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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: 14217

FusionGeneSummary for GABBR2_AGT

check button Fusion gene summary
Fusion gene informationFusion gene name: GABBR2_AGT
Fusion gene ID: 14217
HgeneTgene
Gene symbol

GABBR2

AGT

Gene ID

9568

189

Gene namegamma-aminobutyric acid type B receptor subunit 2alanine--glyoxylate and serine--pyruvate aminotransferase
SynonymsEIEE59|GABABR2|GPR51|GPRC3B|HG20|HRIHFB2099|NDPLHSAGT|AGT1|AGXT1|PH1|SPAT|SPT|TLH6
Cytomap

9q22.33

2q37.3

Type of geneprotein-codingprotein-coding
Descriptiongamma-aminobutyric acid type B receptor subunit 2G-protein coupled receptor 51GABA-B receptor 2GABA-B receptor, R2 subunitGABA-B-R2GABA-BR2gamma-aminobutyric acid (GABA) B receptor, 2gamma-aminobutyric acid B receptor 2gb2serine--pyruvate aminotransferaseL-alanine: glyoxylate aminotransferase 1alanine-glyoxylate aminotransferasehepatic peroxisomal alanine:glyoxylate aminotransferase
Modification date2018051920180523
UniProtAcc

O75899

P01019

Ensembl transtripts involved in fusion geneENST00000259455, ENST00000477471, 
ENST00000366667, 
Fusion gene scores* DoF score4 X 4 X 2=322 X 2 X 2=8
# samples 42
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/8*10)=1.32192809488736
Context

PubMed: GABBR2 [Title/Abstract] AND AGT [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
HgeneGABBR2

GO:0007214

gamma-aminobutyric acid signaling pathway

9872316

TgeneAGT

GO:0009436

glyoxylate catabolic process

22198249

TgeneAGT

GO:0019265

glycine biosynthetic process, by transamination of glyoxylate

22198249

TgeneAGT

GO:0019448

L-cysteine catabolic process

18492492

TgeneAGT

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
ChiTaRS3.1DA142897GABBR2chr9

101051796

-AGTchr1

230849867

-
* 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
intron-5UTRENST00000259455ENST00000366667GABBR2chr9

101051796

-AGTchr1

230849867

-
intron-5UTRENST00000477471ENST00000366667GABBR2chr9

101051796

-AGTchr1

230849867

-

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FusionProtFeatures for GABBR2_AGT


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GABBR2

O75899

AGT

P01019

Component of a heterodimeric G-protein coupled receptorfor GABA, formed by GABBR1 and GABBR2 (PubMed:9872316,PubMed:9872744, PubMed:15617512, PubMed:18165688, PubMed:22660477,PubMed:24305054). Within the heterodimeric GABA receptor, onlyGABBR1 seems to bind agonists, while GABBR2 mediates coupling to Gproteins (PubMed:18165688). Ligand binding causes a conformationchange that triggers signaling via guanine nucleotide-bindingproteins (G proteins) and modulates the activity of down-streameffectors, such as adenylate cyclase (PubMed:10075644,PubMed:10773016, PubMed:24305054). Signaling inhibits adenylatecyclase, stimulates phospholipase A2, activates potassiumchannels, inactivates voltage-dependent calcium-channels andmodulates inositol phospholipid hydrolysis (PubMed:10075644,PubMed:9872744, PubMed:10906333, PubMed:10773016). Plays acritical role in the fine-tuning of inhibitory synaptictransmission (PubMed:9872744, PubMed:22660477). Pre-synaptic GABAreceptor inhibits neurotransmitter release by down-regulatinghigh-voltage activated calcium channels, whereas postsynaptic GABAreceptor decreases neuronal excitability by activating a prominentinwardly rectifying potassium (Kir) conductance that underlies thelate inhibitory postsynaptic potentials (PubMed:9872316,PubMed:10075644, PubMed:9872744, PubMed:22660477). Not onlyimplicated in synaptic inhibition but also in hippocampal long-term potentiation, slow wave sleep, muscle relaxation andantinociception (Probable). {ECO:0000269|PubMed:10075644,ECO:0000269|PubMed:10328880, ECO:0000269|PubMed:15617512,ECO:0000269|PubMed:18165688, ECO:0000269|PubMed:22660477,ECO:0000269|PubMed:24305054, ECO:0000269|PubMed:9872316,ECO:0000269|PubMed:9872744, ECO:0000305}. 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}.

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 GABBR2_AGT


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 GABBR2_AGT


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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RelatedDrugs for GABBR2_AGT


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneGABBR2O75899DB00181BaclofenGamma-aminobutyric acid type B receptor subunit 2small moleculeapproved
HgeneGABBR2O75899DB00996GabapentinGamma-aminobutyric acid type B receptor subunit 2small moleculeapproved|investigational
TgeneAGTP01019DB01593ZincAngiotensinogensmall moleculeapproved|investigational

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RelatedDiseases for GABBR2_AGT


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGABBR2C0004352Autistic Disorder1CTD_human
HgeneGABBR2C0041696Unipolar Depression1PSYGENET
HgeneGABBR2C1269683Major Depressive Disorder1PSYGENET
TgeneAGTC0020538Hypertensive disease69CTD_human
TgeneAGTC0018800Cardiomegaly18CTD_human
TgeneAGTC0020564Hypertrophy6CTD_human
TgeneAGTC0149721Left Ventricular Hypertrophy6CTD_human
TgeneAGTC0011570Mental Depression5PSYGENET
TgeneAGTC0011581Depressive disorder5PSYGENET
TgeneAGTC0033687Proteinuria5CTD_human
TgeneAGTC0016059Fibrosis4CTD_human
TgeneAGTC0022658Kidney Diseases4CTD_human
TgeneAGTC0162871Aortic Aneurysm, Abdominal4CTD_human
TgeneAGTC0553980Endomyocardial Fibrosis4CTD_human
TgeneAGTC0001925Albuminuria3CTD_human
TgeneAGTC0011853Diabetes Mellitus, Experimental3CTD_human
TgeneAGTC0018801Heart failure3CTD_human
TgeneAGTC0020649Hypotension3CTD_human;HPO
TgeneAGTC0021368Inflammation3CTD_human
TgeneAGTC0003811Cardiac Arrhythmia2CTD_human
TgeneAGTC0004153Atherosclerosis2CTD_human
TgeneAGTC0005586Bipolar Disorder2PSYGENET
TgeneAGTC0011881Diabetic Nephropathy2CTD_human
TgeneAGTC0027051Myocardial Infarction2CTD_human
TgeneAGTC0027055Myocardial Reperfusion Injury2CTD_human
TgeneAGTC0027540Necrosis2CTD_human
TgeneAGTC0266313Allanson Pantzar McLeod syndrome2CTD_human;HPO;ORPHANET;UNIPROT
TgeneAGTC0002063Alkalosis1CTD_human
TgeneAGTC0002871Anemia1CTD_human
TgeneAGTC0002949Aneurysm, Dissecting1CTD_human
TgeneAGTC0003460Anuria1CTD_human;HPO
TgeneAGTC0003486Aortic Aneurysm1CTD_human
TgeneAGTC0007192Cardiomyopathy, Alcoholic1CTD_human
TgeneAGTC0007222Cardiovascular Diseases1CTD_human
TgeneAGTC0007273Carotid Artery Diseases1CTD_human
TgeneAGTC0007370Catalepsy1CTD_human
TgeneAGTC0009241Cognition Disorders1CTD_human
TgeneAGTC0011071Sudden death1CTD_human
TgeneAGTC0011884Diabetic Retinopathy1CTD_human
TgeneAGTC0015934Fetal Growth Retardation1CTD_human
TgeneAGTC0017658Glomerulonephritis1CTD_human
TgeneAGTC0017661IGA Glomerulonephritis1CTD_human
TgeneAGTC0017668Focal glomerulosclerosis1CTD_human
TgeneAGTC0018799Heart Diseases1CTD_human
TgeneAGTC0019284Diaphragmatic Hernia1CTD_human
TgeneAGTC0020429Hyperalgesia1CTD_human
TgeneAGTC0020452Hyperemia1CTD_human
TgeneAGTC0020540Malignant Hypertension1CTD_human
TgeneAGTC0020544Renal hypertension1CTD_human
TgeneAGTC0020621Hypokalemia1CTD_human
TgeneAGTC0023890Liver Cirrhosis1CTD_human
TgeneAGTC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneAGTC0027720Nephrosis1CTD_human
TgeneAGTC0029944Drug Overdose1CTD_human
TgeneAGTC0030922Peptic Ulcer Hemorrhage1CTD_human
TgeneAGTC0032914Pre-Eclampsia1CTD_human
TgeneAGTC0035126Reperfusion Injury1CTD_human
TgeneAGTC0035344Retinopathy of Prematurity1CTD_human
TgeneAGTC0036572Seizures1CTD_human
TgeneAGTC0040053Thrombosis1CTD_human
TgeneAGTC0151744Myocardial Ischemia1CTD_human
TgeneAGTC0242698Ventricular Dysfunction, Left1CTD_human
TgeneAGTC0243050Cardiovascular Abnormalities1CTD_human
TgeneAGTC0428977Bradycardia1CTD_human
TgeneAGTC0878544Cardiomyopathies1CTD_human
TgeneAGTC1565489Renal Insufficiency1CTD_human
TgeneAGTC2936380Neointima1CTD_human
TgeneAGTC3850148Vascular Remodeling1CTD_human