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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:IGF1R-EFTUD1

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: IGF1R-EFTUD1
	FusionPDB ID: 38477
	FusionGDB2.0 ID: 38477
		Hgene	Tgene
	Gene symbol	IGF1R	EFTUD1
	Gene ID	3480	79631
	Gene name	insulin like growth factor 1 receptor	elongation factor like GTPase 1
	Synonyms	CD221\|IGFIR\|IGFR\|JTK13	EFTUD1\|FAM42A\|HsT19294\|RIA1\|SDS2
	Cytomap	15q26.3	15q25.2
	Type of gene	protein-coding	protein-coding
	Description	insulin-like growth factor 1 receptorIGF-I receptorsoluble IGF1R variant 1soluble IGF1R variant 2	elongation factor-like GTPase 1elongation factor Tu GTP binding domain containing 1elongation factor Tu GTP-binding domain-containing protein 1elongation factor-like 1ribosome assembly 1 homolog
	Modification date	20200329	20200313
	UniProtAcc	P08069	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000268035, ENST00000558762, ENST00000560432,	ENST00000561331, ENST00000268206, ENST00000359445,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	24 X 15 X 6=2160	5 X 2 X 4=40
	# samples	25	5
	** MAII score	log2(25/2160*10)=-3.11103131238874 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(5/40*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)	PubMed: IGF1R [Title/Abstract] AND EFTUD1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	IGF1R(99251336)-EFTUD1(82456325), # samples:1
Anticipated loss of major functional domain due to fusion event.	IGF1R-EFTUD1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. IGF1R-EFTUD1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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	IGF1R	GO:0043066	negative regulation of apoptotic process	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
Hgene	IGF1R	GO:0048015	phosphatidylinositol-mediated signaling	7692086
Hgene	IGF1R	GO:0051389	inactivation of MAPKK activity	12556535
Tgene	EFTUD1	GO:0046039	GTP metabolic process	21536732

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.

Fusion gene breakpoints across EFTUD1 (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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Fusion Gene Sample Information

Fusion gene information from FusionGDB2.0.

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	STAD	TCGA-CD-8528-01A	IGF1R	chr15	99251336	+	EFTUD1	chr15	82456325	-

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Fusion ORF Analysis

Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.

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)
ENST00000268035	IGF1R	chr15	99251336	+	ENST00000268206	EFTUD1	chr15	82456325	-	3007	1251	611	2863	750
ENST00000268035	IGF1R	chr15	99251336	+	ENST00000359445	EFTUD1	chr15	82456325	-	3004	1251	611	2863	750
ENST00000558762	IGF1R	chr15	99251336	+	ENST00000268206	EFTUD1	chr15	82456325	-	2934	1178	538	2790	750
ENST00000558762	IGF1R	chr15	99251336	+	ENST00000359445	EFTUD1	chr15	82456325	-	2931	1178	538	2790	750

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
ENST00000268035	ENST00000268206	IGF1R	chr15	99251336	+	EFTUD1	chr15	82456325	-	0.00169305	0.998307
ENST00000268035	ENST00000359445	IGF1R	chr15	99251336	+	EFTUD1	chr15	82456325	-	0.00170045	0.99829954
ENST00000558762	ENST00000268206	IGF1R	chr15	99251336	+	EFTUD1	chr15	82456325	-	0.001519283	0.99848074
ENST00000558762	ENST00000359445	IGF1R	chr15	99251336	+	EFTUD1	chr15	82456325	-	0.001527593	0.9984724

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Fusion Amino Acid Sequences

For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>38477_38477_1_IGF1R-EFTUD1_IGF1R_chr15_99251336_ENST00000268035_EFTUD1_chr15_82456325_ENST00000268206_length(amino acids)=750AA_BP=214
MKSGSGGGSPTSLWGLLFLSAALSLWPTSGEICGPGIDIRNDYQQLKRLENCTVIEGYLHILLISKAEDYRSYRFPKLTVITEYLLLFRV
AGLESLGDLFPNLTVIRGWKLFYNYALVIFEMTNLKDIGLYNLRNITRGAIRIEKNADLCYLSTVDWSLILDAVSNNYIVGNKPPKECGD
LCPGTMEEKPMCEKTTINNEYNYRCWTTNRCQKRIGGLQDFVLKSATLCSLPSCPPFIPLNFEATPIVRVAVEPKHPSEMPQLVKGMKLL
NQADPCVQILIQETGEHVLVTAGEVHLQRCLDDLKERFAKIHISVSEPIIPFRETITKPPKVDMVNEEIGKQQKVAVIHQMKEDQSKIPE
GIQVDSDGLITITTPNKLATLSVRAMPLPEEVTQILEENSDLIRSMEQLTSSLNEGENTHMIHQKTQEKIWEFKGKLEQHLTGRRWRNIV
DQIWSFGPRKCGPNILVNKSEDFQNSVWTGPADKASKEASRYRDLGNSIVSGFQLATLSGPMCEEPLMGVCFVLEKWDLSKFEEQGASDL
AKEGQEENETCSGGNENQELQDGCSEAFEKRTSQKGESPLTDCYGPFSGQLIATMKEACRYALQVKPQRLMAAMYTCDIMATGDVLGRVY
AVLSKREGRVLQEEMKEGTDMFIIKAVLPVAESFGFADEIRKRTSGLASPQLVFSHWEIIPSDPFWVPTTEEEYLHFGEKADSENQARKY

--------------------------------------------------------------

>38477_38477_2_IGF1R-EFTUD1_IGF1R_chr15_99251336_ENST00000268035_EFTUD1_chr15_82456325_ENST00000359445_length(amino acids)=750AA_BP=214
MKSGSGGGSPTSLWGLLFLSAALSLWPTSGEICGPGIDIRNDYQQLKRLENCTVIEGYLHILLISKAEDYRSYRFPKLTVITEYLLLFRV
AGLESLGDLFPNLTVIRGWKLFYNYALVIFEMTNLKDIGLYNLRNITRGAIRIEKNADLCYLSTVDWSLILDAVSNNYIVGNKPPKECGD
LCPGTMEEKPMCEKTTINNEYNYRCWTTNRCQKRIGGLQDFVLKSATLCSLPSCPPFIPLNFEATPIVRVAVEPKHPSEMPQLVKGMKLL
NQADPCVQILIQETGEHVLVTAGEVHLQRCLDDLKERFAKIHISVSEPIIPFRETITKPPKVDMVNEEIGKQQKVAVIHQMKEDQSKIPE
GIQVDSDGLITITTPNKLATLSVRAMPLPEEVTQILEENSDLIRSMEQLTSSLNEGENTHMIHQKTQEKIWEFKGKLEQHLTGRRWRNIV
DQIWSFGPRKCGPNILVNKSEDFQNSVWTGPADKASKEASRYRDLGNSIVSGFQLATLSGPMCEEPLMGVCFVLEKWDLSKFEEQGASDL
AKEGQEENETCSGGNENQELQDGCSEAFEKRTSQKGESPLTDCYGPFSGQLIATMKEACRYALQVKPQRLMAAMYTCDIMATGDVLGRVY
AVLSKREGRVLQEEMKEGTDMFIIKAVLPVAESFGFADEIRKRTSGLASPQLVFSHWEIIPSDPFWVPTTEEEYLHFGEKADSENQARKY

--------------------------------------------------------------

>38477_38477_3_IGF1R-EFTUD1_IGF1R_chr15_99251336_ENST00000558762_EFTUD1_chr15_82456325_ENST00000268206_length(amino acids)=750AA_BP=214
MKSGSGGGSPTSLWGLLFLSAALSLWPTSGEICGPGIDIRNDYQQLKRLENCTVIEGYLHILLISKAEDYRSYRFPKLTVITEYLLLFRV
AGLESLGDLFPNLTVIRGWKLFYNYALVIFEMTNLKDIGLYNLRNITRGAIRIEKNADLCYLSTVDWSLILDAVSNNYIVGNKPPKECGD
LCPGTMEEKPMCEKTTINNEYNYRCWTTNRCQKRIGGLQDFVLKSATLCSLPSCPPFIPLNFEATPIVRVAVEPKHPSEMPQLVKGMKLL
NQADPCVQILIQETGEHVLVTAGEVHLQRCLDDLKERFAKIHISVSEPIIPFRETITKPPKVDMVNEEIGKQQKVAVIHQMKEDQSKIPE
GIQVDSDGLITITTPNKLATLSVRAMPLPEEVTQILEENSDLIRSMEQLTSSLNEGENTHMIHQKTQEKIWEFKGKLEQHLTGRRWRNIV
DQIWSFGPRKCGPNILVNKSEDFQNSVWTGPADKASKEASRYRDLGNSIVSGFQLATLSGPMCEEPLMGVCFVLEKWDLSKFEEQGASDL
AKEGQEENETCSGGNENQELQDGCSEAFEKRTSQKGESPLTDCYGPFSGQLIATMKEACRYALQVKPQRLMAAMYTCDIMATGDVLGRVY
AVLSKREGRVLQEEMKEGTDMFIIKAVLPVAESFGFADEIRKRTSGLASPQLVFSHWEIIPSDPFWVPTTEEEYLHFGEKADSENQARKY

--------------------------------------------------------------

>38477_38477_4_IGF1R-EFTUD1_IGF1R_chr15_99251336_ENST00000558762_EFTUD1_chr15_82456325_ENST00000359445_length(amino acids)=750AA_BP=214
MKSGSGGGSPTSLWGLLFLSAALSLWPTSGEICGPGIDIRNDYQQLKRLENCTVIEGYLHILLISKAEDYRSYRFPKLTVITEYLLLFRV
AGLESLGDLFPNLTVIRGWKLFYNYALVIFEMTNLKDIGLYNLRNITRGAIRIEKNADLCYLSTVDWSLILDAVSNNYIVGNKPPKECGD
LCPGTMEEKPMCEKTTINNEYNYRCWTTNRCQKRIGGLQDFVLKSATLCSLPSCPPFIPLNFEATPIVRVAVEPKHPSEMPQLVKGMKLL
NQADPCVQILIQETGEHVLVTAGEVHLQRCLDDLKERFAKIHISVSEPIIPFRETITKPPKVDMVNEEIGKQQKVAVIHQMKEDQSKIPE
GIQVDSDGLITITTPNKLATLSVRAMPLPEEVTQILEENSDLIRSMEQLTSSLNEGENTHMIHQKTQEKIWEFKGKLEQHLTGRRWRNIV
DQIWSFGPRKCGPNILVNKSEDFQNSVWTGPADKASKEASRYRDLGNSIVSGFQLATLSGPMCEEPLMGVCFVLEKWDLSKFEEQGASDL
AKEGQEENETCSGGNENQELQDGCSEAFEKRTSQKGESPLTDCYGPFSGQLIATMKEACRYALQVKPQRLMAAMYTCDIMATGDVLGRVY
AVLSKREGRVLQEEMKEGTDMFIIKAVLPVAESFGFADEIRKRTSGLASPQLVFSHWEIIPSDPFWVPTTEEEYLHFGEKADSENQARKY

--------------------------------------------------------------

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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/chr15:99251336/chr15:82456325)
- 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 P08069	.
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: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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
download page
* Minus value of BPloci means that the break pointn is located before the CDS.

- 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

- 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

Hgene

IGF1R

chr15:99251336

chr15:82456325

ENST00000268035

491_609

213.33333333333334

1368.0

Domain

Fibronectin type-III 1

Hgene

IGF1R

chr15:99251336

chr15:82456325

ENST00000268035

610_708

213.33333333333334

1368.0

Domain

Fibronectin type-III 2

Hgene

IGF1R

chr15:99251336

chr15:82456325

ENST00000268035

735_828

213.33333333333334

1368.0

Domain

Fibronectin type-III 3

Hgene

IGF1R

chr15:99251336

chr15:82456325

ENST00000268035

834_927

213.33333333333334

1368.0

Domain

Fibronectin type-III 4

Hgene

IGF1R

chr15:99251336

chr15:82456325

ENST00000268035

999_1274

213.33333333333334

1368.0

Domain

Protein kinase

Hgene

IGF1R

chr15:99251336

chr15:82456325

ENST00000268035

977_980

213.33333333333334

1368.0

Motif

Note=IRS1- and SHC1-binding

Hgene

IGF1R

chr15:99251336

chr15:82456325

ENST00000268035

1005_1013

213.33333333333334

1368.0

Nucleotide binding

ATP

Hgene

IGF1R

chr15:99251336

chr15:82456325

ENST00000268035

741_935

213.33333333333334

1368.0

Topological domain

Extracellular

Hgene

IGF1R

chr15:99251336

chr15:82456325

ENST00000268035

960_1367

213.33333333333334

1368.0

Topological domain

Cytoplasmic

Hgene

IGF1R

chr15:99251336

chr15:82456325

ENST00000268035

936_959

213.33333333333334

1368.0

Transmembrane

Helical

Tgene

EFTUD1

chr15:99251336

chr15:82456325

ENST00000268206

17_272

583.3333333333334

1121.0

Domain

tr-type G

Tgene

EFTUD1

chr15:99251336

chr15:82456325

ENST00000359445

17_272

532.3333333333334

1070.0

Domain

tr-type G

Tgene

EFTUD1

chr15:99251336

chr15:82456325

ENST00000268206

146_149

583.3333333333334

1121.0

Nucleotide binding

GTP

Tgene

EFTUD1

chr15:99251336

chr15:82456325

ENST00000268206

26_33

583.3333333333334

1121.0

Nucleotide binding

GTP

Tgene

EFTUD1

chr15:99251336

chr15:82456325

ENST00000268206

92_96

583.3333333333334

1121.0

Nucleotide binding

GTP

Tgene

EFTUD1

chr15:99251336

chr15:82456325

ENST00000359445

146_149

532.3333333333334

1070.0

Nucleotide binding

GTP

Tgene

EFTUD1

chr15:99251336

chr15:82456325

ENST00000359445

26_33

532.3333333333334

1070.0

Nucleotide binding

GTP

Tgene

EFTUD1

chr15:99251336

chr15:82456325

ENST00000359445

92_96

532.3333333333334

1070.0

Nucleotide binding

GTP

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Fusion Protein-Protein Interaction

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160)

Gene

PPI interactors

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
IGF1R
EFTUD1

- Retained interactions in fusion protein (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost interactions due to fusion (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs to IGF1R-EFTUD1

Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Drug

Source

PMID

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Related Diseases to IGF1R-EFTUD1

Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Disease

Source

PMID

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source