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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:COL1A1-IGF1R (FusionGDB2 ID:HG1277TG3480) |
Fusion Gene Summary for COL1A1-IGF1R |
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Fusion gene information | Fusion gene name: COL1A1-IGF1R | Fusion gene ID: hg1277tg3480 | Hgene | Tgene | Gene symbol | COL1A1 | IGF1R | Gene ID | 1277 | 3480 |
Gene name | collagen type I alpha 1 chain | insulin like growth factor 1 receptor | |
Synonyms | CAFYD|EDSARTH1|EDSC|OI1|OI2|OI3|OI4 | CD221|IGFIR|IGFR|JTK13 | |
Cytomap | ('COL1A1')('IGF1R') 17q21.33 | 15q26.3 | |
Type of gene | protein-coding | protein-coding | |
Description | collagen alpha-1(I) chainalpha-1 type I collagenalpha1(I) procollagencollagen alpha 1 chain type Icollagen alpha-1(I) chain preproproteincollagen of skin, tendon and bone, alpha-1 chaincollagen, type I, alpha 1pro-alpha-1 collagen type 1type I pro | insulin-like growth factor 1 receptorIGF-I receptorsoluble IGF1R variant 1soluble IGF1R variant 2 | |
Modification date | 20200322 | 20200329 | |
UniProtAcc | P02452 | P08069 | |
Ensembl transtripts involved in fusion gene | ENST00000225964, | ||
Fusion gene scores | * DoF score | 56 X 95 X 16=85120 | 14 X 14 X 5=980 |
# samples | 86 | 16 | |
** MAII score | log2(86/85120*10)=-6.62901768079909 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). 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: COL1A1 [Title/Abstract] AND IGF1R [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | COL1A1(48270001)-IGF1R(99504159), # 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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | COL1A1 | GO:0010718 | positive regulation of epithelial to mesenchymal transition | 20018240 |
Hgene | COL1A1 | GO:0030335 | positive regulation of cell migration | 20018240 |
Hgene | COL1A1 | GO:0034504 | protein localization to nucleus | 20018240 |
Hgene | COL1A1 | GO:0045893 | positive regulation of transcription, DNA-templated | 20018240 |
Hgene | COL1A1 | GO:0090263 | positive regulation of canonical Wnt signaling pathway | 20018240 |
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 |
![]() * 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 | Non-Cancer | TCGA-E9-A1N5-11A | COL1A1 | chr17 | 48270001 | - | IGF1R | chr15 | 99504159 | + |
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Fusion Gene ORF analysis for COL1A1-IGF1R |
![]() * 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 |
5CDS-3UTR | ENST00000225964 | ENST00000268035 | COL1A1 | chr17 | 48270001 | - | IGF1R | chr15 | 99504159 | + |
5CDS-3UTR | ENST00000225964 | ENST00000558762 | COL1A1 | chr17 | 48270001 | - | IGF1R | chr15 | 99504159 | + |
5CDS-intron | ENST00000225964 | ENST00000560432 | COL1A1 | chr17 | 48270001 | - | IGF1R | chr15 | 99504159 | + |
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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) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for COL1A1-IGF1R |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for COL1A1-IGF1R |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:48270001/:99504159) - 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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Hgene | Tgene |
COL1A1 | IGF1R |
FUNCTION: Type I collagen is a member of group I collagen (fibrillar forming collagen). | 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. |
![]() * 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 COL1A1-IGF1R |
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Fusion Gene PPI Analysis for COL1A1-IGF1R |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for COL1A1-IGF1R |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | COL1A1 | P02452 | DB00048 | Collagenase clostridium histolyticum | Binder | Biotech | Approved|Investigational |
Hgene | COL1A1 | P02452 | DB12872 | Vonicog Alfa | Binder | Biotech | Approved|Investigational |
Hgene | COL1A1 | P02452 | DB13133 | Von Willebrand Factor Human | Binder | Biotech | Approved|Investigational |
Hgene | COL1A1 | P02452 | DB11338 | Clove oil | Biotech | Approved|Nutraceutical | |
Hgene | COL1A1 | P02452 | DB04866 | Halofuginone | Small molecule | Investigational|Vet_approved | |
Tgene | IGF1R | P08069 | DB00046 | Insulin lispro | Biotech | Approved | |
Tgene | IGF1R | P08069 | DB00047 | Insulin glargine | Biotech | Approved | |
Tgene | IGF1R | P08069 | DB00071 | Insulin pork | Biotech | Approved | |
Tgene | IGF1R | P08069 | DB01306 | Insulin aspart | Biotech | Approved | |
Tgene | IGF1R | P08069 | DB01307 | Insulin detemir | Biotech | Approved | |
Tgene | IGF1R | P08069 | DB01309 | Insulin glulisine | Biotech | Approved | |
Tgene | IGF1R | P08069 | DB09564 | Insulin degludec | Biotech | Approved | |
Tgene | IGF1R | P08069 | DB14751 | Mecasermin rinfabate | Agonist | Biotech | Approved |
Tgene | IGF1R | P08069 | DB00030 | Insulin human | Biotech | Approved|Investigational | |
Tgene | IGF1R | P08069 | DB01277 | Mecasermin | Agonist | Biotech | Approved|Investigational |
Tgene | IGF1R | P08069 | DB06343 | Teprotumumab | Inhibitor | Biotech | Approved|Investigational |
Tgene | IGF1R | P08069 | DB12267 | Brigatinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | IGF1R | P08069 | DB09098 | Somatrem | Biotech | Approved|Investigational|Withdrawn |
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Related Diseases for COL1A1-IGF1R |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | COL1A1 | C0268358 | Osteogenesis imperfecta, dominant perinatal lethal | 38 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | COL1A1 | C0268362 | Osteogenesis imperfecta type III (disorder) | 17 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | COL1A1 | C0023931 | Lobstein Disease | 15 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | COL1A1 | C0268363 | Osteogenesis imperfecta type IV (disorder) | 12 | GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | COL1A1 | C0023890 | Liver Cirrhosis | 4 | CTD_human |
Hgene | COL1A1 | C0239946 | Fibrosis, Liver | 4 | CTD_human |
Hgene | COL1A1 | C4551623 | EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 | 4 | CTD_human;GENOMICS_ENGLAND |
Hgene | COL1A1 | C4552122 | EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | 4 | GENOMICS_ENGLAND;UNIPROT |
Hgene | COL1A1 | C0020497 | Cortical Congenital Hyperostosis | 3 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | COL1A1 | C0023893 | Liver Cirrhosis, Experimental | 3 | CTD_human |
Hgene | COL1A1 | C0268345 | EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE | 2 | ORPHANET |
Hgene | COL1A1 | C0000786 | Spontaneous abortion | 1 | CTD_human |
Hgene | COL1A1 | C0000822 | Abortion, Tubal | 1 | CTD_human |
Hgene | COL1A1 | C0002949 | Aneurysm, Dissecting | 1 | CTD_human |
Hgene | COL1A1 | C0003504 | Aortic Valve Insufficiency | 1 | CTD_human |
Hgene | COL1A1 | C0004364 | Autoimmune Diseases | 1 | CTD_human |
Hgene | COL1A1 | C0005398 | Cholestasis, Extrahepatic | 1 | CTD_human |
Hgene | COL1A1 | C0005779 | Blood Coagulation Disorders | 1 | GENOMICS_ENGLAND |
Hgene | COL1A1 | C0006663 | Calcinosis | 1 | CTD_human |
Hgene | COL1A1 | C0008311 | Cholangitis | 1 | CTD_human |
Hgene | COL1A1 | C0013720 | Ehlers-Danlos Syndrome | 1 | GENOMICS_ENGLAND |
Hgene | COL1A1 | C0016059 | Fibrosis | 1 | CTD_human |
Hgene | COL1A1 | C0018824 | Heart valve disease | 1 | CTD_human |
Hgene | COL1A1 | C0020538 | Hypertensive disease | 1 | CTD_human |
Hgene | COL1A1 | C0022548 | Keloid | 1 | CTD_human |
Hgene | COL1A1 | C0027719 | Nephrosclerosis | 1 | CTD_human |
Hgene | COL1A1 | C0027726 | Nephrotic Syndrome | 1 | CTD_human |
Hgene | COL1A1 | C0029172 | Oral Submucous Fibrosis | 1 | CTD_human |
Hgene | COL1A1 | C0029434 | Osteogenesis Imperfecta | 1 | CTD_human;GENOMICS_ENGLAND |
Hgene | COL1A1 | C0149721 | Left Ventricular Hypertrophy | 1 | CTD_human |
Hgene | COL1A1 | C0220679 | Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified | 1 | ORPHANET |
Hgene | COL1A1 | C0263628 | Tumoral calcinosis | 1 | CTD_human |
Hgene | COL1A1 | C0340643 | Dissection of aorta | 1 | CTD_human |
Hgene | COL1A1 | C0521174 | Microcalcification | 1 | CTD_human |
Hgene | COL1A1 | C1458140 | Bleeding tendency | 1 | GENOMICS_ENGLAND |
Hgene | COL1A1 | C1619692 | Nephrogenic Fibrosing Dermopathy | 1 | CTD_human |
Hgene | COL1A1 | C1623038 | Cirrhosis | 1 | CTD_human |
Hgene | COL1A1 | C1846545 | Autoimmune Lymphoproliferative Syndrome Type 2B | 1 | GENOMICS_ENGLAND |
Hgene | COL1A1 | C3830362 | Early Pregnancy Loss | 1 | CTD_human |
Hgene | COL1A1 | C4277533 | Dissection, Blood Vessel | 1 | CTD_human |
Hgene | COL1A1 | C4552766 | Miscarriage | 1 | CTD_human |
Tgene | C1849157 | Resistance to Insulin-Like Growth Factor I | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C0004238 | Atrial Fibrillation | 2 | CTD_human | |
Tgene | C0024115 | Lung diseases | 2 | CTD_human | |
Tgene | C0235480 | Paroxysmal atrial fibrillation | 2 | CTD_human | |
Tgene | C0235833 | Congenital diaphragmatic hernia | 2 | CTD_human | |
Tgene | C0265699 | Congenital hernia of foramen of Morgagni | 2 | CTD_human | |
Tgene | C0265700 | Congenital hernia of foramen of Bochdalek | 2 | CTD_human | |
Tgene | C2239176 | Liver carcinoma | 2 | CTD_human | |
Tgene | C2585653 | Persistent atrial fibrillation | 2 | CTD_human | |
Tgene | C3468561 | familial atrial fibrillation | 2 | CTD_human | |
Tgene | C0002395 | Alzheimer's Disease | 1 | CTD_human | |
Tgene | C0006142 | Malignant neoplasm of breast | 1 | CTD_human | |
Tgene | C0007114 | Malignant neoplasm of skin | 1 | CTD_human | |
Tgene | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human | |
Tgene | C0011265 | Presenile dementia | 1 | CTD_human | |
Tgene | C0014170 | Endometrial Neoplasms | 1 | CTD_human | |
Tgene | C0015934 | Fetal Growth Retardation | 1 | CTD_human | |
Tgene | C0018273 | Growth Disorders | 1 | CTD_human | |
Tgene | C0030567 | Parkinson Disease | 1 | CTD_human | |
Tgene | C0035229 | Respiratory Insufficiency | 1 | CTD_human | |
Tgene | C0037286 | Skin Neoplasms | 1 | CTD_human | |
Tgene | C0087031 | Juvenile-Onset Still Disease | 1 | CTD_human | |
Tgene | C0206686 | Adrenocortical carcinoma | 1 | CTD_human | |
Tgene | C0235063 | Respiratory Depression | 1 | CTD_human | |
Tgene | C0276496 | Familial Alzheimer Disease (FAD) | 1 | CTD_human | |
Tgene | C0424605 | Developmental delay (disorder) | 1 | GENOMICS_ENGLAND | |
Tgene | C0476089 | Endometrial Carcinoma | 1 | CTD_human | |
Tgene | C0494463 | Alzheimer Disease, Late Onset | 1 | CTD_human | |
Tgene | C0546126 | Acute Confusional Senile Dementia | 1 | CTD_human | |
Tgene | C0557874 | Global developmental delay | 1 | GENOMICS_ENGLAND | |
Tgene | C0678222 | Breast Carcinoma | 1 | CTD_human | |
Tgene | C0750900 | Alzheimer's Disease, Focal Onset | 1 | CTD_human | |
Tgene | C0750901 | Alzheimer Disease, Early Onset | 1 | CTD_human | |
Tgene | C0752347 | Lewy Body Disease | 1 | CTD_human | |
Tgene | C1145670 | Respiratory Failure | 1 | CTD_human | |
Tgene | C1257931 | Mammary Neoplasms, Human | 1 | CTD_human | |
Tgene | C1458155 | Mammary Neoplasms | 1 | CTD_human | |
Tgene | C3495559 | Juvenile arthritis | 1 | CTD_human | |
Tgene | C3714758 | Juvenile psoriatic arthritis | 1 | CTD_human | |
Tgene | C4552091 | Polyarthritis, Juvenile, Rheumatoid Factor Negative | 1 | CTD_human | |
Tgene | C4704862 | Polyarthritis, Juvenile, Rheumatoid Factor Positive | 1 | CTD_human | |
Tgene | C4704874 | Mammary Carcinoma, Human | 1 | CTD_human | |
Tgene | C4721453 | Peripheral Nervous System Diseases | 1 | CTD_human |