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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:SMAD3-LRP5 (FusionGDB2 ID:83214) |
Fusion Gene Summary for SMAD3-LRP5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SMAD3-LRP5 | Fusion gene ID: 83214 | Hgene | Tgene | Gene symbol | SMAD3 | LRP5 | Gene ID | 4088 | 4041 |
| Gene name | SMAD family member 3 | LDL receptor related protein 5 | |
| Synonyms | HSPC193|HsT17436|JV15-2|LDS1C|LDS3|MADH3 | BMND1|EVR1|EVR4|HBM|LR3|LRP-5|LRP-7|LRP7|OPPG|OPS|OPTA1|PCLD4|VBCH2 | |
| Cytomap | 15q22.33 | 11q13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mothers against decapentaplegic homolog 3MAD homolog 3MAD, mothers against decapentaplegic homolog 3SMA- and MAD-related protein 3SMAD, mothers against DPP homolog 3hMAD-3hSMAD3mad homolog JV15-2mad protein homologmad3mothers against DPP homolog | low-density lipoprotein receptor-related protein 5low density lipoprotein receptor-related protein 5low density lipoprotein receptor-related protein 7 | |
| Modification date | 20200329 | 20200329 | |
| UniProtAcc | . | A4QPB2 | |
| Ensembl transtripts involved in fusion gene | ENST00000327367, ENST00000559092, ENST00000540846, ENST00000439724, ENST00000537194, | ENST00000294304, ENST00000529481, | |
| Fusion gene scores | * DoF score | 17 X 13 X 12=2652 | 17 X 23 X 10=3910 |
| # samples | 30 | 27 | |
| ** MAII score | log2(30/2652*10)=-3.14404636961671 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(27/3910*10)=-3.85613729514388 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SMAD3 [Title/Abstract] AND LRP5 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | SMAD3(67358698)-LRP5(68115315), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | SMAD3-LRP5 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF. SMAD3-LRP5 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. | ||
| * 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 | SMAD3 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 8774881 |
| Hgene | SMAD3 | GO:0006357 | regulation of transcription by RNA polymerase II | 21947082 |
| Hgene | SMAD3 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 9732876|18548003|21947082 |
| Hgene | SMAD3 | GO:0007183 | SMAD protein complex assembly | 9111321|10823886 |
| Hgene | SMAD3 | GO:0010628 | positive regulation of gene expression | 21307346 |
| Hgene | SMAD3 | GO:0010718 | positive regulation of epithelial to mesenchymal transition | 21307346 |
| Hgene | SMAD3 | GO:0030308 | negative regulation of cell growth | 8774881 |
| Hgene | SMAD3 | GO:0045429 | positive regulation of nitric oxide biosynthetic process | 27038547 |
| Hgene | SMAD3 | GO:0045599 | negative regulation of fat cell differentiation | 19816956 |
| Hgene | SMAD3 | GO:0045893 | positive regulation of transcription, DNA-templated | 9111321|9311995|9732876 |
| Hgene | SMAD3 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 8774881|18832382 |
| Hgene | SMAD3 | GO:0051481 | negative regulation of cytosolic calcium ion concentration | 27038547 |
| Hgene | SMAD3 | GO:0071560 | cellular response to transforming growth factor beta stimulus | 12902338 |
| Hgene | SMAD3 | GO:1901203 | positive regulation of extracellular matrix assembly | 21307346 |
| Tgene | LRP5 | GO:0008284 | positive regulation of cell proliferation | 9790987 |
| Tgene | LRP5 | GO:0045840 | positive regulation of mitotic nuclear division | 9790987 |
| Tgene | LRP5 | GO:0045893 | positive regulation of transcription, DNA-templated | 15035989|17955262 |
| Tgene | LRP5 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12857724 |
| Tgene | LRP5 | GO:0060070 | canonical Wnt signaling pathway | 11029007|12121999|12857724|15908424|24706814|25920554 |
| Fusion gene breakpoints across SMAD3 (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 LRP5 (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 |
| ChimerDB4 | SKCM | TCGA-ER-A19T-01A | SMAD3 | chr15 | 67358698 | + | LRP5 | chr11 | 68115315 | + |
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Fusion Gene ORF analysis for SMAD3-LRP5 |
| 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 | ENST00000327367 | ENST00000294304 | SMAD3 | chr15 | 67358698 | + | LRP5 | chr11 | 68115315 | + |
| 5CDS-intron | ENST00000327367 | ENST00000529481 | SMAD3 | chr15 | 67358698 | + | LRP5 | chr11 | 68115315 | + |
| intron-3CDS | ENST00000559092 | ENST00000294304 | SMAD3 | chr15 | 67358698 | + | LRP5 | chr11 | 68115315 | + |
| intron-intron | ENST00000559092 | ENST00000529481 | SMAD3 | chr15 | 67358698 | + | LRP5 | chr11 | 68115315 | + |
| intron-3CDS | ENST00000540846 | ENST00000294304 | SMAD3 | chr15 | 67358698 | + | LRP5 | chr11 | 68115315 | + |
| intron-intron | ENST00000540846 | ENST00000529481 | SMAD3 | chr15 | 67358698 | + | LRP5 | chr11 | 68115315 | + |
| intron-3CDS | ENST00000439724 | ENST00000294304 | SMAD3 | chr15 | 67358698 | + | LRP5 | chr11 | 68115315 | + |
| intron-intron | ENST00000439724 | ENST00000529481 | SMAD3 | chr15 | 67358698 | + | LRP5 | chr11 | 68115315 | + |
| intron-3CDS | ENST00000537194 | ENST00000294304 | SMAD3 | chr15 | 67358698 | + | LRP5 | chr11 | 68115315 | + |
| intron-intron | ENST00000537194 | ENST00000529481 | SMAD3 | chr15 | 67358698 | + | LRP5 | chr11 | 68115315 | + |
| 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 SMAD3-LRP5 |
| 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) |
| SMAD3 | chr15 | 67358698 | + | LRP5 | chr11 | 68115314 | + | 5.14E-10 | 1 |
| SMAD3 | chr15 | 67358698 | + | LRP5 | chr11 | 68115314 | + | 5.14E-10 | 1 |
| 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 SMAD3-LRP5 |
| 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 |
| . | LRP5 |
| 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. |
| 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 SMAD3-LRP5 |
| 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 SMAD3-LRP5 |
| 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 SMAD3-LRP5 |
| 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 |
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Related Diseases for SMAD3-LRP5 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SMAD3 | C3151087 | LOEYS-DIETZ SYNDROME 3 | 8 | CLINGEN;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | SMAD3 | C4707243 | Familial thoracic aortic aneurysm and aortic dissection | 5 | CLINGEN;GENOMICS_ENGLAND |
| Hgene | SMAD3 | C0029408 | Degenerative polyarthritis | 2 | CTD_human |
| Hgene | SMAD3 | C0086743 | Osteoarthrosis Deformans | 2 | CTD_human |
| Hgene | SMAD3 | C0376634 | Craniofacial Abnormalities | 2 | CTD_human |
| Hgene | SMAD3 | C2697932 | Loeys-Dietz Syndrome | 2 | CTD_human;GENOMICS_ENGLAND |
| Hgene | SMAD3 | C0002949 | Aneurysm, Dissecting | 1 | CTD_human |
| Hgene | SMAD3 | C0003486 | Aortic Aneurysm | 1 | CTD_human |
| Hgene | SMAD3 | C0009171 | Cocaine Abuse | 1 | CTD_human |
| Hgene | SMAD3 | C0009402 | Colorectal Carcinoma | 1 | CTD_human;UNIPROT |
| Hgene | SMAD3 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| Hgene | SMAD3 | C0010346 | Crohn Disease | 1 | CTD_human |
| Hgene | SMAD3 | C0023267 | Fibroid Tumor | 1 | CTD_human |
| Hgene | SMAD3 | C0023890 | Liver Cirrhosis | 1 | CTD_human |
| Hgene | SMAD3 | C0023891 | Liver Cirrhosis, Alcoholic | 1 | CTD_human |
| Hgene | SMAD3 | C0029410 | Osteoarthritis of hip | 1 | CTD_human |
| Hgene | SMAD3 | C0034067 | Pulmonary Emphysema | 1 | GENOMICS_ENGLAND |
| Hgene | SMAD3 | C0041956 | Ureteral obstruction | 1 | CTD_human |
| Hgene | SMAD3 | C0042133 | Uterine Fibroids | 1 | CTD_human |
| Hgene | SMAD3 | C0042138 | Uterine Neoplasms | 1 | CTD_human |
| Hgene | SMAD3 | C0087031 | Juvenile-Onset Still Disease | 1 | CTD_human |
| Hgene | SMAD3 | C0153567 | Uterine Cancer | 1 | CTD_human |
| Hgene | SMAD3 | C0156147 | Crohn's disease of large bowel | 1 | CTD_human |
| Hgene | SMAD3 | C0236736 | Cocaine-Related Disorders | 1 | CTD_human |
| Hgene | SMAD3 | C0239946 | Fibrosis, Liver | 1 | CTD_human |
| Hgene | SMAD3 | C0267380 | Crohn's disease of the ileum | 1 | CTD_human |
| Hgene | SMAD3 | C0340643 | Dissection of aorta | 1 | CTD_human |
| Hgene | SMAD3 | C0600427 | Cocaine Dependence | 1 | CTD_human |
| Hgene | SMAD3 | C0600519 | Ventricular Remodeling | 1 | CTD_human |
| Hgene | SMAD3 | C0600520 | Left Ventricle Remodeling | 1 | CTD_human |
| Hgene | SMAD3 | C0678202 | Regional enteritis | 1 | CTD_human |
| Hgene | SMAD3 | C0949272 | IIeocolitis | 1 | CTD_human |
| Hgene | SMAD3 | C1836635 | Loeys-Dietz Aortic Aneurysm Syndrome | 1 | CTD_human |
| Hgene | SMAD3 | C3495559 | Juvenile arthritis | 1 | CTD_human |
| Hgene | SMAD3 | C3714758 | Juvenile psoriatic arthritis | 1 | CTD_human |
| Hgene | SMAD3 | C4277533 | Dissection, Blood Vessel | 1 | CTD_human |
| Hgene | SMAD3 | C4551955 | Loeys-Dietz Syndrome, Type 1a | 1 | CTD_human |
| Hgene | SMAD3 | C4552091 | Polyarthritis, Juvenile, Rheumatoid Factor Negative | 1 | CTD_human |
| Hgene | SMAD3 | C4704862 | Polyarthritis, Juvenile, Rheumatoid Factor Positive | 1 | CTD_human |
| Tgene | LRP5 | C1866176 | EXUDATIVE VITREORETINOPATHY 4 (disorder) | 10 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Tgene | LRP5 | C0432252 | Osteoporosis with pseudoglioma | 8 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Tgene | LRP5 | C1866079 | BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1 | 6 | GENOMICS_ENGLAND;UNIPROT |
| Tgene | LRP5 | C1843330 | OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 | 4 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Tgene | LRP5 | C4693479 | POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS | 3 | GENOMICS_ENGLAND;UNIPROT |
| Tgene | LRP5 | C0432273 | Worth disease | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Tgene | LRP5 | C1843323 | Van Buchem disease type 2 | 2 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Tgene | LRP5 | C0015397 | Disorder of eye | 1 | GENOMICS_ENGLAND |
| Tgene | LRP5 | C0035344 | Retinopathy of Prematurity | 1 | ORPHANET |
| Tgene | LRP5 | C0151879 | Shortened QT interval | 1 | GENOMICS_ENGLAND |
| Tgene | LRP5 | C0158683 | Polycystic liver disease | 1 | ORPHANET |
| Tgene | LRP5 | C0242852 | Proliferative vitreoretinopathy | 1 | CTD_human |
| Tgene | LRP5 | C0339539 | Familial Exudative Vitreoretinopathy | 1 | CTD_human |
| Tgene | LRP5 | C0432272 | Van Buchem disease | 1 | ORPHANET |
| Tgene | LRP5 | C1851402 | Exudative vitreoretinopathy 1 | 1 | CTD_human;UNIPROT |
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