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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:CEP89-CEACAM1 (FusionGDB2 ID:15925) |
Fusion Gene Summary for CEP89-CEACAM1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CEP89-CEACAM1 | Fusion gene ID: 15925 | Hgene | Tgene | Gene symbol | CEP89 | CEACAM1 | Gene ID | 84902 | 634 |
| Gene name | centrosomal protein 89 | CEA cell adhesion molecule 1 | |
| Synonyms | CCDC123|CEP123 | BGP|BGP1|BGPI | |
| Cytomap | 19q13.11 | 19q13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | centrosomal protein of 89 kDacentrosomal protein 123centrosomal protein 89kDacoiled-coil domain containing 123coiled-coil domain-containing protein 123, mitochondrial | carcinoembryonic antigen-related cell adhesion molecule 1CD66a antigenantigen CD66carcinoembryonic antigen related cell adhesion molecule 1carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q96ST8 | P13688 | |
| Ensembl transtripts involved in fusion gene | ENST00000305768, ENST00000590597, ENST00000591863, | ENST00000308072, ENST00000358394, ENST00000488639, ENST00000599389, ENST00000161559, ENST00000351134, ENST00000352591, ENST00000403444, ENST00000403461, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 3 X 2 X 3=18 |
| # samples | 3 | 3 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: CEP89 [Title/Abstract] AND CEACAM1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | CEP89(33406243)-CEACAM1(43016631), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | CEP89-CEACAM1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. CEP89-CEACAM1 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 | CEACAM1 | GO:0001915 | negative regulation of T cell mediated cytotoxicity | 18424730 |
| Tgene | CEACAM1 | GO:0030334 | regulation of cell migration | 16291724 |
| Tgene | CEACAM1 | GO:0043318 | negative regulation of cytotoxic T cell degranulation | 18424730 |
| Tgene | CEACAM1 | GO:0044319 | wound healing, spreading of cells | 16291724 |
| Tgene | CEACAM1 | GO:0050860 | negative regulation of T cell receptor signaling pathway | 18424730 |
| Fusion gene breakpoints across CEP89 (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 CEACAM1 (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 |
| ChimerDB4 | SARC | TCGA-DX-A8BN-01A | CEP89 | chr19 | 33406243 | - | CEACAM1 | chr19 | 43016631 | - |
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Fusion Gene ORF analysis for CEP89-CEACAM1 |
| 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 |
| 5CDS-intron | ENST00000305768 | ENST00000308072 | CEP89 | chr19 | 33406243 | - | CEACAM1 | chr19 | 43016631 | - |
| 5CDS-intron | ENST00000305768 | ENST00000358394 | CEP89 | chr19 | 33406243 | - | CEACAM1 | chr19 | 43016631 | - |
| 5CDS-intron | ENST00000305768 | ENST00000488639 | CEP89 | chr19 | 33406243 | - | CEACAM1 | chr19 | 43016631 | - |
| 5CDS-intron | ENST00000305768 | ENST00000599389 | CEP89 | chr19 | 33406243 | - | CEACAM1 | chr19 | 43016631 | - |
| Frame-shift | ENST00000305768 | ENST00000161559 | CEP89 | chr19 | 33406243 | - | CEACAM1 | chr19 | 43016631 | - |
| Frame-shift | ENST00000305768 | ENST00000351134 | CEP89 | chr19 | 33406243 | - | CEACAM1 | chr19 | 43016631 | - |
| Frame-shift | ENST00000305768 | ENST00000352591 | CEP89 | chr19 | 33406243 | - | CEACAM1 | chr19 | 43016631 | - |
| Frame-shift | ENST00000305768 | ENST00000403444 | CEP89 | chr19 | 33406243 | - | CEACAM1 | chr19 | 43016631 | - |
| Frame-shift | ENST00000305768 | ENST00000403461 | CEP89 | chr19 | 33406243 | - | CEACAM1 | chr19 | 43016631 | - |
| intron-3CDS | ENST00000590597 | ENST00000161559 | CEP89 | chr19 | 33406243 | - | CEACAM1 | chr19 | 43016631 | - |
| intron-3CDS | ENST00000590597 | ENST00000351134 | CEP89 | chr19 | 33406243 | - | CEACAM1 | chr19 | 43016631 | - |
| intron-3CDS | ENST00000590597 | ENST00000352591 | CEP89 | chr19 | 33406243 | - | CEACAM1 | chr19 | 43016631 | - |
| intron-3CDS | ENST00000590597 | ENST00000403444 | CEP89 | chr19 | 33406243 | - | CEACAM1 | chr19 | 43016631 | - |
| intron-3CDS | ENST00000590597 | ENST00000403461 | CEP89 | chr19 | 33406243 | - | CEACAM1 | chr19 | 43016631 | - |
| intron-3CDS | ENST00000591863 | ENST00000161559 | CEP89 | chr19 | 33406243 | - | CEACAM1 | chr19 | 43016631 | - |
| intron-3CDS | ENST00000591863 | ENST00000351134 | CEP89 | chr19 | 33406243 | - | CEACAM1 | chr19 | 43016631 | - |
| intron-3CDS | ENST00000591863 | ENST00000352591 | CEP89 | chr19 | 33406243 | - | CEACAM1 | chr19 | 43016631 | - |
| intron-3CDS | ENST00000591863 | ENST00000403444 | CEP89 | chr19 | 33406243 | - | CEACAM1 | chr19 | 43016631 | - |
| intron-3CDS | ENST00000591863 | ENST00000403461 | CEP89 | chr19 | 33406243 | - | CEACAM1 | chr19 | 43016631 | - |
| intron-intron | ENST00000590597 | ENST00000308072 | CEP89 | chr19 | 33406243 | - | CEACAM1 | chr19 | 43016631 | - |
| intron-intron | ENST00000590597 | ENST00000358394 | CEP89 | chr19 | 33406243 | - | CEACAM1 | chr19 | 43016631 | - |
| intron-intron | ENST00000590597 | ENST00000488639 | CEP89 | chr19 | 33406243 | - | CEACAM1 | chr19 | 43016631 | - |
| intron-intron | ENST00000590597 | ENST00000599389 | CEP89 | chr19 | 33406243 | - | CEACAM1 | chr19 | 43016631 | - |
| intron-intron | ENST00000591863 | ENST00000308072 | CEP89 | chr19 | 33406243 | - | CEACAM1 | chr19 | 43016631 | - |
| intron-intron | ENST00000591863 | ENST00000358394 | CEP89 | chr19 | 33406243 | - | CEACAM1 | chr19 | 43016631 | - |
| intron-intron | ENST00000591863 | ENST00000488639 | CEP89 | chr19 | 33406243 | - | CEACAM1 | chr19 | 43016631 | - |
| intron-intron | ENST00000591863 | ENST00000599389 | CEP89 | chr19 | 33406243 | - | CEACAM1 | chr19 | 43016631 | - |
| 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 CEP89-CEACAM1 |
| 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 CEP89-CEACAM1 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:33406243/:43016631) - 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 |
| CEP89 | CEACAM1 |
| FUNCTION: Required for ciliogenesis. Also plays a role in mitochondrial metabolism where it may modulate complex IV activity. {ECO:0000269|PubMed:23348840, ECO:0000269|PubMed:23575228}. | FUNCTION: [Isoform 1]: Cell adhesion protein that mediates homophilic cell adhesion in a calcium-independent manner (By similarity). Plays a role as coinhibitory receptor in immune response, insulin action and functions also as an activator during angiogenesis (PubMed:18424730, PubMed:23696226, PubMed:25363763). Its coinhibitory receptor function is phosphorylation- and PTPN6 -dependent, which in turn, suppress signal transduction of associated receptors by dephosphorylation of their downstream effectors. Plays a role in immune response, of T cells, natural killer (NK) and neutrophils (PubMed:18424730, PubMed:23696226). Upon TCR/CD3 complex stimulation, inhibits TCR-mediated cytotoxicity by blocking granule exocytosis by mediating homophilic binding to adjacent cells, allowing interaction with and phosphorylation by LCK and interaction with the TCR/CD3 complex which recruits PTPN6 resulting in dephosphorylation of CD247 and ZAP70 (PubMed:18424730). Also inhibits T cell proliferation and cytokine production through inhibition of JNK cascade and plays a crucial role in regulating autoimmunity and anti-tumor immunity by inhibiting T cell through its interaction with HAVCR2 (PubMed:25363763). Upon natural killer (NK) cells activation, inhibit KLRK1-mediated cytolysis of CEACAM1-bearing tumor cells by trans-homophilic interactions with CEACAM1 on the target cell and lead to cis-interaction between CEACAM1 and KLRK1, allowing PTPN6 recruitment and then VAV1 dephosphorylation (PubMed:23696226). Upon neutrophils activation negatively regulates IL1B production by recruiting PTPN6 to a SYK-TLR4-CEACAM1 complex, that dephosphorylates SYK, reducing the production of reactive oxygen species (ROS) and lysosome disruption, which in turn, reduces the activity of the inflammasome. Downregulates neutrophil production by acting as a coinhibitory receptor for CSF3R by downregulating the CSF3R-STAT3 pathway through recruitment of PTPN6 that dephosphorylates CSF3R (By similarity). Also regulates insulin action by promoting INS clearance and regulating lipogenesis in liver through regulating insulin signaling (By similarity). Upon INS stimulation, undergoes phosphorylation by INSR leading to INS clearance by increasing receptor-mediated insulin endocytosis. This inernalization promotes interaction with FASN leading to receptor-mediated insulin degradation and to reduction of FASN activity leading to negative regulation of fatty acid synthesis. INSR-mediated phosphorylation also provokes a down-regulation of cell proliferation through SHC1 interaction resulting in decrease coupling of SHC1 to the MAPK3/ERK1-MAPK1/ERK2 and phosphatidylinositol 3-kinase pathways (By similarity). Functions as activator in angiogenesis by promoting blood vessel remodeling through endothelial cell differentiation and migration and in arteriogenesis by increasing the number of collateral arteries and collateral vessel calibers after ischemia. Also regulates vascular permeability through the VEGFR2 signaling pathway resulting in control of nitric oxide production (By similarity). Downregulates cell growth in response to EGF through its interaction with SHC1 that mediates interaction with EGFR resulting in decrease coupling of SHC1 to the MAPK3/ERK1-MAPK1/ERK2 pathway (By similarity). Negatively regulates platelet aggregation by decreasing platelet adhesion on type I collagen through the GPVI-FcRgamma complex (By similarity). Inhibits cell migration and cell scattering through interaction with FLNA; interfers with the interaction of FLNA with RALA (PubMed:16291724). Mediates bile acid transport activity in a phosphorylation dependent manner (By similarity). Negatively regulates osteoclastogenesis (By similarity). {ECO:0000250|UniProtKB:P16573, ECO:0000250|UniProtKB:P31809, ECO:0000269|PubMed:16291724, ECO:0000269|PubMed:18424730, ECO:0000269|PubMed:23696226, ECO:0000269|PubMed:25363763}.; FUNCTION: [Isoform 8]: Cell adhesion protein that mediates homophilic cell adhesion in a calcium-independent manner (By similarity). Promotes populations of T cells regulating IgA production and secretion associated with control of the commensal microbiota and resistance to enteropathogens (By similarity). {ECO:0000250|UniProtKB:P16573, ECO:0000250|UniProtKB:P31809}. |
| 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 CEP89-CEACAM1 |
| 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 CEP89-CEACAM1 |
| 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 CEP89-CEACAM1 |
| 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 CEP89-CEACAM1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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