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Fusion gene ID: 33472 |
FusionGeneSummary for SFI1_EFCAB4B |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SFI1_EFCAB4B | Fusion gene ID: 33472 | Hgene | Tgene | Gene symbol | SFI1 | EFCAB4B | Gene ID | 9814 | 84766 |
| Gene name | SFI1 centrin binding protein | calcium release activated channel regulator 2A | |
| Synonyms | PISD|PPP1R139|hSfi1p | EFCAB4B | |
| Cytomap | 22q12.2 | 12p13.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein SFI1 homologSfi1 homolog, spindle assembly associatedhomolog of yeast Sfi1protein phosphatase 1, regulatory subunit 139 | EF-hand calcium-binding domain-containing protein 4BCRAC channel regulator 2ACRAC regulator 2ACa2+ release-activated Ca2+ (CRAC) channel regulator 2AEF-hand calcium binding domain 4Bcalcium release-activated calcium channel regulator 2A | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | A8K8P3 | ||
| Ensembl transtripts involved in fusion gene | ENST00000443326, ENST00000414585, ENST00000540643, ENST00000432498, ENST00000443011, ENST00000400289, ENST00000400288, ENST00000474741, | ENST00000440314, ENST00000444507, ENST00000252322, ENST00000514026, | |
| Fusion gene scores | * DoF score | 4 X 3 X 4=48 | 2 X 2 X 2=8 |
| # samples | 4 | 2 | |
| ** MAII score | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: SFI1 [Title/Abstract] AND EFCAB4B [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 | SFI1 | GO:0010923 | negative regulation of phosphatase activity | 19389623 |
| 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 | TGCT | TCGA-VF-A8AD-01A | SFI1 | chr22 | 31985563 | + | EFCAB4B | chr12 | 3753806 | - |
| * 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 | ENST00000443326 | ENST00000440314 | SFI1 | chr22 | 31985563 | + | EFCAB4B | chr12 | 3753806 | - |
| In-frame | ENST00000443326 | ENST00000444507 | SFI1 | chr22 | 31985563 | + | EFCAB4B | chr12 | 3753806 | - |
| 5CDS-intron | ENST00000443326 | ENST00000252322 | SFI1 | chr22 | 31985563 | + | EFCAB4B | chr12 | 3753806 | - |
| 5CDS-intron | ENST00000443326 | ENST00000514026 | SFI1 | chr22 | 31985563 | + | EFCAB4B | chr12 | 3753806 | - |
| In-frame | ENST00000414585 | ENST00000440314 | SFI1 | chr22 | 31985563 | + | EFCAB4B | chr12 | 3753806 | - |
| In-frame | ENST00000414585 | ENST00000444507 | SFI1 | chr22 | 31985563 | + | EFCAB4B | chr12 | 3753806 | - |
| 5CDS-intron | ENST00000414585 | ENST00000252322 | SFI1 | chr22 | 31985563 | + | EFCAB4B | chr12 | 3753806 | - |
| 5CDS-intron | ENST00000414585 | ENST00000514026 | SFI1 | chr22 | 31985563 | + | EFCAB4B | chr12 | 3753806 | - |
| In-frame | ENST00000540643 | ENST00000440314 | SFI1 | chr22 | 31985563 | + | EFCAB4B | chr12 | 3753806 | - |
| In-frame | ENST00000540643 | ENST00000444507 | SFI1 | chr22 | 31985563 | + | EFCAB4B | chr12 | 3753806 | - |
| 5CDS-intron | ENST00000540643 | ENST00000252322 | SFI1 | chr22 | 31985563 | + | EFCAB4B | chr12 | 3753806 | - |
| 5CDS-intron | ENST00000540643 | ENST00000514026 | SFI1 | chr22 | 31985563 | + | EFCAB4B | chr12 | 3753806 | - |
| In-frame | ENST00000432498 | ENST00000440314 | SFI1 | chr22 | 31985563 | + | EFCAB4B | chr12 | 3753806 | - |
| In-frame | ENST00000432498 | ENST00000444507 | SFI1 | chr22 | 31985563 | + | EFCAB4B | chr12 | 3753806 | - |
| 5CDS-intron | ENST00000432498 | ENST00000252322 | SFI1 | chr22 | 31985563 | + | EFCAB4B | chr12 | 3753806 | - |
| 5CDS-intron | ENST00000432498 | ENST00000514026 | SFI1 | chr22 | 31985563 | + | EFCAB4B | chr12 | 3753806 | - |
| In-frame | ENST00000443011 | ENST00000440314 | SFI1 | chr22 | 31985563 | + | EFCAB4B | chr12 | 3753806 | - |
| In-frame | ENST00000443011 | ENST00000444507 | SFI1 | chr22 | 31985563 | + | EFCAB4B | chr12 | 3753806 | - |
| 5CDS-intron | ENST00000443011 | ENST00000252322 | SFI1 | chr22 | 31985563 | + | EFCAB4B | chr12 | 3753806 | - |
| 5CDS-intron | ENST00000443011 | ENST00000514026 | SFI1 | chr22 | 31985563 | + | EFCAB4B | chr12 | 3753806 | - |
| In-frame | ENST00000400289 | ENST00000440314 | SFI1 | chr22 | 31985563 | + | EFCAB4B | chr12 | 3753806 | - |
| In-frame | ENST00000400289 | ENST00000444507 | SFI1 | chr22 | 31985563 | + | EFCAB4B | chr12 | 3753806 | - |
| 5CDS-intron | ENST00000400289 | ENST00000252322 | SFI1 | chr22 | 31985563 | + | EFCAB4B | chr12 | 3753806 | - |
| 5CDS-intron | ENST00000400289 | ENST00000514026 | SFI1 | chr22 | 31985563 | + | EFCAB4B | chr12 | 3753806 | - |
| In-frame | ENST00000400288 | ENST00000440314 | SFI1 | chr22 | 31985563 | + | EFCAB4B | chr12 | 3753806 | - |
| In-frame | ENST00000400288 | ENST00000444507 | SFI1 | chr22 | 31985563 | + | EFCAB4B | chr12 | 3753806 | - |
| 5CDS-intron | ENST00000400288 | ENST00000252322 | SFI1 | chr22 | 31985563 | + | EFCAB4B | chr12 | 3753806 | - |
| 5CDS-intron | ENST00000400288 | ENST00000514026 | SFI1 | chr22 | 31985563 | + | EFCAB4B | chr12 | 3753806 | - |
| intron-3CDS | ENST00000474741 | ENST00000440314 | SFI1 | chr22 | 31985563 | + | EFCAB4B | chr12 | 3753806 | - |
| intron-3CDS | ENST00000474741 | ENST00000444507 | SFI1 | chr22 | 31985563 | + | EFCAB4B | chr12 | 3753806 | - |
| intron-intron | ENST00000474741 | ENST00000252322 | SFI1 | chr22 | 31985563 | + | EFCAB4B | chr12 | 3753806 | - |
| intron-intron | ENST00000474741 | ENST00000514026 | SFI1 | chr22 | 31985563 | + | EFCAB4B | chr12 | 3753806 | - |
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FusionProtFeatures for SFI1_EFCAB4B |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SFI1 | EFCAB4B |