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Fusion gene ID: 37891 |
FusionGeneSummary for TGFB2_CDH2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TGFB2_CDH2 | Fusion gene ID: 37891 | Hgene | Tgene | Gene symbol | TGFB2 | CDH2 | Gene ID | 7042 | 1000 |
| Gene name | transforming growth factor beta 2 | cadherin 2 | |
| Synonyms | G-TSF|LDS4|TGF-beta2 | CD325|CDHN|CDw325|NCAD | |
| Cytomap | 1q41 | 18q12.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transforming growth factor beta-2BSC-1 cell growth inhibitorceterminglioblastoma-derived T-cell suppressor factorpolyerginprepro-transforming growth factor beta-2 | cadherin-2N-cadherin 1cadherin 2, type 1, N-cadherin (neuronal)calcium-dependent adhesion protein, neuronalneural cadherin | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P61812 | P19022 | |
| Ensembl transtripts involved in fusion gene | ENST00000366930, ENST00000366929, ENST00000479322, | ENST00000269141, ENST00000399380, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 6 X 6 X 3=108 |
| # samples | 1 | 6 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(6/108*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: TGFB2 [Title/Abstract] AND CDH2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * 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 | TGFB2 | GO:0000902 | cell morphogenesis | 15896309 |
| Hgene | TGFB2 | GO:0001654 | eye development | 15944186 |
| Hgene | TGFB2 | GO:0001837 | epithelial to mesenchymal transition | 10092230|18223299 |
| Hgene | TGFB2 | GO:0001942 | hair follicle development | 10433821 |
| Hgene | TGFB2 | GO:0003007 | heart morphogenesis | 10092230 |
| Hgene | TGFB2 | GO:0006468 | protein phosphorylation | 18358889 |
| Hgene | TGFB2 | GO:0007050 | cell cycle arrest | 18223299 |
| Hgene | TGFB2 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 11157754|18358889 |
| Hgene | TGFB2 | GO:0007507 | heart development | 15896309 |
| Hgene | TGFB2 | GO:0008219 | cell death | 16227582 |
| Hgene | TGFB2 | GO:0008284 | positive regulation of cell proliferation | 15896309 |
| Hgene | TGFB2 | GO:0008285 | negative regulation of cell proliferation | 15944186 |
| Hgene | TGFB2 | GO:0008347 | glial cell migration | 18431253 |
| Hgene | TGFB2 | GO:0010002 | cardioblast differentiation | 15896309 |
| Hgene | TGFB2 | GO:0010629 | negative regulation of gene expression | 25217442 |
| Hgene | TGFB2 | GO:0010634 | positive regulation of epithelial cell migration | 17960115 |
| Hgene | TGFB2 | GO:0010693 | negative regulation of alkaline phosphatase activity | 18358889 |
| Hgene | TGFB2 | GO:0010718 | positive regulation of epithelial to mesenchymal transition | 17999987|18505915 |
| Hgene | TGFB2 | GO:0010936 | negative regulation of macrophage cytokine production | 20875417 |
| Hgene | TGFB2 | GO:0014068 | positive regulation of phosphatidylinositol 3-kinase signaling | 18223299 |
| Hgene | TGFB2 | GO:0016477 | cell migration | 10092230 |
| Hgene | TGFB2 | GO:0016525 | negative regulation of angiogenesis | 25217442|28977001 |
| Hgene | TGFB2 | GO:0030199 | collagen fibril organization | 16891397 |
| Hgene | TGFB2 | GO:0030307 | positive regulation of cell growth | 15896309|20573232 |
| Hgene | TGFB2 | GO:0030308 | negative regulation of cell growth | 18358889 |
| Hgene | TGFB2 | GO:0032147 | activation of protein kinase activity | 17192487|17960115 |
| Hgene | TGFB2 | GO:0032570 | response to progesterone | 18039789 |
| Hgene | TGFB2 | GO:0032874 | positive regulation of stress-activated MAPK cascade | 17192487 |
| Hgene | TGFB2 | GO:0033630 | positive regulation of cell adhesion mediated by integrin | 17960115|18223299 |
| Hgene | TGFB2 | GO:0042493 | response to drug | 20573232 |
| Hgene | TGFB2 | GO:0043525 | positive regulation of neuron apoptotic process | 16227582 |
| Hgene | TGFB2 | GO:0045216 | cell-cell junction organization | 18505915 |
| Hgene | TGFB2 | GO:0045726 | positive regulation of integrin biosynthetic process | 17960115 |
| Hgene | TGFB2 | GO:0045747 | positive regulation of Notch signaling pathway | 25217442 |
| Hgene | TGFB2 | GO:0045823 | positive regulation of heart contraction | 15896309 |
| Hgene | TGFB2 | GO:0050680 | negative regulation of epithelial cell proliferation | 17217916 |
| Hgene | TGFB2 | GO:0050714 | positive regulation of protein secretion | 18505915 |
| Hgene | TGFB2 | GO:0051794 | regulation of timing of catagen | 15955085 |
| Hgene | TGFB2 | GO:0051795 | positive regulation of timing of catagen | 15955085 |
| Hgene | TGFB2 | GO:0051891 | positive regulation of cardioblast differentiation | 15896309 |
| Hgene | TGFB2 | GO:0060038 | cardiac muscle cell proliferation | 15896309 |
| Hgene | TGFB2 | GO:0060317 | cardiac epithelial to mesenchymal transition | 10092230 |
| Hgene | TGFB2 | GO:0060389 | pathway-restricted SMAD protein phosphorylation | 11157754|18358889 |
| Hgene | TGFB2 | GO:0060395 | SMAD protein signal transduction | 17192487 |
| Hgene | TGFB2 | GO:0097191 | extrinsic apoptotic signaling pathway | 17217916 |
| Hgene | TGFB2 | GO:1902895 | positive regulation of pri-miRNA transcription by RNA polymerase II | 25217442 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | BE767210 | TGFB2 | chr1 | 218616382 | - | CDH2 | chr18 | 25543486 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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 |
| 3UTR-3CDS | ENST00000366930 | ENST00000269141 | TGFB2 | chr1 | 218616382 | - | CDH2 | chr18 | 25543486 | - |
| 3UTR-3CDS | ENST00000366930 | ENST00000399380 | TGFB2 | chr1 | 218616382 | - | CDH2 | chr18 | 25543486 | - |
| 3UTR-3CDS | ENST00000366929 | ENST00000269141 | TGFB2 | chr1 | 218616382 | - | CDH2 | chr18 | 25543486 | - |
| 3UTR-3CDS | ENST00000366929 | ENST00000399380 | TGFB2 | chr1 | 218616382 | - | CDH2 | chr18 | 25543486 | - |
| intron-3CDS | ENST00000479322 | ENST00000269141 | TGFB2 | chr1 | 218616382 | - | CDH2 | chr18 | 25543486 | - |
| intron-3CDS | ENST00000479322 | ENST00000399380 | TGFB2 | chr1 | 218616382 | - | CDH2 | chr18 | 25543486 | - |
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FusionProtFeatures for TGFB2_CDH2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TGFB2 | CDH2 |
| TGF-beta 2 has suppressive effects on interleukin-2dependent T-cell growth. | Cadherins are calcium-dependent cell adhesion proteins.They preferentially interact with themselves in a homophilicmanner in connecting cells; cadherins may thus contribute to thesorting of heterogeneous cell types. Acts as a regulator of neuralstem cells quiescence by mediating anchorage of neural stem cellsto ependymocytes in the adult subependymal zone: upon cleavage byMMP24, CDH2-mediated anchorage is affected, leading to modulateneural stem cell quiescence. CDH2 may be involved in neuronalrecognition mechanism. In hippocampal neurons, may regulatedendritic spine density (By similarity). {ECO:0000250}. |
| 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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FusionGeneSequence for TGFB2_CDH2 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for TGFB2_CDH2 |
| 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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RelatedDrugs for TGFB2_CDH2 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for TGFB2_CDH2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TGFB2 | C0162872 | Aortic Aneurysm, Thoracic | 2 | CTD_human |
| Hgene | TGFB2 | C0003504 | Aortic Valve Insufficiency | 1 | CTD_human;HPO |
| Hgene | TGFB2 | C0004364 | Autoimmune Diseases | 1 | CTD_human |
| Hgene | TGFB2 | C0005941 | Bone Diseases, Developmental | 1 | CTD_human |
| Hgene | TGFB2 | C0008311 | Cholangitis | 1 | CTD_human |
| Hgene | TGFB2 | C0008925 | Cleft Palate | 1 | CTD_human |
| Hgene | TGFB2 | C0010520 | Cyanosis | 1 | CTD_human |
| Hgene | TGFB2 | C0014175 | Endometriosis | 1 | CTD_human |
| Hgene | TGFB2 | C0015393 | Eye Abnormalities | 1 | CTD_human |
| Hgene | TGFB2 | C0017601 | Glaucoma | 1 | CTD_human |
| Hgene | TGFB2 | C0018798 | Congenital Heart Defects | 1 | CTD_human |
| Hgene | TGFB2 | C0035238 | Congenital abnormality of respiratory system | 1 | CTD_human |
| Hgene | TGFB2 | C0041956 | Ureteral obstruction | 1 | CTD_human |
| Hgene | TGFB2 | C0042063 | Urogenital Abnormalities | 1 | CTD_human |
| Hgene | TGFB2 | C0151491 | Congenital musculoskeletal anomalies | 1 | CTD_human |
| Hgene | TGFB2 | C0206762 | Limb Deformities, Congenital | 1 | CTD_human |
| Hgene | TGFB2 | C0345967 | Malignant mesothelioma | 1 | CTD_human |
| Hgene | TGFB2 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| Hgene | TGFB2 | C2697932 | Loeys-Dietz Syndrome | 1 | CTD_human |
| Hgene | TGFB2 | C3553762 | LOEYS-DIETZ SYNDROME 4 | 1 | UNIPROT |
| Tgene | CDH2 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Tgene | CDH2 | C0027746 | Nerve Degeneration | 1 | CTD_human |
| Tgene | CDH2 | C0038220 | Status Epilepticus | 1 | CTD_human |
| Tgene | CDH2 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Tgene | CDH2 | C0151744 | Myocardial Ischemia | 1 | CTD_human |
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