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Fusion Protein:HSPG2-IRF8 |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: HSPG2-IRF8 | FusionPDB ID: 38022 | FusionGDB2.0 ID: 38022 | Hgene | Tgene | Gene symbol | HSPG2 | IRF8 | Gene ID | 3339 | 3394 |
| Gene name | heparan sulfate proteoglycan 2 | interferon regulatory factor 8 | |
| Synonyms | HSPG|PLC|PRCAN|SJA|SJS|SJS1 | H-ICSBP|ICSBP|ICSBP1|IMD32A|IMD32B|IRF-8 | |
| Cytomap | 1p36.12 | 16q24.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | basement membrane-specific heparan sulfate proteoglycan core proteinendorepellin (domain V region)perlecan proteoglycan | interferon regulatory factor 8interferon consensus sequence binding protein 1 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | P98160 | Q02556 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000374695, ENST00000430507, ENST00000486901, | ENST00000562492, ENST00000563180, ENST00000268638, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 22 X 23 X 12=6072 | 4 X 3 X 4=48 |
| # samples | 25 | 4 | |
| ** MAII score | log2(25/6072*10)=-4.60217179075338 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: HSPG2 [Title/Abstract] AND IRF8 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | HSPG2(22263648)-IRF8(85942596), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | HSPG2-IRF8 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. HSPG2-IRF8 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. HSPG2-IRF8 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. HSPG2-IRF8 seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF. HSPG2-IRF8 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF. | ||
| * 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 | IRF8 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 1460054|25122610 |
| Tgene | IRF8 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 25122610 |
| Tgene | IRF8 | GO:0071346 | cellular response to interferon-gamma | 25122610 |
| Fusion gene breakpoints across HSPG2 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Fusion gene breakpoints across IRF8 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
| Fusion gene information from FusionGDB2.0. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | STAD | TCGA-CD-5799-01A | HSPG2 | chr1 | 22263648 | - | IRF8 | chr16 | 85942596 | + |
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Fusion ORF Analysis |
| Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| ENST00000374695 | HSPG2 | chr1 | 22263648 | - | ENST00000268638 | IRF8 | chr16 | 85942596 | + | 2577 | 143 | 17 | 1249 | 410 |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
| ENST00000374695 | ENST00000268638 | HSPG2 | chr1 | 22263648 | - | IRF8 | chr16 | 85942596 | + | 0.000614278 | 0.9993857 |
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Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >38022_38022_1_HSPG2-IRF8_HSPG2_chr1_22263648_ENST00000374695_IRF8_chr16_85942596_ENST00000268638_length(amino acids)=410AA_BP=40 MRAARSGRRGASERESGAGRAMGWRAAGALLLALLLHGRLLAAWAVFKGKFKEGDKAEPATWKTRLRCALNKSPDFEEVTDRSQLDISEP YKVYRIVPEEEQKCKLGVATAGCVNEVTEMECGRSEIDELIKEPSVDDYMGMIKRSPSPPEACRSQLLPDWWAQQPSTGVPLVTGYTTYD AHHSAFSQMVISFYYGGKLVGQATTTCPEGCRLSLSQPGLPGTKLYGPEGLELVRFPPADAIPSERQRQVTRKLFGHLERGVLLHSSRQG VFVKRLCQGRVFCSGNAVVCKGRPNKLERDEVVQVFDTSQFFRELQQFYNSQGRLPDGRVVLCFGEEFPDMAPLRSKLILVQIEQLYVRQ -------------------------------------------------------------- |
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Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr1:22263648/chr16:85942596) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HSPG2 | IRF8 |
| FUNCTION: Integral component of basement membranes. Component of the glomerular basement membrane (GBM), responsible for the fixed negative electrostatic membrane charge, and which provides a barrier which is both size- and charge-selective. It serves as an attachment substrate for cells. Plays essential roles in vascularization. Critical for normal heart development and for regulating the vascular response to injury. Also required for avascular cartilage development.; FUNCTION: Endorepellin in an anti-angiogenic and anti-tumor peptide that inhibits endothelial cell migration, collagen-induced endothelial tube morphogenesis and blood vessel growth in the chorioallantoic membrane. Blocks endothelial cell adhesion to fibronectin and type I collagen. Anti-tumor agent in neovascularization. Interaction with its ligand, integrin alpha2/beta1, is required for the anti-angiogenic properties. Evokes a reduction in phosphorylation of receptor tyrosine kinases via alpha2/beta1 integrin-mediated activation of the tyrosine phosphatase, PTPN6.; FUNCTION: The LG3 peptide has anti-angiogenic properties that require binding of calcium ions for full activity. | FUNCTION: Transcription factor that specifically binds to the upstream regulatory region of type I interferon (IFN) and IFN-inducible MHC class I genes (the interferon consensus sequence (ICS)) (PubMed:25122610). Can both act as a transcriptional activator or repressor (By similarity). Plays a negative regulatory role in cells of the immune system (By similarity). Involved in CD8(+) dendritic cell differentiation by forming a complex with the BATF-JUNB heterodimer in immune cells, leading to recognition of AICE sequence (5'-TGAnTCA/GAAA-3'), an immune-specific regulatory element, followed by cooperative binding of BATF and IRF8 and activation of genes (By similarity). Required for the development of plasmacytoid dendritic cells (pDCs), which produce most of the type I IFN in response to viral infection (By similarity). Positively regulates macroautophagy in dendritic cells (PubMed:29434592). {ECO:0000250|UniProtKB:P23611, ECO:0000269|PubMed:25122610, ECO:0000269|PubMed:29434592}. |
| 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. |
| - 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 |
| - 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 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 1126_1158 | 21.0 | 4392.0 | Domain | Laminin EGF-like 5%3B second part |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 1159_1208 | 21.0 | 4392.0 | Domain | Laminin EGF-like 6 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 1209_1265 | 21.0 | 4392.0 | Domain | Laminin EGF-like 7 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 1275_1324 | 21.0 | 4392.0 | Domain | Laminin EGF-like 8 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 1325_1334 | 21.0 | 4392.0 | Domain | Laminin EGF-like 9%3B first part |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 1344_1529 | 21.0 | 4392.0 | Domain | Laminin IV type A 3 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 1530_1562 | 21.0 | 4392.0 | Domain | Laminin EGF-like 9%3B second part |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 1563_1612 | 21.0 | 4392.0 | Domain | Laminin EGF-like 10 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 1613_1670 | 21.0 | 4392.0 | Domain | Laminin EGF-like 11 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 1677_1771 | 21.0 | 4392.0 | Domain | Note=Ig-like C2-type 2 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 1772_1865 | 21.0 | 4392.0 | Domain | Note=Ig-like C2-type 3 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 1866_1955 | 21.0 | 4392.0 | Domain | Note=Ig-like C2-type 4 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 1956_2051 | 21.0 | 4392.0 | Domain | Note=Ig-like C2-type 5 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 198_235 | 21.0 | 4392.0 | Domain | LDL-receptor class A 1 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 2052_2151 | 21.0 | 4392.0 | Domain | Note=Ig-like C2-type 6 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 2152_2244 | 21.0 | 4392.0 | Domain | Note=Ig-like C2-type 7 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 2245_2340 | 21.0 | 4392.0 | Domain | Note=Ig-like C2-type 8 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 2341_2436 | 21.0 | 4392.0 | Domain | Note=Ig-like C2-type 9 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 2437_2533 | 21.0 | 4392.0 | Domain | Note=Ig-like C2-type 10 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 2534_2629 | 21.0 | 4392.0 | Domain | Note=Ig-like C2-type 11 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 2630_2726 | 21.0 | 4392.0 | Domain | Note=Ig-like C2-type 12 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 2727_2826 | 21.0 | 4392.0 | Domain | Note=Ig-like C2-type 13 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 2827_2924 | 21.0 | 4392.0 | Domain | Note=Ig-like C2-type 14 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 284_320 | 21.0 | 4392.0 | Domain | LDL-receptor class A 2 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 2925_3021 | 21.0 | 4392.0 | Domain | Note=Ig-like C2-type 15 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 3022_3112 | 21.0 | 4392.0 | Domain | Note=Ig-like C2-type 16 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 3113_3211 | 21.0 | 4392.0 | Domain | Note=Ig-like C2-type 17 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 3212_3298 | 21.0 | 4392.0 | Domain | Note=Ig-like C2-type 18 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 324_360 | 21.0 | 4392.0 | Domain | LDL-receptor class A 3 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 3299_3399 | 21.0 | 4392.0 | Domain | Note=Ig-like C2-type 19 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 3400_3488 | 21.0 | 4392.0 | Domain | Note=Ig-like C2-type 20 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 3489_3574 | 21.0 | 4392.0 | Domain | Note=Ig-like C2-type 21 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 3575_3662 | 21.0 | 4392.0 | Domain | Note=Ig-like C2-type 22 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 3663_3843 | 21.0 | 4392.0 | Domain | Laminin G-like 1 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 367_404 | 21.0 | 4392.0 | Domain | LDL-receptor class A 4 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 3844_3881 | 21.0 | 4392.0 | Domain | EGF-like 1 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 3884_3922 | 21.0 | 4392.0 | Domain | EGF-like 2 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 3928_4103 | 21.0 | 4392.0 | Domain | Laminin G-like 2 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 405_504 | 21.0 | 4392.0 | Domain | Note=Ig-like C2-type 1 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 4104_4141 | 21.0 | 4392.0 | Domain | EGF-like 3 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 4143_4176 | 21.0 | 4392.0 | Domain | EGF-like 4 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 4201_4389 | 21.0 | 4392.0 | Domain | Laminin G-like 3 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 521_530 | 21.0 | 4392.0 | Domain | Laminin EGF-like 1%3B first part |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 538_730 | 21.0 | 4392.0 | Domain | Laminin IV type A 1 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 731_763 | 21.0 | 4392.0 | Domain | Laminin EGF-like 1%3B second part |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 764_813 | 21.0 | 4392.0 | Domain | Laminin EGF-like 2 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 80_191 | 21.0 | 4392.0 | Domain | SEA |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 814_871 | 21.0 | 4392.0 | Domain | Laminin EGF-like 3 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 879_923 | 21.0 | 4392.0 | Domain | Laminin EGF-like 4%3B truncated |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 924_933 | 21.0 | 4392.0 | Domain | Laminin EGF-like 5%3B first part |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 941_1125 | 21.0 | 4392.0 | Domain | Laminin IV type A 2 |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 4149_4151 | 21.0 | 4392.0 | Region | Mediates motor neuron attachment |
| Hgene | HSPG2 | chr1:22263648 | chr16:85942596 | ENST00000374695 | - | 1 | 97 | 4299_4301 | 21.0 | 4392.0 | Region | Mediates motor neuron attachment |
| Tgene | IRF8 | chr1:22263648 | chr16:85942596 | ENST00000268638 | 1 | 9 | 7_114 | 58.0 | 427.0 | DNA binding | IRF tryptophan pentad repeat |
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Fusion Protein-Protein Interaction |
| 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 from validated records (BIOGRID-3.4.160) |
| Gene | PPI interactors |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| HSPG2 | |
| IRF8 |
| - Retained interactions in fusion protein (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost interactions due to fusion (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to HSPG2-IRF8 |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to HSPG2-IRF8 |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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