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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 17232

FusionGeneSummary for IGHG1_IGF1R

check button Fusion gene summary
Fusion gene informationFusion gene name: IGHG1_IGF1R
Fusion gene ID: 17232
HgeneTgene
Gene symbol

IGHG1

IGF1R

Gene ID

3500

3480

Gene nameimmunoglobulin heavy constant gamma 1 (G1m marker)insulin like growth factor 1 receptor
Synonyms-CD221|IGFIR|IGFR|JTK13
Cytomap

14q32.33

15q26.3

Type of geneotherprotein-coding
Descriptionconstant region of heavy chain of IgG1immunoglobulin gamma 1 (Gm marker)insulin-like growth factor 1 receptorIGF-I receptorsoluble IGF1R variant 1soluble IGF1R variant 2
Modification date2018052320180527
UniProtAcc

P01857

P08069

Ensembl transtripts involved in fusion geneENST00000390548, ENST00000268035, 
ENST00000558762, ENST00000560432, 
Fusion gene scores* DoF score43 X 54 X 5=116107 X 6 X 4=168
# samples 598
** MAII scorelog2(59/11610*10)=-4.29850920750373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/168*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: IGHG1 [Title/Abstract] AND IGF1R [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
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:0051262

protein tetramerization

1846292

TgeneIGF1R

GO:0051389

inactivation of MAPKK activity

12556535


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1AW000759IGHG1chr22

23237948

-IGF1Rchr15

99352478

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
intron-intronENST00000390548ENST00000268035IGHG1chr22

23237948

-IGF1Rchr15

99352478

+
intron-intronENST00000390548ENST00000558762IGHG1chr22

23237948

-IGF1Rchr15

99352478

+
intron-intronENST00000390548ENST00000560432IGHG1chr22

23237948

-IGF1Rchr15

99352478

+

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FusionProtFeatures for IGHG1_IGF1R


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
IGHG1

P01857

IGF1R

P08069

Constant region of immunoglobulin heavy chains.Immunoglobulins, also known as antibodies, are membrane-bound orsecreted glycoproteins produced by B lymphocytes. In therecognition phase of humoral immunity, the membrane-boundimmunoglobulins serve as receptors which, upon binding of aspecific antigen, trigger the clonal expansion and differentiationof B lymphocytes into immunoglobulins-secreting plasma cells.Secreted immunoglobulins mediate the effector phase of humoralimmunity, which results in the elimination of bound antigens(PubMed:22158414, PubMed:20176268). The antigen binding site isformed by the variable domain of one heavy chain, together withthat of its associated light chain. Thus, each immunoglobulin hastwo antigen binding sites with remarkable affinity for aparticular antigen. The variable domains are assembled by aprocess called V-(D)-J rearrangement and can then be subjected tosomatic hypermutations which, after exposure to antigen andselection, allow affinity maturation for a particular antigen(PubMed:17576170, PubMed:20176268). {ECO:0000303|PubMed:17576170,ECO:0000303|PubMed:20176268, ECO:0000303|PubMed:22158414}. Receptor tyrosine kinase which mediates actions ofinsulin-like growth factor 1 (IGF1). Binds IGF1 with high affinityand IGF2 and insulin (INS) with a lower affinity. The activatedIGF1R is involved in cell growth and survival control. IGF1R iscrucial for tumor transformation and survival of malignant cell.Ligand binding activates the receptor kinase, leading to receptorautophosphorylation, and tyrosines phosphorylation of multiplesubstrates, 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 twomain signaling pathways: the PI3K-AKT/PKB pathway and the Ras-MAPKpathway. The result of activating the MAPK pathway is increasedcellular proliferation, whereas activating the PI3K pathwayinhibits apoptosis and stimulates protein synthesis.Phosphorylated IRS1 can activate the 85 kDa regulatory subunit ofPI3K (PIK3R1), leading to activation of several downstreamsubstrates, including protein AKT/PKB. AKT phosphorylation, inturn, enhances protein synthesis through mTOR activation andtriggers the antiapoptotic effects of IGFIR throughphosphorylation and inactivation of BAD. In parallel to PI3K-driven signaling, recruitment of Grb2/SOS by phosphorylated IRS1or Shc leads to recruitment of Ras and activation of the ras-MAPKpathway. In addition to these two main signaling pathways IGF1Rsignals also through the Janus kinase/signal transducer andactivator of transcription pathway (JAK/STAT). Phosphorylation ofJAK proteins can lead to phosphorylation/activation of signaltransducers and activators of transcription (STAT) proteins. Inparticular activation of STAT3, may be essential for thetransforming activity of IGF1R. The JAK/STAT pathway activatesgene transcription and may be responsible for the transformingactivity. JNK kinases can also be activated by the IGF1R. IGF1exerts inhibiting activities on JNK activation via phosphorylationand inhibition of MAP3K5/ASK1, which is able to directly associatewith the IGF1R. When present in a hybrid receptor with INSR, binds IGF1.PubMed:12138094 shows that hybrid receptors composed of IGF1R andINSR isoform Long are activated with a high affinity by IGF1, withlow affinity by IGF2 and not significantly activated by insulin,and that hybrid receptors composed of IGF1R and INSR isoform Shortare activated by IGF1, IGF2 and insulin. In contrast,PubMed:16831875 shows that hybrid receptors composed of IGF1R andINSR isoform Long and hybrid receptors composed of IGF1R and INSRisoform Short have similar binding characteristics, both bind IGF1and 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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FusionGeneSequence for IGHG1_IGF1R


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for IGHG1_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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RelatedDrugs for IGHG1_IGF1R


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneIGF1RP08069DB00046Insulin LisproInsulin-like growth factor 1 receptorbiotechapproved
TgeneIGF1RP08069DB00047Insulin GlargineInsulin-like growth factor 1 receptorbiotechapproved
TgeneIGF1RP08069DB00071Insulin PorkInsulin-like growth factor 1 receptorbiotechapproved
TgeneIGF1RP08069DB00030Insulin HumanInsulin-like growth factor 1 receptorbiotechapproved|investigational
TgeneIGF1RP08069DB01277MecaserminInsulin-like growth factor 1 receptorbiotechapproved|investigational
TgeneIGF1RP08069DB09098SomatremInsulin-like growth factor 1 receptorbiotechapproved|investigational|withdrawn

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RelatedDiseases for IGHG1_IGF1R


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneIGHG1C0027121Myositis1CTD_human
HgeneIGHG1C0032460Polycystic Ovary Syndrome1CTD_human
TgeneIGF1RC1849157Insulin-Like Growth Factor I, Resistance To3CTD_human;ORPHANET;UNIPROT
TgeneIGF1RC0024115Lung diseases2CTD_human
TgeneIGF1RC0235833Congenital diaphragmatic hernia2CTD_human
TgeneIGF1RC2239176Liver carcinoma2CTD_human
TgeneIGF1RC0002395Alzheimer's Disease1CTD_human
TgeneIGF1RC0007621Neoplastic Cell Transformation1CTD_human
TgeneIGF1RC0014170Endometrial Neoplasms1CTD_human
TgeneIGF1RC0015934Fetal Growth Retardation1CTD_human;HPO
TgeneIGF1RC0018273Growth Disorders1CTD_human
TgeneIGF1RC0030567Parkinson Disease1CTD_human
TgeneIGF1RC0031117Peripheral Neuropathy1CTD_human
TgeneIGF1RC0035229Respiratory Insufficiency1CTD_human
TgeneIGF1RC0037286Skin Neoplasms1CTD_human
TgeneIGF1RC0206686Adrenocortical carcinoma1CTD_human
TgeneIGF1RC0752347Lewy Body Disease1CTD_human
TgeneIGF1RC1458155Mammary Neoplasms1CTD_human
TgeneIGF1RC3495559Juvenile arthritis1CTD_human