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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:COL1A1-IGF1R (FusionGDB2 ID:HG1277TG3480)

Fusion Gene Summary for COL1A1-IGF1R

check button Fusion gene summary
Fusion gene informationFusion gene name: COL1A1-IGF1R
Fusion gene ID: hg1277tg3480
HgeneTgene
Gene symbol

COL1A1

IGF1R

Gene ID

1277

3480

Gene namecollagen type I alpha 1 chaininsulin like growth factor 1 receptor
SynonymsCAFYD|EDSARTH1|EDSC|OI1|OI2|OI3|OI4CD221|IGFIR|IGFR|JTK13
Cytomap('COL1A1')('IGF1R')

17q21.33

15q26.3

Type of geneprotein-codingprotein-coding
Descriptioncollagen 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 proinsulin-like growth factor 1 receptorIGF-I receptorsoluble IGF1R variant 1soluble IGF1R variant 2
Modification date2020032220200329
UniProtAcc

P02452

P08069

Ensembl transtripts involved in fusion geneENST00000225964, 
Fusion gene scores* DoF score56 X 95 X 16=8512014 X 14 X 5=980
# samples 8616
** MAII scorelog2(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 breakpointCOL1A1(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneCOL1A1

GO:0010718

positive regulation of epithelial to mesenchymal transition

20018240

HgeneCOL1A1

GO:0030335

positive regulation of cell migration

20018240

HgeneCOL1A1

GO:0034504

protein localization to nucleus

20018240

HgeneCOL1A1

GO:0045893

positive regulation of transcription, DNA-templated

20018240

HgeneCOL1A1

GO:0090263

positive regulation of canonical Wnt signaling pathway

20018240

TgeneIGF1R

GO:0043066

negative regulation of apoptotic process

12556535

TgeneIGF1R

GO:0046328

regulation of JNK cascade

12556535

TgeneIGF1R

GO:0046777

protein autophosphorylation

1846292|7679099|11162456

TgeneIGF1R

GO:0048009

insulin-like growth factor receptor signaling pathway

7679099

TgeneIGF1R

GO:0048015

phosphatidylinositol-mediated signaling

7692086

TgeneIGF1R

GO:0051389

inactivation of MAPKK activity

12556535



check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4Non-CancerTCGA-E9-A1N5-11ACOL1A1chr17

48270001

-IGF1Rchr15

99504159

+


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Fusion Gene ORF analysis for COL1A1-IGF1R

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-3UTRENST00000225964ENST00000268035COL1A1chr17

48270001

-IGF1Rchr15

99504159

+
5CDS-3UTRENST00000225964ENST00000558762COL1A1chr17

48270001

-IGF1Rchr15

99504159

+
5CDS-intronENST00000225964ENST00000560432COL1A1chr17

48270001

-IGF1Rchr15

99504159

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for COL1A1-IGF1R


check buttonFusionAI 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.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for COL1A1-IGF1R


check button Four levels of functional features of fusion genes
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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
COL1A1

P02452

IGF1R

P08069

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.

check buttonRetention 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

download page


* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for COL1A1-IGF1R


check button 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 COL1A1-IGF1R


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for COL1A1-IGF1R


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCOL1A1P02452DB00048Collagenase clostridium histolyticumBinderBiotechApproved|Investigational
HgeneCOL1A1P02452DB12872Vonicog AlfaBinderBiotechApproved|Investigational
HgeneCOL1A1P02452DB13133Von Willebrand Factor HumanBinderBiotechApproved|Investigational
HgeneCOL1A1P02452DB11338Clove oilBiotechApproved|Nutraceutical
HgeneCOL1A1P02452DB04866HalofuginoneSmall moleculeInvestigational|Vet_approved
TgeneIGF1RP08069DB00046Insulin lisproBiotechApproved
TgeneIGF1RP08069DB00047Insulin glargineBiotechApproved
TgeneIGF1RP08069DB00071Insulin porkBiotechApproved
TgeneIGF1RP08069DB01306Insulin aspartBiotechApproved
TgeneIGF1RP08069DB01307Insulin detemirBiotechApproved
TgeneIGF1RP08069DB01309Insulin glulisineBiotechApproved
TgeneIGF1RP08069DB09564Insulin degludecBiotechApproved
TgeneIGF1RP08069DB14751Mecasermin rinfabateAgonistBiotechApproved
TgeneIGF1RP08069DB00030Insulin humanBiotechApproved|Investigational
TgeneIGF1RP08069DB01277MecaserminAgonistBiotechApproved|Investigational
TgeneIGF1RP08069DB06343TeprotumumabInhibitorBiotechApproved|Investigational
TgeneIGF1RP08069DB12267BrigatinibInhibitorSmall moleculeApproved|Investigational
TgeneIGF1RP08069DB09098SomatremBiotechApproved|Investigational|Withdrawn

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Related Diseases for COL1A1-IGF1R


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCOL1A1C0268358Osteogenesis imperfecta, dominant perinatal lethal38CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCOL1A1C0268362Osteogenesis imperfecta type III (disorder)17CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCOL1A1C0023931Lobstein Disease15CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCOL1A1C0268363Osteogenesis imperfecta type IV (disorder)12GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCOL1A1C0023890Liver Cirrhosis4CTD_human
HgeneCOL1A1C0239946Fibrosis, Liver4CTD_human
HgeneCOL1A1C4551623EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 14CTD_human;GENOMICS_ENGLAND
HgeneCOL1A1C4552122EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 14GENOMICS_ENGLAND;UNIPROT
HgeneCOL1A1C0020497Cortical Congenital Hyperostosis3CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneCOL1A1C0023893Liver Cirrhosis, Experimental3CTD_human
HgeneCOL1A1C0268345EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE2ORPHANET
HgeneCOL1A1C0000786Spontaneous abortion1CTD_human
HgeneCOL1A1C0000822Abortion, Tubal1CTD_human
HgeneCOL1A1C0002949Aneurysm, Dissecting1CTD_human
HgeneCOL1A1C0003504Aortic Valve Insufficiency1CTD_human
HgeneCOL1A1C0004364Autoimmune Diseases1CTD_human
HgeneCOL1A1C0005398Cholestasis, Extrahepatic1CTD_human
HgeneCOL1A1C0005779Blood Coagulation Disorders1GENOMICS_ENGLAND
HgeneCOL1A1C0006663Calcinosis1CTD_human
HgeneCOL1A1C0008311Cholangitis1CTD_human
HgeneCOL1A1C0013720Ehlers-Danlos Syndrome1GENOMICS_ENGLAND
HgeneCOL1A1C0016059Fibrosis1CTD_human
HgeneCOL1A1C0018824Heart valve disease1CTD_human
HgeneCOL1A1C0020538Hypertensive disease1CTD_human
HgeneCOL1A1C0022548Keloid1CTD_human
HgeneCOL1A1C0027719Nephrosclerosis1CTD_human
HgeneCOL1A1C0027726Nephrotic Syndrome1CTD_human
HgeneCOL1A1C0029172Oral Submucous Fibrosis1CTD_human
HgeneCOL1A1C0029434Osteogenesis Imperfecta1CTD_human;GENOMICS_ENGLAND
HgeneCOL1A1C0149721Left Ventricular Hypertrophy1CTD_human
HgeneCOL1A1C0220679Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified1ORPHANET
HgeneCOL1A1C0263628Tumoral calcinosis1CTD_human
HgeneCOL1A1C0340643Dissection of aorta1CTD_human
HgeneCOL1A1C0521174Microcalcification1CTD_human
HgeneCOL1A1C1458140Bleeding tendency1GENOMICS_ENGLAND
HgeneCOL1A1C1619692Nephrogenic Fibrosing Dermopathy1CTD_human
HgeneCOL1A1C1623038Cirrhosis1CTD_human
HgeneCOL1A1C1846545Autoimmune Lymphoproliferative Syndrome Type 2B1GENOMICS_ENGLAND
HgeneCOL1A1C3830362Early Pregnancy Loss1CTD_human
HgeneCOL1A1C4277533Dissection, Blood Vessel1CTD_human
HgeneCOL1A1C4552766Miscarriage1CTD_human
TgeneC1849157Resistance to Insulin-Like Growth Factor I5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0004238Atrial Fibrillation2CTD_human
TgeneC0024115Lung diseases2CTD_human
TgeneC0235480Paroxysmal atrial fibrillation2CTD_human
TgeneC0235833Congenital diaphragmatic hernia2CTD_human
TgeneC0265699Congenital hernia of foramen of Morgagni2CTD_human
TgeneC0265700Congenital hernia of foramen of Bochdalek2CTD_human
TgeneC2239176Liver carcinoma2CTD_human
TgeneC2585653Persistent atrial fibrillation2CTD_human
TgeneC3468561familial atrial fibrillation2CTD_human
TgeneC0002395Alzheimer's Disease1CTD_human
TgeneC0006142Malignant neoplasm of breast1CTD_human
TgeneC0007114Malignant neoplasm of skin1CTD_human
TgeneC0007621Neoplastic Cell Transformation1CTD_human
TgeneC0011265Presenile dementia1CTD_human
TgeneC0014170Endometrial Neoplasms1CTD_human
TgeneC0015934Fetal Growth Retardation1CTD_human
TgeneC0018273Growth Disorders1CTD_human
TgeneC0030567Parkinson Disease1CTD_human
TgeneC0035229Respiratory Insufficiency1CTD_human
TgeneC0037286Skin Neoplasms1CTD_human
TgeneC0087031Juvenile-Onset Still Disease1CTD_human
TgeneC0206686Adrenocortical carcinoma1CTD_human
TgeneC0235063Respiratory Depression1CTD_human
TgeneC0276496Familial Alzheimer Disease (FAD)1CTD_human
TgeneC0424605Developmental delay (disorder)1GENOMICS_ENGLAND
TgeneC0476089Endometrial Carcinoma1CTD_human
TgeneC0494463Alzheimer Disease, Late Onset1CTD_human
TgeneC0546126Acute Confusional Senile Dementia1CTD_human
TgeneC0557874Global developmental delay1GENOMICS_ENGLAND
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC0750900Alzheimer's Disease, Focal Onset1CTD_human
TgeneC0750901Alzheimer Disease, Early Onset1CTD_human
TgeneC0752347Lewy Body Disease1CTD_human
TgeneC1145670Respiratory Failure1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC3495559Juvenile arthritis1CTD_human
TgeneC3714758Juvenile psoriatic arthritis1CTD_human
TgeneC4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
TgeneC4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human
TgeneC4721453Peripheral Nervous System Diseases1CTD_human