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Fusion gene ID: 14422 |
FusionGeneSummary for GATA2_H19 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: GATA2_H19 | Fusion gene ID: 14422 | Hgene | Tgene | Gene symbol | GATA2 | H19 | Gene ID | 2624 | 283120 |
| Gene name | GATA binding protein 2 | H19, imprinted maternally expressed transcript | |
| Synonyms | DCML|IMD21|MONOMAC|NFE1B | ASM|ASM1|BWS|D11S813E|LINC00008|NCRNA00008|WT2 | |
| Cytomap | 3q21.3 | 11p15.5 | |
| Type of gene | protein-coding | ncRNA | |
| Description | endothelial transcription factor GATA-2 | H19, imprinted maternally expressed transcript (non-protein coding)H19, imprinted maternally expressed untranslated mRNAlong intergenic non-protein coding RNA 8 | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | P23769 | ||
| Ensembl transtripts involved in fusion gene | ENST00000341105, ENST00000489987, ENST00000430265, ENST00000487848, | ENST00000390168, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 25 X 28 X 3=2100 |
| # samples | 2 | 31 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(31/2100*10)=-2.76004920727925 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: GATA2 [Title/Abstract] AND H19 [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 | GATA2 | GO:0006351 | transcription, DNA-templated | 16153155 |
| Hgene | GATA2 | GO:0035854 | eosinophil fate commitment | 12045236 |
| Hgene | GATA2 | GO:0045746 | negative regulation of Notch signaling pathway | 16672344 |
| Hgene | GATA2 | GO:0045766 | positive regulation of angiogenesis | 19242469 |
| Hgene | GATA2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 15016828|20206639|21788589 |
| Hgene | GATA2 | GO:0061614 | pri-miRNA transcription by RNA polymerase II | 27780851 |
| Hgene | GATA2 | GO:2000178 | negative regulation of neural precursor cell proliferation | 16672344 |
| 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 | BE902392 | GATA2 | chr3 | 128199662 | - | H19 | chr11 | 2018308 | - |
| * 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-intron | ENST00000341105 | ENST00000390168 | GATA2 | chr3 | 128199662 | - | H19 | chr11 | 2018308 | - |
| intron-intron | ENST00000489987 | ENST00000390168 | GATA2 | chr3 | 128199662 | - | H19 | chr11 | 2018308 | - |
| intron-intron | ENST00000430265 | ENST00000390168 | GATA2 | chr3 | 128199662 | - | H19 | chr11 | 2018308 | - |
| intron-intron | ENST00000487848 | ENST00000390168 | GATA2 | chr3 | 128199662 | - | H19 | chr11 | 2018308 | - |
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FusionProtFeatures for GATA2_H19 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| GATA2 | H19 |