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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:AGT-H19 (FusionGDB2 ID:HG183TG283120)

Fusion Gene Summary for AGT-H19

check button Fusion gene summary
Fusion gene informationFusion gene name: AGT-H19
Fusion gene ID: hg183tg283120
HgeneTgene
Gene symbol

AGT

H19

Gene ID

183

283120

Gene nameangiotensinogenH19 imprinted maternally expressed transcript
SynonymsANHU|SERPINA8|hFLT1ASM|ASM1|BWS|D11S813E|LINC00008|MIR675HG|NCRNA00008|WT2
Cytomap('AGT')('H19')

1q42.2

11p15.5

Type of geneprotein-codingncRNA
Descriptionangiotensinogenalpha-1 antiproteinase, antitrypsinangiotensin Iangiotensin IIfetal-liver predominant transporter 1pre-angiotensinogenserine (or cysteine) proteinase inhibitorserpin A8serpin peptidase inhibitor, clade A, member 8H19, imprinted maternally expressed transcript (non-protein coding)H19, imprinted maternally expressed untranslated mRNAMIR675 hostadult skeletal musclelong intergenic non-protein coding RNA 8
Modification date2020032220200322
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000366667, 
Fusion gene scores* DoF score2 X 2 X 2=828 X 32 X 7=6272
# samples 230
** MAII scorelog2(2/8*10)=1.32192809488736log2(30/6272*10)=-4.38589115361933
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AGT [Title/Abstract] AND H19 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAGT(230839939)-H19(2017024), # 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
HgeneAGT

GO:0003014

renal system process

21183621

HgeneAGT

GO:0007186

G protein-coupled receptor signaling pathway

10406457

HgeneAGT

GO:0010595

positive regulation of endothelial cell migration

15652490

HgeneAGT

GO:0010873

positive regulation of cholesterol esterification

18971559

HgeneAGT

GO:0014068

positive regulation of phosphatidylinositol 3-kinase signaling

15652490

HgeneAGT

GO:0032270

positive regulation of cellular protein metabolic process

18971559

HgeneAGT

GO:0045742

positive regulation of epidermal growth factor receptor signaling pathway

15652490

HgeneAGT

GO:0045893

positive regulation of transcription, DNA-templated

15153556|18607644

HgeneAGT

GO:0050731

positive regulation of peptidyl-tyrosine phosphorylation

15652490

HgeneAGT

GO:0051387

negative regulation of neurotrophin TRK receptor signaling pathway

10406457

HgeneAGT

GO:0090190

positive regulation of branching involved in ureteric bud morphogenesis

18607644

HgeneAGT

GO:2001238

positive regulation of extrinsic apoptotic signaling pathway

10406457



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
ChimerDB4LIHCTCGA-CC-A3MB-01AAGTchr1

230839939

-H19chr11

2017024

-


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Fusion Gene ORF analysis for AGT-H19

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-intronENST00000366667ENST00000390168AGTchr1

230839939

-H19chr11

2017024

-

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 AGT-H19


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 AGT-H19


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/:230839939/:2017024)
- 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 AGT-H19


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 AGT-H19


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 AGT-H19


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 AGT-H19


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAGTC0020538Hypertensive disease77CTD_human
HgeneAGTC0018800Cardiomegaly21CTD_human
HgeneAGTC1383860Cardiac Hypertrophy21CTD_human
HgeneAGTC0149721Left Ventricular Hypertrophy7CTD_human
HgeneAGTC0020564Hypertrophy6CTD_human
HgeneAGTC0033687Proteinuria6CTD_human
HgeneAGTC0011570Mental Depression5PSYGENET
HgeneAGTC0011581Depressive disorder5PSYGENET
HgeneAGTC0016059Fibrosis5CTD_human
HgeneAGTC0022658Kidney Diseases5CTD_human
HgeneAGTC0553980Endomyocardial Fibrosis5CTD_human
HgeneAGTC1623038Cirrhosis5CTD_human
HgeneAGTC0021368Inflammation4CTD_human
HgeneAGTC0162871Aortic Aneurysm, Abdominal4CTD_human
HgeneAGTC0266313Allanson Pantzar McLeod syndrome4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneAGTC0001925Albuminuria3CTD_human
HgeneAGTC0002152Alloxan Diabetes3CTD_human
HgeneAGTC0011853Diabetes Mellitus, Experimental3CTD_human
HgeneAGTC0018801Heart failure3CTD_human
HgeneAGTC0018802Congestive heart failure3CTD_human
HgeneAGTC0020649Hypotension3CTD_human
HgeneAGTC0023212Left-Sided Heart Failure3CTD_human
HgeneAGTC0038433Streptozotocin Diabetes3CTD_human
HgeneAGTC0235527Heart Failure, Right-Sided3CTD_human
HgeneAGTC0242698Ventricular Dysfunction, Left3CTD_human
HgeneAGTC1959583Myocardial Failure3CTD_human
HgeneAGTC1961112Heart Decompensation3CTD_human
HgeneAGTC0003811Cardiac Arrhythmia2CTD_human
HgeneAGTC0004153Atherosclerosis2CTD_human
HgeneAGTC0005586Bipolar Disorder2PSYGENET
HgeneAGTC0011881Diabetic Nephropathy2CTD_human
HgeneAGTC0017667Nodular glomerulosclerosis2CTD_human
HgeneAGTC0020540Malignant Hypertension2CTD_human
HgeneAGTC0027051Myocardial Infarction2CTD_human
HgeneAGTC0027055Myocardial Reperfusion Injury2CTD_human
HgeneAGTC0027540Necrosis2CTD_human
HgeneAGTC0034069Pulmonary Fibrosis2CTD_human
HgeneAGTC0040053Thrombosis2CTD_human
HgeneAGTC0087086Thrombus2CTD_human
HgeneAGTC1563937Atherogenesis2CTD_human
HgeneAGTC2678367Renal Tubular Dysgenesis With Choanal Atresia And Athelia2ORPHANET
HgeneAGTC2936380Neointima2CTD_human
HgeneAGTC2936381Neointima Formation2CTD_human
HgeneAGTC3850148Vascular Remodeling2CTD_human
HgeneAGTC3852953Pulmonary Arterial Remodeling2CTD_human
HgeneAGTC4721507Alveolitis, Fibrosing2CTD_human
HgeneAGTC0002063Alkalosis1CTD_human
HgeneAGTC0002871Anemia1CTD_human
HgeneAGTC0002949Aneurysm, Dissecting1CTD_human
HgeneAGTC0003460Anuria1CTD_human
HgeneAGTC0003486Aortic Aneurysm1CTD_human
HgeneAGTC0007192Cardiomyopathy, Alcoholic1CTD_human
HgeneAGTC0007222Cardiovascular Diseases1CTD_human
HgeneAGTC0007273Carotid Artery Diseases1CTD_human
HgeneAGTC0007370Catalepsy1CTD_human
HgeneAGTC0008370Cholestasis1CTD_human
HgeneAGTC0009241Cognition Disorders1CTD_human
HgeneAGTC0011071Sudden death1CTD_human
HgeneAGTC0011884Diabetic Retinopathy1CTD_human
HgeneAGTC0015934Fetal Growth Retardation1CTD_human
HgeneAGTC0017658Glomerulonephritis1CTD_human
HgeneAGTC0017661IGA Glomerulonephritis1CTD_human
HgeneAGTC0017668Focal glomerulosclerosis1CTD_human
HgeneAGTC0018799Heart Diseases1CTD_human
HgeneAGTC0019193Hepatitis, Toxic1CTD_human
HgeneAGTC0019284Diaphragmatic Hernia1CTD_human
HgeneAGTC0020429Hyperalgesia1CTD_human
HgeneAGTC0020452Hyperemia1CTD_human
HgeneAGTC0020544Renal hypertension1CTD_human
HgeneAGTC0020621Hypokalemia1CTD_human
HgeneAGTC0022333Jacksonian Seizure1CTD_human
HgeneAGTC0023890Liver Cirrhosis1CTD_human
HgeneAGTC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneAGTC0027720Nephrosis1CTD_human
HgeneAGTC0029944Drug Overdose1CTD_human
HgeneAGTC0030922Peptic Ulcer Hemorrhage1CTD_human
HgeneAGTC0032285Pneumonia1CTD_human
HgeneAGTC0032300Lobar Pneumonia1CTD_human
HgeneAGTC0032914Pre-Eclampsia1CTD_human
HgeneAGTC0033141Cardiomyopathies, Primary1CTD_human
HgeneAGTC0035078Kidney Failure1CTD_human
HgeneAGTC0035126Reperfusion Injury1CTD_human
HgeneAGTC0035344Retinopathy of Prematurity1CTD_human
HgeneAGTC0036529Myocardial Diseases, Secondary1CTD_human
HgeneAGTC0036572Seizures1CTD_human
HgeneAGTC0041956Ureteral obstruction1CTD_human
HgeneAGTC0042484Venous Engorgement1CTD_human
HgeneAGTC0085580Essential Hypertension1CTD_human;GENOMICS_ENGLAND
HgeneAGTC0086432Hyalinosis, Segmental Glomerular1CTD_human
HgeneAGTC0149958Complex partial seizures1CTD_human
HgeneAGTC0151744Myocardial Ischemia1CTD_human
HgeneAGTC0178824Reactive Hyperemia1CTD_human
HgeneAGTC0233612Waxy flexibility1CTD_human
HgeneAGTC0234533Generalized seizures1CTD_human
HgeneAGTC0234535Clonic Seizures1CTD_human
HgeneAGTC0239946Fibrosis, Liver1CTD_human
HgeneAGTC0243050Cardiovascular Abnormalities1CTD_human
HgeneAGTC0270824Visual seizure1CTD_human
HgeneAGTC0270844Tonic Seizures1CTD_human
HgeneAGTC0270846Epileptic drop attack1CTD_human
HgeneAGTC0271650Impaired glucose tolerance1CTD_human
HgeneAGTC0333233Active Hyperemia1CTD_human
HgeneAGTC0340643Dissection of aorta1CTD_human
HgeneAGTC0422850Seizures, Somatosensory1CTD_human
HgeneAGTC0422852Seizures, Auditory1CTD_human
HgeneAGTC0422853Olfactory seizure1CTD_human
HgeneAGTC0422854Gustatory seizure1CTD_human
HgeneAGTC0422855Vertiginous seizure1CTD_human
HgeneAGTC0428977Bradycardia1CTD_human
HgeneAGTC0458247Allodynia1CTD_human
HgeneAGTC0494475Tonic - clonic seizures1CTD_human
HgeneAGTC0577631Carotid Atherosclerosis1CTD_human
HgeneAGTC0600178External Carotid Artery Diseases1CTD_human
HgeneAGTC0600519Ventricular Remodeling1CTD_human
HgeneAGTC0600520Left Ventricle Remodeling1CTD_human
HgeneAGTC0750986Internal Carotid Artery Diseases1CTD_human
HgeneAGTC0750987Arterial Diseases, Common Carotid1CTD_human
HgeneAGTC0751056Non-epileptic convulsion1CTD_human
HgeneAGTC0751110Single Seizure1CTD_human
HgeneAGTC0751123Atonic Absence Seizures1CTD_human
HgeneAGTC0751211Hyperalgesia, Primary1CTD_human
HgeneAGTC0751212Hyperalgesia, Secondary1CTD_human
HgeneAGTC0751213Tactile Allodynia1CTD_human
HgeneAGTC0751214Hyperalgesia, Thermal1CTD_human
HgeneAGTC0751494Convulsive Seizures1CTD_human
HgeneAGTC0751495Seizures, Focal1CTD_human
HgeneAGTC0751496Seizures, Sensory1CTD_human
HgeneAGTC0853897Diabetic Cardiomyopathies1CTD_human
HgeneAGTC0860207Drug-Induced Liver Disease1CTD_human
HgeneAGTC0878544Cardiomyopathies1CTD_human
HgeneAGTC0887898Experimental Lung Inflammation1CTD_human
HgeneAGTC1262760Hepatitis, Drug-Induced1CTD_human
HgeneAGTC1565489Renal Insufficiency1CTD_human
HgeneAGTC1704377Bright Disease1CTD_human
HgeneAGTC2936719Mechanical Allodynia1CTD_human
HgeneAGTC3495874Nonepileptic Seizures1CTD_human
HgeneAGTC3658290Drug-Induced Acute Liver Injury1CTD_human
HgeneAGTC3714636Pneumonitis1CTD_human
HgeneAGTC4048158Convulsions1CTD_human
HgeneAGTC4277533Dissection, Blood Vessel1CTD_human
HgeneAGTC4277682Chemical and Drug Induced Liver Injury1CTD_human
HgeneAGTC4279912Chemically-Induced Liver Toxicity1CTD_human
HgeneAGTC4316903Absence Seizures1CTD_human
HgeneAGTC4317109Epileptic Seizures1CTD_human
HgeneAGTC4317123Myoclonic Seizures1CTD_human
HgeneAGTC4505436Generalized Absence Seizures1CTD_human
TgeneC0332890Congenital hemihypertrophy3ORPHANET
TgeneC1856184HEMIHYPERPLASIA, ISOLATED3ORPHANET
TgeneC0175693Russell-Silver syndrome2CTD_human;GENOMICS_ENGLAND
TgeneC0006142Malignant neoplasm of breast1CTD_human
TgeneC0019188Hepatitis, Animal1CTD_human
TgeneC0019193Hepatitis, Toxic1CTD_human
TgeneC0019207Hepatoma, Morris1CTD_human
TgeneC0019208Hepatoma, Novikoff1CTD_human
TgeneC0023904Liver Neoplasms, Experimental1CTD_human
TgeneC0027626Neoplasm Invasiveness1CTD_human
TgeneC0086404Experimental Hepatoma1CTD_human
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC0860207Drug-Induced Liver Disease1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1262760Hepatitis, Drug-Induced1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneC4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneC4279912Chemically-Induced Liver Toxicity1CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human