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Fusion gene ID: 6463 |
FusionGeneSummary for CDH4_DPPA3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CDH4_DPPA3 | Fusion gene ID: 6463 | Hgene | Tgene | Gene symbol | CDH4 | DPPA3 | Gene ID | 1002 | 359787 |
| Gene name | cadherin 4 | developmental pluripotency associated 3 | |
| Synonyms | CAD4|R-CAD|RCAD | Pgc7|STELLA | |
| Cytomap | 20q13.33 | 12p13.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | cadherin-4R-cadherincadherin 4, type 1, R-cadherin (retinal)cadherin 4, type 1, preproproteinretinal cadherin | developmental pluripotency-associated protein 3stella-related protein | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P55283 | Q6W0C5 | |
| Ensembl transtripts involved in fusion gene | ENST00000360469, ENST00000543233, | ENST00000345088, | |
| Fusion gene scores | * DoF score | 4 X 3 X 2=24 | 1 X 1 X 1=1 |
| # samples | 4 | 1 | |
| ** MAII score | log2(4/24*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: CDH4 [Title/Abstract] AND DPPA3 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 |
| 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 |
| TCGA | LD | SARC | TCGA-DX-A1KZ-01A | CDH4 | chr20 | 60448956 | + | DPPA3 | chr12 | 7867779 | + |
| * 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 |
| Frame-shift | ENST00000360469 | ENST00000345088 | CDH4 | chr20 | 60448956 | + | DPPA3 | chr12 | 7867779 | + |
| Frame-shift | ENST00000543233 | ENST00000345088 | CDH4 | chr20 | 60448956 | + | DPPA3 | chr12 | 7867779 | + |
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FusionProtFeatures for CDH4_DPPA3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CDH4 | DPPA3 |
| 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. May play an important role inretinal development. | Primordial germ cell (PGCs)-specific protein involved inepigenetic chromatin reprogramming in the zygote followingfertilization. In zygotes, DNA demethylation occurs selectively inthe paternal pronucleus before the first cell division, while theadjacent maternal pronucleus and certain paternally-imprinted lociare protected from this process. Participates in protection of DNAmethylation in the maternal pronucleus by preventing conversion of5mC to 5hmC: specifically recognizes and binds histone H3dimethylated at 'Lys-9' (H3K9me2) on maternal genome, and protectsmaternal genome from TET3-mediated conversion to 5hmC andsubsequent DNA demethylation. Does not bind paternal chromatin,which is mainly packed into protamine and does not contain muchH3K9me2 mark. Also protects imprinted loci that are marked withH3K9me2 in mature sperm from DNA demethylation in earlyembryogenesis. May be important for the totipotent/pluripotentstates continuing through preimplantation development. Alsoinvolved in chromatin condensation in oocytogenesis (Bysimilarity). {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 CDH4_DPPA3 |
| 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 CDH4_DPPA3 |
| 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 |
| CDH4 | CDH2, CDK5RAP3, FUS, UBE2I, CTNNA3, MTNR1B | DPPA3 |
| - 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 CDH4_DPPA3 |
| 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 CDH4_DPPA3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | DPPA3 | C0027658 | Neoplasms, Germ Cell and Embryonal | 1 | CTD_human |
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