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Fusion gene ID: 20362 |
FusionGeneSummary for LTBP1_UCMA |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: LTBP1_UCMA | Fusion gene ID: 20362 | Hgene | Tgene | Gene symbol | LTBP1 | UCMA | Gene ID | 4052 | 221044 |
| Gene name | latent transforming growth factor beta binding protein 1 | upper zone of growth plate and cartilage matrix associated | |
| Synonyms | - | C10orf49|GRP|GRP/UCMA | |
| Cytomap | 2p22.3 | 10p13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | latent-transforming growth factor beta-binding protein 1LTBP-1TGF-beta1-BP-1transforming growth factor beta-1-binding protein 1 | unique cartilage matrix-associated proteinGla-rich protein | |
| Modification date | 20180522 | 20180519 | |
| UniProtAcc | Q14766 | Q8WVF2 | |
| Ensembl transtripts involved in fusion gene | ENST00000404816, ENST00000354476, ENST00000390003, ENST00000418533, ENST00000402934, ENST00000404525, ENST00000407925, ENST00000272273, ENST00000498013, | ENST00000378681, ENST00000463405, | |
| Fusion gene scores | * DoF score | 8 X 7 X 9=504 | 2 X 2 X 2=8 |
| # samples | 15 | 2 | |
| ** MAII score | log2(15/504*10)=-1.74846123300404 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: LTBP1 [Title/Abstract] AND UCMA [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 |
| 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 | SARC | TCGA-DX-A3U5-01A | LTBP1 | chr2 | 33174012 | + | UCMA | chr10 | 13264200 | - |
| * 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 | ENST00000404816 | ENST00000378681 | LTBP1 | chr2 | 33174012 | + | UCMA | chr10 | 13264200 | - |
| Frame-shift | ENST00000404816 | ENST00000463405 | LTBP1 | chr2 | 33174012 | + | UCMA | chr10 | 13264200 | - |
| Frame-shift | ENST00000354476 | ENST00000378681 | LTBP1 | chr2 | 33174012 | + | UCMA | chr10 | 13264200 | - |
| Frame-shift | ENST00000354476 | ENST00000463405 | LTBP1 | chr2 | 33174012 | + | UCMA | chr10 | 13264200 | - |
| intron-3CDS | ENST00000390003 | ENST00000378681 | LTBP1 | chr2 | 33174012 | + | UCMA | chr10 | 13264200 | - |
| intron-3CDS | ENST00000390003 | ENST00000463405 | LTBP1 | chr2 | 33174012 | + | UCMA | chr10 | 13264200 | - |
| intron-3CDS | ENST00000418533 | ENST00000378681 | LTBP1 | chr2 | 33174012 | + | UCMA | chr10 | 13264200 | - |
| intron-3CDS | ENST00000418533 | ENST00000463405 | LTBP1 | chr2 | 33174012 | + | UCMA | chr10 | 13264200 | - |
| intron-3CDS | ENST00000402934 | ENST00000378681 | LTBP1 | chr2 | 33174012 | + | UCMA | chr10 | 13264200 | - |
| intron-3CDS | ENST00000402934 | ENST00000463405 | LTBP1 | chr2 | 33174012 | + | UCMA | chr10 | 13264200 | - |
| intron-3CDS | ENST00000404525 | ENST00000378681 | LTBP1 | chr2 | 33174012 | + | UCMA | chr10 | 13264200 | - |
| intron-3CDS | ENST00000404525 | ENST00000463405 | LTBP1 | chr2 | 33174012 | + | UCMA | chr10 | 13264200 | - |
| intron-3CDS | ENST00000407925 | ENST00000378681 | LTBP1 | chr2 | 33174012 | + | UCMA | chr10 | 13264200 | - |
| intron-3CDS | ENST00000407925 | ENST00000463405 | LTBP1 | chr2 | 33174012 | + | UCMA | chr10 | 13264200 | - |
| intron-3CDS | ENST00000272273 | ENST00000378681 | LTBP1 | chr2 | 33174012 | + | UCMA | chr10 | 13264200 | - |
| intron-3CDS | ENST00000272273 | ENST00000463405 | LTBP1 | chr2 | 33174012 | + | UCMA | chr10 | 13264200 | - |
| intron-3CDS | ENST00000498013 | ENST00000378681 | LTBP1 | chr2 | 33174012 | + | UCMA | chr10 | 13264200 | - |
| intron-3CDS | ENST00000498013 | ENST00000463405 | LTBP1 | chr2 | 33174012 | + | UCMA | chr10 | 13264200 | - |
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FusionProtFeatures for LTBP1_UCMA |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| LTBP1 | UCMA |
| May be involved in the assembly, secretion and targetingof TGFB1 to sites at which it is stored and/or activated. May playcritical roles in controlling and directing the activity of TGFB1.May have a structural role in the extracellular matrix (ECM). | May be involved in the negative control of osteogenicdifferentiation of osteochondrogenic precursor cells in peripheralzones of fetal cartilage and at the cartilage-bone interface.{ECO:0000250}. |
| 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 LTBP1_UCMA |
| 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 LTBP1_UCMA |
| 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 |
| LTBP1 | TGFB1, CACNA1A, ATN1, SMURF1, FBXO6, HLA-DPA1, GINM1, ZFP41, IGFBP3, IGFBP5, MED23, ALKBH3, ZNF131, PTPN4, BCHE, KLRG2, ZNF408, KBTBD7, PCDHB11, PCDH20, PCDH12, CSN1S1, EFEMP1, MMP10, VWCE, PCDHGB4, PCDHGA5, PCDHA4, CDH5, DEFA5, MMP3, C4orf26, PCDHA12, LOXL3 | UCMA | KRT40 |
| - 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 LTBP1_UCMA |
| 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 LTBP1_UCMA |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | LTBP1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
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