ENST00000579662 | ENST00000484560 | ITGB4 | chr17 | 73748632 | + | PLSCR1 | chr3 | 146239375 | + |
| Frame-shift | ENST00000339591 | ENST00000342435 | ITGB4 | chr17 | 73748632 | + | PLSCR1 | chr3 | 146239375 | + |
| 5CDS-intron | ENST00000339591 | ENST00000448205 | ITGB4 | chr17 | 73748632 | + | PLSCR1 | chr3 | 146239375 | + |
| 5CDS-intron | ENST00000339591 | ENST00000487389 | ITGB4 | chr17 | 73748632 | + | PLSCR1 | chr3 | 146239375 | + |
| 5CDS-intron | ENST00000339591 | ENST00000448787 | ITGB4 | chr17 | 73748632 | + | PLSCR1 | chr3 | 146239375 | + |
| 5CDS-intron | ENST00000339591 | ENST00000484560 | ITGB4 | chr17 | 73748632 | + | PLSCR1 | chr3 | 146239375 | + |
| Frame-shift | ENST00000200181 | ENST00000342435 | ITGB4 | chr17 | 73748632 | + | PLSCR1 | chr3 | 146239375 | + |
| 5CDS-intron | ENST00000200181 | ENST00000448205 | ITGB4 | chr17 | 73748632 | + | PLSCR1 | chr3 | 146239375 | + |
| 5CDS-intron | ENST00000200181 | ENST00000487389 | ITGB4 | chr17 | 73748632 | + | PLSCR1 | chr3 | 146239375 | + |
| 5CDS-intron | ENST00000200181 | ENST00000448787 | ITGB4 | chr17 | 73748632 | + | PLSCR1 | chr3 | 146239375 | + |
| 5CDS-intron | ENST00000200181 | ENST00000484560 | ITGB4 | chr17 | 73748632 | + | PLSCR1 | chr3 | 146239375 | + |
| Frame-shift | ENST00000450894 | ENST00000342435 | ITGB4 | chr17 | 73748632 | + | PLSCR1 | chr3 | 146239375 | + |
| 5CDS-intron | ENST00000450894 | ENST00000448205 | ITGB4 | chr17 | 73748632 | + | PLSCR1 | chr3 | 146239375 | + |
| 5CDS-intron | ENST00000450894 | ENST00000487389 | ITGB4 | chr17 | 73748632 | + | PLSCR1 | chr3 | 146239375 | + |
| 5CDS-intron | ENST00000450894 | ENST00000448787 | ITGB4 | chr17 | 73748632 | + | PLSCR1 | chr3 | 146239375 | + |
| 5CDS-intron | ENST00000450894 | ENST00000484560 | ITGB4 | chr17 | 73748632 | + | PLSCR1 | chr3 | 146239375 | + |
| Frame-shift | ENST00000449880 | ENST00000342435 | ITGB4 | chr17 | 73748632 | + | PLSCR1 | chr3 | 146239375 | + |
| 5CDS-intron | ENST00000449880 | ENST00000448205 | ITGB4 | chr17 | 73748632 | + | PLSCR1 | chr3 | 146239375 | + |
| 5CDS-intron | ENST00000449880 | ENST00000487389 | ITGB4 | chr17 | 73748632 | + | PLSCR1 | chr3 | 146239375 | + |
| 5CDS-intron | ENST00000449880 | ENST00000448787 | ITGB4 | chr17 | 73748632 | + | PLSCR1 | chr3 | 146239375 | + |
| 5CDS-intron | ENST00000449880 | ENST00000484560 | ITGB4 | chr17 | 73748632 | + | PLSCR1 | chr3 | 146239375 | + |
| intron-3CDS | ENST00000584558 | ENST00000342435 | ITGB4 | chr17 | 73748632 | + | PLSCR1 | chr3 | 146239375 | + |
| intron-intron | ENST00000584558 | ENST00000448205 | ITGB4 | chr17 | 73748632 | + | PLSCR1 | chr3 | 146239375 | + |
| intron-intron | ENST00000584558 | ENST00000487389 | ITGB4 | chr17 | 73748632 | + | PLSCR1 | chr3 | 146239375 | + |
| intron-intron | ENST00000584558 | ENST00000448787 | ITGB4 | chr17 | 73748632 | + | PLSCR1 | chr3 | 146239375 | + |
| intron-intron | ENST00000584558 | ENST00000484560 | ITGB4 | chr17 | 73748632 | + | PLSCR1 | chr3 | 146239375 | + |
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FusionProtFeatures for ITGB4_PLSCR1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ITGB4 | PLSCR1 |
| May mediate accelerated ATP-independent bidirectionaltransbilayer migration of phospholipids upon binding calcium ionsthat results in a loss of phospholipid asymmetry in the plasmamembrane. May play a central role in the initiation of fibrin clotformation, in the activation of mast cells and in the recognitionof apoptotic and injured cells by the reticuloendothelial system. May play a role in the antiviral response of interferon(IFN) by amplifying and enhancing the IFN response throughincreased expression of select subset of potent antiviral genes.May contribute to cytokine-regulated cell proliferation anddifferentiation. |
| 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 ITGB4_PLSCR1 |
| 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 ITGB4_PLSCR1 |
| 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 ITGB4_PLSCR1 |
| 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 ITGB4_PLSCR1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ITGB4 | C1856934 | Epidermolysis bullosa with pyloric atresia | 9 | CTD_human;ORPHANET;UNIPROT |
| Hgene | ITGB4 | C0266159 | Pyloric Atresia | 2 | CTD_human |
| Hgene | ITGB4 | C0000786 | Spontaneous abortion | 1 | CTD_human |
| Hgene | ITGB4 | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| Hgene | ITGB4 | C0013575 | Ectodermal Dysplasia | 1 | CTD_human |
| Hgene | ITGB4 | C0014527 | Epidermolysis Bullosa | 1 | CTD_human |
| Hgene | ITGB4 | C0017639 | Gliosis | 1 | CTD_human |
| Hgene | ITGB4 | C0036095 | Salivary Gland Neoplasms | 1 | CTD_human |
| Hgene | ITGB4 | C0079301 | Junctional Epidermolysis Bullosa | 1 | CTD_human |
| Hgene | ITGB4 | C0268374 | Adult junctional epidermolysis bullosa (disorder) | 1 | CTD_human;ORPHANET;UNIPROT |
| Tgene | PLSCR1 | C0021400 | Influenza | 1 | CTD_human |
| Tgene | PLSCR1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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