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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:HLA-DPB1-NOS3 (FusionGDB2 ID:HG3115TG4846)

Fusion Gene Summary for HLA-DPB1-NOS3

check button Fusion gene summary
Fusion gene informationFusion gene name: HLA-DPB1-NOS3
Fusion gene ID: hg3115tg4846
HgeneTgene
Gene symbol

HLA-DPB1

NOS3

Gene ID

3115

4846

Gene namemajor histocompatibility complex, class II, DP beta 1nitric oxide synthase 3
SynonymsDPB1|HLA-DP|HLA-DP1B|HLA-DPBECNOS|eNOS
Cytomap('HLA-DPB1')('NOS3')

6p21.32

7q36.1

Type of geneprotein-codingprotein-coding
DescriptionHLA class II histocompatibility antigen, DP beta 1 chainHLA class II histocompatibility antigen, DP(W4) beta chainHLA-DP histocompatibility type, beta-1 subunitMHC HLA DPB1MHC class II HLA-DP-beta-1MHC class II antigen DPB1nitric oxide synthase, endothelialEC-NOSNOS type IIINOSIIIcNOSconstitutive NOSendothelial NOSnitric oxide synthase 3 (endothelial cell)nitric oxide synthase 3 transcript variant eNOS-delta20nitric oxide synthase 3 transcript variant eNOS-delta20-
Modification date2020031320200328
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000418931, ENST00000383102, 
ENST00000399491, ENST00000399500, 
ENST00000411424, ENST00000411558, 
ENST00000411749, ENST00000415996, 
ENST00000425130, ENST00000433800, 
ENST00000441857, ENST00000441981, 
ENST00000444931, ENST00000447783, 
ENST00000454006, ENST00000461155, 
ENST00000469961, ENST00000471184, 
ENST00000472101, ENST00000474044, 
ENST00000481615, ENST00000491972, 
ENST00000492916, ENST00000535465, 
ENST00000548074, ENST00000548235, 
ENST00000548608, ENST00000548907, 
ENST00000550949, ENST00000551599, 
ENST00000552574, ENST00000553195, 
Fusion gene scores* DoF score4 X 6 X 1=244 X 5 X 4=80
# samples 65
** MAII scorelog2(6/24*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HLA-DPB1 [Title/Abstract] AND NOS3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHLA-DPB1(33054497)-NOS3(150692384), # 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
TgeneNOS3

GO:0006527

arginine catabolic process

1378832|7488039

TgeneNOS3

GO:0006809

nitric oxide biosynthetic process

1378832|7488039

TgeneNOS3

GO:0019430

removal of superoxide radicals

19666465

TgeneNOS3

GO:0043536

positive regulation of blood vessel endothelial cell migration

23802567

TgeneNOS3

GO:0045766

positive regulation of angiogenesis

23802567



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 HLA-DPB1-NOS3

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 HLA-DPB1-NOS3


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 HLA-DPB1-NOS3


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/:33054497/:150692384)
- 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 HLA-DPB1-NOS3


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 HLA-DPB1-NOS3


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 HLA-DPB1-NOS3


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 HLA-DPB1-NOS3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHLA-DPB1C0005138Berylliosis7CTD_human;ORPHANET
HgeneHLA-DPB1C2350873Beryllium Disease6CTD_human
HgeneHLA-DPB1C0036202Sarcoidosis3CTD_human
HgeneHLA-DPB1C0003873Rheumatoid Arthritis2CTD_human
HgeneHLA-DPB1C0004096Asthma2CTD_human
HgeneHLA-DPB1C0002994Angioedema1CTD_human
HgeneHLA-DPB1C0007570Celiac Disease1CTD_human
HgeneHLA-DPB1C0007873Uterine Cervical Neoplasm1CTD_human
HgeneHLA-DPB1C0011609Drug Eruptions1CTD_human
HgeneHLA-DPB1C0014175Endometriosis1CTD_human
HgeneHLA-DPB1C0025261Memory Disorders1CTD_human
HgeneHLA-DPB1C0026769Multiple Sclerosis1CTD_human
HgeneHLA-DPB1C0026896Myasthenia Gravis1CTD_human
HgeneHLA-DPB1C0042109Urticaria1CTD_human
HgeneHLA-DPB1C0162823Dermatitis, Irritant1CTD_human
HgeneHLA-DPB1C0221052Chronic berylliosis1ORPHANET
HgeneHLA-DPB1C0233794Memory impairment1CTD_human
HgeneHLA-DPB1C0269102Endometrioma1CTD_human
HgeneHLA-DPB1C0406537Morbilliform Drug Reaction1CTD_human
HgeneHLA-DPB1C0524909Hepatitis B, Chronic1CTD_human
HgeneHLA-DPB1C0751292Age-Related Memory Disorders1CTD_human
HgeneHLA-DPB1C0751293Memory Disorder, Semantic1CTD_human
HgeneHLA-DPB1C0751294Memory Disorder, Spatial1CTD_human
HgeneHLA-DPB1C0751295Memory Loss1CTD_human
HgeneHLA-DPB1C0751324Multiple Sclerosis, Acute Fulminating1CTD_human
HgeneHLA-DPB1C0751339Myasthenia Gravis, Generalized1CTD_human
HgeneHLA-DPB1C0751340Myasthenia Gravis, Ocular1CTD_human
HgeneHLA-DPB1C1319853Asthma, Aspirin-Induced1CTD_human
HgeneHLA-DPB1C3495801Granulomatosis with polyangiitis1ORPHANET
HgeneHLA-DPB1C4048328cervical cancer1CTD_human
TgeneC0002152Alloxan Diabetes8CTD_human
TgeneC0011853Diabetes Mellitus, Experimental8CTD_human
TgeneC0038433Streptozotocin Diabetes8CTD_human
TgeneC0020538Hypertensive disease5CTD_human
TgeneC0010054Coronary Arteriosclerosis4CTD_human
TgeneC0011570Mental Depression4PSYGENET
TgeneC0011581Depressive disorder4PSYGENET
TgeneC0018800Cardiomegaly4CTD_human
TgeneC0021655Insulin Resistance4CTD_human
TgeneC0920563Insulin Sensitivity4CTD_human
TgeneC1383860Cardiac Hypertrophy4CTD_human
TgeneC1956346Coronary Artery Disease4CTD_human
TgeneC0033578Prostatic Neoplasms3CTD_human
TgeneC0376358Malignant neoplasm of prostate3CTD_human
TgeneC0524620Metabolic Syndrome X3CTD_human
TgeneC0002395Alzheimer's Disease2CTD_human
TgeneC0004153Atherosclerosis2CTD_human
TgeneC0006142Malignant neoplasm of breast2CTD_human
TgeneC0007222Cardiovascular Diseases2CTD_human
TgeneC0010073Coronary Artery Vasospasm2CTD_human
TgeneC0011265Presenile dementia2CTD_human
TgeneC0011860Diabetes Mellitus, Non-Insulin-Dependent2CTD_human
TgeneC0018801Heart failure2CTD_human
TgeneC0018802Congestive heart failure2CTD_human
TgeneC0019284Diaphragmatic Hernia2CTD_human
TgeneC0023212Left-Sided Heart Failure2CTD_human
TgeneC0027051Myocardial Infarction2CTD_human
TgeneC0235527Heart Failure, Right-Sided2CTD_human
TgeneC0242350Erectile dysfunction2CTD_human
TgeneC0276496Familial Alzheimer Disease (FAD)2CTD_human
TgeneC0494463Alzheimer Disease, Late Onset2CTD_human
TgeneC0546126Acute Confusional Senile Dementia2CTD_human
TgeneC0678222Breast Carcinoma2CTD_human
TgeneC0750900Alzheimer's Disease, Focal Onset2CTD_human
TgeneC0750901Alzheimer Disease, Early Onset2CTD_human
TgeneC1257931Mammary Neoplasms, Human2CTD_human
TgeneC1458155Mammary Neoplasms2CTD_human
TgeneC1563937Atherogenesis2CTD_human
TgeneC1959583Myocardial Failure2CTD_human
TgeneC1961112Heart Decompensation2CTD_human
TgeneC4704874Mammary Carcinoma, Human2CTD_human
TgeneC0000832Abruptio Placentae1CTD_human
TgeneC0001418Adenocarcinoma1CTD_human
TgeneC0003129Anoxemia1CTD_human
TgeneC0003130Anoxia1CTD_human
TgeneC0003850Arteriosclerosis1CTD_human
TgeneC0004238Atrial Fibrillation1CTD_human
TgeneC0005398Cholestasis, Extrahepatic1CTD_human
TgeneC0005586Bipolar Disorder1PSYGENET
TgeneC0006826Malignant Neoplasms1CTD_human
TgeneC0008312Primary biliary cirrhosis1CTD_human
TgeneC0008924Cleft upper lip1CTD_human
TgeneC0008925Cleft Palate1CTD_human
TgeneC0010398Cruveilhier-Baumgarten Syndrome1CTD_human
TgeneC0011854Diabetes Mellitus, Insulin-Dependent1CTD_human
TgeneC0011875Diabetic Angiopathies1CTD_human
TgeneC0011881Diabetic Nephropathy1CTD_human
TgeneC0014859Esophageal Neoplasms1CTD_human
TgeneC0015934Fetal Growth Retardation1CTD_human
TgeneC0017667Nodular glomerulosclerosis1CTD_human
TgeneC0018036Hypertension, Goldblatt1CTD_human
TgeneC0019209Hepatomegaly1CTD_human
TgeneC0020456Hyperglycemia1CTD_human
TgeneC0020459Hyperinsulinism1CTD_human
TgeneC0020473Hyperlipidemia1CTD_human
TgeneC0020541Portal Hypertension1CTD_human
TgeneC0020542Pulmonary Hypertension1CTD_human
TgeneC0020545Hypertension, Renovascular1CTD_human
TgeneC0021364Male infertility1CTD_human
TgeneC0021845Intestinal Perforation1CTD_human
TgeneC0022116Ischemia1CTD_human
TgeneC0022660Kidney Failure, Acute1CTD_human
TgeneC0023892Biliary cirrhosis1CTD_human
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0024117Chronic Obstructive Airway Disease1CTD_human
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0025945Microangiopathy, Diabetic1CTD_human
TgeneC0027055Myocardial Reperfusion Injury1CTD_human
TgeneC0027651Neoplasms1CTD_human
TgeneC0028960Oligospermia1CTD_human
TgeneC0034063Pulmonary Edema1CTD_human
TgeneC0034189Pyemia1CTD_human
TgeneC0035126Reperfusion Injury1CTD_human
TgeneC0036690Septicemia1CTD_human
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC0038358Gastric ulcer1CTD_human
TgeneC0041948Uremia1CTD_human
TgeneC0041956Ureteral obstruction1CTD_human
TgeneC0042514Tachycardia, Ventricular1CTD_human
TgeneC0042594Vestibular Diseases1CTD_human
TgeneC0086692Benign Neoplasm1CTD_human
TgeneC0151636Premature ventricular contractions1CTD_human
TgeneC0151744Myocardial Ischemia1CTD_human
TgeneC0205641Adenocarcinoma, Basal Cell1CTD_human
TgeneC0205642Adenocarcinoma, Oxyphilic1CTD_human
TgeneC0205643Carcinoma, Cribriform1CTD_human
TgeneC0205644Carcinoma, Granular Cell1CTD_human
TgeneC0205645Adenocarcinoma, Tubular1CTD_human
TgeneC0205734Diabetes, Autoimmune1CTD_human
TgeneC0235480Paroxysmal atrial fibrillation1CTD_human
TgeneC0238065Secondary Biliary Cholangitis1CTD_human
TgeneC0242184Hypoxia1CTD_human
TgeneC0243026Sepsis1CTD_human
TgeneC0341934Transient hypertension of pregnancy1CTD_human
TgeneC0342302Brittle diabetes1CTD_human
TgeneC0403824Teratozoospermia1CTD_human
TgeneC0403825Globozoospermia1CTD_human
TgeneC0520459Necrotizing Enterocolitis1CTD_human
TgeneC0546837Malignant neoplasm of esophagus1CTD_human
TgeneC0700292Hypoxemia1CTD_human
TgeneC0848676Subfertility, Male1CTD_human
TgeneC0852036Pregnancy associated hypertension1CTD_human
TgeneC0917731Male sterility1CTD_human
TgeneC1257963Endogenous Hyperinsulinism1CTD_human
TgeneC1257964Exogenous Hyperinsulinism1CTD_human
TgeneC1257965Compensatory Hyperinsulinemia1CTD_human
TgeneC1306571Hepatic Insufficiency1CTD_human
TgeneC1527303Chronic Airflow Obstruction1CTD_human
TgeneC1565662Acute Kidney Insufficiency1CTD_human
TgeneC1706412Lipidemias1CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneC1719672Severe Sepsis1CTD_human
TgeneC1837218Cleft palate, isolated1CTD_human
TgeneC1855520Hyperglycemia, Postprandial1CTD_human
TgeneC2585653Persistent atrial fibrillation1CTD_human
TgeneC2609414Acute kidney injury1CTD_human
TgeneC3468561familial atrial fibrillation1CTD_human
TgeneC3837958Diabetes Mellitus, Ketosis-Prone1CTD_human
TgeneC4551595Biliary Cirrhosis, Primary, 11CTD_human
TgeneC4554117Diabetes Mellitus, Sudden-Onset1CTD_human