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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:BAZ2B-FAP (FusionGDB2 ID:9058) |
Fusion Gene Summary for BAZ2B-FAP |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BAZ2B-FAP | Fusion gene ID: 9058 | Hgene | Tgene | Gene symbol | BAZ2B | FAP | Gene ID | 29994 | 11146 |
| Gene name | bromodomain adjacent to zinc finger domain 2B | glomulin, FKBP associated protein | |
| Synonyms | WALp4 | FAP|FAP48|FAP68|FKBPAP|GLML|GVM|VMGLOM | |
| Cytomap | 2q24.2 | 1p22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | bromodomain adjacent to zinc finger domain protein 2B | glomulinFK506-binding protein-associated proteinFKBP-associated protein | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q9UIF8 | Q12884 | |
| Ensembl transtripts involved in fusion gene | ENST00000343439, ENST00000355831, ENST00000392782, ENST00000392783, ENST00000483316, | ENST00000188790, ENST00000443424, ENST00000493182, | |
| Fusion gene scores | * DoF score | 19 X 14 X 12=3192 | 3 X 4 X 3=36 |
| # samples | 22 | 3 | |
| ** MAII score | log2(22/3192*10)=-3.85888522269769 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 | PubMed: BAZ2B [Title/Abstract] AND FAP [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | BAZ2B(160472753)-FAP(163099504), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | |||
| * 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 | 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 BAZ2B (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| 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. |
| 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 |
| ChiTaRS5.0 | N/A | DA795303 | BAZ2B | chr2 | 160472753 | - | FAP | chr2 | 163099504 | - |
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Fusion Gene ORF analysis for BAZ2B-FAP |
| 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 |
| 5UTR-3CDS | ENST00000343439 | ENST00000188790 | BAZ2B | chr2 | 160472753 | - | FAP | chr2 | 163099504 | - |
| 5UTR-3CDS | ENST00000343439 | ENST00000443424 | BAZ2B | chr2 | 160472753 | - | FAP | chr2 | 163099504 | - |
| 5UTR-3CDS | ENST00000355831 | ENST00000188790 | BAZ2B | chr2 | 160472753 | - | FAP | chr2 | 163099504 | - |
| 5UTR-3CDS | ENST00000355831 | ENST00000443424 | BAZ2B | chr2 | 160472753 | - | FAP | chr2 | 163099504 | - |
| 5UTR-3CDS | ENST00000392782 | ENST00000188790 | BAZ2B | chr2 | 160472753 | - | FAP | chr2 | 163099504 | - |
| 5UTR-3CDS | ENST00000392782 | ENST00000443424 | BAZ2B | chr2 | 160472753 | - | FAP | chr2 | 163099504 | - |
| 5UTR-3CDS | ENST00000392783 | ENST00000188790 | BAZ2B | chr2 | 160472753 | - | FAP | chr2 | 163099504 | - |
| 5UTR-3CDS | ENST00000392783 | ENST00000443424 | BAZ2B | chr2 | 160472753 | - | FAP | chr2 | 163099504 | - |
| 5UTR-3CDS | ENST00000483316 | ENST00000188790 | BAZ2B | chr2 | 160472753 | - | FAP | chr2 | 163099504 | - |
| 5UTR-3CDS | ENST00000483316 | ENST00000443424 | BAZ2B | chr2 | 160472753 | - | FAP | chr2 | 163099504 | - |
| 5UTR-intron | ENST00000343439 | ENST00000493182 | BAZ2B | chr2 | 160472753 | - | FAP | chr2 | 163099504 | - |
| 5UTR-intron | ENST00000355831 | ENST00000493182 | BAZ2B | chr2 | 160472753 | - | FAP | chr2 | 163099504 | - |
| 5UTR-intron | ENST00000392782 | ENST00000493182 | BAZ2B | chr2 | 160472753 | - | FAP | chr2 | 163099504 | - |
| 5UTR-intron | ENST00000392783 | ENST00000493182 | BAZ2B | chr2 | 160472753 | - | FAP | chr2 | 163099504 | - |
| 5UTR-intron | ENST00000483316 | ENST00000493182 | BAZ2B | chr2 | 160472753 | - | FAP | chr2 | 163099504 | - |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| 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) |
| 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 |
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Fusion Genomic Features for BAZ2B-FAP |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for BAZ2B-FAP |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:160472753/:163099504) - 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 |
| BAZ2B | FAP |
| FUNCTION: Chromatin reader protein, which may play a role in transcriptional regulation via interaction with ISWI (By similarity) (PubMed:10662543). Involved in positively modulating the rate of age-related behavioral deterioration (By similarity). Represses the expression of mitochondrial function-related genes, perhaps by occupying their promoter regions, working in concert with histone methyltransferase EHMT1 (By similarity). {ECO:0000250|UniProtKB:A2AUY4, ECO:0000303|PubMed:10662543}. | 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. |
| - 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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Fusion Gene Sequence for BAZ2B-FAP |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for BAZ2B-FAP |
| 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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Related Drugs for BAZ2B-FAP |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for BAZ2B-FAP |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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