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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:NOS2-AATF (FusionGDB2 ID:HG4843TG26574)

Fusion Gene Summary for NOS2-AATF

check button Fusion gene summary
Fusion gene informationFusion gene name: NOS2-AATF
Fusion gene ID: hg4843tg26574
HgeneTgene
Gene symbol

NOS2

AATF

Gene ID

4843

26574

Gene namenitric oxide synthase 2apoptosis antagonizing transcription factor
SynonymsHEP-NOS|INOS|NOS|NOS2ABFR2|CHE-1|CHE1|DED
Cytomap('NOS2')('AATF')

17q11.2

17q12

Type of geneprotein-codingprotein-coding
Descriptionnitric oxide synthase, inducibleNOS, type IIhepatocyte NOSinducible NO synthaseinducible NOSnitric oxide synthase 2, induciblenitric oxide synthase 2A (inducible, hepatocytes)nitric oxide synthase, macrophagepeptidyl-cysteine S-nitrosylase NOS2protein AATFrb-binding protein Che-1
Modification date2020031420200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000313735, 
Fusion gene scores* DoF score3 X 5 X 3=4526 X 13 X 11=3718
# samples 528
** MAII scorelog2(5/45*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(28/3718*10)=-3.73102803797452
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NOS2 [Title/Abstract] AND AATF [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNOS2(26107793)-AATF(35413901), # samples:2
Anticipated loss of major functional domain due to fusion event.NOS2-AATF seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
NOS2-AATF seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted 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
HgeneNOS2

GO:0006527

arginine catabolic process

7504305

HgeneNOS2

GO:0006809

nitric oxide biosynthetic process

7504305|7682706

HgeneNOS2

GO:0032310

prostaglandin secretion

19688109

HgeneNOS2

GO:0072604

interleukin-6 secretion

19688109

HgeneNOS2

GO:0072606

interleukin-8 secretion

19688109

HgeneNOS2

GO:1900015

regulation of cytokine production involved in inflammatory response

19688109

TgeneAATF

GO:0032929

negative regulation of superoxide anion generation

15207272

TgeneAATF

GO:0045944

positive regulation of transcription by RNA polymerase II

18049476

TgeneAATF

GO:2000378

negative regulation of reactive oxygen species metabolic process

15207272



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
ChimerDB4OVTCGA-20-1686-01ANOS2chr17

26107793

-AATFchr17

35413901

+
ChimerDB4OVTCGA-20-1686NOS2chr17

26107792

-AATFchr17

35413900

+


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Fusion Gene ORF analysis for NOS2-AATF

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-3UTRENST00000313735ENST00000590321NOS2chr17

26107793

-AATFchr17

35413901

+
5CDS-3UTRENST00000313735ENST00000590321NOS2chr17

26107792

-AATFchr17

35413900

+
Frame-shiftENST00000313735ENST00000225402NOS2chr17

26107793

-AATFchr17

35413901

+
Frame-shiftENST00000313735ENST00000225402NOS2chr17

26107792

-AATFchr17

35413900

+

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 NOS2-AATF


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)
NOS2chr1726107792-AATFchr1735413900+1.09E-070.9999999
NOS2chr1726107792-AATFchr1735413900+1.09E-070.9999999
NOS2chr1726107792-AATFchr1735413900+1.09E-070.9999999
NOS2chr1726107792-AATFchr1735413900+1.09E-070.9999999


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.
genomic feature of top 1%

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Fusion Protein Features for NOS2-AATF


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/:26107793/:35413901)
- 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
..
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}.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 NOS2-AATF


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 NOS2-AATF


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 NOS2-AATF


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 NOS2-AATF


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNOS2C0011570Mental Depression5PSYGENET
HgeneNOS2C0011581Depressive disorder5PSYGENET
HgeneNOS2C0027055Myocardial Reperfusion Injury5CTD_human
HgeneNOS2C0035126Reperfusion Injury4CTD_human
HgeneNOS2C0020538Hypertensive disease3CTD_human
HgeneNOS2C0038358Gastric ulcer3CTD_human
HgeneNOS2C0002152Alloxan Diabetes2CTD_human
HgeneNOS2C0007102Malignant tumor of colon2CTD_human
HgeneNOS2C0007786Brain Ischemia2CTD_human
HgeneNOS2C0008370Cholestasis2CTD_human
HgeneNOS2C0009319Colitis2CTD_human
HgeneNOS2C0009375Colonic Neoplasms2CTD_human
HgeneNOS2C0010474Curling Ulcer2CTD_human
HgeneNOS2C0011853Diabetes Mellitus, Experimental2CTD_human
HgeneNOS2C0013295Duodenal Ulcer2CTD_human
HgeneNOS2C0020429Hyperalgesia2CTD_human
HgeneNOS2C0021368Inflammation2CTD_human
HgeneNOS2C0024121Lung Neoplasms2CTD_human
HgeneNOS2C0027051Myocardial Infarction2CTD_human
HgeneNOS2C0027540Necrosis2CTD_human
HgeneNOS2C0034189Pyemia2CTD_human
HgeneNOS2C0036690Septicemia2CTD_human
HgeneNOS2C0038433Streptozotocin Diabetes2CTD_human
HgeneNOS2C0242379Malignant neoplasm of lung2CTD_human
HgeneNOS2C0243026Sepsis2CTD_human
HgeneNOS2C0458247Allodynia2CTD_human
HgeneNOS2C0677050Manganese Poisoning2CTD_human
HgeneNOS2C0751211Hyperalgesia, Primary2CTD_human
HgeneNOS2C0751212Hyperalgesia, Secondary2CTD_human
HgeneNOS2C0751213Tactile Allodynia2CTD_human
HgeneNOS2C0751214Hyperalgesia, Thermal2CTD_human
HgeneNOS2C0917798Cerebral Ischemia2CTD_human
HgeneNOS2C1719672Severe Sepsis2CTD_human
HgeneNOS2C2936719Mechanical Allodynia2CTD_human
HgeneNOS2C0003510Aortitis Syndrome1CTD_human
HgeneNOS2C0003872Arthritis, Psoriatic1CTD_human
HgeneNOS2C0003949Asbestosis1CTD_human
HgeneNOS2C0004096Asthma1CTD_human
HgeneNOS2C0004153Atherosclerosis1CTD_human
HgeneNOS2C0004352Autistic Disorder1CTD_human
HgeneNOS2C0005398Cholestasis, Extrahepatic1CTD_human
HgeneNOS2C0006114Cerebral Edema1CTD_human
HgeneNOS2C0006142Malignant neoplasm of breast1CTD_human;UNIPROT
HgeneNOS2C0006261Bronchial Diseases1CTD_human
HgeneNOS2C0007621Neoplastic Cell Transformation1CTD_human
HgeneNOS2C0008312Primary biliary cirrhosis1CTD_human
HgeneNOS2C0008313Cholangitis, Sclerosing1CTD_human
HgeneNOS2C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
HgeneNOS2C0013990Pathological accumulation of air in tissues1CTD_human
HgeneNOS2C0014476Eperythrozoonosis1CTD_human
HgeneNOS2C0014518Toxic Epidermal Necrolysis1CTD_human
HgeneNOS2C0014859Esophageal Neoplasms1CTD_human
HgeneNOS2C0017668Focal glomerulosclerosis1CTD_human
HgeneNOS2C0018801Heart failure1CTD_human
HgeneNOS2C0018802Congestive heart failure1CTD_human
HgeneNOS2C0019209Hepatomegaly1CTD_human
HgeneNOS2C0020452Hyperemia1CTD_human
HgeneNOS2C0020672Hypothermia, natural1CTD_human
HgeneNOS2C0021831Intestinal Diseases1CTD_human
HgeneNOS2C0022333Jacksonian Seizure1CTD_human
HgeneNOS2C0022658Kidney Diseases1CTD_human
HgeneNOS2C0022660Kidney Failure, Acute1CTD_human
HgeneNOS2C0023212Left-Sided Heart Failure1CTD_human
HgeneNOS2C0023892Biliary cirrhosis1CTD_human
HgeneNOS2C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneNOS2C0023895Liver diseases1CTD_human
HgeneNOS2C0024117Chronic Obstructive Airway Disease1CTD_human
HgeneNOS2C0024796Marfan Syndrome1CTD_human
HgeneNOS2C0026936Mycoplasma Infections1CTD_human
HgeneNOS2C0030246Pustulosis of Palms and Soles1CTD_human
HgeneNOS2C0030569Secondary Parkinson Disease1CTD_human
HgeneNOS2C0032290Aspiration Pneumonia1CTD_human
HgeneNOS2C0033860Psoriasis1CTD_human
HgeneNOS2C0035309Retinal Diseases1CTD_human
HgeneNOS2C0036330Schistosomiasis mansoni1CTD_human
HgeneNOS2C0036572Seizures1CTD_human
HgeneNOS2C0036981Endotoxic shock1CTD_human
HgeneNOS2C0036983Septic Shock1CTD_human
HgeneNOS2C0037116Silicosis1CTD_human
HgeneNOS2C0038220Status Epilepticus1CTD_human
HgeneNOS2C0038325Stevens-Johnson Syndrome1CTD_human
HgeneNOS2C0038454Cerebrovascular accident1CTD_human
HgeneNOS2C0038525Subarachnoid Hemorrhage1CTD_human
HgeneNOS2C0038587Substance Withdrawal Syndrome1CTD_human
HgeneNOS2C0039263Takayasu Arteritis1CTD_human
HgeneNOS2C0041408Turner Syndrome1CTD_human
HgeneNOS2C0041956Ureteral obstruction1CTD_human
HgeneNOS2C0042029Urinary tract infection1CTD_human
HgeneNOS2C0042484Venous Engorgement1CTD_human
HgeneNOS2C0085740Mendelson Syndrome1CTD_human
HgeneNOS2C0086189Drug Withdrawal Symptoms1CTD_human
HgeneNOS2C0086432Hyalinosis, Segmental Glomerular1CTD_human
HgeneNOS2C0086565Liver Dysfunction1CTD_human
HgeneNOS2C0087169Withdrawal Symptoms1CTD_human
HgeneNOS2C0149958Complex partial seizures1CTD_human
HgeneNOS2C0178540Cerebral Hypoxia-Ischemia1CTD_human
HgeneNOS2C0178824Reactive Hyperemia1CTD_human
HgeneNOS2C0206145Stunned Myocardium1CTD_human
HgeneNOS2C0206146Myocardial Stunning1CTD_human
HgeneNOS2C0206698Cholangiocarcinoma1CTD_human
HgeneNOS2C0234533Generalized seizures1CTD_human
HgeneNOS2C0234535Clonic Seizures1CTD_human
HgeneNOS2C0235527Heart Failure, Right-Sided1CTD_human
HgeneNOS2C0238065Secondary Biliary Cholangitis1CTD_human
HgeneNOS2C0242497Intestinal schistosomiasis1CTD_human
HgeneNOS2C0242526Gonadal Dysgenesis, 45,X1CTD_human
HgeneNOS2C0243050Cardiovascular Abnormalities1CTD_human
HgeneNOS2C0270192Perinatal Subarachnoid Hemorrhage1CTD_human
HgeneNOS2C0270823Petit mal status1CTD_human
HgeneNOS2C0270824Visual seizure1CTD_human
HgeneNOS2C0270844Tonic Seizures1CTD_human
HgeneNOS2C0270846Epileptic drop attack1CTD_human
HgeneNOS2C0311335Grand Mal Status Epilepticus1CTD_human
HgeneNOS2C0333233Active Hyperemia1CTD_human
HgeneNOS2C0345905Intrahepatic Cholangiocarcinoma1CTD_human
HgeneNOS2C0376416Hibernation, Myocardial1CTD_human
HgeneNOS2C0376618Endotoxemia1CTD_human
HgeneNOS2C0393734Complex Partial Status Epilepticus1CTD_human
HgeneNOS2C0422850Seizures, Somatosensory1CTD_human
HgeneNOS2C0422852Seizures, Auditory1CTD_human
HgeneNOS2C0422853Olfactory seizure1CTD_human
HgeneNOS2C0422854Gustatory seizure1CTD_human
HgeneNOS2C0422855Vertiginous seizure1CTD_human
HgeneNOS2C0472383Subarachnoid Hemorrhage, Spontaneous1CTD_human
HgeneNOS2C0472387Vasogenic Cerebral Edema1CTD_human
HgeneNOS2C0472388Cytotoxic Cerebral Edema1CTD_human
HgeneNOS2C0494475Tonic - clonic seizures1CTD_human
HgeneNOS2C0520459Necrotizing Enterocolitis1CTD_human
HgeneNOS2C0546837Malignant neoplasm of esophagus1CTD_human
HgeneNOS2C0566602Primary sclerosing cholangitis1CTD_human
HgeneNOS2C0600327Toxic Shock Syndrome1CTD_human
HgeneNOS2C0678222Breast Carcinoma1CTD_human
HgeneNOS2C0750969Vasogenic Brain Edema1CTD_human
HgeneNOS2C0750970Cytotoxic Brain Edema1CTD_human
HgeneNOS2C0751056Non-epileptic convulsion1CTD_human
HgeneNOS2C0751110Single Seizure1CTD_human
HgeneNOS2C0751123Atonic Absence Seizures1CTD_human
HgeneNOS2C0751414Parkinson Disease, Secondary Vascular1CTD_human
HgeneNOS2C0751415Atherosclerotic Parkinsonism1CTD_human
HgeneNOS2C0751494Convulsive Seizures1CTD_human
HgeneNOS2C0751495Seizures, Focal1CTD_human
HgeneNOS2C0751496Seizures, Sensory1CTD_human
HgeneNOS2C0751522Status Epilepticus, Subclinical1CTD_human
HgeneNOS2C0751523Non-Convulsive Status Epilepticus1CTD_human
HgeneNOS2C0751524Simple Partial Status Epilepticus1CTD_human
HgeneNOS2C0751530Subarachnoid Hemorrhage, Aneurysmal1CTD_human
HgeneNOS2C0751651Mitochondrial Diseases1CTD_human
HgeneNOS2C0751956Acute Cerebrovascular Accidents1CTD_human
HgeneNOS2C0752304Hypoxic-Ischemic Encephalopathy1CTD_human
HgeneNOS2C0752305Anoxic-Ischemic Encephalopathy1CTD_human
HgeneNOS2C0752306Anoxia-Ischemia, Brain1CTD_human
HgeneNOS2C0752307Anoxia-Ischemia, Cerebral1CTD_human
HgeneNOS2C0752308Hypoxia-Ischemia, Brain1CTD_human
HgeneNOS2C0795688Subarachnoid Hemorrhage, Intracranial1CTD_human
HgeneNOS2C0949855Electron Transport Chain Deficiencies, Mitochondrial1CTD_human
HgeneNOS2C0949856Oxidative Phosphorylation Deficiencies1CTD_human
HgeneNOS2C0949857Mitochondrial Respiratory Chain Deficiencies1CTD_human
HgeneNOS2C1257931Mammary Neoplasms, Human1CTD_human
HgeneNOS2C1274933Drug-Induced Stevens Johnson Syndrome1CTD_human
HgeneNOS2C1306571Hepatic Insufficiency1CTD_human
HgeneNOS2C1458155Mammary Neoplasms1CTD_human
HgeneNOS2C1527168Bonnevie-Ullrich Syndrome1CTD_human
HgeneNOS2C1527303Chronic Airflow Obstruction1CTD_human
HgeneNOS2C1527311Brain Edema1CTD_human
HgeneNOS2C1563937Atherogenesis1CTD_human
HgeneNOS2C1565662Acute Kidney Insufficiency1CTD_human
HgeneNOS2C1959583Myocardial Failure1CTD_human
HgeneNOS2C1961112Heart Decompensation1CTD_human
HgeneNOS2C2609414Acute kidney injury1CTD_human
HgeneNOS2C2930617Pulmonary Fibrosis - from Asbestos Exposure1CTD_human
HgeneNOS2C3495874Nonepileptic Seizures1CTD_human
HgeneNOS2C3658301Mycoplasma-Induced Stevens-Johnson Syndrome1CTD_human
HgeneNOS2C3658302Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum1CTD_human
HgeneNOS2C3805278Extrahepatic Cholangiocarcinoma1CTD_human
HgeneNOS2C4048158Convulsions1CTD_human
HgeneNOS2C4316903Absence Seizures1CTD_human
HgeneNOS2C4317109Epileptic Seizures1CTD_human
HgeneNOS2C4317123Myoclonic Seizures1CTD_human
HgeneNOS2C4505436Generalized Absence Seizures1CTD_human
HgeneNOS2C4551595Biliary Cirrhosis, Primary, 11CTD_human
HgeneNOS2C4704874Mammary Carcinoma, Human1CTD_human
HgeneNOS2C4721845Marfan Syndrome, Type I1CTD_human