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Fusion gene ID: 38126 |
FusionGeneSummary for TIMP3_SPCS3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TIMP3_SPCS3 | Fusion gene ID: 38126 | Hgene | Tgene | Gene symbol | TIMP3 | SPCS3 | Gene ID | 7078 | 60559 |
| Gene name | TIMP metallopeptidase inhibitor 3 | signal peptidase complex subunit 3 | |
| Synonyms | HSMRK222|K222|K222TA2|SFD | PRO3567|SPC22/23|SPC3|YLR066W | |
| Cytomap | 22q12.3 | 4q34.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | metalloproteinase inhibitor 3MIG-5 proteinTIMP-3protein MIG-5tissue inhibitor of metalloproteinases 3 | signal peptidase complex subunit 3SPase 22 kDa subunitSPase 22/23 kDa subunitmicrosomal signal peptidase 22/23 kDa subunitmicrosomal signal peptidase 23 kDa subunitsignal peptidase complex subunit 3 homolog | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | P35625 | P61009 | |
| Ensembl transtripts involved in fusion gene | ENST00000266085, | ENST00000503362, ENST00000507001, | |
| Fusion gene scores | * DoF score | 3 X 2 X 3=18 | 3 X 1 X 1=3 |
| # samples | 3 | 3 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(3/3*10)=3.32192809488736 | |
| Context | PubMed: TIMP3 [Title/Abstract] AND SPCS3 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | 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 | SPCS3 | GO:0006508 | proteolysis | 27499293 |
| 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 | PRAD | TCGA-HC-7745-01A | TIMP3 | chr22 | 33259030 | + | SPCS3 | chr4 | 177243321 | + |
| * 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 |
| Frame-shift | ENST00000266085 | ENST00000503362 | TIMP3 | chr22 | 33259030 | + | SPCS3 | chr4 | 177243321 | + |
| 5CDS-intron | ENST00000266085 | ENST00000507001 | TIMP3 | chr22 | 33259030 | + | SPCS3 | chr4 | 177243321 | + |
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FusionProtFeatures for TIMP3_SPCS3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TIMP3 | SPCS3 |