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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 1176

FusionGeneSummary for AGT_H19

check button Fusion gene summary
Fusion gene informationFusion gene name: AGT_H19
Fusion gene ID: 1176
HgeneTgene
Gene symbol

AGT

H19

Gene ID

189

283120

Gene namealanine--glyoxylate and serine--pyruvate aminotransferaseH19, imprinted maternally expressed transcript
SynonymsAGT|AGT1|AGXT1|PH1|SPAT|SPT|TLH6ASM|ASM1|BWS|D11S813E|LINC00008|NCRNA00008|WT2
Cytomap

2q37.3

11p15.5

Type of geneprotein-codingncRNA
Descriptionserine--pyruvate aminotransferaseL-alanine: glyoxylate aminotransferase 1alanine-glyoxylate aminotransferasehepatic peroxisomal alanine:glyoxylate aminotransferaseH19, imprinted maternally expressed transcript (non-protein coding)H19, imprinted maternally expressed untranslated mRNAlong intergenic non-protein coding RNA 8
Modification date2018052320180527
UniProtAcc

P01019

Ensembl transtripts involved in fusion geneENST00000366667, ENST00000390168, 
Fusion gene scores* DoF score2 X 2 X 2=825 X 28 X 3=2100
# samples 231
** MAII scorelog2(2/8*10)=1.32192809488736log2(31/2100*10)=-2.76004920727925
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]

Functional or gene categories assigned by FusionGDB annotation
* 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:0009436

glyoxylate catabolic process

22198249

HgeneAGT

GO:0019265

glycine biosynthetic process, by transamination of glyoxylate

22198249

HgeneAGT

GO:0019448

L-cysteine catabolic process

18492492

HgeneAGT

GO:0042853

L-alanine catabolic process

17696873|18492492|22198249


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDLIHCTCGA-CC-A3MB-01AAGTchr1

230839939

-H19chr11

2017024

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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

-

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FusionProtFeatures for AGT_H19


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

P01019

H19

Essential component of the renin-angiotensin system(RAS), a potent regulator of blood pressure, body fluid andelectrolyte homeostasis. Angiotensin-2: acts directly on vascular smooth muscleas a potent vasoconstrictor, affects cardiac contractility andheart rate through its action on the sympathetic nervous system,and alters renal sodium and water absorption through its abilityto stimulate the zona glomerulosa cells of the adrenal cortex tosynthesize and secrete aldosterone. Angiotensin-3: stimulates aldosterone release. Angiotensin 1-7: is a ligand for the G-protein coupledreceptor MAS1. Has vasodilator and antidiuretic effects. Has anantithrombotic effect that involves MAS1-mediated release ofnitric oxide from platelets. {ECO:0000250,ECO:0000269|PubMed:10619573, ECO:0000269|PubMed:1132082,ECO:0000269|PubMed:17138938}. Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}.

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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FusionGeneSequence for AGT_H19


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI 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
AGTEWSR1, GRB2, TP53, ITSN2, ACE, ACE2, ECE1, MME, GSDMB, REN, ATP6AP2, RIPK4, NDUFA3, CANX, HSPA5H19AGO2


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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RelatedDrugs for AGT_H19


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneAGTP01019DB01593ZincAngiotensinogensmall moleculeapproved|investigational

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RelatedDiseases for AGT_H19


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAGTC0020538Hypertensive disease69CTD_human
HgeneAGTC0018800Cardiomegaly18CTD_human
HgeneAGTC0020564Hypertrophy6CTD_human
HgeneAGTC0149721Left Ventricular Hypertrophy6CTD_human
HgeneAGTC0011570Mental Depression5PSYGENET
HgeneAGTC0011581Depressive disorder5PSYGENET
HgeneAGTC0033687Proteinuria5CTD_human
HgeneAGTC0016059Fibrosis4CTD_human
HgeneAGTC0022658Kidney Diseases4CTD_human
HgeneAGTC0162871Aortic Aneurysm, Abdominal4CTD_human
HgeneAGTC0553980Endomyocardial Fibrosis4CTD_human
HgeneAGTC0001925Albuminuria3CTD_human
HgeneAGTC0011853Diabetes Mellitus, Experimental3CTD_human
HgeneAGTC0018801Heart failure3CTD_human
HgeneAGTC0020649Hypotension3CTD_human;HPO
HgeneAGTC0021368Inflammation3CTD_human
HgeneAGTC0003811Cardiac Arrhythmia2CTD_human
HgeneAGTC0004153Atherosclerosis2CTD_human
HgeneAGTC0005586Bipolar Disorder2PSYGENET
HgeneAGTC0011881Diabetic Nephropathy2CTD_human
HgeneAGTC0027051Myocardial Infarction2CTD_human
HgeneAGTC0027055Myocardial Reperfusion Injury2CTD_human
HgeneAGTC0027540Necrosis2CTD_human
HgeneAGTC0266313Allanson Pantzar McLeod syndrome2CTD_human;HPO;ORPHANET;UNIPROT
HgeneAGTC0002063Alkalosis1CTD_human
HgeneAGTC0002871Anemia1CTD_human
HgeneAGTC0002949Aneurysm, Dissecting1CTD_human
HgeneAGTC0003460Anuria1CTD_human;HPO
HgeneAGTC0003486Aortic Aneurysm1CTD_human
HgeneAGTC0007192Cardiomyopathy, Alcoholic1CTD_human
HgeneAGTC0007222Cardiovascular Diseases1CTD_human
HgeneAGTC0007273Carotid Artery Diseases1CTD_human
HgeneAGTC0007370Catalepsy1CTD_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
HgeneAGTC0019284Diaphragmatic Hernia1CTD_human
HgeneAGTC0020429Hyperalgesia1CTD_human
HgeneAGTC0020452Hyperemia1CTD_human
HgeneAGTC0020540Malignant Hypertension1CTD_human
HgeneAGTC0020544Renal hypertension1CTD_human
HgeneAGTC0020621Hypokalemia1CTD_human
HgeneAGTC0023890Liver Cirrhosis1CTD_human
HgeneAGTC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneAGTC0027720Nephrosis1CTD_human
HgeneAGTC0029944Drug Overdose1CTD_human
HgeneAGTC0030922Peptic Ulcer Hemorrhage1CTD_human
HgeneAGTC0032914Pre-Eclampsia1CTD_human
HgeneAGTC0035126Reperfusion Injury1CTD_human
HgeneAGTC0035344Retinopathy of Prematurity1CTD_human
HgeneAGTC0036572Seizures1CTD_human
HgeneAGTC0040053Thrombosis1CTD_human
HgeneAGTC0151744Myocardial Ischemia1CTD_human
HgeneAGTC0242698Ventricular Dysfunction, Left1CTD_human
HgeneAGTC0243050Cardiovascular Abnormalities1CTD_human
HgeneAGTC0428977Bradycardia1CTD_human
HgeneAGTC0878544Cardiomyopathies1CTD_human
HgeneAGTC1565489Renal Insufficiency1CTD_human
HgeneAGTC2936380Neointima1CTD_human
HgeneAGTC3850148Vascular Remodeling1CTD_human
TgeneH19C0019188Hepatitis, Animal1CTD_human
TgeneH19C0023904Liver Neoplasms, Experimental1CTD_human
TgeneH19C0175693Russell-Silver syndrome1CTD_human