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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:TGFBR1-CANX (FusionGDB2 ID:89843) |
Fusion Gene Summary for TGFBR1-CANX |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TGFBR1-CANX | Fusion gene ID: 89843 | Hgene | Tgene | Gene symbol | TGFBR1 | CANX | Gene ID | 7046 | 821 |
| Gene name | transforming growth factor beta receptor 1 | calnexin | |
| Synonyms | AAT5|ACVRLK4|ALK-5|ALK5|ESS1|LDS1|LDS1A|LDS2A|MSSE|SKR4|TBR-i|TBRI|TGFR-1|tbetaR-I | CNX|IP90|P90 | |
| Cytomap | 9q22.33 | 5q35.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | TGF-beta receptor type-1activin A receptor type II-like kinase, 53kDaactivin A receptor type II-like protein kinase of 53kDactivin receptor-like kinase 5mutant transforming growth factor beta receptor Iserine/threonine-protein kinase receptor R4tran | calnexinepididymis secretory sperm binding proteinmajor histocompatibility complex class I antigen-binding protein p88 | |
| Modification date | 20200329 | 20200313 | |
| UniProtAcc | . | P27824 | |
| Ensembl transtripts involved in fusion gene | ENST00000374994, ENST00000374990, ENST00000552516, ENST00000550253, | ENST00000504734, ENST00000415618, ENST00000452673, ENST00000247461, ENST00000512607, ENST00000503126, | |
| Fusion gene scores | * DoF score | 4 X 4 X 3=48 | 16 X 18 X 2=576 |
| # samples | 4 | 19 | |
| ** MAII score | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(19/576*10)=-1.60006939311136 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: TGFBR1 [Title/Abstract] AND CANX [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | TGFBR1(101915624)-CANX(179155621), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | |||
| * 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 |
| Hgene | TGFBR1 | GO:0000186 | activation of MAPKK activity | 18625725 |
| Hgene | TGFBR1 | GO:0001837 | epithelial to mesenchymal transition | 15761148 |
| Hgene | TGFBR1 | GO:0006355 | regulation of transcription, DNA-templated | 14517293 |
| Hgene | TGFBR1 | GO:0006468 | protein phosphorylation | 12015308|12065756 |
| Hgene | TGFBR1 | GO:0007165 | signal transduction | 14633705 |
| Hgene | TGFBR1 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 9389648|11157754 |
| Hgene | TGFBR1 | GO:0010862 | positive regulation of pathway-restricted SMAD protein phosphorylation | 9311995|9389648 |
| Hgene | TGFBR1 | GO:0018105 | peptidyl-serine phosphorylation | 15761148 |
| Hgene | TGFBR1 | GO:0018107 | peptidyl-threonine phosphorylation | 19736306 |
| Hgene | TGFBR1 | GO:0030307 | positive regulation of cell growth | 18625725 |
| Hgene | TGFBR1 | GO:0030335 | positive regulation of cell migration | 19736306 |
| Hgene | TGFBR1 | GO:0031396 | regulation of protein ubiquitination | 18758450 |
| Hgene | TGFBR1 | GO:0045893 | positive regulation of transcription, DNA-templated | 9311995|9389648 |
| Hgene | TGFBR1 | GO:0051897 | positive regulation of protein kinase B signaling | 18625725 |
| Hgene | TGFBR1 | GO:0060389 | pathway-restricted SMAD protein phosphorylation | 11157754|12015308|18625725|19736306 |
| Hgene | TGFBR1 | GO:0060391 | positive regulation of SMAD protein signal transduction | 9389648 |
| Hgene | TGFBR1 | GO:0070723 | response to cholesterol | 17878231 |
| Hgene | TGFBR1 | GO:0071560 | cellular response to transforming growth factor beta stimulus | 19494318 |
| Hgene | TGFBR1 | GO:2001235 | positive regulation of apoptotic signaling pathway | 18758450 |
| Fusion gene breakpoints across TGFBR1 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across CANX (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS5.0 | N/A | BE150450 | TGFBR1 | chr9 | 101915624 | - | CANX | chr5 | 179155621 | + |
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Fusion Gene ORF analysis for TGFBR1-CANX |
| 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 |
| 3UTR-3CDS | ENST00000374994 | ENST00000504734 | TGFBR1 | chr9 | 101915624 | - | CANX | chr5 | 179155621 | + |
| 3UTR-3CDS | ENST00000374994 | ENST00000415618 | TGFBR1 | chr9 | 101915624 | - | CANX | chr5 | 179155621 | + |
| 3UTR-3CDS | ENST00000374994 | ENST00000452673 | TGFBR1 | chr9 | 101915624 | - | CANX | chr5 | 179155621 | + |
| 3UTR-3CDS | ENST00000374994 | ENST00000247461 | TGFBR1 | chr9 | 101915624 | - | CANX | chr5 | 179155621 | + |
| 3UTR-3CDS | ENST00000374994 | ENST00000512607 | TGFBR1 | chr9 | 101915624 | - | CANX | chr5 | 179155621 | + |
| 3UTR-intron | ENST00000374994 | ENST00000503126 | TGFBR1 | chr9 | 101915624 | - | CANX | chr5 | 179155621 | + |
| 3UTR-3CDS | ENST00000374990 | ENST00000504734 | TGFBR1 | chr9 | 101915624 | - | CANX | chr5 | 179155621 | + |
| 3UTR-3CDS | ENST00000374990 | ENST00000415618 | TGFBR1 | chr9 | 101915624 | - | CANX | chr5 | 179155621 | + |
| 3UTR-3CDS | ENST00000374990 | ENST00000452673 | TGFBR1 | chr9 | 101915624 | - | CANX | chr5 | 179155621 | + |
| 3UTR-3CDS | ENST00000374990 | ENST00000247461 | TGFBR1 | chr9 | 101915624 | - | CANX | chr5 | 179155621 | + |
| 3UTR-3CDS | ENST00000374990 | ENST00000512607 | TGFBR1 | chr9 | 101915624 | - | CANX | chr5 | 179155621 | + |
| 3UTR-intron | ENST00000374990 | ENST00000503126 | TGFBR1 | chr9 | 101915624 | - | CANX | chr5 | 179155621 | + |
| 3UTR-3CDS | ENST00000552516 | ENST00000504734 | TGFBR1 | chr9 | 101915624 | - | CANX | chr5 | 179155621 | + |
| 3UTR-3CDS | ENST00000552516 | ENST00000415618 | TGFBR1 | chr9 | 101915624 | - | CANX | chr5 | 179155621 | + |
| 3UTR-3CDS | ENST00000552516 | ENST00000452673 | TGFBR1 | chr9 | 101915624 | - | CANX | chr5 | 179155621 | + |
| 3UTR-3CDS | ENST00000552516 | ENST00000247461 | TGFBR1 | chr9 | 101915624 | - | CANX | chr5 | 179155621 | + |
| 3UTR-3CDS | ENST00000552516 | ENST00000512607 | TGFBR1 | chr9 | 101915624 | - | CANX | chr5 | 179155621 | + |
| 3UTR-intron | ENST00000552516 | ENST00000503126 | TGFBR1 | chr9 | 101915624 | - | CANX | chr5 | 179155621 | + |
| intron-3CDS | ENST00000550253 | ENST00000504734 | TGFBR1 | chr9 | 101915624 | - | CANX | chr5 | 179155621 | + |
| intron-3CDS | ENST00000550253 | ENST00000415618 | TGFBR1 | chr9 | 101915624 | - | CANX | chr5 | 179155621 | + |
| intron-3CDS | ENST00000550253 | ENST00000452673 | TGFBR1 | chr9 | 101915624 | - | CANX | chr5 | 179155621 | + |
| intron-3CDS | ENST00000550253 | ENST00000247461 | TGFBR1 | chr9 | 101915624 | - | CANX | chr5 | 179155621 | + |
| intron-3CDS | ENST00000550253 | ENST00000512607 | TGFBR1 | chr9 | 101915624 | - | CANX | chr5 | 179155621 | + |
| intron-intron | ENST00000550253 | ENST00000503126 | TGFBR1 | chr9 | 101915624 | - | CANX | chr5 | 179155621 | + |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for TGFBR1-CANX |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for TGFBR1-CANX |
| Go to FGviewer for the breakpoints of :-: - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| . | CANX |
| FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. | FUNCTION: Calcium-binding protein that interacts with newly synthesized glycoproteins in the endoplasmic reticulum. It may act in assisting protein assembly and/or in the retention within the ER of unassembled protein subunits. It seems to play a major role in the quality control apparatus of the ER by the retention of incorrectly folded proteins. Associated with partial T-cell antigen receptor complexes that escape the ER of immature thymocytes, it may function as a signaling complex regulating thymocyte maturation. Additionally it may play a role in receptor-mediated endocytosis at the synapse. |
| 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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Fusion Gene Sequence for TGFBR1-CANX |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for TGFBR1-CANX |
| 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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Related Drugs for TGFBR1-CANX |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | CANX | P27824 | DB00031 | Tenecteplase | Biotech | Approved | |
| Tgene | CANX | P27824 | DB11348 | Calcium Phosphate | Ligand | Small molecule | Approved |
| Tgene | CANX | P27824 | DB13999 | Moroctocog alfa | Chaperone | Biotech | Approved |
| Tgene | CANX | P27824 | DB14481 | Calcium phosphate dihydrate | Small molecule | Approved | |
| Tgene | CANX | P27824 | DB00025 | Antihemophilic factor, human recombinant | Chaperone | Biotech | Approved|Investigational |
| Tgene | CANX | P27824 | DB11093 | Calcium citrate | Ligand | Small molecule | Approved|Investigational |
| Tgene | CANX | P27824 | DB13998 | Lonoctocog alfa | Chaperone | Biotech | Approved|Investigational |
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Related Diseases for TGFBR1-CANX |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TGFBR1 | C4551955 | Loeys-Dietz Syndrome, Type 1a | 12 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Hgene | TGFBR1 | C2697932 | Loeys-Dietz Syndrome | 10 | CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET |
| Hgene | TGFBR1 | C4707243 | Familial thoracic aortic aneurysm and aortic dissection | 8 | CLINGEN;GENOMICS_ENGLAND |
| Hgene | TGFBR1 | C1836635 | Loeys-Dietz Aortic Aneurysm Syndrome | 4 | CTD_human;ORPHANET |
| Hgene | TGFBR1 | C0345982 | Multiple self-healing epithelioma of Ferguson-Smith | 3 | CLINGEN |
| Hgene | TGFBR1 | C0000786 | Spontaneous abortion | 1 | CTD_human |
| Hgene | TGFBR1 | C0000822 | Abortion, Tubal | 1 | CTD_human |
| Hgene | TGFBR1 | C0002949 | Aneurysm, Dissecting | 1 | CTD_human |
| Hgene | TGFBR1 | C0007114 | Malignant neoplasm of skin | 1 | CTD_human |
| Hgene | TGFBR1 | C0009402 | Colorectal Carcinoma | 1 | CTD_human |
| Hgene | TGFBR1 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| Hgene | TGFBR1 | C0019193 | Hepatitis, Toxic | 1 | CTD_human |
| Hgene | TGFBR1 | C0023890 | Liver Cirrhosis | 1 | CTD_human |
| Hgene | TGFBR1 | C0034067 | Pulmonary Emphysema | 1 | GENOMICS_ENGLAND |
| Hgene | TGFBR1 | C0037286 | Skin Neoplasms | 1 | CTD_human |
| Hgene | TGFBR1 | C0041948 | Uremia | 1 | CTD_human |
| Hgene | TGFBR1 | C0239946 | Fibrosis, Liver | 1 | CTD_human |
| Hgene | TGFBR1 | C0340643 | Dissection of aorta | 1 | CTD_human |
| Hgene | TGFBR1 | C0546476 | Multiple self-healing squamous epithelioma | 1 | CTD_human;ORPHANET |
| Hgene | TGFBR1 | C0860207 | Drug-Induced Liver Disease | 1 | CTD_human |
| Hgene | TGFBR1 | C1262760 | Hepatitis, Drug-Induced | 1 | CTD_human |
| Hgene | TGFBR1 | C3658290 | Drug-Induced Acute Liver Injury | 1 | CTD_human |
| Hgene | TGFBR1 | C3830362 | Early Pregnancy Loss | 1 | CTD_human |
| Hgene | TGFBR1 | C4083047 | MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO | 1 | UNIPROT |
| Hgene | TGFBR1 | C4277533 | Dissection, Blood Vessel | 1 | CTD_human |
| Hgene | TGFBR1 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
| Hgene | TGFBR1 | C4279912 | Chemically-Induced Liver Toxicity | 1 | CTD_human |
| Hgene | TGFBR1 | C4552766 | Miscarriage | 1 | CTD_human |
| Tgene | CANX | C0019193 | Hepatitis, Toxic | 1 | CTD_human |
| Tgene | CANX | C0151744 | Myocardial Ischemia | 1 | CTD_human |
| Tgene | CANX | C0860207 | Drug-Induced Liver Disease | 1 | CTD_human |
| Tgene | CANX | C1262760 | Hepatitis, Drug-Induced | 1 | CTD_human |
| Tgene | CANX | C3658290 | Drug-Induced Acute Liver Injury | 1 | CTD_human |
| Tgene | CANX | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
| Tgene | CANX | C4279912 | Chemically-Induced Liver Toxicity | 1 | CTD_human |
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