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Fusion gene ID: 9692 |
FusionGeneSummary for DEFA1_DGCR8 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DEFA1_DGCR8 | Fusion gene ID: 9692 | Hgene | Tgene | Gene symbol | DEFA1 | DGCR8 | Gene ID | 1667 | 54487 |
| Gene name | defensin alpha 1 | DGCR8, microprocessor complex subunit | |
| Synonyms | DEF1|DEFA2|HNP-1|HP-1|HP1|MRS | C22orf12|DGCRK6|Gy1|pasha | |
| Cytomap | 8p23.1 | 22q11.21 | |
| Type of gene | protein-coding | protein-coding | |
| Description | neutrophil defensin 1defensin, alpha 1, myeloid-related sequencedefensin, alpha 2myeloid-related sequence | microprocessor complex subunit DGCR8DiGeorge syndrome critical region 8DiGeorge syndrome critical region gene 8 | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | P59665 | Q8WYQ5 | |
| Ensembl transtripts involved in fusion gene | ENST00000382679, ENST00000382692, | ENST00000351989, ENST00000383024, ENST00000407755, | |
| Fusion gene scores | * DoF score | 3 X 3 X 1=9 | 6 X 5 X 4=120 |
| # samples | 3 | 8 | |
| ** MAII score | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(8/120*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: DEFA1 [Title/Abstract] AND DGCR8 [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 | DEFA1 | GO:0002227 | innate immune response in mucosa | 12860195 |
| Hgene | DEFA1 | GO:0010818 | T cell chemotaxis | 17088326 |
| Hgene | DEFA1 | GO:0019731 | antibacterial humoral response | 12860195 |
| Hgene | DEFA1 | GO:0030520 | intracellular estrogen receptor signaling pathway | 21861873 |
| Hgene | DEFA1 | GO:0031640 | killing of cells of other organism | 17088326 |
| Hgene | DEFA1 | GO:0044657 | pore formation in membrane of other organism during symbiotic interaction | 17635867 |
| Hgene | DEFA1 | GO:0050830 | defense response to Gram-positive bacterium | 12860195 |
| Hgene | DEFA1 | GO:0051852 | disruption by host of symbiont cells | 17635867 |
| Hgene | DEFA1 | GO:0061844 | antimicrobial humoral immune response mediated by antimicrobial peptide | 12860195 |
| Tgene | DGCR8 | GO:0031053 | primary miRNA processing | 15531877|15574589|24449907|24910438 |
| 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 | BF896040 | DEFA1 | chr8 | 6875823 | + | DGCR8 | chr22 | 20079773 | + |
| * 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 | ENST00000382679 | ENST00000351989 | DEFA1 | chr8 | 6875823 | + | DGCR8 | chr22 | 20079773 | + |
| intron-intron | ENST00000382679 | ENST00000383024 | DEFA1 | chr8 | 6875823 | + | DGCR8 | chr22 | 20079773 | + |
| intron-intron | ENST00000382679 | ENST00000407755 | DEFA1 | chr8 | 6875823 | + | DGCR8 | chr22 | 20079773 | + |
| intron-intron | ENST00000382692 | ENST00000351989 | DEFA1 | chr8 | 6875823 | + | DGCR8 | chr22 | 20079773 | + |
| intron-intron | ENST00000382692 | ENST00000383024 | DEFA1 | chr8 | 6875823 | + | DGCR8 | chr22 | 20079773 | + |
| intron-intron | ENST00000382692 | ENST00000407755 | DEFA1 | chr8 | 6875823 | + | DGCR8 | chr22 | 20079773 | + |
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FusionProtFeatures for DEFA1_DGCR8 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DEFA1 | DGCR8 |