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Fusion gene ID: 14422 |
FusionGeneSummary for GATA2_H19 |
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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) |
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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 |
![]() (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 |
![]() * 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 |
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Hgene | Tgene |
GATA2 | H19 |
Transcriptional activator which regulates endothelin-1gene expression in endothelial cells. Binds to the consensussequence 5'-AGATAG-3'. | Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. |
![]() * 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 GATA2_H19 |
![]() (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 GATA2_H19 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for GATA2_H19 |
![]() (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 GATA2_H19 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | GATA2 | C0023467 | Leukemia, Myelocytic, Acute | 2 | CTD_human |
Hgene | GATA2 | C3280030 | IMMUNODEFICIENCY 21 | 2 | ORPHANET;UNIPROT |
Hgene | GATA2 | C3463824 | MYELODYSPLASTIC SYNDROME | 2 | CTD_human;HPO;UNIPROT |
Hgene | GATA2 | C0007302 | Cartilage Diseases | 1 | CTD_human |
Hgene | GATA2 | C0024236 | Lymphedema | 1 | CTD_human;HPO |
Hgene | GATA2 | C0243050 | Cardiovascular Abnormalities | 1 | CTD_human |
Hgene | GATA2 | C0349639 | Juvenile Myelomonocytic Leukemia | 1 | CTD_human |
Hgene | GATA2 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
Hgene | GATA2 | C3279664 | Emberger syndrome | 1 | ORPHANET;UNIPROT |
Tgene | H19 | C0019188 | Hepatitis, Animal | 1 | CTD_human |
Tgene | H19 | C0023904 | Liver Neoplasms, Experimental | 1 | CTD_human |
Tgene | H19 | C0175693 | Russell-Silver syndrome | 1 | CTD_human |