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Fusion gene ID: 35647 |
FusionGeneSummary for SPEN_EFHD2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SPEN_EFHD2 | Fusion gene ID: 35647 | Hgene | Tgene | Gene symbol | SPEN | EFHD2 | Gene ID | 64783 | 79180 |
| Gene name | RNA binding motif protein 15 | EF-hand domain family member D2 | |
| Synonyms | OTT|OTT1|SPEN | SWS1 | |
| Cytomap | 1p13.3 | 1p36.21 | |
| Type of gene | protein-coding | protein-coding | |
| Description | putative RNA-binding protein 15one twenty two proteinone twenty-twoone-twenty two protein 1 | EF-hand domain-containing protein D2EF hand domain containing 2swiprosin 1testicular tissue protein Li 62 | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q96T58 | Q96C19 | |
| Ensembl transtripts involved in fusion gene | ENST00000375759, ENST00000471538, | ENST00000375980, | |
| Fusion gene scores | * DoF score | 15 X 10 X 12=1800 | 4 X 3 X 4=48 |
| # samples | 22 | 4 | |
| ** MAII score | log2(22/1800*10)=-3.03242147769238 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). 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: SPEN [Title/Abstract] AND EFHD2 [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 | SPEN | GO:0045892 | negative regulation of transcription, DNA-templated | 16129689 |
| 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 | BLCA | TCGA-DK-A3X2-01A | SPEN | chr1 | 16174645 | + | EFHD2 | chr1 | 15752367 | + |
| * 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 |
| In-frame | ENST00000375759 | ENST00000375980 | SPEN | chr1 | 16174645 | + | EFHD2 | chr1 | 15752367 | + |
| intron-3CDS | ENST00000471538 | ENST00000375980 | SPEN | chr1 | 16174645 | + | EFHD2 | chr1 | 15752367 | + |
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FusionProtFeatures for SPEN_EFHD2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SPEN | EFHD2 |