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Fusion gene ID: 8802 |
FusionGeneSummary for CTIF_TIMP2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CTIF_TIMP2 | Fusion gene ID: 8802 | Hgene | Tgene | Gene symbol | CTIF | TIMP2 | Gene ID | 9811 | 7077 |
| Gene name | cap binding complex dependent translation initiation factor | TIMP metallopeptidase inhibitor 2 | |
| Synonyms | Gm672|KIAA0427 | CSC-21K|DDC8 | |
| Cytomap | 18q21.1 | 17q25.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | CBP80/20-dependent translation initiation factor | metalloproteinase inhibitor 2testicular secretory protein Li 57tissue inhibitor of metalloproteinases 2 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O43310 | P16035 | |
| Ensembl transtripts involved in fusion gene | ENST00000256413, ENST00000382998, ENST00000592658, | ENST00000585421, ENST00000536189, ENST00000262768, ENST00000586057, | |
| Fusion gene scores | * DoF score | 12 X 7 X 8=672 | 8 X 13 X 3=312 |
| # samples | 12 | 13 | |
| ** MAII score | log2(12/672*10)=-2.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(13/312*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CTIF [Title/Abstract] AND TIMP2 [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 |
| Tgene | TIMP2 | GO:1905049 | negative regulation of metallopeptidase activity | 9573338 |
| 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 |
| ChiTaRS3.1 | BE008175 | CTIF | chr18 | 46190278 | - | TIMP2 | chr17 | 76849680 | + |
| * 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 |
| intron-3UTR | ENST00000256413 | ENST00000585421 | CTIF | chr18 | 46190278 | - | TIMP2 | chr17 | 76849680 | + |
| intron-3UTR | ENST00000256413 | ENST00000536189 | CTIF | chr18 | 46190278 | - | TIMP2 | chr17 | 76849680 | + |
| intron-3UTR | ENST00000256413 | ENST00000262768 | CTIF | chr18 | 46190278 | - | TIMP2 | chr17 | 76849680 | + |
| intron-3UTR | ENST00000256413 | ENST00000586057 | CTIF | chr18 | 46190278 | - | TIMP2 | chr17 | 76849680 | + |
| intron-3UTR | ENST00000382998 | ENST00000585421 | CTIF | chr18 | 46190278 | - | TIMP2 | chr17 | 76849680 | + |
| intron-3UTR | ENST00000382998 | ENST00000536189 | CTIF | chr18 | 46190278 | - | TIMP2 | chr17 | 76849680 | + |
| intron-3UTR | ENST00000382998 | ENST00000262768 | CTIF | chr18 | 46190278 | - | TIMP2 | chr17 | 76849680 | + |
| intron-3UTR | ENST00000382998 | ENST00000586057 | CTIF | chr18 | 46190278 | - | TIMP2 | chr17 | 76849680 | + |
| intron-3UTR | ENST00000592658 | ENST00000585421 | CTIF | chr18 | 46190278 | - | TIMP2 | chr17 | 76849680 | + |
| intron-3UTR | ENST00000592658 | ENST00000536189 | CTIF | chr18 | 46190278 | - | TIMP2 | chr17 | 76849680 | + |
| intron-3UTR | ENST00000592658 | ENST00000262768 | CTIF | chr18 | 46190278 | - | TIMP2 | chr17 | 76849680 | + |
| intron-3UTR | ENST00000592658 | ENST00000586057 | CTIF | chr18 | 46190278 | - | TIMP2 | chr17 | 76849680 | + |
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FusionProtFeatures for CTIF_TIMP2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CTIF | TIMP2 |
| Specifically required for the pioneer round of mRNAtranslation mediated by the cap-binding complex (CBC), that takesplace during or right after mRNA export via the nuclear porecomplex (NPC). Acts via its interaction with the NCBP1/CBP80component of the CBC complex and recruits the 40S small subunit ofthe ribosome via eIF3. In contrast, it is not involved in steadystate translation, that takes place when the CBC complex isreplaced by cytoplasmic cap-binding protein eIF4E. Also requiredfor nonsense-mediated mRNA decay (NMD), the pioneer round of mRNAtranslation mediated by the cap-binding complex playing a centralrole in nonsense-mediated mRNA decay (NMD).{ECO:0000269|PubMed:19648179}. | Complexes with metalloproteinases (such as collagenases)and irreversibly inactivates them by binding to their catalyticzinc cofactor. Known to act on MMP-1, MMP-2, MMP-3, MMP-7, MMP-8,MMP-9, MMP-10, MMP-13, MMP-14, MMP-15, MMP-16 and MMP-19.{ECO:0000269|PubMed:11710594, ECO:0000269|PubMed:2554304,ECO:0000269|PubMed:2793861}. |
| 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 CTIF_TIMP2 |
| 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 CTIF_TIMP2 |
| 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 |
| - 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 CTIF_TIMP2 |
| 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 CTIF_TIMP2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | TIMP2 | C0000786 | Spontaneous abortion | 1 | CTD_human |
| Tgene | TIMP2 | C0006663 | Calcinosis | 1 | CTD_human |
| Tgene | TIMP2 | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
| Tgene | TIMP2 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | TIMP2 | C0027051 | Myocardial Infarction | 1 | CTD_human |
| Tgene | TIMP2 | C0028797 | Occupational Diseases | 1 | CTD_human |
| Tgene | TIMP2 | C0032226 | Pleural Diseases | 1 | CTD_human |
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