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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:IGF2-QRSL1 (FusionGDB2 ID:38343)

Fusion Gene Summary for IGF2-QRSL1

check button Fusion gene summary
Fusion gene informationFusion gene name: IGF2-QRSL1
Fusion gene ID: 38343
HgeneTgene
Gene symbol

IGF2

QRSL1

Gene ID

3481

55278

Gene nameinsulin like growth factor 2glutaminyl-tRNA amidotransferase subunit QRSL1
SynonymsC11orf43|GRDF|IGF-II|PP9974GatA
Cytomap

11p15.5

6q21

Type of geneprotein-codingprotein-coding
Descriptioninsulin-like growth factor IIT3M-11-derived growth factorinsulin-like growth factor 2 (somatomedin A)insulin-like growth factor type 2preptinglutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrialQRSL1, glutaminyl-tRNA amidotransferase subunit Aglu-AdT subunit Aglutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1glutaminyl-tRNA synthase-like protein 1glutamyl-tRNA(Gln) amidotransf
Modification date2020032220200313
UniProtAcc

P01344

.
Ensembl transtripts involved in fusion geneENST00000381395, ENST00000381406, 
ENST00000416167, ENST00000300632, 
ENST00000434045, ENST00000381392, 
ENST00000381389, ENST00000418738, 
ENST00000369046, ENST00000467262, 
ENST00000369044, 
Fusion gene scores* DoF score11 X 6 X 8=5289 X 9 X 5=405
# samples 1213
** MAII scorelog2(12/528*10)=-2.13750352374993
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/405*10)=-1.63941028474353
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: IGF2 [Title/Abstract] AND QRSL1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointIGF2(2162177)-QRSL1(107110855), # 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
HgeneIGF2

GO:0008284

positive regulation of cell proliferation

28873464

HgeneIGF2

GO:0042104

positive regulation of activated T cell proliferation

15694994

HgeneIGF2

GO:0043410

positive regulation of MAPK cascade

11500939

HgeneIGF2

GO:0045840

positive regulation of mitotic nuclear division

11500939

HgeneIGF2

GO:0046628

positive regulation of insulin receptor signaling pathway

11500939

HgeneIGF2

GO:0051897

positive regulation of protein kinase B signaling

11500939

TgeneQRSL1

GO:0070681

glutaminyl-tRNAGln biosynthesis via transamidation

19805282


check buttonFusion gene breakpoints across IGF2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across QRSL1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-VQ-A8DU-01AIGF2chr11

2162177

+QRSL1chr6

107110855

+


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Fusion Gene ORF analysis for IGF2-QRSL1

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-3CDSENST00000381395ENST00000369046IGF2chr11

2162177

+QRSL1chr6

107110855

+
intron-intronENST00000381395ENST00000467262IGF2chr11

2162177

+QRSL1chr6

107110855

+
intron-intronENST00000381395ENST00000369044IGF2chr11

2162177

+QRSL1chr6

107110855

+
intron-3CDSENST00000381406ENST00000369046IGF2chr11

2162177

+QRSL1chr6

107110855

+
intron-intronENST00000381406ENST00000467262IGF2chr11

2162177

+QRSL1chr6

107110855

+
intron-intronENST00000381406ENST00000369044IGF2chr11

2162177

+QRSL1chr6

107110855

+
intron-3CDSENST00000416167ENST00000369046IGF2chr11

2162177

+QRSL1chr6

107110855

+
intron-intronENST00000416167ENST00000467262IGF2chr11

2162177

+QRSL1chr6

107110855

+
intron-intronENST00000416167ENST00000369044IGF2chr11

2162177

+QRSL1chr6

107110855

+
intron-3CDSENST00000300632ENST00000369046IGF2chr11

2162177

+QRSL1chr6

107110855

+
intron-intronENST00000300632ENST00000467262IGF2chr11

2162177

+QRSL1chr6

107110855

+
intron-intronENST00000300632ENST00000369044IGF2chr11

2162177

+QRSL1chr6

107110855

+
intron-3CDSENST00000434045ENST00000369046IGF2chr11

2162177

+QRSL1chr6

107110855

+
intron-intronENST00000434045ENST00000467262IGF2chr11

2162177

+QRSL1chr6

107110855

+
intron-intronENST00000434045ENST00000369044IGF2chr11

2162177

+QRSL1chr6

107110855

+
intron-3CDSENST00000381392ENST00000369046IGF2chr11

2162177

+QRSL1chr6

107110855

+
intron-intronENST00000381392ENST00000467262IGF2chr11

2162177

+QRSL1chr6

107110855

+
intron-intronENST00000381392ENST00000369044IGF2chr11

2162177

+QRSL1chr6

107110855

+
intron-3CDSENST00000381389ENST00000369046IGF2chr11

2162177

+QRSL1chr6

107110855

+
intron-intronENST00000381389ENST00000467262IGF2chr11

2162177

+QRSL1chr6

107110855

+
intron-intronENST00000381389ENST00000369044IGF2chr11

2162177

+QRSL1chr6

107110855

+
intron-3CDSENST00000418738ENST00000369046IGF2chr11

2162177

+QRSL1chr6

107110855

+
intron-intronENST00000418738ENST00000467262IGF2chr11

2162177

+QRSL1chr6

107110855

+
intron-intronENST00000418738ENST00000369044IGF2chr11

2162177

+QRSL1chr6

107110855

+

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 IGF2-QRSL1


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.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for IGF2-QRSL1


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
IGF2

P01344

.
FUNCTION: The insulin-like growth factors possess growth-promoting activity (By similarity). Major fetal growth hormone in mammals. Plays a key role in regulating fetoplacental development. IGF2 is influenced by placental lactogen. Also involved in tissue differentiation. In adults, involved in glucose metabolism in adipose tissue, skeletal muscle and liver (Probable). Acts as a ligand for integrin which is required for IGF2 signaling (PubMed:28873464). Positively regulates myogenic transcription factor MYOD1 function by facilitating the recruitment of transcriptional coactivators, thereby controlling muscle terminal differentiation (By similarity). Inhibits myoblast differentiation and modulates metabolism via increasing the mitochondrial respiration rate (By similarity). {ECO:0000250|UniProtKB:P09535, ECO:0000269|PubMed:28873464, ECO:0000305|PubMed:24593700}.; FUNCTION: Preptin undergoes glucose-mediated co-secretion with insulin, and acts as physiological amplifier of glucose-mediated insulin secretion. Exhibits osteogenic properties by increasing osteoblast mitogenic activity through phosphoactivation of MAPK1 and MAPK3. {ECO:0000269|PubMed:16912056}.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.

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 IGF2-QRSL1


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 IGF2-QRSL1


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 IGF2-QRSL1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for IGF2-QRSL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneIGF2C0004903Beckwith-Wiedemann Syndrome4CTD_human;GENOMICS_ENGLAND
HgeneIGF2C0015934Fetal Growth Retardation3CTD_human;GENOMICS_ENGLAND
HgeneIGF2C0036341Schizophrenia2PSYGENET
HgeneIGF2C0175693Russell-Silver syndrome2CTD_human;GENOMICS_ENGLAND
HgeneIGF2C0206686Adrenocortical carcinoma2CTD_human
HgeneIGF2C2239176Liver carcinoma2CTD_human
HgeneIGF2C0000786Spontaneous abortion1CTD_human
HgeneIGF2C0000822Abortion, Tubal1CTD_human
HgeneIGF2C0002395Alzheimer's Disease1CTD_human
HgeneIGF2C0002871Anemia1CTD_human
HgeneIGF2C0004153Atherosclerosis1CTD_human
HgeneIGF2C0004352Autistic Disorder1CTD_human
HgeneIGF2C0005941Bone Diseases, Developmental1CTD_human
HgeneIGF2C0007102Malignant tumor of colon1CTD_human
HgeneIGF2C0009241Cognition Disorders1CTD_human
HgeneIGF2C0009375Colonic Neoplasms1CTD_human
HgeneIGF2C0009402Colorectal Carcinoma1CTD_human
HgeneIGF2C0009404Colorectal Neoplasms1CTD_human
HgeneIGF2C0011265Presenile dementia1CTD_human
HgeneIGF2C0018273Growth Disorders1CTD_human
HgeneIGF2C0019284Diaphragmatic Hernia1CTD_human
HgeneIGF2C0020224Polyhydramnios1CTD_human
HgeneIGF2C0020615Hypoglycemia1CTD_human
HgeneIGF2C0023903Liver neoplasms1CTD_human
HgeneIGF2C0025261Memory Disorders1CTD_human
HgeneIGF2C0027708Nephroblastoma1CTD_human
HgeneIGF2C0027746Nerve Degeneration1CTD_human
HgeneIGF2C0028754Obesity1CTD_human
HgeneIGF2C0030567Parkinson Disease1CTD_human
HgeneIGF2C0032045Placenta Disorders1CTD_human
HgeneIGF2C0032927Precancerous Conditions1CTD_human
HgeneIGF2C0035412Rhabdomyosarcoma1CTD_human
HgeneIGF2C0206624Hepatoblastoma1CTD_human
HgeneIGF2C0233794Memory impairment1CTD_human
HgeneIGF2C0271708Fasting Hypoglycemia1CTD_human
HgeneIGF2C0271710Reactive hypoglycemia1CTD_human
HgeneIGF2C0276496Familial Alzheimer Disease (FAD)1CTD_human
HgeneIGF2C0282313Condition, Preneoplastic1CTD_human
HgeneIGF2C0332890Congenital hemihypertrophy1ORPHANET
HgeneIGF2C0345904Malignant neoplasm of liver1CTD_human
HgeneIGF2C0473935Radiolabeled somatostatin analog study1GENOMICS_ENGLAND
HgeneIGF2C0494463Alzheimer Disease, Late Onset1CTD_human
HgeneIGF2C0546126Acute Confusional Senile Dementia1CTD_human
HgeneIGF2C0678807prenatal alcohol exposure1PSYGENET
HgeneIGF2C0750900Alzheimer's Disease, Focal Onset1CTD_human
HgeneIGF2C0750901Alzheimer Disease, Early Onset1CTD_human
HgeneIGF2C0751292Age-Related Memory Disorders1CTD_human
HgeneIGF2C0751293Memory Disorder, Semantic1CTD_human
HgeneIGF2C0751294Memory Disorder, Spatial1CTD_human
HgeneIGF2C0751295Memory Loss1CTD_human
HgeneIGF2C0752347Lewy Body Disease1CTD_human
HgeneIGF2C0796160MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE1GENOMICS_ENGLAND
HgeneIGF2C1563937Atherogenesis1CTD_human
HgeneIGF2C1855652Fetus Small for Gestational Age1GENOMICS_ENGLAND
HgeneIGF2C1856184HEMIHYPERPLASIA, ISOLATED1ORPHANET
HgeneIGF2C2930471Bilateral Wilms Tumor1CTD_human
HgeneIGF2C3830362Early Pregnancy Loss1CTD_human
HgeneIGF2C4225307GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES1CTD_human;GENOMICS_ENGLAND
HgeneIGF2C4552766Miscarriage1CTD_human
TgeneQRSL1C3532239Mitochondrial cardiomyopathy1GENOMICS_ENGLAND