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Fusion gene ID: 14426 |
FusionGeneSummary for GATA4_SFTPD |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: GATA4_SFTPD | Fusion gene ID: 14426 | Hgene | Tgene | Gene symbol | GATA4 | SFTPD | Gene ID | 2626 | 6441 |
| Gene name | GATA binding protein 4 | surfactant protein D | |
| Synonyms | ASD2|TACHD|TOF|VSD1 | COLEC7|PSP-D|SFTP4|SP-D | |
| Cytomap | 8p23.1 | 10q22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transcription factor GATA-4GATA-binding factor 4 | pulmonary surfactant-associated protein Dcollectin-7lung surfactant protein Dpulmonary surfactant apoproteinsurfactant-associated protein, pulmonary 4 | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | P43694 | P35247 | |
| Ensembl transtripts involved in fusion gene | ENST00000528712, ENST00000335135, ENST00000532059, | ENST00000372292, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 4 X 3 X 4=48 |
| # samples | 3 | 4 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: GATA4 [Title/Abstract] AND SFTPD [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 | GATA4 | GO:0045893 | positive regulation of transcription, DNA-templated | 24000169 |
| Hgene | GATA4 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 21330551 |
| Hgene | GATA4 | GO:0060575 | intestinal epithelial cell differentiation | 9566909 |
| Tgene | SFTPD | GO:0052405 | negative regulation by host of symbiont molecular function | 28228557 |
| Tgene | SFTPD | GO:1905226 | regulation of adhesion of symbiont to host epithelial cell | 28228557 |
| 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 | RV | STAD | TCGA-VQ-A91N-01A | GATA4 | chr8 | 11561813 | + | SFTPD | chr10 | 81706418 | - |
| * 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 |
| intron-5UTR | ENST00000528712 | ENST00000372292 | GATA4 | chr8 | 11561813 | + | SFTPD | chr10 | 81706418 | - |
| 5UTR-5UTR | ENST00000335135 | ENST00000372292 | GATA4 | chr8 | 11561813 | + | SFTPD | chr10 | 81706418 | - |
| intron-5UTR | ENST00000532059 | ENST00000372292 | GATA4 | chr8 | 11561813 | + | SFTPD | chr10 | 81706418 | - |
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FusionProtFeatures for GATA4_SFTPD |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| GATA4 | SFTPD |
| Transcriptional activator that binds to the consensussequence 5'-AGATAG-3' and plays a key role in cardiac developmentand function (PubMed:24000169, PubMed:27984724). In cooperationwith TBX5, it binds to cardiac super-enhancers and promotescardiomyocyte gene expression, while it downregulates endocardialand endothelial gene expression (PubMed:27984724). Involved inbone morphogenetic protein (BMP)-mediated induction of cardiac-specific gene expression. Binds to BMP response element (BMPRE)DNA sequences within cardiac activating regions (By similarity).Acts as a transcriptional activator of ANF in cooperation withNKX2-5 (By similarity). Promotes cardiac myocyte enlargement(PubMed:20081228). Required during testicular development(PubMed:21220346). May play a role in sphingolipid signaling byregulating the expression of sphingosine-1-phosphate degradingenzyme, spingosine-1-phosphate lyase (PubMed:15734735).{ECO:0000250|UniProtKB:P46152, ECO:0000250|UniProtKB:Q08369,ECO:0000269|PubMed:15734735, ECO:0000269|PubMed:20081228,ECO:0000269|PubMed:21220346, ECO:0000269|PubMed:24000169,ECO:0000269|PubMed:27984724}. | Contributes to the lung's defense against inhaledmicroorganisms, organic antigens and toxins. Interacts withcompounds such as bacterial lipopolysaccharides, oligosaccharidesand fatty acids and modulates leukocyte action in immune response.May participate in the extracellular reorganization or turnover ofpulmonary surfactant. Binds strongly maltose residues and to alesser extent other alpha-glucosyl moieties.{ECO:0000269|PubMed:23478426}. |
| 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 GATA4_SFTPD |
| 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 GATA4_SFTPD |
| 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 |
| GATA4 | MDC1, NKX2-5, TBX5, HAND2, NR5A1, ZFPM2, SRF, MAPK1, ID1, ID2, ID3, ALX4, ZBTB3, EP300, SP1, HDAC2, EZH2, EZH1, SUZ12, JARID2, KDM6A, FOXE1 | SFTPD | DCN, SFTPA1, DMBT1, DNAJC2 |
| - 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 GATA4_SFTPD |
| 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 GATA4_SFTPD |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | GATA4 | C1842778 | Atrial septal defect 2 | 6 | CTD_human;UNIPROT |
| Hgene | GATA4 | C3280777 | VENTRICULAR SEPTAL DEFECT 1 | 4 | UNIPROT |
| Hgene | GATA4 | C3280781 | ATRIOVENTRICULAR SEPTAL DEFECT 4 | 3 | UNIPROT |
| Hgene | GATA4 | C0018800 | Cardiomegaly | 2 | CTD_human |
| Hgene | GATA4 | C0001973 | Alcoholic Intoxication, Chronic | 1 | CTD_human |
| Hgene | GATA4 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| Hgene | GATA4 | C0019284 | Diaphragmatic Hernia | 1 | CTD_human |
| Hgene | GATA4 | C0027051 | Myocardial Infarction | 1 | CTD_human |
| Hgene | GATA4 | C0039685 | Tetralogy of Fallot | 1 | HPO;ORPHANET;UNIPROT |
| Hgene | GATA4 | C0235833 | Congenital diaphragmatic hernia | 1 | CTD_human |
| Hgene | GATA4 | C3809858 | TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE | 1 | UNIPROT |
| Tgene | SFTPD | C0024121 | Lung Neoplasms | 2 | CTD_human |
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