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Fusion gene ID: 12904 |
FusionGeneSummary for FAM98C_SPINT2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: FAM98C_SPINT2 | Fusion gene ID: 12904 | Hgene | Tgene | Gene symbol | FAM98C | SPINT2 | Gene ID | 147965 | 10653 |
| Gene name | family with sequence similarity 98 member C | serine peptidase inhibitor, Kunitz type 2 | |
| Synonyms | - | DIAR3|HAI-2|HAI2|Kop|PB | |
| Cytomap | 19q13.2 | 19q13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein FAM98C | kunitz-type protease inhibitor 2hepatocyte growth factor activator inhibitor type 2serine protease inhibitor, Kunitz type, 2testicular tissue protein Li 183 | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q17RN3 | O43291 | |
| Ensembl transtripts involved in fusion gene | ENST00000588262, ENST00000252530, ENST00000343358, ENST00000585954, | ENST00000301244, ENST00000587090, ENST00000454580, | |
| Fusion gene scores | * DoF score | 5 X 3 X 4=60 | 8 X 2 X 7=112 |
| # samples | 5 | 8 | |
| ** MAII score | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/112*10)=-0.485426827170242 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: FAM98C [Title/Abstract] AND SPINT2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 |
| Tgene | SPINT2 | GO:0022408 | negative regulation of cell-cell adhesion | 19592578 |
| Tgene | SPINT2 | GO:2000146 | negative regulation of cell motility | 19592578 |
| 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 | OV | TCGA-61-2094-01A | FAM98C | chr19 | 38894334 | + | SPINT2 | chr19 | 38774267 | + |
| * 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 | ENST00000588262 | ENST00000301244 | FAM98C | chr19 | 38894334 | + | SPINT2 | chr19 | 38774267 | + |
| 5CDS-5UTR | ENST00000588262 | ENST00000587090 | FAM98C | chr19 | 38894334 | + | SPINT2 | chr19 | 38774267 | + |
| 5CDS-intron | ENST00000588262 | ENST00000454580 | FAM98C | chr19 | 38894334 | + | SPINT2 | chr19 | 38774267 | + |
| In-frame | ENST00000252530 | ENST00000301244 | FAM98C | chr19 | 38894334 | + | SPINT2 | chr19 | 38774267 | + |
| 5CDS-5UTR | ENST00000252530 | ENST00000587090 | FAM98C | chr19 | 38894334 | + | SPINT2 | chr19 | 38774267 | + |
| 5CDS-intron | ENST00000252530 | ENST00000454580 | FAM98C | chr19 | 38894334 | + | SPINT2 | chr19 | 38774267 | + |
| In-frame | ENST00000343358 | ENST00000301244 | FAM98C | chr19 | 38894334 | + | SPINT2 | chr19 | 38774267 | + |
| 5CDS-5UTR | ENST00000343358 | ENST00000587090 | FAM98C | chr19 | 38894334 | + | SPINT2 | chr19 | 38774267 | + |
| 5CDS-intron | ENST00000343358 | ENST00000454580 | FAM98C | chr19 | 38894334 | + | SPINT2 | chr19 | 38774267 | + |
| 3UTR-3CDS | ENST00000585954 | ENST00000301244 | FAM98C | chr19 | 38894334 | + | SPINT2 | chr19 | 38774267 | + |
| 3UTR-5UTR | ENST00000585954 | ENST00000587090 | FAM98C | chr19 | 38894334 | + | SPINT2 | chr19 | 38774267 | + |
| 3UTR-intron | ENST00000585954 | ENST00000454580 | FAM98C | chr19 | 38894334 | + | SPINT2 | chr19 | 38774267 | + |
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FusionProtFeatures for FAM98C_SPINT2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| FAM98C | SPINT2 |