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in Kim Lab

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Center for Computational Systems Medicine
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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:IGF1R-EFTUD1 (FusionGDB2 ID:HG3480TG79631)

Fusion Gene Summary for IGF1R-EFTUD1

check button Fusion gene summary
Fusion gene informationFusion gene name: IGF1R-EFTUD1
Fusion gene ID: hg3480tg79631
HgeneTgene
Gene symbol

IGF1R

EFTUD1

Gene ID

3480

79631

Gene nameinsulin like growth factor 1 receptorelongation factor like GTPase 1
SynonymsCD221|IGFIR|IGFR|JTK13EFTUD1|FAM42A|HsT19294|RIA1|SDS2
Cytomap('IGF1R','IGF1R')('EFL1','EFTUD1')

15q26.3

15q25.2

Type of geneprotein-codingprotein-coding
Descriptioninsulin-like growth factor 1 receptorIGF-I receptorsoluble IGF1R variant 1soluble IGF1R variant 2elongation 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 date2020032920200313
UniProtAcc

P08069

.
Ensembl transtripts involved in fusion geneENST00000268035, ENST00000558762, 
ENST00000560432, 
Fusion gene scores* DoF score24 X 15 X 6=21605 X 2 X 4=40
# samples 255
** MAII scorelog2(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

PubMed: IGF1R [Title/Abstract] AND EFTUD1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointIGF1R(99251336)-EFL1(82456325), # samples:1
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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneIGF1R

GO:0043066

negative regulation of apoptotic process

12556535

HgeneIGF1R

GO:0046328

regulation of JNK cascade

12556535

HgeneIGF1R

GO:0046777

protein autophosphorylation

1846292|7679099|11162456

HgeneIGF1R

GO:0048009

insulin-like growth factor receptor signaling pathway

7679099

HgeneIGF1R

GO:0048015

phosphatidylinositol-mediated signaling

7692086

HgeneIGF1R

GO:0051389

inactivation of MAPKK activity

12556535

TgeneEFTUD1

GO:0046039

GTP metabolic process

21536732


check buttonFusion 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.
all structure
check buttonFusion 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.
all structure

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
ChimerDB4STADTCGA-CD-8528-01AIGF1Rchr15

99251336

+EFL1chr15

82456325

-
ChimerDB4STADTCGA-CD-8528-01AIGF1Rchr15

99251336

+EFTUD1chr15

82456325

-


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Fusion Gene ORF analysis for IGF1R-EFTUD1

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-intronENST00000268035ENST00000561331IGF1Rchr15

99251336

+EFTUD1chr15

82456325

-
5CDS-intronENST00000558762ENST00000561331IGF1Rchr15

99251336

+EFTUD1chr15

82456325

-
In-frameENST00000268035ENST00000268206IGF1Rchr15

99251336

+EFTUD1chr15

82456325

-
In-frameENST00000268035ENST00000359445IGF1Rchr15

99251336

+EFTUD1chr15

82456325

-
In-frameENST00000558762ENST00000268206IGF1Rchr15

99251336

+EFTUD1chr15

82456325

-
In-frameENST00000558762ENST00000359445IGF1Rchr15

99251336

+EFTUD1chr15

82456325

-
intron-3CDSENST00000560432ENST00000268206IGF1Rchr15

99251336

+EFTUD1chr15

82456325

-
intron-3CDSENST00000560432ENST00000359445IGF1Rchr15

99251336

+EFTUD1chr15

82456325

-
intron-intronENST00000560432ENST00000561331IGF1Rchr15

99251336

+EFTUD1chr15

82456325

-

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)
ENST00000268035IGF1Rchr1599251336+ENST00000268206EFTUD1chr1582456325-300712516112863750
ENST00000268035IGF1Rchr1599251336+ENST00000359445EFTUD1chr1582456325-300412516112863750
ENST00000558762IGF1Rchr1599251336+ENST00000268206EFTUD1chr1582456325-293411785382790750
ENST00000558762IGF1Rchr1599251336+ENST00000359445EFTUD1chr1582456325-293111785382790750

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
ENST00000268035ENST00000268206IGF1Rchr1599251336+EFTUD1chr1582456325-0.001693050.998307
ENST00000268035ENST00000359445IGF1Rchr1599251336+EFTUD1chr1582456325-0.001700450.99829954
ENST00000558762ENST00000268206IGF1Rchr1599251336+EFTUD1chr1582456325-0.0015192830.99848074
ENST00000558762ENST00000359445IGF1Rchr1599251336+EFTUD1chr1582456325-0.0015275930.9984724

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Fusion Genomic Features for IGF1R-EFTUD1


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)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

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Fusion Protein Features for IGF1R-EFTUD1


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/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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
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: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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
HgeneIGF1Rchr15:99251336chr15:82456325ENST00000268035+221491_6092131368.0DomainFibronectin type-III 1
HgeneIGF1Rchr15:99251336chr15:82456325ENST00000268035+221610_7082131368.0DomainFibronectin type-III 2
HgeneIGF1Rchr15:99251336chr15:82456325ENST00000268035+221735_8282131368.0DomainFibronectin type-III 3
HgeneIGF1Rchr15:99251336chr15:82456325ENST00000268035+221834_9272131368.0DomainFibronectin type-III 4
HgeneIGF1Rchr15:99251336chr15:82456325ENST00000268035+221999_12742131368.0DomainProtein kinase
HgeneIGF1Rchr15:99251336chr15:82456325ENST00000268035+221977_9802131368.0MotifNote=IRS1- and SHC1-binding
HgeneIGF1Rchr15:99251336chr15:82456325ENST00000268035+2211005_10132131368.0Nucleotide bindingATP
HgeneIGF1Rchr15:99251336chr15:82456325ENST00000268035+221741_9352131368.0Topological domainExtracellular
HgeneIGF1Rchr15:99251336chr15:82456325ENST00000268035+221960_13672131368.0Topological domainCytoplasmic
HgeneIGF1Rchr15:99251336chr15:82456325ENST00000268035+221936_9592131368.0TransmembraneHelical
TgeneEFTUD1chr15:99251336chr15:82456325ENST00000268206142017_2725831121.0Domaintr-type G
TgeneEFTUD1chr15:99251336chr15:82456325ENST00000359445121817_2725321070.0Domaintr-type G
TgeneEFTUD1chr15:99251336chr15:82456325ENST000002682061420146_1495831121.0Nucleotide bindingGTP
TgeneEFTUD1chr15:99251336chr15:82456325ENST00000268206142026_335831121.0Nucleotide bindingGTP
TgeneEFTUD1chr15:99251336chr15:82456325ENST00000268206142092_965831121.0Nucleotide bindingGTP
TgeneEFTUD1chr15:99251336chr15:82456325ENST000003594451218146_1495321070.0Nucleotide bindingGTP
TgeneEFTUD1chr15:99251336chr15:82456325ENST00000359445121826_335321070.0Nucleotide bindingGTP
TgeneEFTUD1chr15:99251336chr15:82456325ENST00000359445121892_965321070.0Nucleotide bindingGTP


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Fusion Gene Sequence for IGF1R-EFTUD1


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.
>38477_38477_1_IGF1R-EFTUD1_IGF1R_chr15_99251336_ENST00000268035_EFTUD1_chr15_82456325_ENST00000268206_length(transcript)=3007nt_BP=1251nt
GGGAAGGAGCTCGCCGCGGCGGCGGCGGCGCTGAGGGAGGAGGCGGCGGCGAGCGGAGCCAGGAGGAGGAGGAGGAGGGGGAGCCGCTCA
TTCATTTTGACTCCGCGTTTCTGCCCCTCGCCGGCCTCGCCTGTGACCCGGACTTCGGGGCGATCTTGCGAACTGCGTCGCGCCCTCCCG
CGGCGGAAGCTCGGGCGTCCGGCCGCCTCCCGCGCGGCCAGGGCCGGGCTTGTTTTTCCTCGCCTAGGCAGATTTGGGCTTTGCCCCCTT
TCTTTGCAGTTTTCCCCCCTTCCTGCCTCTCCGGGTTTGAAAATGGAGGCCGACGACGCCGACAGCCCGCCCCGGCGCGCCTCGGGTTCC
CGACTCCGCCGAGCCCTGGGCCGCTGCTGCCGGCGCTGAGGGGCCGCCCCGCGCCGCCCGCCCCGTCCGCGCACCCGGAGGGCCCCGGCG
GCGCCGCCTTCGGAGTATTGTTTCCTTCGCCCTTGTTTTTGGAGGGGGAGCGAAGACTGAGTTTGAGACTTGTTTCCTTTCATTTCCTTT
TTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGAAAGGGGAATTTCATCCCAAATAAAAGGAATGAAGTCTGGCTCCGGAG
GAGGGTCCCCGACCTCGCTGTGGGGGCTCCTGTTTCTCTCCGCCGCGCTCTCGCTCTGGCCGACGAGTGGAGAAATCTGCGGGCCAGGCA
TCGACATCCGCAACGACTATCAGCAGCTGAAGCGCCTGGAGAACTGCACGGTGATCGAGGGCTACCTCCACATCCTGCTCATCTCCAAGG
CCGAGGACTACCGCAGCTACCGCTTCCCCAAGCTCACGGTCATTACCGAGTACTTGCTGCTGTTCCGAGTGGCTGGCCTCGAGAGCCTCG
GAGACCTCTTCCCCAACCTCACGGTCATCCGCGGCTGGAAACTCTTCTACAACTACGCCCTGGTCATCTTCGAGATGACCAATCTCAAGG
ATATTGGGCTTTACAACCTGAGGAACATTACTCGGGGGGCCATCAGGATTGAGAAAAATGCTGACCTCTGTTACCTCTCCACTGTGGACT
GGTCCCTGATCCTGGATGCGGTGTCCAATAACTACATTGTGGGGAATAAGCCCCCAAAGGAATGTGGGGACCTGTGTCCAGGGACCATGG
AGGAGAAGCCGATGTGTGAGAAGACCACCATCAACAATGAGTACAACTACCGCTGCTGGACCACAAACCGCTGCCAGAAAAGAATAGGAG
GCCTTCAAGATTTTGTGCTGAAATCTGCAACACTGTGTAGCCTGCCATCCTGCCCACCATTTATACCACTCAACTTCGAAGCCACTCCTA
TTGTGAGAGTTGCTGTTGAACCAAAACATCCAAGTGAAATGCCTCAGCTCGTAAAAGGAATGAAACTGTTAAACCAGGCTGATCCCTGTG
TCCAGATTTTAATTCAGGAAACGGGAGAGCACGTTTTAGTCACAGCAGGAGAAGTCCACCTTCAGCGATGCCTGGATGACTTAAAAGAAA
GGTTTGCAAAGATTCATATCAGTGTATCTGAACCTATTATTCCATTCAGAGAAACAATCACAAAACCCCCAAAAGTTGACATGGTCAATG
AAGAAATAGGCAAACAGCAAAAAGTTGCAGTCATACACCAAATGAAAGAAGATCAAAGCAAAATCCCTGAAGGAATCCAAGTTGACTCTG
ACGGGCTAATCACCATAACAACTCCCAATAAACTTGCCACGCTCAGTGTTCGAGCCATGCCCCTTCCAGAAGAAGTCACCCAGATTCTGG
AAGAAAATAGTGATTTGATTCGTTCTATGGAGCAGTTGACATCCTCTTTGAATGAGGGTGAAAATACTCACATGATTCATCAGAAGACCC
AAGAGAAAATTTGGGAATTCAAAGGAAAACTGGAGCAACACCTAACAGGGAGAAGATGGAGGAACATTGTTGACCAAATCTGGTCATTTG
GCCCAAGAAAATGTGGGCCCAACATACTAGTCAATAAAAGTGAAGATTTTCAGAACTCAGTATGGACAGGTCCAGCTGACAAAGCTTCAA
AAGAAGCCAGTAGATACCGAGATTTGGGCAATAGCATTGTGAGTGGCTTCCAACTAGCAACCCTCTCTGGCCCCATGTGTGAGGAGCCTC
TCATGGGTGTCTGTTTTGTTCTGGAAAAATGGGACCTAAGTAAATTTGAGGAACAAGGAGCAAGTGATCTGGCAAAAGAGGGACAGGAGG
AAAATGAAACCTGTTCTGGTGGAAATGAAAACCAAGAGCTACAAGATGGCTGCTCTGAGGCCTTTGAGAAGAGGACATCACAGAAAGGAG
AATCTCCACTCACTGACTGCTATGGACCTTTCTCAGGACAGCTAATTGCCACCATGAAAGAAGCATGTCGCTATGCACTGCAAGTGAAAC
CTCAGCGCCTGATGGCAGCTATGTACACATGTGACATCATGGCCACTGGTGATGTTCTCGGTCGAGTCTATGCTGTCTTGTCAAAGAGAG
AAGGTCGGGTACTTCAAGAAGAAATGAAAGAAGGGACAGACATGTTCATCATCAAGGCTGTGCTGCCTGTTGCTGAAAGCTTTGGTTTTG
CTGATGAAATCAGGAAGAGGACAAGTGGCCTGGCCAGCCCACAACTAGTATTCAGCCATTGGGAGATCATTCCCAGTGACCCCTTCTGGG
TGCCAACTACTGAGGAGGAATACTTGCACTTTGGGGAGAAGGCTGACTCTGAGAACCAAGCCCGGAAGTACATGAACGCAGTACGAAAGC
GGAAGGGGCTTTATGTGGAAGAAAAGATTGTGGAGCATGCAGAAAAGCAGAGGACACTCAGCAAAAATAAGTAGCTACCTACTACTGGTG
GATTCTTTTCCTTATAGTGAATTTAAAAGTATCATCAAGGGTTTAATATTGGGAAAATTTCTTTTTGCCACATTATCTCTGTTTATTCAC

>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(transcript)=3004nt_BP=1251nt
GGGAAGGAGCTCGCCGCGGCGGCGGCGGCGCTGAGGGAGGAGGCGGCGGCGAGCGGAGCCAGGAGGAGGAGGAGGAGGGGGAGCCGCTCA
TTCATTTTGACTCCGCGTTTCTGCCCCTCGCCGGCCTCGCCTGTGACCCGGACTTCGGGGCGATCTTGCGAACTGCGTCGCGCCCTCCCG
CGGCGGAAGCTCGGGCGTCCGGCCGCCTCCCGCGCGGCCAGGGCCGGGCTTGTTTTTCCTCGCCTAGGCAGATTTGGGCTTTGCCCCCTT
TCTTTGCAGTTTTCCCCCCTTCCTGCCTCTCCGGGTTTGAAAATGGAGGCCGACGACGCCGACAGCCCGCCCCGGCGCGCCTCGGGTTCC
CGACTCCGCCGAGCCCTGGGCCGCTGCTGCCGGCGCTGAGGGGCCGCCCCGCGCCGCCCGCCCCGTCCGCGCACCCGGAGGGCCCCGGCG
GCGCCGCCTTCGGAGTATTGTTTCCTTCGCCCTTGTTTTTGGAGGGGGAGCGAAGACTGAGTTTGAGACTTGTTTCCTTTCATTTCCTTT
TTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGAAAGGGGAATTTCATCCCAAATAAAAGGAATGAAGTCTGGCTCCGGAG
GAGGGTCCCCGACCTCGCTGTGGGGGCTCCTGTTTCTCTCCGCCGCGCTCTCGCTCTGGCCGACGAGTGGAGAAATCTGCGGGCCAGGCA
TCGACATCCGCAACGACTATCAGCAGCTGAAGCGCCTGGAGAACTGCACGGTGATCGAGGGCTACCTCCACATCCTGCTCATCTCCAAGG
CCGAGGACTACCGCAGCTACCGCTTCCCCAAGCTCACGGTCATTACCGAGTACTTGCTGCTGTTCCGAGTGGCTGGCCTCGAGAGCCTCG
GAGACCTCTTCCCCAACCTCACGGTCATCCGCGGCTGGAAACTCTTCTACAACTACGCCCTGGTCATCTTCGAGATGACCAATCTCAAGG
ATATTGGGCTTTACAACCTGAGGAACATTACTCGGGGGGCCATCAGGATTGAGAAAAATGCTGACCTCTGTTACCTCTCCACTGTGGACT
GGTCCCTGATCCTGGATGCGGTGTCCAATAACTACATTGTGGGGAATAAGCCCCCAAAGGAATGTGGGGACCTGTGTCCAGGGACCATGG
AGGAGAAGCCGATGTGTGAGAAGACCACCATCAACAATGAGTACAACTACCGCTGCTGGACCACAAACCGCTGCCAGAAAAGAATAGGAG
GCCTTCAAGATTTTGTGCTGAAATCTGCAACACTGTGTAGCCTGCCATCCTGCCCACCATTTATACCACTCAACTTCGAAGCCACTCCTA
TTGTGAGAGTTGCTGTTGAACCAAAACATCCAAGTGAAATGCCTCAGCTCGTAAAAGGAATGAAACTGTTAAACCAGGCTGATCCCTGTG
TCCAGATTTTAATTCAGGAAACGGGAGAGCACGTTTTAGTCACAGCAGGAGAAGTCCACCTTCAGCGATGCCTGGATGACTTAAAAGAAA
GGTTTGCAAAGATTCATATCAGTGTATCTGAACCTATTATTCCATTCAGAGAAACAATCACAAAACCCCCAAAAGTTGACATGGTCAATG
AAGAAATAGGCAAACAGCAAAAAGTTGCAGTCATACACCAAATGAAAGAAGATCAAAGCAAAATCCCTGAAGGAATCCAAGTTGACTCTG
ACGGGCTAATCACCATAACAACTCCCAATAAACTTGCCACGCTCAGTGTTCGAGCCATGCCCCTTCCAGAAGAAGTCACCCAGATTCTGG
AAGAAAATAGTGATTTGATTCGTTCTATGGAGCAGTTGACATCCTCTTTGAATGAGGGTGAAAATACTCACATGATTCATCAGAAGACCC
AAGAGAAAATTTGGGAATTCAAAGGAAAACTGGAGCAACACCTAACAGGGAGAAGATGGAGGAACATTGTTGACCAAATCTGGTCATTTG
GCCCAAGAAAATGTGGGCCCAACATACTAGTCAATAAAAGTGAAGATTTTCAGAACTCAGTATGGACAGGTCCAGCTGACAAAGCTTCAA
AAGAAGCCAGTAGATACCGAGATTTGGGCAATAGCATTGTGAGTGGCTTCCAACTAGCAACCCTCTCTGGCCCCATGTGTGAGGAGCCTC
TCATGGGTGTCTGTTTTGTTCTGGAAAAATGGGACCTAAGTAAATTTGAGGAACAAGGAGCAAGTGATCTGGCAAAAGAGGGACAGGAGG
AAAATGAAACCTGTTCTGGTGGAAATGAAAACCAAGAGCTACAAGATGGCTGCTCTGAGGCCTTTGAGAAGAGGACATCACAGAAAGGAG
AATCTCCACTCACTGACTGCTATGGACCTTTCTCAGGACAGCTAATTGCCACCATGAAAGAAGCATGTCGCTATGCACTGCAAGTGAAAC
CTCAGCGCCTGATGGCAGCTATGTACACATGTGACATCATGGCCACTGGTGATGTTCTCGGTCGAGTCTATGCTGTCTTGTCAAAGAGAG
AAGGTCGGGTACTTCAAGAAGAAATGAAAGAAGGGACAGACATGTTCATCATCAAGGCTGTGCTGCCTGTTGCTGAAAGCTTTGGTTTTG
CTGATGAAATCAGGAAGAGGACAAGTGGCCTGGCCAGCCCACAACTAGTATTCAGCCATTGGGAGATCATTCCCAGTGACCCCTTCTGGG
TGCCAACTACTGAGGAGGAATACTTGCACTTTGGGGAGAAGGCTGACTCTGAGAACCAAGCCCGGAAGTACATGAACGCAGTACGAAAGC
GGAAGGGGCTTTATGTGGAAGAAAAGATTGTGGAGCATGCAGAAAAGCAGAGGACACTCAGCAAAAATAAGTAGCTACCTACTACTGGTG
GATTCTTTTCCTTATAGTGAATTTAAAAGTATCATCAAGGGTTTAATATTGGGAAAATTTCTTTTTGCCACATTATCTCTGTTTATTCAC

>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(transcript)=2934nt_BP=1178nt
GGAGGGGGAGCCGCTCATTCATTTTGACTCCGCGTTTCTGCCCCTCGCCGGCCTCGCCTGTGACCCGGACTTCGGGGCGATCTTGCGAAC
TGCGTCGCGCCCTCCCGCGGCGGAAGCTCGGGCGTCCGGCCGCCTCCCGCGCGGCCAGGGCCGGGCTTGTTTTTCCTCGCCTAGGCAGAT
TTGGGCTTTGCCCCCTTTCTTTGCAGTTTTCCCCCCTTCCTGCCTCTCCGGGTTTGAAAATGGAGGCCGACGACGCCGACAGCCCGCCCC
GGCGCGCCTCGGGTTCCCGACTCCGCCGAGCCCTGGGCCGCTGCTGCCGGCGCTGAGGGGCCGCCCCGCGCCGCCCGCCCCGTCCGCGCA
CCCGGAGGGCCCCGGCGGCGCCGCCTTCGGAGTATTGTTTCCTTCGCCCTTGTTTTTGGAGGGGGAGCGAAGACTGAGTTTGAGACTTGT
TTCCTTTCATTTCCTTTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGAAAGGGGAATTTCATCCCAAATAAAAGGAAT
GAAGTCTGGCTCCGGAGGAGGGTCCCCGACCTCGCTGTGGGGGCTCCTGTTTCTCTCCGCCGCGCTCTCGCTCTGGCCGACGAGTGGAGA
AATCTGCGGGCCAGGCATCGACATCCGCAACGACTATCAGCAGCTGAAGCGCCTGGAGAACTGCACGGTGATCGAGGGCTACCTCCACAT
CCTGCTCATCTCCAAGGCCGAGGACTACCGCAGCTACCGCTTCCCCAAGCTCACGGTCATTACCGAGTACTTGCTGCTGTTCCGAGTGGC
TGGCCTCGAGAGCCTCGGAGACCTCTTCCCCAACCTCACGGTCATCCGCGGCTGGAAACTCTTCTACAACTACGCCCTGGTCATCTTCGA
GATGACCAATCTCAAGGATATTGGGCTTTACAACCTGAGGAACATTACTCGGGGGGCCATCAGGATTGAGAAAAATGCTGACCTCTGTTA
CCTCTCCACTGTGGACTGGTCCCTGATCCTGGATGCGGTGTCCAATAACTACATTGTGGGGAATAAGCCCCCAAAGGAATGTGGGGACCT
GTGTCCAGGGACCATGGAGGAGAAGCCGATGTGTGAGAAGACCACCATCAACAATGAGTACAACTACCGCTGCTGGACCACAAACCGCTG
CCAGAAAAGAATAGGAGGCCTTCAAGATTTTGTGCTGAAATCTGCAACACTGTGTAGCCTGCCATCCTGCCCACCATTTATACCACTCAA
CTTCGAAGCCACTCCTATTGTGAGAGTTGCTGTTGAACCAAAACATCCAAGTGAAATGCCTCAGCTCGTAAAAGGAATGAAACTGTTAAA
CCAGGCTGATCCCTGTGTCCAGATTTTAATTCAGGAAACGGGAGAGCACGTTTTAGTCACAGCAGGAGAAGTCCACCTTCAGCGATGCCT
GGATGACTTAAAAGAAAGGTTTGCAAAGATTCATATCAGTGTATCTGAACCTATTATTCCATTCAGAGAAACAATCACAAAACCCCCAAA
AGTTGACATGGTCAATGAAGAAATAGGCAAACAGCAAAAAGTTGCAGTCATACACCAAATGAAAGAAGATCAAAGCAAAATCCCTGAAGG
AATCCAAGTTGACTCTGACGGGCTAATCACCATAACAACTCCCAATAAACTTGCCACGCTCAGTGTTCGAGCCATGCCCCTTCCAGAAGA
AGTCACCCAGATTCTGGAAGAAAATAGTGATTTGATTCGTTCTATGGAGCAGTTGACATCCTCTTTGAATGAGGGTGAAAATACTCACAT
GATTCATCAGAAGACCCAAGAGAAAATTTGGGAATTCAAAGGAAAACTGGAGCAACACCTAACAGGGAGAAGATGGAGGAACATTGTTGA
CCAAATCTGGTCATTTGGCCCAAGAAAATGTGGGCCCAACATACTAGTCAATAAAAGTGAAGATTTTCAGAACTCAGTATGGACAGGTCC
AGCTGACAAAGCTTCAAAAGAAGCCAGTAGATACCGAGATTTGGGCAATAGCATTGTGAGTGGCTTCCAACTAGCAACCCTCTCTGGCCC
CATGTGTGAGGAGCCTCTCATGGGTGTCTGTTTTGTTCTGGAAAAATGGGACCTAAGTAAATTTGAGGAACAAGGAGCAAGTGATCTGGC
AAAAGAGGGACAGGAGGAAAATGAAACCTGTTCTGGTGGAAATGAAAACCAAGAGCTACAAGATGGCTGCTCTGAGGCCTTTGAGAAGAG
GACATCACAGAAAGGAGAATCTCCACTCACTGACTGCTATGGACCTTTCTCAGGACAGCTAATTGCCACCATGAAAGAAGCATGTCGCTA
TGCACTGCAAGTGAAACCTCAGCGCCTGATGGCAGCTATGTACACATGTGACATCATGGCCACTGGTGATGTTCTCGGTCGAGTCTATGC
TGTCTTGTCAAAGAGAGAAGGTCGGGTACTTCAAGAAGAAATGAAAGAAGGGACAGACATGTTCATCATCAAGGCTGTGCTGCCTGTTGC
TGAAAGCTTTGGTTTTGCTGATGAAATCAGGAAGAGGACAAGTGGCCTGGCCAGCCCACAACTAGTATTCAGCCATTGGGAGATCATTCC
CAGTGACCCCTTCTGGGTGCCAACTACTGAGGAGGAATACTTGCACTTTGGGGAGAAGGCTGACTCTGAGAACCAAGCCCGGAAGTACAT
GAACGCAGTACGAAAGCGGAAGGGGCTTTATGTGGAAGAAAAGATTGTGGAGCATGCAGAAAAGCAGAGGACACTCAGCAAAAATAAGTA
GCTACCTACTACTGGTGGATTCTTTTCCTTATAGTGAATTTAAAAGTATCATCAAGGGTTTAATATTGGGAAAATTTCTTTTTGCCACAT

>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(transcript)=2931nt_BP=1178nt
GGAGGGGGAGCCGCTCATTCATTTTGACTCCGCGTTTCTGCCCCTCGCCGGCCTCGCCTGTGACCCGGACTTCGGGGCGATCTTGCGAAC
TGCGTCGCGCCCTCCCGCGGCGGAAGCTCGGGCGTCCGGCCGCCTCCCGCGCGGCCAGGGCCGGGCTTGTTTTTCCTCGCCTAGGCAGAT
TTGGGCTTTGCCCCCTTTCTTTGCAGTTTTCCCCCCTTCCTGCCTCTCCGGGTTTGAAAATGGAGGCCGACGACGCCGACAGCCCGCCCC
GGCGCGCCTCGGGTTCCCGACTCCGCCGAGCCCTGGGCCGCTGCTGCCGGCGCTGAGGGGCCGCCCCGCGCCGCCCGCCCCGTCCGCGCA
CCCGGAGGGCCCCGGCGGCGCCGCCTTCGGAGTATTGTTTCCTTCGCCCTTGTTTTTGGAGGGGGAGCGAAGACTGAGTTTGAGACTTGT
TTCCTTTCATTTCCTTTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGAAAGGGGAATTTCATCCCAAATAAAAGGAAT
GAAGTCTGGCTCCGGAGGAGGGTCCCCGACCTCGCTGTGGGGGCTCCTGTTTCTCTCCGCCGCGCTCTCGCTCTGGCCGACGAGTGGAGA
AATCTGCGGGCCAGGCATCGACATCCGCAACGACTATCAGCAGCTGAAGCGCCTGGAGAACTGCACGGTGATCGAGGGCTACCTCCACAT
CCTGCTCATCTCCAAGGCCGAGGACTACCGCAGCTACCGCTTCCCCAAGCTCACGGTCATTACCGAGTACTTGCTGCTGTTCCGAGTGGC
TGGCCTCGAGAGCCTCGGAGACCTCTTCCCCAACCTCACGGTCATCCGCGGCTGGAAACTCTTCTACAACTACGCCCTGGTCATCTTCGA
GATGACCAATCTCAAGGATATTGGGCTTTACAACCTGAGGAACATTACTCGGGGGGCCATCAGGATTGAGAAAAATGCTGACCTCTGTTA
CCTCTCCACTGTGGACTGGTCCCTGATCCTGGATGCGGTGTCCAATAACTACATTGTGGGGAATAAGCCCCCAAAGGAATGTGGGGACCT
GTGTCCAGGGACCATGGAGGAGAAGCCGATGTGTGAGAAGACCACCATCAACAATGAGTACAACTACCGCTGCTGGACCACAAACCGCTG
CCAGAAAAGAATAGGAGGCCTTCAAGATTTTGTGCTGAAATCTGCAACACTGTGTAGCCTGCCATCCTGCCCACCATTTATACCACTCAA
CTTCGAAGCCACTCCTATTGTGAGAGTTGCTGTTGAACCAAAACATCCAAGTGAAATGCCTCAGCTCGTAAAAGGAATGAAACTGTTAAA
CCAGGCTGATCCCTGTGTCCAGATTTTAATTCAGGAAACGGGAGAGCACGTTTTAGTCACAGCAGGAGAAGTCCACCTTCAGCGATGCCT
GGATGACTTAAAAGAAAGGTTTGCAAAGATTCATATCAGTGTATCTGAACCTATTATTCCATTCAGAGAAACAATCACAAAACCCCCAAA
AGTTGACATGGTCAATGAAGAAATAGGCAAACAGCAAAAAGTTGCAGTCATACACCAAATGAAAGAAGATCAAAGCAAAATCCCTGAAGG
AATCCAAGTTGACTCTGACGGGCTAATCACCATAACAACTCCCAATAAACTTGCCACGCTCAGTGTTCGAGCCATGCCCCTTCCAGAAGA
AGTCACCCAGATTCTGGAAGAAAATAGTGATTTGATTCGTTCTATGGAGCAGTTGACATCCTCTTTGAATGAGGGTGAAAATACTCACAT
GATTCATCAGAAGACCCAAGAGAAAATTTGGGAATTCAAAGGAAAACTGGAGCAACACCTAACAGGGAGAAGATGGAGGAACATTGTTGA
CCAAATCTGGTCATTTGGCCCAAGAAAATGTGGGCCCAACATACTAGTCAATAAAAGTGAAGATTTTCAGAACTCAGTATGGACAGGTCC
AGCTGACAAAGCTTCAAAAGAAGCCAGTAGATACCGAGATTTGGGCAATAGCATTGTGAGTGGCTTCCAACTAGCAACCCTCTCTGGCCC
CATGTGTGAGGAGCCTCTCATGGGTGTCTGTTTTGTTCTGGAAAAATGGGACCTAAGTAAATTTGAGGAACAAGGAGCAAGTGATCTGGC
AAAAGAGGGACAGGAGGAAAATGAAACCTGTTCTGGTGGAAATGAAAACCAAGAGCTACAAGATGGCTGCTCTGAGGCCTTTGAGAAGAG
GACATCACAGAAAGGAGAATCTCCACTCACTGACTGCTATGGACCTTTCTCAGGACAGCTAATTGCCACCATGAAAGAAGCATGTCGCTA
TGCACTGCAAGTGAAACCTCAGCGCCTGATGGCAGCTATGTACACATGTGACATCATGGCCACTGGTGATGTTCTCGGTCGAGTCTATGC
TGTCTTGTCAAAGAGAGAAGGTCGGGTACTTCAAGAAGAAATGAAAGAAGGGACAGACATGTTCATCATCAAGGCTGTGCTGCCTGTTGC
TGAAAGCTTTGGTTTTGCTGATGAAATCAGGAAGAGGACAAGTGGCCTGGCCAGCCCACAACTAGTATTCAGCCATTGGGAGATCATTCC
CAGTGACCCCTTCTGGGTGCCAACTACTGAGGAGGAATACTTGCACTTTGGGGAGAAGGCTGACTCTGAGAACCAAGCCCGGAAGTACAT
GAACGCAGTACGAAAGCGGAAGGGGCTTTATGTGGAAGAAAAGATTGTGGAGCATGCAGAAAAGCAGAGGACACTCAGCAAAAATAAGTA
GCTACCTACTACTGGTGGATTCTTTTCCTTATAGTGAATTTAAAAGTATCATCAAGGGTTTAATATTGGGAAAATTTCTTTTTGCCACAT

>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

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

Top

Fusion Gene PPI Analysis for IGF1R-EFTUD1


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 IGF1R-EFTUD1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneIGF1RP08069DB00046Insulin lisproBiotechApproved
HgeneIGF1RP08069DB00047Insulin glargineBiotechApproved
HgeneIGF1RP08069DB00071Insulin porkBiotechApproved
HgeneIGF1RP08069DB01306Insulin aspartBiotechApproved
HgeneIGF1RP08069DB01307Insulin detemirBiotechApproved
HgeneIGF1RP08069DB01309Insulin glulisineBiotechApproved
HgeneIGF1RP08069DB09564Insulin degludecBiotechApproved
HgeneIGF1RP08069DB14751Mecasermin rinfabateAgonistBiotechApproved
HgeneIGF1RP08069DB00030Insulin humanBiotechApproved|Investigational
HgeneIGF1RP08069DB01277MecaserminAgonistBiotechApproved|Investigational
HgeneIGF1RP08069DB06343TeprotumumabInhibitorBiotechApproved|Investigational
HgeneIGF1RP08069DB12267BrigatinibInhibitorSmall moleculeApproved|Investigational
HgeneIGF1RP08069DB09098SomatremBiotechApproved|Investigational|Withdrawn

Top

Related Diseases for IGF1R-EFTUD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneIGF1RC1849157Resistance to Insulin-Like Growth Factor I5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneIGF1RC0004238Atrial Fibrillation2CTD_human
HgeneIGF1RC0024115Lung diseases2CTD_human
HgeneIGF1RC0235480Paroxysmal atrial fibrillation2CTD_human
HgeneIGF1RC0235833Congenital diaphragmatic hernia2CTD_human
HgeneIGF1RC0265699Congenital hernia of foramen of Morgagni2CTD_human
HgeneIGF1RC0265700Congenital hernia of foramen of Bochdalek2CTD_human
HgeneIGF1RC2239176Liver carcinoma2CTD_human
HgeneIGF1RC2585653Persistent atrial fibrillation2CTD_human
HgeneIGF1RC3468561familial atrial fibrillation2CTD_human
HgeneIGF1RC0002395Alzheimer's Disease1CTD_human
HgeneIGF1RC0006142Malignant neoplasm of breast1CTD_human
HgeneIGF1RC0007114Malignant neoplasm of skin1CTD_human
HgeneIGF1RC0007621Neoplastic Cell Transformation1CTD_human
HgeneIGF1RC0011265Presenile dementia1CTD_human
HgeneIGF1RC0014170Endometrial Neoplasms1CTD_human
HgeneIGF1RC0015934Fetal Growth Retardation1CTD_human
HgeneIGF1RC0018273Growth Disorders1CTD_human
HgeneIGF1RC0030567Parkinson Disease1CTD_human
HgeneIGF1RC0035229Respiratory Insufficiency1CTD_human
HgeneIGF1RC0037286Skin Neoplasms1CTD_human
HgeneIGF1RC0087031Juvenile-Onset Still Disease1CTD_human
HgeneIGF1RC0206686Adrenocortical carcinoma1CTD_human
HgeneIGF1RC0235063Respiratory Depression1CTD_human
HgeneIGF1RC0276496Familial Alzheimer Disease (FAD)1CTD_human
HgeneIGF1RC0424605Developmental delay (disorder)1GENOMICS_ENGLAND
HgeneIGF1RC0476089Endometrial Carcinoma1CTD_human
HgeneIGF1RC0494463Alzheimer Disease, Late Onset1CTD_human
HgeneIGF1RC0546126Acute Confusional Senile Dementia1CTD_human
HgeneIGF1RC0557874Global developmental delay1GENOMICS_ENGLAND
HgeneIGF1RC0678222Breast Carcinoma1CTD_human
HgeneIGF1RC0750900Alzheimer's Disease, Focal Onset1CTD_human
HgeneIGF1RC0750901Alzheimer Disease, Early Onset1CTD_human
HgeneIGF1RC0752347Lewy Body Disease1CTD_human
HgeneIGF1RC1145670Respiratory Failure1CTD_human
HgeneIGF1RC1257931Mammary Neoplasms, Human1CTD_human
HgeneIGF1RC1458155Mammary Neoplasms1CTD_human
HgeneIGF1RC3495559Juvenile arthritis1CTD_human
HgeneIGF1RC3714758Juvenile psoriatic arthritis1CTD_human
HgeneIGF1RC4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
HgeneIGF1RC4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human
HgeneIGF1RC4704874Mammary Carcinoma, Human1CTD_human
HgeneIGF1RC4721453Peripheral Nervous System Diseases1CTD_human
TgeneC4693704SHWACHMAN-DIAMOND SYNDROME 22GENOMICS_ENGLAND;UNIPROT
TgeneC0272170Shwachman syndrome1ORPHANET