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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:SPATC1L-IGF1 (FusionGDB2 ID:85593) |
Fusion Gene Summary for SPATC1L-IGF1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SPATC1L-IGF1 | Fusion gene ID: 85593 | Hgene | Tgene | Gene symbol | SPATC1L | IGF1 | Gene ID | 84221 | 3479 |
| Gene name | spermatogenesis and centriole associated 1 like | insulin like growth factor 1 | |
| Synonyms | C21orf56 | IGF|IGF-I|IGFI|MGF | |
| Cytomap | 21q22.3 | 12q23.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | speriolin-like proteinspermatogenesis and centriole-associated protein 1-like protein | insulin-like growth factor Iinsulin-like growth factor 1 (somatomedin C)insulin-like growth factor IBmechano growth factorsomatomedin-C | |
| Modification date | 20200313 | 20200322 | |
| UniProtAcc | Q9H0A9 | P08069 | |
| Ensembl transtripts involved in fusion gene | ENST00000291672, ENST00000330205, | ENST00000337514, ENST00000456098, ENST00000307046, ENST00000392904, ENST00000424202, ENST00000481539, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 6 X 5 X 5=150 |
| # samples | 2 | 6 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(6/150*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SPATC1L [Title/Abstract] AND IGF1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | SPATC1L(47604270)-IGF1(102813468), # 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 |
| Tgene | IGF1 | GO:0001775 | cell activation | 22797923 |
| Tgene | IGF1 | GO:0008284 | positive regulation of cell proliferation | 7688386|9722506|12746903 |
| Tgene | IGF1 | GO:0009408 | response to heat | 11404306 |
| Tgene | IGF1 | GO:0010613 | positive regulation of cardiac muscle hypertrophy | 19654000 |
| Tgene | IGF1 | GO:0010629 | negative regulation of gene expression | 29167509 |
| Tgene | IGF1 | GO:0014068 | positive regulation of phosphatidylinositol 3-kinase signaling | 7688386 |
| Tgene | IGF1 | GO:0014834 | skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration | 17531227 |
| Tgene | IGF1 | GO:0014904 | myotube cell development | 17531227 |
| Tgene | IGF1 | GO:0014911 | positive regulation of smooth muscle cell migration | 10766744 |
| Tgene | IGF1 | GO:0030166 | proteoglycan biosynthetic process | 12746903 |
| Tgene | IGF1 | GO:0034392 | negative regulation of smooth muscle cell apoptotic process | 16942485 |
| Tgene | IGF1 | GO:0035630 | bone mineralization involved in bone maturation | 16433617 |
| Tgene | IGF1 | GO:0042104 | positive regulation of activated T cell proliferation | 15694994 |
| Tgene | IGF1 | GO:0042531 | positive regulation of tyrosine phosphorylation of STAT protein | 9722506 |
| Tgene | IGF1 | GO:0043388 | positive regulation of DNA binding | 19654000 |
| Tgene | IGF1 | GO:0043410 | positive regulation of MAPK cascade | 19654000 |
| Tgene | IGF1 | GO:0043568 | positive regulation of insulin-like growth factor receptor signaling pathway | 7688386|10766744 |
| Tgene | IGF1 | GO:0045445 | myoblast differentiation | 17531227 |
| Tgene | IGF1 | GO:0045669 | positive regulation of osteoblast differentiation | 16433617 |
| Tgene | IGF1 | GO:0045725 | positive regulation of glycogen biosynthetic process | 21076856 |
| Tgene | IGF1 | GO:0045821 | positive regulation of glycolytic process | 7688386 |
| Tgene | IGF1 | GO:0045840 | positive regulation of mitotic nuclear division | 7188854|10644978 |
| Tgene | IGF1 | GO:0045893 | positive regulation of transcription, DNA-templated | 9722506|19654000 |
| Tgene | IGF1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 16433617 |
| Tgene | IGF1 | GO:0046326 | positive regulation of glucose import | 21076856 |
| Tgene | IGF1 | GO:0046579 | positive regulation of Ras protein signal transduction | 9722506 |
| Tgene | IGF1 | GO:0048015 | phosphatidylinositol-mediated signaling | 7692086 |
| Tgene | IGF1 | GO:0048146 | positive regulation of fibroblast proliferation | 7188854 |
| Tgene | IGF1 | GO:0048661 | positive regulation of smooth muscle cell proliferation | 10766744|16942485 |
| Tgene | IGF1 | GO:0050679 | positive regulation of epithelial cell proliferation | 7188854 |
| Tgene | IGF1 | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation | 7782332|22635104 |
| Tgene | IGF1 | GO:0051450 | myoblast proliferation | 17531227 |
| Tgene | IGF1 | GO:0061051 | positive regulation of cell growth involved in cardiac muscle cell development | 24117217 |
| Tgene | IGF1 | GO:0070886 | positive regulation of calcineurin-NFAT signaling cascade | 19654000 |
| Tgene | IGF1 | GO:2000679 | positive regulation of transcription regulatory region DNA binding | 15059951 |
| Tgene | IGF1 | GO:2001237 | negative regulation of extrinsic apoptotic signaling pathway | 16942485 |
| Fusion gene breakpoints across SPATC1L (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 IGF1 (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 | SARC | TCGA-3B-A9HO-01A | SPATC1L | chr21 | 47604270 | - | IGF1 | chr12 | 102813468 | - |
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Fusion Gene ORF analysis for SPATC1L-IGF1 |
| 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 |
| 5UTR-3CDS | ENST00000291672 | ENST00000337514 | SPATC1L | chr21 | 47604270 | - | IGF1 | chr12 | 102813468 | - |
| 5UTR-3CDS | ENST00000291672 | ENST00000456098 | SPATC1L | chr21 | 47604270 | - | IGF1 | chr12 | 102813468 | - |
| 5UTR-3CDS | ENST00000330205 | ENST00000337514 | SPATC1L | chr21 | 47604270 | - | IGF1 | chr12 | 102813468 | - |
| 5UTR-3CDS | ENST00000330205 | ENST00000456098 | SPATC1L | chr21 | 47604270 | - | IGF1 | chr12 | 102813468 | - |
| 5UTR-intron | ENST00000291672 | ENST00000307046 | SPATC1L | chr21 | 47604270 | - | IGF1 | chr12 | 102813468 | - |
| 5UTR-intron | ENST00000291672 | ENST00000392904 | SPATC1L | chr21 | 47604270 | - | IGF1 | chr12 | 102813468 | - |
| 5UTR-intron | ENST00000291672 | ENST00000424202 | SPATC1L | chr21 | 47604270 | - | IGF1 | chr12 | 102813468 | - |
| 5UTR-intron | ENST00000291672 | ENST00000481539 | SPATC1L | chr21 | 47604270 | - | IGF1 | chr12 | 102813468 | - |
| 5UTR-intron | ENST00000330205 | ENST00000307046 | SPATC1L | chr21 | 47604270 | - | IGF1 | chr12 | 102813468 | - |
| 5UTR-intron | ENST00000330205 | ENST00000392904 | SPATC1L | chr21 | 47604270 | - | IGF1 | chr12 | 102813468 | - |
| 5UTR-intron | ENST00000330205 | ENST00000424202 | SPATC1L | chr21 | 47604270 | - | IGF1 | chr12 | 102813468 | - |
| 5UTR-intron | ENST00000330205 | ENST00000481539 | SPATC1L | chr21 | 47604270 | - | IGF1 | chr12 | 102813468 | - |
| 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 SPATC1L-IGF1 |
| 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 SPATC1L-IGF1 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:47604270/:102813468) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SPATC1L | IGF1 |
| FUNCTION: Receptor tyrosine kinase which mediates actions of insulin-like growth factor 1 (IGF1). Binds IGF1 with high affinity and IGF2 and insulin (INS) with a lower affinity. The activated IGF1R is involved in cell growth and survival control. IGF1R is crucial for tumor transformation and survival of malignant cell. Ligand binding activates the receptor kinase, leading to receptor autophosphorylation, and tyrosines phosphorylation of multiple substrates, that function as signaling adapter proteins including, the insulin-receptor substrates (IRS1/2), Shc and 14-3-3 proteins. Phosphorylation of IRSs proteins lead to the activation of two main signaling pathways: the PI3K-AKT/PKB pathway and the Ras-MAPK pathway. The result of activating the MAPK pathway is increased cellular proliferation, whereas activating the PI3K pathway inhibits apoptosis and stimulates protein synthesis. Phosphorylated IRS1 can activate the 85 kDa regulatory subunit of PI3K (PIK3R1), leading to activation of several downstream substrates, including protein AKT/PKB. AKT phosphorylation, in turn, enhances protein synthesis through mTOR activation and triggers the antiapoptotic effects of IGFIR through phosphorylation and inactivation of BAD. In parallel to PI3K-driven signaling, recruitment of Grb2/SOS by phosphorylated IRS1 or Shc leads to recruitment of Ras and activation of the ras-MAPK pathway. In addition to these two main signaling pathways IGF1R signals also through the Janus kinase/signal transducer and activator of transcription pathway (JAK/STAT). Phosphorylation of JAK proteins can lead to phosphorylation/activation of signal transducers and activators of transcription (STAT) proteins. In particular activation of STAT3, may be essential for the transforming activity of IGF1R. The JAK/STAT pathway activates gene transcription and may be responsible for the transforming activity. JNK kinases can also be activated by the IGF1R. IGF1 exerts inhibiting activities on JNK activation via phosphorylation and inhibition of MAP3K5/ASK1, which is able to directly associate with the IGF1R.; FUNCTION: When present in a hybrid receptor with INSR, binds IGF1. PubMed:12138094 shows that hybrid receptors composed of IGF1R and INSR isoform Long are activated with a high affinity by IGF1, with low affinity by IGF2 and not significantly activated by insulin, and that hybrid receptors composed of IGF1R and INSR isoform Short are activated by IGF1, IGF2 and insulin. In contrast, PubMed:16831875 shows that hybrid receptors composed of IGF1R and INSR isoform Long and hybrid receptors composed of IGF1R and INSR isoform Short have similar binding characteristics, both bind IGF1 and have a low affinity for insulin. |
| 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 SPATC1L-IGF1 |
| 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 SPATC1L-IGF1 |
| 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 SPATC1L-IGF1 |
| 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 SPATC1L-IGF1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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