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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:CDH1-EFNB2 (FusionGDB2 ID:15022) |
Fusion Gene Summary for CDH1-EFNB2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CDH1-EFNB2 | Fusion gene ID: 15022 | Hgene | Tgene | Gene symbol | CDH1 | EFNB2 | Gene ID | 51343 | 1948 |
| Gene name | fizzy and cell division cycle 20 related 1 | ephrin B2 | |
| Synonyms | CDC20C|CDH1|FZR|FZR2|HCDH|HCDH1 | EPLG5|HTKL|Htk-L|LERK5 | |
| Cytomap | 19p13.3 | 13q33.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | fizzy-related protein homologCDC20 homolog 1CDC20-like 1bCDC20-like protein 1cdh1/Hct1 homologfizzy/cell division cycle 20 related 1 | ephrin-B2HTK ligandeph-related receptor tyrosine kinase ligand 5ligand of eph-related kinase 5 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | P12830 | P52799 | |
| Ensembl transtripts involved in fusion gene | ENST00000261769, ENST00000422392, ENST00000562836, | ENST00000245323, | |
| Fusion gene scores | * DoF score | 21 X 16 X 8=2688 | 3 X 4 X 1=12 |
| # samples | 29 | 4 | |
| ** MAII score | log2(29/2688*10)=-3.21240833276383 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/12*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: CDH1 [Title/Abstract] AND EFNB2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | CDH1(68861834)-EFNB2(107148179), # 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 |
| Hgene | CDH1 | GO:0031145 | anaphase-promoting complex-dependent catabolic process | 18662541|21596315 |
| Hgene | CDH1 | GO:0072425 | signal transduction involved in G2 DNA damage checkpoint | 18662541 |
| Hgene | CDH1 | GO:1904668 | positive regulation of ubiquitin protein ligase activity | 11459826 |
| Tgene | EFNB2 | GO:0002042 | cell migration involved in sprouting angiogenesis | 12734395 |
| Tgene | EFNB2 | GO:0007155 | cell adhesion | 12734395 |
| Tgene | EFNB2 | GO:0010977 | negative regulation of neuron projection development | 10066262 |
| Tgene | EFNB2 | GO:0048013 | ephrin receptor signaling pathway | 12734395 |
| Tgene | EFNB2 | GO:0050920 | regulation of chemotaxis | 12734395 |
| Tgene | EFNB2 | GO:1901216 | positive regulation of neuron death | 10066262 |
| Fusion gene breakpoints across CDH1 (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 EFNB2 (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 | BF819233 | CDH1 | chr16 | 68861834 | - | EFNB2 | chr13 | 107148179 | - |
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Fusion Gene ORF analysis for CDH1-EFNB2 |
| 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 |
| intron-3CDS | ENST00000261769 | ENST00000245323 | CDH1 | chr16 | 68861834 | - | EFNB2 | chr13 | 107148179 | - |
| intron-3CDS | ENST00000422392 | ENST00000245323 | CDH1 | chr16 | 68861834 | - | EFNB2 | chr13 | 107148179 | - |
| intron-3CDS | ENST00000562836 | ENST00000245323 | CDH1 | chr16 | 68861834 | - | EFNB2 | chr13 | 107148179 | - |
| 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 CDH1-EFNB2 |
| 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 CDH1-EFNB2 |
| Go to FGviewer for the breakpoints of :-: - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CDH1 | EFNB2 |
| FUNCTION: Cadherins are calcium-dependent cell adhesion proteins (PubMed:11976333). They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. CDH1 is involved in mechanisms regulating cell-cell adhesions, mobility and proliferation of epithelial cells (PubMed:11976333). Has a potent invasive suppressor role. It is a ligand for integrin alpha-E/beta-7. {ECO:0000269|PubMed:11976333, ECO:0000269|PubMed:16417575}.; FUNCTION: E-Cad/CTF2 promotes non-amyloidogenic degradation of Abeta precursors. Has a strong inhibitory effect on APP C99 and C83 production. {ECO:0000269|PubMed:16417575}.; FUNCTION: (Microbial infection) Serves as a receptor for Listeria monocytogenes; internalin A (InlA) binds to this protein and promotes uptake of the bacteria. {ECO:0000269|PubMed:10406800, ECO:0000269|PubMed:17540170, ECO:0000269|PubMed:8601315}. | FUNCTION: Cell surface transmembrane ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Binds to receptor tyrosine kinase including EPHA4, EPHA3 and EPHB4. Together with EPHB4 plays a central role in heart morphogenesis and angiogenesis through regulation of cell adhesion and cell migration. EPHB4-mediated forward signaling controls cellular repulsion and segregation from EFNB2-expressing cells. May play a role in constraining the orientation of longitudinally projecting axons. {ECO:0000269|PubMed:12734395}.; FUNCTION: (Microbial infection) Acts as a receptor for Hendra virus and Nipah virus. {ECO:0000269|PubMed:15998730, ECO:0000269|PubMed:16007075, ECO:0000269|PubMed:16477309, ECO:0000269|PubMed:17376907}. |
| 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 CDH1-EFNB2 |
| 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 CDH1-EFNB2 |
| 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 CDH1-EFNB2 |
| 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 CDH1-EFNB2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CDH1 | C1708349 | Hereditary Diffuse Gastric Cancer | 15 | CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | CDH1 | C0346153 | Breast Cancer, Familial | 12 | CLINGEN |
| Hgene | CDH1 | C0009405 | Hereditary Nonpolyposis Colorectal Neoplasms | 6 | CLINGEN |
| Hgene | CDH1 | C0024623 | Malignant neoplasm of stomach | 6 | CGI;CTD_human;UNIPROT |
| Hgene | CDH1 | C0038356 | Stomach Neoplasms | 6 | CGI;CTD_human |
| Hgene | CDH1 | C1112155 | Hereditary non-polyposis colorectal cancer syndrome | 6 | CLINGEN |
| Hgene | CDH1 | C1333990 | Hereditary Nonpolyposis Colorectal Cancer | 6 | CLINGEN |
| Hgene | CDH1 | C1333991 | Hereditary Non-Polyposis Colon Cancer Type 2 | 6 | CLINGEN |
| Hgene | CDH1 | C2936783 | Colorectal cancer, hereditary nonpolyposis, type 1 | 6 | CLINGEN |
| Hgene | CDH1 | C0006142 | Malignant neoplasm of breast | 4 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Hgene | CDH1 | C0033578 | Prostatic Neoplasms | 4 | CTD_human |
| Hgene | CDH1 | C0376358 | Malignant neoplasm of prostate | 4 | CTD_human;GENOMICS_ENGLAND |
| Hgene | CDH1 | C0678222 | Breast Carcinoma | 4 | CTD_human |
| Hgene | CDH1 | C1257931 | Mammary Neoplasms, Human | 4 | CTD_human |
| Hgene | CDH1 | C1458155 | Mammary Neoplasms | 4 | CTD_human |
| Hgene | CDH1 | C4704874 | Mammary Carcinoma, Human | 4 | CTD_human |
| Hgene | CDH1 | C0007097 | Carcinoma | 3 | CTD_human |
| Hgene | CDH1 | C0205696 | Anaplastic carcinoma | 3 | CTD_human |
| Hgene | CDH1 | C0205697 | Carcinoma, Spindle-Cell | 3 | CTD_human |
| Hgene | CDH1 | C0205698 | Undifferentiated carcinoma | 3 | CTD_human |
| Hgene | CDH1 | C0205699 | Carcinomatosis | 3 | CTD_human |
| Hgene | CDH1 | C0005684 | Malignant neoplasm of urinary bladder | 2 | CTD_human |
| Hgene | CDH1 | C0005695 | Bladder Neoplasm | 2 | CTD_human |
| Hgene | CDH1 | C0009402 | Colorectal Carcinoma | 2 | CTD_human |
| Hgene | CDH1 | C0009404 | Colorectal Neoplasms | 2 | CTD_human |
| Hgene | CDH1 | C0019207 | Hepatoma, Morris | 2 | CTD_human |
| Hgene | CDH1 | C0019208 | Hepatoma, Novikoff | 2 | CTD_human |
| Hgene | CDH1 | C0021367 | Mammary Ductal Carcinoma | 2 | CTD_human |
| Hgene | CDH1 | C0023904 | Liver Neoplasms, Experimental | 2 | CTD_human |
| Hgene | CDH1 | C0027626 | Neoplasm Invasiveness | 2 | CTD_human |
| Hgene | CDH1 | C0027627 | Neoplasm Metastasis | 2 | CTD_human |
| Hgene | CDH1 | C0086404 | Experimental Hepatoma | 2 | CTD_human |
| Hgene | CDH1 | C0206692 | Carcinoma, Lobular | 2 | CGI;CTD_human;UNIPROT |
| Hgene | CDH1 | C1134719 | Invasive Ductal Breast Carcinoma | 2 | CTD_human |
| Hgene | CDH1 | C2931456 | Prostate cancer, familial | 2 | CTD_human |
| Hgene | CDH1 | C4551988 | BLEPHAROCHEILODONTIC SYNDROME 1 | 2 | GENOMICS_ENGLAND;UNIPROT |
| Hgene | CDH1 | C4722327 | PROSTATE CANCER, HEREDITARY, 1 | 2 | CTD_human |
| Hgene | CDH1 | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
| Hgene | CDH1 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
| Hgene | CDH1 | C0009324 | Ulcerative Colitis | 1 | CTD_human |
| Hgene | CDH1 | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| Hgene | CDH1 | C0014170 | Endometrial Neoplasms | 1 | CTD_human |
| Hgene | CDH1 | C0014476 | Eperythrozoonosis | 1 | CTD_human |
| Hgene | CDH1 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| Hgene | CDH1 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
| Hgene | CDH1 | C0025500 | Mesothelioma | 1 | CTD_human |
| Hgene | CDH1 | C0026936 | Mycoplasma Infections | 1 | CTD_human |
| Hgene | CDH1 | C0027645 | Neoplasm Seeding | 1 | CTD_human |
| Hgene | CDH1 | C0027659 | Neoplasms, Experimental | 1 | CTD_human |
| Hgene | CDH1 | C0027746 | Nerve Degeneration | 1 | CTD_human |
| Hgene | CDH1 | C0030297 | Pancreatic Neoplasm | 1 | CTD_human |
| Hgene | CDH1 | C0032927 | Precancerous Conditions | 1 | CTD_human |
| Hgene | CDH1 | C0036095 | Salivary Gland Neoplasms | 1 | CTD_human |
| Hgene | CDH1 | C0079487 | Helicobacter Infections | 1 | CTD_human |
| Hgene | CDH1 | C0158646 | Cleft palate with cleft lip | 1 | ORPHANET |
| Hgene | CDH1 | C0220636 | Malignant neoplasm of salivary gland | 1 | CTD_human |
| Hgene | CDH1 | C0235874 | Disease Exacerbation | 1 | CTD_human |
| Hgene | CDH1 | C0282313 | Condition, Preneoplastic | 1 | CTD_human |
| Hgene | CDH1 | C0282612 | Prostatic Intraepithelial Neoplasias | 1 | CTD_human |
| Hgene | CDH1 | C0346647 | Malignant neoplasm of pancreas | 1 | CTD_human |
| Hgene | CDH1 | C0476089 | Endometrial Carcinoma | 1 | CTD_human;GENOMICS_ENGLAND |
| Hgene | CDH1 | C0919267 | ovarian neoplasm | 1 | CTD_human |
| Hgene | CDH1 | C1140680 | Malignant neoplasm of ovary | 1 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Hgene | CDH1 | C1176475 | Ductal Carcinoma | 1 | CTD_human |
| Hgene | CDH1 | C1257925 | Mammary Carcinoma, Animal | 1 | CTD_human |
| Hgene | CDH1 | C1861536 | Blepharo-cheilo-dontic syndrome | 1 | ORPHANET |
| Tgene | EFNB2 | C0023903 | Liver neoplasms | 1 | CTD_human |
| Tgene | EFNB2 | C0024121 | Lung Neoplasms | 1 | CTD_human |
| Tgene | EFNB2 | C0032927 | Precancerous Conditions | 1 | CTD_human |
| Tgene | EFNB2 | C0035126 | Reperfusion Injury | 1 | CTD_human |
| Tgene | EFNB2 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | EFNB2 | C0242379 | Malignant neoplasm of lung | 1 | CTD_human |
| Tgene | EFNB2 | C0265780 | Congenital absence of lung | 1 | CTD_human |
| Tgene | EFNB2 | C0282313 | Condition, Preneoplastic | 1 | CTD_human |
| Tgene | EFNB2 | C0345904 | Malignant neoplasm of liver | 1 | CTD_human |
| Tgene | EFNB2 | C0456891 | Primary pulmonary hypoplasia | 1 | CTD_human |
| Tgene | EFNB2 | C4082952 | Unilateral lung agenesis | 1 | CTD_human |
| Tgene | EFNB2 | C4547080 | Unilateral lobar pulmonary agenesis | 1 | CTD_human |
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