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Fusion Protein:ITGA5-MMP9 |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: ITGA5-MMP9 | FusionPDB ID: 40436 | FusionGDB2.0 ID: 40436 | Hgene | Tgene | Gene symbol | ITGA5 | MMP9 | Gene ID | 3678 | 4318 |
| Gene name | integrin subunit alpha 5 | matrix metallopeptidase 9 | |
| Synonyms | CD49e|FNRA|VLA-5|VLA5A | CLG4B|GELB|MANDP2|MMP-9 | |
| Cytomap | 12q13.13 | 20q13.12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | integrin alpha-5CD49 antigen-like family member EITGA5/SLC9B1 fusionfibronectin receptor subunit alphafibronectin receptor, alpha polypeptidefibronectin receptor, alpha subunitintegrin alpha-Fintegrin, alpha 5 (fibronectin receptor, alpha polypepti | matrix metalloproteinase-9macrophage gelatinasematrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)type V collagenase | |
| Modification date | 20200329 | 20200329 | |
| UniProtAcc | P08648 | P14780 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000293379, ENST00000547744, | ENST00000372330, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 3 X 4 X 4=48 | 5 X 4 X 4=80 |
| # samples | 4 | 5 | |
| ** MAII score | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: ITGA5 [Title/Abstract] AND MMP9 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ITGA5(54805618)-MMP9(44642763), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | ITGA5-MMP9 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. ITGA5-MMP9 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. | ||
| * 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 | ITGA5 | GO:0007155 | cell adhesion | 19703720 |
| Hgene | ITGA5 | GO:0007229 | integrin-mediated signaling pathway | 31331973 |
| Hgene | ITGA5 | GO:0023035 | CD40 signaling pathway | 31331973 |
| Hgene | ITGA5 | GO:0033627 | cell adhesion mediated by integrin | 12807887|17158881 |
| Tgene | MMP9 | GO:0006508 | proteolysis | 2551898|15863497|19022250|24164424 |
| Tgene | MMP9 | GO:0034614 | cellular response to reactive oxygen species | 26514923 |
| Tgene | MMP9 | GO:0043388 | positive regulation of DNA binding | 22984561 |
| Tgene | MMP9 | GO:0071276 | cellular response to cadmium ion | 26514923 |
| Tgene | MMP9 | GO:1900122 | positive regulation of receptor binding | 24164424 |
| Tgene | MMP9 | GO:2001258 | negative regulation of cation channel activity | 24164424 |
| Fusion gene breakpoints across ITGA5 (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 MMP9 (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 | SARC | TCGA-HB-A2OT-01A | ITGA5 | chr12 | 54805618 | - | MMP9 | chr20 | 44642763 | + |
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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) |
| ENST00000293379 | ITGA5 | chr12 | 54805618 | - | ENST00000372330 | MMP9 | chr20 | 44642763 | + | 1178 | 611 | 115 | 984 | 289 |
| 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 |
| ENST00000293379 | ENST00000372330 | ITGA5 | chr12 | 54805618 | - | MMP9 | chr20 | 44642763 | + | 0.40632367 | 0.5936764 |
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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 >40436_40436_1_ITGA5-MMP9_ITGA5_chr12_54805618_ENST00000293379_MMP9_chr20_44642763_ENST00000372330_length(amino acids)=289AA_BP=165 MPPRQPPRQAGGGLSREFGKLLPALSHSPLGGLGSGSGSVAPGQGRAGAMGSRTPESPLHAVQLRWGPRRRPPLLPLLLLLLPPPPRVGG FNLDAEAPAVLSGPPGSFFGFSVEFYRPGTDGVSVLVGAPKANTSQPGVLQGGAVYLCPWGASPTQCTPIEFDSKGRQVWVYTGASVLGP RRLDKLGLGADVAQVTGALRSGRGKMLLFSGRRLWRFDVKAQMVDPRSASEVDRMFPGVPLDTHDVFQYREKAYFCQDRFYWRVSSRSEL -------------------------------------------------------------- |
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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/chr12:54805618/chr20:44642763) - 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 |
| ITGA5 | MMP9 |
| FUNCTION: Integrin alpha-5/beta-1 (ITGA5:ITGB1) is a receptor for fibronectin and fibrinogen. It recognizes the sequence R-G-D in its ligands. ITGA5:ITGB1 binds to PLA2G2A via a site (site 2) which is distinct from the classical ligand-binding site (site 1) and this induces integrin conformational changes and enhanced ligand binding to site 1 (PubMed:18635536, PubMed:25398877). ITGA5:ITGB1 acts as a receptor for fibrillin-1 (FBN1) and mediates R-G-D-dependent cell adhesion to FBN1 (PubMed:12807887, PubMed:17158881). ITGA5:ITGB1 is a receptor for IL1B and binding is essential for IL1B signaling (PubMed:29030430). ITGA5:ITGB3 is a receptor for soluble CD40LG and is required for CD40/CD40LG signaling (PubMed:31331973). {ECO:0000269|PubMed:12807887, ECO:0000269|PubMed:17158881, ECO:0000269|PubMed:18635536, ECO:0000269|PubMed:25398877, ECO:0000269|PubMed:29030430, ECO:0000269|PubMed:31331973}.; FUNCTION: (Microbial infection) Integrin ITGA5:ITGB1 acts as a receptor for Human metapneumovirus. {ECO:0000269|PubMed:12907437}.; FUNCTION: (Microbial infection) Integrin ITGA2:ITGB1 acts as a receptor for Human parvovirus B19. {ECO:0000269|PubMed:24478423}.; FUNCTION: (Microbial infection) In case of HIV-1 infection, the interaction with extracellular viral Tat protein seems to enhance angiogenesis in Kaposi's sarcoma lesions. {ECO:0000269|PubMed:10397733}. | FUNCTION: May play an essential role in local proteolysis of the extracellular matrix and in leukocyte migration. Could play a role in bone osteoclastic resorption. Cleaves KiSS1 at a Gly-|-Leu bond. Cleaves type IV and type V collagen into large C-terminal three quarter fragments and shorter N-terminal one quarter fragments. Degrades fibronectin but not laminin or Pz-peptide. {ECO:0000269|PubMed:1480034}. |
| 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 |
| Hgene | ITGA5 | chr12:54805618 | chr20:44642763 | ENST00000293379 | - | 2 | 30 | 43_108 | 116.33333333333333 | 1050.0 | Repeat | FG-GAP 1 |
| Tgene | MMP9 | chr12:54805618 | chr20:44642763 | ENST00000372330 | 9 | 13 | 610_657 | 583.3333333333334 | 708.0 | Repeat | Note=Hemopexin 3 | |
| Tgene | MMP9 | chr12:54805618 | chr20:44642763 | ENST00000372330 | 9 | 13 | 658_704 | 583.3333333333334 | 708.0 | Repeat | Note=Hemopexin 4 |
| - 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 | ITGA5 | chr12:54805618 | chr20:44642763 | ENST00000293379 | - | 2 | 30 | 280_288 | 116.33333333333333 | 1050.0 | Calcium binding | . |
| Hgene | ITGA5 | chr12:54805618 | chr20:44642763 | ENST00000293379 | - | 2 | 30 | 334_342 | 116.33333333333333 | 1050.0 | Calcium binding | . |
| Hgene | ITGA5 | chr12:54805618 | chr20:44642763 | ENST00000293379 | - | 2 | 30 | 401_409 | 116.33333333333333 | 1050.0 | Calcium binding | . |
| Hgene | ITGA5 | chr12:54805618 | chr20:44642763 | ENST00000293379 | - | 2 | 30 | 465_473 | 116.33333333333333 | 1050.0 | Calcium binding | . |
| Hgene | ITGA5 | chr12:54805618 | chr20:44642763 | ENST00000293379 | - | 2 | 30 | 1024_1028 | 116.33333333333333 | 1050.0 | Motif | Note=GFFKR motif |
| Hgene | ITGA5 | chr12:54805618 | chr20:44642763 | ENST00000293379 | - | 2 | 30 | 128_188 | 116.33333333333333 | 1050.0 | Repeat | FG-GAP 2 |
| Hgene | ITGA5 | chr12:54805618 | chr20:44642763 | ENST00000293379 | - | 2 | 30 | 192_245 | 116.33333333333333 | 1050.0 | Repeat | FG-GAP 3 |
| Hgene | ITGA5 | chr12:54805618 | chr20:44642763 | ENST00000293379 | - | 2 | 30 | 259_311 | 116.33333333333333 | 1050.0 | Repeat | FG-GAP 4 |
| Hgene | ITGA5 | chr12:54805618 | chr20:44642763 | ENST00000293379 | - | 2 | 30 | 312_377 | 116.33333333333333 | 1050.0 | Repeat | FG-GAP 5 |
| Hgene | ITGA5 | chr12:54805618 | chr20:44642763 | ENST00000293379 | - | 2 | 30 | 378_437 | 116.33333333333333 | 1050.0 | Repeat | FG-GAP 6 |
| Hgene | ITGA5 | chr12:54805618 | chr20:44642763 | ENST00000293379 | - | 2 | 30 | 441_504 | 116.33333333333333 | 1050.0 | Repeat | FG-GAP 7 |
| Hgene | ITGA5 | chr12:54805618 | chr20:44642763 | ENST00000293379 | - | 2 | 30 | 1022_1049 | 116.33333333333333 | 1050.0 | Topological domain | Cytoplasmic |
| Hgene | ITGA5 | chr12:54805618 | chr20:44642763 | ENST00000293379 | - | 2 | 30 | 42_995 | 116.33333333333333 | 1050.0 | Topological domain | Extracellular |
| Hgene | ITGA5 | chr12:54805618 | chr20:44642763 | ENST00000293379 | - | 2 | 30 | 996_1021 | 116.33333333333333 | 1050.0 | Transmembrane | Helical |
| Tgene | MMP9 | chr12:54805618 | chr20:44642763 | ENST00000372330 | 9 | 13 | 225_273 | 583.3333333333334 | 708.0 | Domain | Fibronectin type-II 1 | |
| Tgene | MMP9 | chr12:54805618 | chr20:44642763 | ENST00000372330 | 9 | 13 | 283_331 | 583.3333333333334 | 708.0 | Domain | Fibronectin type-II 2 | |
| Tgene | MMP9 | chr12:54805618 | chr20:44642763 | ENST00000372330 | 9 | 13 | 342_390 | 583.3333333333334 | 708.0 | Domain | Fibronectin type-II 3 | |
| Tgene | MMP9 | chr12:54805618 | chr20:44642763 | ENST00000372330 | 9 | 13 | 97_104 | 583.3333333333334 | 708.0 | Motif | Cysteine switch | |
| Tgene | MMP9 | chr12:54805618 | chr20:44642763 | ENST00000372330 | 9 | 13 | 518_563 | 583.3333333333334 | 708.0 | Repeat | Note=Hemopexin 1 | |
| Tgene | MMP9 | chr12:54805618 | chr20:44642763 | ENST00000372330 | 9 | 13 | 564_608 | 583.3333333333334 | 708.0 | Repeat | Note=Hemopexin 2 |
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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 |
| ITGA5 | |
| MMP9 |
| - 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 |
| Hgene | ITGA5 | chr12:54805618 | chr20:44642763 | ENST00000293379 | - | 2 | 30 | 1021_1028 | 116.33333333333333 | 1050.0 | HPS5 |
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Related Drugs to ITGA5-MMP9 |
| 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 ITGA5-MMP9 |
| 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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