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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 |
| Complexes with metalloproteinases (such as collagenases)and irreversibly inactivates them by binding to their catalyticzinc cofactor. May form part of a tissue-specific acute responseto remodeling stimuli. Known to act on MMP-1, MMP-2, MMP-3, MMP-7,MMP-9, MMP-13, MMP-14 and MMP-15. | Component of the microsomal signal peptidase complexwhich removes signal peptides and other N-terminal peptides fromnascent proteins as they are translocated into the lumen of theendoplasmic reticulum. {ECO:0000269|PubMed:27499293}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for TIMP3_SPCS3 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for TIMP3_SPCS3 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| TIMP3 | MMP2, ADAM17, AGTR2, COLEC11, ASGR2, TIMP2, COLEC10, MMP3, IFI30, NELL1, CRP, ADPGK, KLRG2, APP, CSN1S1, VWCE, DKK3, FAM136A, IGFBP1, DEFA1 | SPCS3 | FBXO6, TCTN2, TCTN3, EVC2, TCTN1, TMEM17, TMEM216, TMEM67, MCM2, SEC11C, PTPRO, TRIM25 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for TIMP3_SPCS3 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for TIMP3_SPCS3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TIMP3 | C1850938 | FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY | 5 | CTD_human;ORPHANET;UNIPROT |
| Hgene | TIMP3 | C0000786 | Spontaneous abortion | 1 | CTD_human |
| Hgene | TIMP3 | C0004096 | Asthma | 1 | CTD_human |
| Hgene | TIMP3 | C0005686 | Urinary Bladder Diseases | 1 | CTD_human |
| Hgene | TIMP3 | C0009319 | Colitis | 1 | CTD_human |
| Hgene | TIMP3 | C0023895 | Liver diseases | 1 | CTD_human |
| Hgene | TIMP3 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
| Hgene | TIMP3 | C0036323 | Schistosomiasis | 1 | CTD_human |
| Hgene | TIMP3 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Hgene | TIMP3 | C0235032 | Neurotoxicity Syndromes | 1 | CTD_human |
| Hgene | TIMP3 | C0242383 | Age related macular degeneration | 1 | CTD_human |
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