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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:ALDH1A3-IGF1R (FusionGDB2 ID:3849) |
Fusion Gene Summary for ALDH1A3-IGF1R |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ALDH1A3-IGF1R | Fusion gene ID: 3849 | Hgene | Tgene | Gene symbol | ALDH1A3 | IGF1R | Gene ID | 220 | 3480 |
| Gene name | aldehyde dehydrogenase 1 family member A3 | insulin like growth factor 1 receptor | |
| Synonyms | ALDH1A6|ALDH6|MCOP8|RALDH3 | CD221|IGFIR|IGFR|JTK13 | |
| Cytomap | 15q26.3 | 15q26.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | aldehyde dehydrogenase family 1 member A3acetaldehyde dehydrogenase 6aldehyde dehydrogenase 6retinaldehyde dehydrogenase 3 | insulin-like growth factor 1 receptorIGF-I receptorsoluble IGF1R variant 1soluble IGF1R variant 2 | |
| Modification date | 20200322 | 20200329 | |
| UniProtAcc | P47895 | P08069 | |
| Ensembl transtripts involved in fusion gene | ENST00000560555, ENST00000329841, ENST00000346623, ENST00000557963, | ENST00000268035, ENST00000558762, ENST00000560432, | |
| Fusion gene scores | * DoF score | 3 X 4 X 2=24 | 14 X 14 X 5=980 |
| # samples | 3 | 16 | |
| ** MAII score | log2(3/24*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(16/980*10)=-2.61470984411521 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ALDH1A3 [Title/Abstract] AND IGF1R [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | ALDH1A3(101427917)-IGF1R(99434554), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | ALDH1A3-IGF1R seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. ALDH1A3-IGF1R seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. ALDH1A3-IGF1R seems lost the major protein functional domain in Tgene partner, which is a kinase 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 | ALDH1A3 | GO:0002138 | retinoic acid biosynthetic process | 27759097 |
| Hgene | ALDH1A3 | GO:0042573 | retinoic acid metabolic process | 11585737 |
| Hgene | ALDH1A3 | GO:0042574 | retinal metabolic process | 11585737 |
| Hgene | ALDH1A3 | GO:0051289 | protein homotetramerization | 27759097 |
| Tgene | IGF1R | GO:0043066 | negative regulation of apoptotic process | 12556535 |
| Tgene | IGF1R | GO:0046328 | regulation of JNK cascade | 12556535 |
| Tgene | IGF1R | GO:0046777 | protein autophosphorylation | 1846292|7679099|11162456 |
| Tgene | IGF1R | GO:0048009 | insulin-like growth factor receptor signaling pathway | 7679099 |
| Tgene | IGF1R | GO:0048015 | phosphatidylinositol-mediated signaling | 7692086 |
| Tgene | IGF1R | GO:0051389 | inactivation of MAPKK activity | 12556535 |
| Fusion gene breakpoints across ALDH1A3 (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 IGF1R (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 | HNSC | TCGA-BA-6873-01A | ALDH1A3 | chr15 | 101427917 | + | IGF1R | chr15 | 99434554 | + |
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Fusion Gene ORF analysis for ALDH1A3-IGF1R |
| 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 | ENST00000560555 | ENST00000268035 | ALDH1A3 | chr15 | 101427917 | + | IGF1R | chr15 | 99434554 | + |
| 3UTR-3CDS | ENST00000560555 | ENST00000558762 | ALDH1A3 | chr15 | 101427917 | + | IGF1R | chr15 | 99434554 | + |
| 3UTR-3UTR | ENST00000560555 | ENST00000560432 | ALDH1A3 | chr15 | 101427917 | + | IGF1R | chr15 | 99434554 | + |
| 5CDS-3UTR | ENST00000329841 | ENST00000560432 | ALDH1A3 | chr15 | 101427917 | + | IGF1R | chr15 | 99434554 | + |
| 5CDS-3UTR | ENST00000346623 | ENST00000560432 | ALDH1A3 | chr15 | 101427917 | + | IGF1R | chr15 | 99434554 | + |
| Frame-shift | ENST00000329841 | ENST00000268035 | ALDH1A3 | chr15 | 101427917 | + | IGF1R | chr15 | 99434554 | + |
| Frame-shift | ENST00000329841 | ENST00000558762 | ALDH1A3 | chr15 | 101427917 | + | IGF1R | chr15 | 99434554 | + |
| Frame-shift | ENST00000346623 | ENST00000268035 | ALDH1A3 | chr15 | 101427917 | + | IGF1R | chr15 | 99434554 | + |
| Frame-shift | ENST00000346623 | ENST00000558762 | ALDH1A3 | chr15 | 101427917 | + | IGF1R | chr15 | 99434554 | + |
| intron-3CDS | ENST00000557963 | ENST00000268035 | ALDH1A3 | chr15 | 101427917 | + | IGF1R | chr15 | 99434554 | + |
| intron-3CDS | ENST00000557963 | ENST00000558762 | ALDH1A3 | chr15 | 101427917 | + | IGF1R | chr15 | 99434554 | + |
| intron-3UTR | ENST00000557963 | ENST00000560432 | ALDH1A3 | chr15 | 101427917 | + | IGF1R | chr15 | 99434554 | + |
| 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 ALDH1A3-IGF1R |
| 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) |
| ALDH1A3 | chr15 | 101427917 | + | IGF1R | chr15 | 99434553 | + | 1.90E-07 | 0.99999976 |
| ALDH1A3 | chr15 | 101427917 | + | IGF1R | chr15 | 99434553 | + | 1.90E-07 | 0.99999976 |
| 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 ALDH1A3-IGF1R |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:101427917/:99434554) - 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 |
| ALDH1A3 | IGF1R |
| FUNCTION: NAD-dependent aldehyde dehydrogenase that catalyzes the formation of retinoic acid (PubMed:27759097). Has high activity with all-trans retinal, and has much lower in vitro activity with acetaldehyde (PubMed:27759097). Required for the biosynthesis of normal levels of retinoic acid in the embryonic ocular and nasal regions; retinoic acid is required for normal embryonic development of the eye and the nasal region (By similarity). {ECO:0000250|UniProtKB:Q9JHW9, ECO:0000269|PubMed:27759097}. | 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 ALDH1A3-IGF1R |
| 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 ALDH1A3-IGF1R |
| 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 ALDH1A3-IGF1R |
| 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 ALDH1A3-IGF1R |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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