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Kinase Fusion Gene:IGF1R_DZIP1L |
Kinase Fusion Protein Summary |
Kinase Fusion gene summary |
Kinase Fusion partner gene information | Kinase Fusion gene name: IGF1R_DZIP1L | KinaseFusionDB ID: KFG2809 | FusionGDB2.0 ID: KFG2809 | Hgene | Tgene | Gene symbol | IGF1R | DZIP1L | Gene ID | 3480 | 199221 | |
Gene name | insulin like growth factor 1 receptor | DAZ interacting zinc finger protein 1 like | ||||||||||
Synonyms | CD221|IGFIR|IGFR|JTK13 | DZIP2|PKD5 | ||||||||||
Cytomap | 15q26.3 | 3q22.3 | ||||||||||
Type of gene | protein-coding | protein-coding | ||||||||||
Description | insulin-like growth factor 1 receptorIGF-I receptor | cilium assembly protein DZIP1LDAZ interacting protein 1-likeDAZ-interacting protein 1-like proteinzinc finger protein DZIP1L | ||||||||||
Modification date | 20240411 | 20240305 | ||||||||||
UniProtAcc | P08069 | Q8IYY4 | ||||||||||
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000268035, ENST00000558762, ENST00000560432, | ENST00000327532, ENST00000469243, ENST00000488595, | |||||||||
Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: IGF1R [Title/Abstract] AND DZIP1L [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | IGF1R(99507759)-DZIP1L(137824999), # samples:1 |
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 | IGF1R | GO:0043066 | negative regulation of apoptotic process | 12556535 |
Hgene | IGF1R | GO:0043409 | negative regulation of MAPK cascade | 12556535 |
Hgene | IGF1R | GO:0046328 | regulation of JNK cascade | 12556535 |
Hgene | IGF1R | GO:0046777 | protein autophosphorylation | 1846292|7679099|11162456 |
Hgene | IGF1R | GO:0048009 | insulin-like growth factor receptor signaling pathway | 7679099|7692086 |
Hgene | IGF1R | GO:0051897 | positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 7692086 |
Kinase Fusion gene breakpoints across IGF1R (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Kinase Fusion gene breakpoints across DZIP1L (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Kinase Fusion Gene Sample Information |
Kinase Fusion gene information. |
Kinase Fusion gene information from four resources (ChiTars 5.0, ChimerDB 4.0, COSMIC, and CCLE) * 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 | Sample | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp |
ChiTaRS5.0 | NM_001291858 | IGF1R | chr15 | 99507759 | DZIP1L | chr3 | 137824999 |
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Kinase Fusion ORF Analysis |
Kinase Fusion information from ORFfinder translation from full-length transcript sequence from KinaseFusionDB. |
Henst | Tenst | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp | Seq length (transcript) | Seq length (amino acids) |
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Kinase Fusion Amino Acid Sequences |
For individual full-length fusion transcript sequence from KinaseFusionDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
>Henst_Tenst_Hgene_Hchr_Hbp_Tgene_Tchr_Tbp_length(fusion AA)_AAseq |
Multiple Sequence Alignment of All Fusion Protein Isoforms |
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Kinase Fusion Protein Functional Features |
Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:99507759/:137824999) - 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. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
IGF1R | DZIP1L |
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. | FUNCTION: Involved in primary cilium formation (PubMed:19852954, PubMed:28530676). Probably acts as a transition zone protein required for localization of PKD1/PC1 and PKD2/PC2 to the ciliary membrane (PubMed:28530676). {ECO:0000269|PubMed:19852954, ECO:0000269|PubMed:28530676}. |
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. |
- Retained domain in the 5'-partner of fusion protein (protein functional feature from UniProt). |
Partner | Hgeneene | Hbp | Tgeneene | Tbp | ENST | BPexon | TotalExon | Protein feature loci | BPloci | TotalLen | Feature | Note |
- Retained domain in the 3'-partner of fusion protein (protein functional feature from UniProt). |
Partner | Hgeneene | Hbp | Tgeneene | Tbp | ENST | BPexon | TotalExon | Protein feature loci | BPloci | TotalLen | Feature | Note |
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Kinase-Substrate Information of IGF1R_DZIP1L |
Phosphorylation target of the kinase (phosphosite, 03-17-2024) |
Kinase | Kinase UniProt Acc | Kinase species | Substrate | Substrate UniProt Acc | Substrate phosphorylated residues | Substrate phosphorylated sites (+/-7AA) | Domain |
IGF1R | P08069 | human | IRS1 | P35568 | Y989 | VPssRGDyMTMQMSC | |
IGF1R | P08069 | human | PDPK1 | O15530 | Y376 | DEDCyGNyDNLLSQF | |
IGF1R | P08069 | human | PTH1R | Q03431 | Y494 | ARsGsssySyGPMVS | |
IGF1R | P08069 | human | IRS1 | P35568 | Y632 | GRKGsGDyMPMsPKs | |
IGF1R | P08069 | human | ANXA2 | P07355 | Y24 | HstPPsAyGsVkAyt | |
IGF1R | P08069 | human | PCNA | P12004 | Y250 | DMGHLkYyLAPkIED | PCNA_C |
IGF1R | P08069 | human | IRS1 | P35568 | Y941 | EEtGtEEyMKMDLGP | |
IGF1R | P08069 | human | IRS4 | O14654 | Y921 | EADSSsDyVNMDFTk | |
IGF1R | P08069 | human | IRS1 | P35568 | Y662 | QRVDPNGyMMMsPsG | |
IGF1R | P08069 | human | IRS1 | P35568 | Y896 | EPKsPGEyVNIEFGS | |
IGF1R | P08069 | human | ESR1 | P03372 | Y219 | sIQGHNDyMCPATNQ | zf-C4 |
IGF1R | P08069 | human | IGF1R | P08069 | Y1161 | FGMTRDIyEtDyyRk | PK_Tyr_Ser-Thr |
IGF1R | P08069 | human | IRS4 | O14654 | Y828 | GQNDNsEyVPMLPGk | |
IGF1R | P08069 | human | IRS1 | P35568 | Y1179 | GLENGLNyIDLDLVk | |
IGF1R | P08069 | human | PCNA | P12004 | Y60 | RSEGFDTyrCDRNLA | PCNA_N |
IGF1R | P08069 | human | IGF1R | P08069 | Y1281 | FREVsFyySEENKLP | |
IGF1R | P08069 | human | SIRPA | P78324 | Y470 | AsEDtLtyADLDMVH | |
IGF1R | P08069 | human | PDPK1 | O15530 | Y373 | sEDDEDCyGNyDNLL | |
IGF1R | P08069 | human | IGF1R | P08069 | S982 | SVNPEyFsAADVYVP | |
IGF1R | P08069 | human | IRS4 | O14654 | Y847 | GLDkEVSyNWDPKDA | |
IGF1R | P08069 | human | H3C1 | P68431 | Y41 | GVkkPHryrPGtVAL | Histone |
IGF1R | P08069 | human | IGF1R | P08069 | Y980 | yASVNPEyFsAADVY | |
IGF1R | P08069 | human | PCNA | P12004 | Y133 | LGIPEQEysCVVkMP | PCNA_C |
IGF1R | P08069 | human | IRS4 | O14654 | Y656 | SGGRFRLyFCVDrGA | |
IGF1R | P08069 | human | IGF1R | P08069 | Y1165 | RDIyEtDyyRkGGkG | PK_Tyr_Ser-Thr |
IGF1R | P08069 | human | IRS1 | P35568 | Y732 | LLPCTGDyMNMSPVG | |
IGF1R | P08069 | human | IGF1R | P08069 | Y1280 | GFREVsFyySEENKL | |
IGF1R | P08069 | human | IGF1R | P08069 | Y1166 | DIyEtDyyRkGGkGL | PK_Tyr_Ser-Thr |
IGF1R | P08069 | human | SIRPA | P78324 | Y496 | PEPSFsEyASVQVPR |
Biological Network Integration of This Kinase and Substrates (GeneMANIA website) |
Enriched GO biological processes of the phosphorylation target genes of the kinase |
Kinase | GOID | GO term | P.adjust |
IGF1R | ID | Description | 0.00e+00 |
IGF1R | GO:0008286 | insulin receptor signaling pathway | 2.93e-04 |
IGF1R | GO:0048009 | insulin-like growth factor receptor signaling pathway | 7.18e-04 |
IGF1R | GO:0032869 | cellular response to insulin stimulus | 7.18e-04 |
IGF1R | GO:0042698 | ovulation cycle | 1.18e-03 |
IGF1R | GO:0032868 | response to insulin | 1.24e-03 |
IGF1R | GO:0071375 | cellular response to peptide hormone stimulus | 1.81e-03 |
IGF1R | GO:0032355 | response to estradiol | 2.07e-03 |
IGF1R | GO:1904035 | regulation of epithelial cell apoptotic process | 2.07e-03 |
IGF1R | GO:0044849 | estrous cycle | 2.07e-03 |
IGF1R | GO:1902065 | response to L-glutamate | 2.07e-03 |
IGF1R | GO:1901653 | cellular response to peptide | 2.07e-03 |
IGF1R | GO:0051347 | positive regulation of transferase activity | 2.81e-03 |
IGF1R | GO:0043434 | response to peptide hormone | 2.81e-03 |
IGF1R | GO:1904019 | epithelial cell apoptotic process | 2.81e-03 |
IGF1R | GO:0034121 | regulation of toll-like receptor signaling pathway | 6.09e-03 |
IGF1R | GO:0071392 | cellular response to estradiol stimulus | 8.54e-03 |
IGF1R | GO:0071548 | response to dexamethasone | 8.54e-03 |
IGF1R | GO:0010518 | positive regulation of phospholipase activity | 1.26e-02 |
IGF1R | GO:0010656 | negative regulation of muscle cell apoptotic process | 1.26e-02 |
IGF1R | GO:0043491 | phosphatidylinositol 3-kinase/protein kinase B signal transduction | 1.44e-02 |
IGF1R | GO:0048511 | rhythmic process | 1.44e-02 |
IGF1R | GO:0010517 | regulation of phospholipase activity | 1.44e-02 |
IGF1R | GO:0007249 | canonical NF-kappaB signal transduction | 1.44e-02 |
IGF1R | GO:0060193 | positive regulation of lipase activity | 1.44e-02 |
IGF1R | GO:1904036 | negative regulation of epithelial cell apoptotic process | 1.57e-02 |
IGF1R | GO:0070301 | cellular response to hydrogen peroxide | 1.65e-02 |
IGF1R | GO:0048545 | response to steroid hormone | 1.68e-02 |
IGF1R | GO:0033674 | positive regulation of kinase activity | 1.73e-02 |
IGF1R | GO:0002224 | toll-like receptor signaling pathway | 1.79e-02 |
IGF1R | GO:0045806 | negative regulation of endocytosis | 1.79e-02 |
IGF1R | GO:0060191 | regulation of lipase activity | 1.88e-02 |
IGF1R | GO:0045913 | positive regulation of carbohydrate metabolic process | 1.96e-02 |
IGF1R | GO:0010660 | regulation of muscle cell apoptotic process | 2.04e-02 |
IGF1R | GO:0010657 | muscle cell apoptotic process | 2.27e-02 |
IGF1R | GO:0042542 | response to hydrogen peroxide | 2.78e-02 |
IGF1R | GO:0043255 | regulation of carbohydrate biosynthetic process | 2.92e-02 |
IGF1R | GO:0007200 | phospholipase C-activating G protein-coupled receptor signaling pathway | 3.28e-02 |
IGF1R | GO:0051051 | negative regulation of transport | 3.31e-02 |
IGF1R | GO:0043200 | response to amino acid | 3.82e-02 |
IGF1R | GO:0051384 | response to glucocorticoid | 3.82e-02 |
IGF1R | GO:0046328 | regulation of JNK cascade | 4.02e-02 |
IGF1R | GO:0001101 | response to acid chemical | 4.47e-02 |
IGF1R | GO:0045834 | positive regulation of lipid metabolic process | 4.51e-02 |
IGF1R | GO:0062207 | regulation of pattern recognition receptor signaling pathway | 4.51e-02 |
IGF1R | GO:0062013 | positive regulation of small molecule metabolic process | 4.53e-02 |
IGF1R | GO:0031960 | response to corticosteroid | 4.55e-02 |
IGF1R | GO:0034614 | cellular response to reactive oxygen species | 4.71e-02 |
IGF1R | GO:0045807 | positive regulation of endocytosis | 4.71e-02 |
IGF1R | GO:0007254 | JNK cascade | 5.10e-02 |
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Related Drugs to IGF1R_DZIP1L |
Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
Distribution of the number of studies mentioning IGF1R-DZIP1L and kinase inhibitors the PubMed Abstract (04-01-2024) |
Fusion gene - drug pair 1 | Fusion gene - drug pair 2 | PMID | Publication date | DOI | Study title |
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Related Diseases to IGF1R_DZIP1L |
Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
Related diseases from the literature mentioned this fusion gene and drug. (PubMed, 04-01-2024) |
MeSH ID | MeSH term |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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Clinical Trials of the Found Drugs/Small Molecules |
Statistics of the Clinical Trials of the Found Kinase Inibitors from clinicaltrials.gov (06-17-2024) |
Clinical Trials from clinicaltrials.gov (06-17-2024) |
Fusion Gene | Kinase Inhibitor | NCT ID | Study Status | Phases | Disease | # Enrolment | Date |