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Fusion Protein:HOXB3-FAP |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: HOXB3-FAP | FusionPDB ID: 37427 | FusionGDB2.0 ID: 37427 | Hgene | Tgene | Gene symbol | HOXB3 | FAP | Gene ID | 3213 | 11146 |
| Gene name | homeobox B3 | glomulin, FKBP associated protein | |
| Synonyms | HOX2|HOX2G|Hox-2.7 | FAP|FAP48|FAP68|FKBPAP|GLML|GVM|VMGLOM | |
| Cytomap | 17q21.32 | 1p22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | homeobox protein Hox-B3homeo box 2Ghomeobox protein Hox-2.7homeobox protein Hox-2G | glomulinFK506-binding protein-associated proteinFKBP-associated protein | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | P14651 | Q12884 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000465120, ENST00000490677, ENST00000311626, ENST00000460160, ENST00000485909, ENST00000489475, ENST00000498678, ENST00000470495, ENST00000472863, ENST00000476342, ENST00000552000, | ENST00000493182, ENST00000188790, ENST00000443424, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 9 X 6 X 6=324 | 3 X 4 X 3=36 |
| # samples | 10 | 3 | |
| ** MAII score | log2(10/324*10)=-1.6959938131099 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/36*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: HOXB3 [Title/Abstract] AND FAP [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | HOXB3(46651199)-FAP(163046264), # samples:1 HOXB3(46651199)-FAP(163044873), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | HOXB3-FAP 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. HOXB3-FAP 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. HOXB3-FAP seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF. HOXB3-FAP seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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 |
| Hgene | HOXB3 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 9556594 |
| Tgene | FAP | GO:0007166 | cell surface receptor signaling pathway | 12604780 |
| Tgene | FAP | GO:0008285 | negative regulation of cell proliferation | 12604780 |
| Tgene | FAP | GO:0042130 | negative regulation of T cell proliferation | 12604780 |
| Tgene | FAP | GO:0042327 | positive regulation of phosphorylation | 11571281 |
| Tgene | FAP | GO:0045086 | positive regulation of interleukin-2 biosynthetic process | 12604780 |
| Fusion gene breakpoints across HOXB3 (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 FAP (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 | UCEC | TCGA-B5-A5OD-01A | HOXB3 | chr17 | 46651199 | - | FAP | chr2 | 163044873 | - |
| ChimerDB4 | UCEC | TCGA-B5-A5OD-01A | HOXB3 | chr17 | 46651199 | - | FAP | chr2 | 163046264 | - |
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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) |
| ENST00000465120 | HOXB3 | chr17 | 46651199 | - | ENST00000188790 | FAP | chr2 | 163044873 | - | 1252 | 299 | 231 | 962 | 243 |
| ENST00000465120 | HOXB3 | chr17 | 46651199 | - | ENST00000443424 | FAP | chr2 | 163044873 | - | 1224 | 299 | 231 | 962 | 243 |
| 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 |
| ENST00000465120 | ENST00000188790 | HOXB3 | chr17 | 46651199 | - | FAP | chr2 | 163044873 | - | 0.000744289 | 0.9992557 |
| ENST00000465120 | ENST00000443424 | HOXB3 | chr17 | 46651199 | - | FAP | chr2 | 163044873 | - | 0.000765931 | 0.9992341 |
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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 >37427_37427_1_HOXB3-FAP_HOXB3_chr17_46651199_ENST00000465120_FAP_chr2_163044873_ENST00000188790_length(amino acids)=243AA_BP=22 MEEALRHEWDLQSSGERRREAQRYGGPCSQSVRSVFAVNWISYLASKEGMVIALVDGRGTAFQGDKLLYAVYRKLGVYEVEDQITAVRKF IEMGFIDEKRIAIWGWSYGGYVSSLALASGTGLFKCGIAVAPVSSWEYYASVYTERFMGLPTKDDNLEHYKNSTVMARAEYFRNVDYLLI -------------------------------------------------------------- >37427_37427_2_HOXB3-FAP_HOXB3_chr17_46651199_ENST00000465120_FAP_chr2_163044873_ENST00000443424_length(amino acids)=243AA_BP=22 MEEALRHEWDLQSSGERRREAQRYGGPCSQSVRSVFAVNWISYLASKEGMVIALVDGRGTAFQGDKLLYAVYRKLGVYEVEDQITAVRKF IEMGFIDEKRIAIWGWSYGGYVSSLALASGTGLFKCGIAVAPVSSWEYYASVYTERFMGLPTKDDNLEHYKNSTVMARAEYFRNVDYLLI -------------------------------------------------------------- |
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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/chr17:46651199/chr2:163046264) - 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 |
| HOXB3 | FAP |
| FUNCTION: Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. | FUNCTION: Cell surface glycoprotein serine protease that participates in extracellular matrix degradation and involved in many cellular processes including tissue remodeling, fibrosis, wound healing, inflammation and tumor growth. Both plasma membrane and soluble forms exhibit post-proline cleaving endopeptidase activity, with a marked preference for Ala/Ser-Gly-Pro-Ser/Asn/Ala consensus sequences, on substrate such as alpha-2-antiplasmin SERPINF2 and SPRY2 (PubMed:14751930, PubMed:16223769, PubMed:16480718, PubMed:16410248, PubMed:17381073, PubMed:18095711, PubMed:21288888, PubMed:24371721). Degrade also gelatin, heat-denatured type I collagen, but not native collagen type I and IV, vibronectin, tenascin, laminin, fibronectin, fibrin or casein (PubMed:9065413, PubMed:2172980, PubMed:7923219, PubMed:10347120, PubMed:10455171, PubMed:12376466, PubMed:16223769, PubMed:16651416, PubMed:18095711). Also has dipeptidyl peptidase activity, exhibiting the ability to hydrolyze the prolyl bond two residues from the N-terminus of synthetic dipeptide substrates provided that the penultimate residue is proline, with a preference for Ala-Pro, Ile-Pro, Gly-Pro, Arg-Pro and Pro-Pro (PubMed:10347120, PubMed:10593948, PubMed:16175601, PubMed:16223769, PubMed:16651416, PubMed:16410248, PubMed:17381073, PubMed:21314817, PubMed:24371721, PubMed:24717288). Natural neuropeptide hormones for dipeptidyl peptidase are the neuropeptide Y (NPY), peptide YY (PYY), substance P (TAC1) and brain natriuretic peptide 32 (NPPB) (PubMed:21314817). The plasma membrane form, in association with either DPP4, PLAUR or integrins, is involved in the pericellular proteolysis of the extracellular matrix (ECM), and hence promotes cell adhesion, migration and invasion through the ECM. Plays a role in tissue remodeling during development and wound healing. Participates in the cell invasiveness towards the ECM in malignant melanoma cancers. Enhances tumor growth progression by increasing angiogenesis, collagen fiber degradation and apoptosis and by reducing antitumor response of the immune system. Promotes glioma cell invasion through the brain parenchyma by degrading the proteoglycan brevican. Acts as a tumor suppressor in melanocytic cells through regulation of cell proliferation and survival in a serine protease activity-independent manner. {ECO:0000250|UniProtKB:P97321, ECO:0000269|PubMed:10347120, ECO:0000269|PubMed:10455171, ECO:0000269|PubMed:10593948, ECO:0000269|PubMed:12376466, ECO:0000269|PubMed:14751930, ECO:0000269|PubMed:16175601, ECO:0000269|PubMed:16223769, ECO:0000269|PubMed:16410248, ECO:0000269|PubMed:16480718, ECO:0000269|PubMed:16651416, ECO:0000269|PubMed:17105646, ECO:0000269|PubMed:17381073, ECO:0000269|PubMed:18095711, ECO:0000269|PubMed:20707604, ECO:0000269|PubMed:21288888, ECO:0000269|PubMed:21314817, ECO:0000269|PubMed:2172980, ECO:0000269|PubMed:24371721, ECO:0000269|PubMed:24717288, ECO:0000269|PubMed:7923219, ECO:0000269|PubMed:9065413}. |
| 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 | HOXB3 | chr17:46651199 | chr2:163044873 | ENST00000311626 | - | 1 | 4 | 154_178 | 0 | 432.0 | Compositional bias | Note=Gly-rich |
| Hgene | HOXB3 | chr17:46651199 | chr2:163044873 | ENST00000470495 | - | 1 | 2 | 154_178 | 0 | 432.0 | Compositional bias | Note=Gly-rich |
| Hgene | HOXB3 | chr17:46651199 | chr2:163044873 | ENST00000476342 | - | 1 | 3 | 154_178 | 0 | 432.0 | Compositional bias | Note=Gly-rich |
| Hgene | HOXB3 | chr17:46651199 | chr2:163044873 | ENST00000498678 | - | 2 | 5 | 154_178 | 0 | 432.0 | Compositional bias | Note=Gly-rich |
| Hgene | HOXB3 | chr17:46651199 | chr2:163044873 | ENST00000311626 | - | 1 | 4 | 188_247 | 0 | 432.0 | DNA binding | Homeobox |
| Hgene | HOXB3 | chr17:46651199 | chr2:163044873 | ENST00000470495 | - | 1 | 2 | 188_247 | 0 | 432.0 | DNA binding | Homeobox |
| Hgene | HOXB3 | chr17:46651199 | chr2:163044873 | ENST00000476342 | - | 1 | 3 | 188_247 | 0 | 432.0 | DNA binding | Homeobox |
| Hgene | HOXB3 | chr17:46651199 | chr2:163044873 | ENST00000498678 | - | 2 | 5 | 188_247 | 0 | 432.0 | DNA binding | Homeobox |
| Hgene | HOXB3 | chr17:46651199 | chr2:163044873 | ENST00000311626 | - | 1 | 4 | 129_134 | 0 | 432.0 | Motif | Note=Antp-type hexapeptide |
| Hgene | HOXB3 | chr17:46651199 | chr2:163044873 | ENST00000470495 | - | 1 | 2 | 129_134 | 0 | 432.0 | Motif | Note=Antp-type hexapeptide |
| Hgene | HOXB3 | chr17:46651199 | chr2:163044873 | ENST00000476342 | - | 1 | 3 | 129_134 | 0 | 432.0 | Motif | Note=Antp-type hexapeptide |
| Hgene | HOXB3 | chr17:46651199 | chr2:163044873 | ENST00000498678 | - | 2 | 5 | 129_134 | 0 | 432.0 | Motif | Note=Antp-type hexapeptide |
| Tgene | FAP | chr17:46651199 | chr2:163044873 | ENST00000188790 | 18 | 26 | 1_4 | 539.6666666666666 | 761.0 | Topological domain | Cytoplasmic | |
| Tgene | FAP | chr17:46651199 | chr2:163044873 | ENST00000188790 | 18 | 26 | 26_760 | 539.6666666666666 | 761.0 | Topological domain | Extracellular | |
| Tgene | FAP | chr17:46651199 | chr2:163044873 | ENST00000188790 | 18 | 26 | 5_25 | 539.6666666666666 | 761.0 | Transmembrane | Helical%3B Signal-anchor for type II membrane protein |
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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 |
| HOXB3 | |
| FAP |
| - 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 HOXB3-FAP |
| 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 HOXB3-FAP |
| 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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