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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:EMILIN2-SOD1 (FusionGDB2 ID:HG84034TG6647)

Fusion Gene Summary for EMILIN2-SOD1

check button Fusion gene summary
Fusion gene informationFusion gene name: EMILIN2-SOD1
Fusion gene ID: hg84034tg6647
HgeneTgene
Gene symbol

EMILIN2

SOD1

Gene ID

84034

6647

Gene nameelastin microfibril interfacer 2superoxide dismutase 1
SynonymsEMILIN-2|FOAP-10ALS|ALS1|HEL-S-44|IPOA|SOD|STAHP|hSod1|homodimer
Cytomap('EMILIN2')('SOD1')

18p11.32-p11.31

21q22.11

Type of geneprotein-codingprotein-coding
DescriptionEMILIN-2elastin microfibril interface-located protein 2extracellular glycoprotein EMILIN-2superoxide dismutase [Cu-Zn]Cu/Zn superoxide dismutaseSOD, solubleepididymis secretory protein Li 44indophenoloxidase Asuperoxide dismutase 1, solublesuperoxide dismutase, cystolic
Modification date2020031320200322
UniProtAcc

Q9BXX0

.
Ensembl transtripts involved in fusion geneENST00000254528, ENST00000308080, 
Fusion gene scores* DoF score9 X 7 X 3=1896 X 6 X 2=72
# samples 96
** MAII scorelog2(9/189*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EMILIN2 [Title/Abstract] AND SOD1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEMILIN2(2877455)-SOD1(33040996), # 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
TgeneSOD1

GO:0000303

response to superoxide

16790527

TgeneSOD1

GO:0001819

positive regulation of cytokine production

15544046

TgeneSOD1

GO:0006801

superoxide metabolic process

12551919

TgeneSOD1

GO:0010033

response to organic substance

12921788

TgeneSOD1

GO:0032930

positive regulation of superoxide anion generation

18219391

TgeneSOD1

GO:0043085

positive regulation of catalytic activity

17324120

TgeneSOD1

GO:0043087

regulation of GTPase activity

18219391

TgeneSOD1

GO:0045541

negative regulation of cholesterol biosynthetic process

15473258

TgeneSOD1

GO:0045859

regulation of protein kinase activity

16254550

TgeneSOD1

GO:0050665

hydrogen peroxide biosynthetic process

15544046

TgeneSOD1

GO:0060047

heart contraction

9539776

TgeneSOD1

GO:0072593

reactive oxygen species metabolic process

24140062



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


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Fusion Gene ORF analysis for EMILIN2-SOD1

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

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 EMILIN2-SOD1


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 EMILIN2-SOD1


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/:2877455/:33040996)
- 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
EMILIN2

Q9BXX0

.
FUNCTION: May be responsible for anchoring smooth muscle cells to elastic fibers, and may be involved not only in the formation of the elastic fiber, but also in the processes that regulate vessel assembly. Has cell adhesive capacity.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


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Fusion Gene Sequence for EMILIN2-SOD1


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 EMILIN2-SOD1


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 EMILIN2-SOD1


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 EMILIN2-SOD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC1862939AMYOTROPHIC LATERAL SCLEROSIS 167CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0002736Amyotrophic Lateral Sclerosis28CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0393554Amyotrophic Lateral Sclerosis With Dementia25CTD_human
TgeneC0543859Amyotrophic Lateral Sclerosis, Guam Form25CTD_human
TgeneC1862941Amyotrophic Lateral Sclerosis, Sporadic19CTD_human
TgeneC4551993Amyotrophic Lateral Sclerosis, Familial19CTD_human
TgeneC0007787Transient Ischemic Attack4CTD_human
TgeneC0035126Reperfusion Injury4CTD_human
TgeneC0472381Posterior Circulation Transient Ischemic Attack4CTD_human
TgeneC0751019Carotid Circulation Transient Ischemic Attack4CTD_human
TgeneC0751020Transient Ischemic Attack, Vertebrobasilar Circulation4CTD_human
TgeneC0751021Crescendo Transient Ischemic Attacks4CTD_human
TgeneC0751022Brain Stem Ischemia, Transient4CTD_human
TgeneC0917805Transient Cerebral Ischemia4CTD_human
TgeneC1527335Transient Ischemic Attack, Anterior Circulation4CTD_human
TgeneC0011581Depressive disorder3CTD_human;PSYGENET
TgeneC0027746Nerve Degeneration3CTD_human
TgeneC0030567Parkinson Disease3CTD_human
TgeneC0007621Neoplastic Cell Transformation2CTD_human
TgeneC0011570Mental Depression2PSYGENET
TgeneC0019193Hepatitis, Toxic2CTD_human
TgeneC0020538Hypertensive disease2CTD_human
TgeneC0035304Retinal Degeneration2CTD_human
TgeneC0860207Drug-Induced Liver Disease2CTD_human
TgeneC1262760Hepatitis, Drug-Induced2CTD_human
TgeneC3658290Drug-Induced Acute Liver Injury2CTD_human
TgeneC4277682Chemical and Drug Induced Liver Injury2CTD_human
TgeneC4279912Chemically-Induced Liver Toxicity2CTD_human
TgeneC0002152Alloxan Diabetes1CTD_human
TgeneC0003493Aortic Diseases1CTD_human
TgeneC0004045Asphyxia Neonatorum1CTD_human
TgeneC0004096Asthma1CTD_human
TgeneC0004153Atherosclerosis1CTD_human
TgeneC0007786Brain Ischemia1CTD_human
TgeneC0011573Endogenous depression1CTD_human
TgeneC0011616Contact Dermatitis1CTD_human
TgeneC0011849Diabetes Mellitus1CTD_human
TgeneC0011853Diabetes Mellitus, Experimental1CTD_human
TgeneC0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneC0011884Diabetic Retinopathy1CTD_human
TgeneC0013080Down Syndrome1CTD_human
TgeneC0013221Drug toxicity1CTD_human
TgeneC0015695Fatty Liver1CTD_human
TgeneC0015696Fatty Liver, Alcoholic1CTD_human
TgeneC0015934Fetal Growth Retardation1CTD_human
TgeneC0017638Glioma1CTD_human
TgeneC0018801Heart failure1CTD_human
TgeneC0018802Congestive heart failure1CTD_human
TgeneC0019054Hemolysis (disorder)1CTD_human
TgeneC0019189Hepatitis, Chronic1CTD_human
TgeneC0020550Hyperthyroidism1CTD_human
TgeneC0020649Hypotension1CTD_human
TgeneC0020672Hypothermia, natural1CTD_human
TgeneC0021368Inflammation1CTD_human
TgeneC0022116Ischemia1CTD_human
TgeneC0022650Kidney Calculi1CTD_human
TgeneC0022660Kidney Failure, Acute1CTD_human
TgeneC0023212Left-Sided Heart Failure1CTD_human
TgeneC0023895Liver diseases1CTD_human
TgeneC0024796Marfan Syndrome1CTD_human
TgeneC0025193Melancholia1CTD_human
TgeneC0025312Meningomyelocele1CTD_human
TgeneC0026846Muscular Atrophy1CTD_human
TgeneC0027051Myocardial Infarction1CTD_human
TgeneC0027540Necrosis1CTD_human
TgeneC0027720Nephrosis1CTD_human
TgeneC0027765nervous system disorder1CTD_human
TgeneC0028754Obesity1CTD_human
TgeneC0033626Protein Deficiency1CTD_human
TgeneC0033687Proteinuria1CTD_human
TgeneC0034069Pulmonary Fibrosis1CTD_human
TgeneC0036330Schistosomiasis mansoni1CTD_human
TgeneC0036457Scrapie1CTD_human
TgeneC0038433Streptozotocin Diabetes1CTD_human
TgeneC0038454Cerebrovascular accident1CTD_human
TgeneC0041408Turner Syndrome1CTD_human
TgeneC0041696Unipolar Depression1CTD_human
TgeneC0041755Adverse reaction to drug1CTD_human
TgeneC0085084Motor Neuron Disease1CTD_human
TgeneC0086133Depressive Syndrome1CTD_human
TgeneC0086565Liver Dysfunction1CTD_human
TgeneC0086664Myelocele1CTD_human
TgeneC0149519Chronic Persistent Hepatitis1CTD_human
TgeneC0154681Anterior Horn Cell Disease1CTD_human
TgeneC0154682Lateral Sclerosis1CTD_human
TgeneC0162316Iron deficiency anemia1CTD_human
TgeneC0162351Contact hypersensitivity1CTD_human
TgeneC0162671MELAS Syndrome1CTD_human
TgeneC0162674Chronic progressive external ophthalmoplegia1CTD_human
TgeneC0231686Gait, Unsteady1CTD_human
TgeneC0231687Spastic gait1CTD_human
TgeneC0231688Gait, Shuffling1CTD_human
TgeneC0231689Gait, Athetotic1CTD_human
TgeneC0231693Charcot Gait1CTD_human
TgeneC0231694Gait, Festinating1CTD_human
TgeneC0231695Cerebellar ataxic gait1CTD_human
TgeneC0231696Gait, Hemiplegic1CTD_human
TgeneC0231698Gait, Scissors1CTD_human
TgeneC0231712Waddling gait1CTD_human
TgeneC0234996Gait, Rigid1CTD_human
TgeneC0235000Gait, Broadened1CTD_human
TgeneC0235527Heart Failure, Right-Sided1CTD_human
TgeneC0235574Intravascular hemolysis1CTD_human
TgeneC0242497Intestinal schistosomiasis1CTD_human
TgeneC0242526Gonadal Dysgenesis, 45,X1CTD_human
TgeneC0259783mixed gliomas1CTD_human
TgeneC0270763Familial Motor Neuron Disease1CTD_human
TgeneC0270764Motor Neuron Disease, Lower1CTD_human
TgeneC0270948Neurogenic Muscular Atrophy1CTD_human
TgeneC0282126Depression, Neurotic1CTD_human
TgeneC0312854Extravascular Hemolysis1CTD_human
TgeneC0337210Gait, Stumbling1CTD_human
TgeneC0427128Rapid Fatigue of Gait1CTD_human
TgeneC0427149Gait, Drop Foot1CTD_human
TgeneC0427169Marche a Petit Pas1CTD_human
TgeneC0427177Gait, Hysterical1CTD_human
TgeneC0432416Down Syndrome, Partial Trisomy 211CTD_human
TgeneC0432417Trisomy 21, Meiotic Nondisjunction1CTD_human
TgeneC0520463Chronic active hepatitis1CTD_human
TgeneC0521659Motor Neuron Disease, Upper1CTD_human
TgeneC0524611Cryptogenic Chronic Hepatitis1CTD_human
TgeneC0543858Motor Neuron Disease, Secondary1CTD_human
TgeneC0555198Malignant Glioma1CTD_human
TgeneC0751081Trisomy 21, Mitotic Nondisjunction1CTD_human
TgeneC0751316Acquired Meningomyelocele1CTD_human
TgeneC0751829Gait Disorder, Sensorimotor1CTD_human
TgeneC0751830Gait Disorders, Neurologic1CTD_human
TgeneC0751831Gait, Frontal1CTD_human
TgeneC0751832Gait, Widebased1CTD_human
TgeneC0751956Acute Cerebrovascular Accidents1CTD_human
TgeneC0917798Cerebral Ischemia1CTD_human
TgeneC0919267ovarian neoplasm1CTD_human
TgeneC1140680Malignant neoplasm of ovary1CTD_human
TgeneC1262477Weight decreased1CTD_human
TgeneC1384666hearing impairment1CTD_human
TgeneC1456865Ureteral Calculi1CTD_human
TgeneC1527168Bonnevie-Ullrich Syndrome1CTD_human
TgeneC1563937Atherogenesis1CTD_human
TgeneC1565662Acute Kidney Insufficiency1CTD_human
TgeneC1959583Myocardial Failure1CTD_human
TgeneC1961112Heart Decompensation1CTD_human
TgeneC2609414Acute kidney injury1CTD_human
TgeneC2711227Steatohepatitis1CTD_human
TgeneC2718067Alcoholic Steatohepatitis1CTD_human
TgeneC3714618Primary Hyperthyroidism1CTD_human
TgeneC4721507Alveolitis, Fibrosing1CTD_human
TgeneC4721845Marfan Syndrome, Type I1CTD_human