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Fusion gene ID: 9678 |
FusionGeneSummary for DEAF1_SH3GL1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DEAF1_SH3GL1 | Fusion gene ID: 9678 | Hgene | Tgene | Gene symbol | DEAF1 | SH3GL1 | Gene ID | 10522 | 6455 |
| Gene name | DEAF1, transcription factor | SH3 domain containing GRB2 like 1, endophilin A2 | |
| Synonyms | MRD24|NUDR|SPN|ZMYND5 | CNSA1|EEN|SH3D2B|SH3P8 | |
| Cytomap | 11p15.5 | 19p13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | deformed epidermal autoregulatory factor 1 homolognuclear DEAF-1-related transcriptional regulatorsuppressinzinc finger MYND domain-containing protein 5 | endophilin-A2EEN fusion partner of MLLSH3 domain protein 2BSH3 domain-containing GRB2-like protein 1SH3-containing Grb-2-like 1 proteinSH3-domain GRB2-like 1endophilin-2extra 11-19 leukemia fusionextra eleven-nineteen leukemia fusion gene protein | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | O75398 | Q99961 | |
| Ensembl transtripts involved in fusion gene | ENST00000338675, ENST00000382409, ENST00000525904, | ENST00000269886, ENST00000598564, ENST00000417295, | |
| Fusion gene scores | * DoF score | 5 X 3 X 4=60 | 5 X 4 X 5=100 |
| # samples | 5 | 6 | |
| ** MAII score | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/100*10)=-0.736965594166206 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: DEAF1 [Title/Abstract] AND SH3GL1 [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 | DEAF1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 24726472 |
| Hgene | DEAF1 | GO:0033599 | regulation of mammary gland epithelial cell proliferation | 18826651 |
| Hgene | DEAF1 | GO:0045892 | negative regulation of transcription, DNA-templated | 24726472 |
| Hgene | DEAF1 | GO:0045893 | positive regulation of transcription, DNA-templated | 24726472 |
| 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 | BLCA | TCGA-XF-AAMZ-01A | DEAF1 | chr11 | 686858 | - | SH3GL1 | chr19 | 4366991 | - |
| * 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-3CDS | ENST00000338675 | ENST00000269886 | DEAF1 | chr11 | 686858 | - | SH3GL1 | chr19 | 4366991 | - |
| intron-3CDS | ENST00000338675 | ENST00000598564 | DEAF1 | chr11 | 686858 | - | SH3GL1 | chr19 | 4366991 | - |
| intron-3CDS | ENST00000338675 | ENST00000417295 | DEAF1 | chr11 | 686858 | - | SH3GL1 | chr19 | 4366991 | - |
| In-frame | ENST00000382409 | ENST00000269886 | DEAF1 | chr11 | 686858 | - | SH3GL1 | chr19 | 4366991 | - |
| In-frame | ENST00000382409 | ENST00000598564 | DEAF1 | chr11 | 686858 | - | SH3GL1 | chr19 | 4366991 | - |
| In-frame | ENST00000382409 | ENST00000417295 | DEAF1 | chr11 | 686858 | - | SH3GL1 | chr19 | 4366991 | - |
| intron-3CDS | ENST00000525904 | ENST00000269886 | DEAF1 | chr11 | 686858 | - | SH3GL1 | chr19 | 4366991 | - |
| intron-3CDS | ENST00000525904 | ENST00000598564 | DEAF1 | chr11 | 686858 | - | SH3GL1 | chr19 | 4366991 | - |
| intron-3CDS | ENST00000525904 | ENST00000417295 | DEAF1 | chr11 | 686858 | - | SH3GL1 | chr19 | 4366991 | - |
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FusionProtFeatures for DEAF1_SH3GL1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DEAF1 | SH3GL1 |