Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:NF1-AGTR1 (FusionGDB2 ID:HG4763TG185)

Fusion Gene Summary for NF1-AGTR1

check button Fusion gene summary
Fusion gene informationFusion gene name: NF1-AGTR1
Fusion gene ID: hg4763tg185
HgeneTgene
Gene symbol

NF1

AGTR1

Gene ID

4763

185

Gene nameneurofibromin 1angiotensin II receptor type 1
SynonymsNFNS|VRNF|WSSAG2S|AGTR1B|AT1|AT1AR|AT1B|AT1BR|AT1R|AT2R1|HAT1R
Cytomap('NF1')('AGTR1')

17q11.2

3q24

Type of geneprotein-codingprotein-coding
Descriptionneurofibrominneurofibromatosis 1neurofibromatosis-related protein NF-1truncated neurofibromin 1type-1 angiotensin II receptortype-1B angiotensin II receptor
Modification date2020032220200322
UniProtAcc

P21359

.
Ensembl transtripts involved in fusion geneENST00000581113, ENST00000356175, 
ENST00000358273, ENST00000417592, 
ENST00000431387, ENST00000444181, 
Fusion gene scores* DoF score47 X 26 X 21=256622 X 2 X 2=8
# samples 692
** MAII scorelog2(69/25662*10)=-5.21689344093196
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/8*10)=1.32192809488736
Context

PubMed: NF1 [Title/Abstract] AND AGTR1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNF1(29662049)-AGTR1(148425731), # samples:3
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
HgeneNF1

GO:0043547

positive regulation of GTPase activity

2121371

TgeneAGTR1

GO:0007186

G protein-coupled receptor signaling pathway

1378723

TgeneAGTR1

GO:0007204

positive regulation of cytosolic calcium ion concentration

1567413

TgeneAGTR1

GO:0007266

Rho protein signal transduction

15611106

TgeneAGTR1

GO:0019229

regulation of vasoconstriction

15117835

TgeneAGTR1

GO:0019722

calcium-mediated signaling

1567413

TgeneAGTR1

GO:0038166

angiotensin-activated signaling pathway

1567413

TgeneAGTR1

GO:0051482

positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway

1567413

TgeneAGTR1

GO:0060326

cell chemotaxis

15635042

TgeneAGTR1

GO:0086097

phospholipase C-activating angiotensin-activated signaling pathway

1378723



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
ChimerDB4LUSCTCGA-92-8063-01ANF1chr17

29662049

-AGTR1chr3

148425731

+
ChimerDB4LUSCTCGA-92-8063-01ANF1chr17

29662049

+AGTR1chr3

148425731

+
ChimerDB4LUSCTCGA-92-8063NF1chr17

29662049

+AGTR1chr3

148425731

+


Top

Fusion Gene ORF analysis for NF1-AGTR1

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
3UTR-3UTRENST00000581113ENST00000475166NF1chr17

29662049

+AGTR1chr3

148425731

+
3UTR-5UTRENST00000581113ENST00000349243NF1chr17

29662049

+AGTR1chr3

148425731

+
3UTR-5UTRENST00000581113ENST00000542281NF1chr17

29662049

+AGTR1chr3

148425731

+
3UTR-intronENST00000581113ENST00000402260NF1chr17

29662049

+AGTR1chr3

148425731

+
3UTR-intronENST00000581113ENST00000404754NF1chr17

29662049

+AGTR1chr3

148425731

+
3UTR-intronENST00000581113ENST00000418473NF1chr17

29662049

+AGTR1chr3

148425731

+
3UTR-intronENST00000581113ENST00000461609NF1chr17

29662049

+AGTR1chr3

148425731

+
3UTR-intronENST00000581113ENST00000474935NF1chr17

29662049

+AGTR1chr3

148425731

+
3UTR-intronENST00000581113ENST00000475347NF1chr17

29662049

+AGTR1chr3

148425731

+
3UTR-intronENST00000581113ENST00000497524NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-3UTRENST00000356175ENST00000475166NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-3UTRENST00000358273ENST00000475166NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-5UTRENST00000356175ENST00000349243NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-5UTRENST00000356175ENST00000542281NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-5UTRENST00000358273ENST00000349243NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-5UTRENST00000358273ENST00000542281NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-intronENST00000356175ENST00000402260NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-intronENST00000356175ENST00000404754NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-intronENST00000356175ENST00000418473NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-intronENST00000356175ENST00000461609NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-intronENST00000356175ENST00000474935NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-intronENST00000356175ENST00000475347NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-intronENST00000356175ENST00000497524NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-intronENST00000358273ENST00000402260NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-intronENST00000358273ENST00000404754NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-intronENST00000358273ENST00000418473NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-intronENST00000358273ENST00000461609NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-intronENST00000358273ENST00000474935NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-intronENST00000358273ENST00000475347NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-intronENST00000358273ENST00000497524NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-3UTRENST00000417592ENST00000475166NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-3UTRENST00000431387ENST00000475166NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-3UTRENST00000444181ENST00000475166NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-5UTRENST00000417592ENST00000349243NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-5UTRENST00000417592ENST00000542281NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-5UTRENST00000431387ENST00000349243NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-5UTRENST00000431387ENST00000542281NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-5UTRENST00000444181ENST00000349243NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-5UTRENST00000444181ENST00000542281NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000417592ENST00000402260NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000417592ENST00000404754NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000417592ENST00000418473NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000417592ENST00000461609NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000417592ENST00000474935NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000417592ENST00000475347NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000417592ENST00000497524NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000431387ENST00000402260NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000431387ENST00000404754NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000431387ENST00000418473NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000431387ENST00000461609NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000431387ENST00000474935NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000431387ENST00000475347NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000431387ENST00000497524NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000444181ENST00000402260NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000444181ENST00000404754NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000444181ENST00000418473NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000444181ENST00000461609NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000444181ENST00000474935NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000444181ENST00000475347NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000444181ENST00000497524NF1chr17

29662049

+AGTR1chr3

148425731

+

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

Top

Fusion Genomic Features for NF1-AGTR1


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)
NF1chr1729662049+AGTR1chr3148425730+0.098144290.9018557
NF1chr1729662049+AGTR1chr3148425730+0.098144290.9018557
NF1chr1729662049+AGTR1chr3148425730+0.098144290.9018557
NF1chr1729662049+AGTR1chr3148425730+0.098144290.9018557


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%

Top

Fusion Protein Features for NF1-AGTR1


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/:29662049/:148425731)
- 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
NF1

P21359

.
FUNCTION: Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity. {ECO:0000269|PubMed:2121371, ECO:0000269|PubMed:8417346}.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


Top

Fusion Gene Sequence for NF1-AGTR1


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.

Top

Fusion Gene PPI Analysis for NF1-AGTR1


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


Top

Related Drugs for NF1-AGTR1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for NF1-AGTR1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNF1C0027831Neurofibromatosis 144CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneNF1C1708353Hereditary Paraganglioma-Pheochromocytoma Syndrome10CLINGEN
HgeneNF1C0349639Juvenile Myelomonocytic Leukemia7CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneNF1C2931482Neurofibromatosis-Noonan syndrome6CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneNF1C0553586Cafe-au-lait macules with pulmonary stenosis5CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneNF1C0162678Neurofibromatoses3CGI;CTD_human;GENOMICS_ENGLAND
HgeneNF1C0004114Astrocytoma2CTD_human
HgeneNF1C0023467Leukemia, Myelocytic, Acute2CTD_human
HgeneNF1C0025202melanoma2CGI;CTD_human
HgeneNF1C0026998Acute Myeloid Leukemia, M12CTD_human
HgeneNF1C0205768Subependymal Giant Cell Astrocytoma2CTD_human
HgeneNF1C0206727Nerve Sheath Tumors2CTD_human
HgeneNF1C0280783Juvenile Pilocytic Astrocytoma2CTD_human
HgeneNF1C0280785Diffuse Astrocytoma2CTD_human
HgeneNF1C0334579Anaplastic astrocytoma2CTD_human
HgeneNF1C0334580Protoplasmic astrocytoma2CTD_human
HgeneNF1C0334581Gemistocytic astrocytoma2CTD_human
HgeneNF1C0334582Fibrillary Astrocytoma2CTD_human
HgeneNF1C0334583Pilocytic Astrocytoma2CTD_human
HgeneNF1C0338070Childhood Cerebral Astrocytoma2CTD_human
HgeneNF1C0547065Mixed oligoastrocytoma2CTD_human
HgeneNF1C0750935Cerebral Astrocytoma2CTD_human
HgeneNF1C0750936Intracranial Astrocytoma2CTD_human
HgeneNF1C0751689Peripheral Nerve Sheath Neoplasm2CTD_human
HgeneNF1C0751691Perineurioma2CTD_human
HgeneNF1C1704230Grade I Astrocytoma2CTD_human
HgeneNF1C1834235NEUROFIBROMATOSIS, FAMILIAL SPINAL2CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneNF1C1879321Acute Myeloid Leukemia (AML-M2)2CTD_human
HgeneNF1C0001430Adenoma1CTD_human
HgeneNF1C0004352Autistic Disorder1CTD_human
HgeneNF1C0016057Fibrosarcoma1CTD_human
HgeneNF1C0017636Glioblastoma1CTD_human
HgeneNF1C0017638Glioma1CGI;CTD_human
HgeneNF1C0020796Profound Mental Retardation1CTD_human
HgeneNF1C0023186Learning Disorders1CTD_human
HgeneNF1C0023827liposarcoma1CTD_human
HgeneNF1C0025363Mental Retardation, Psychosocial1CTD_human
HgeneNF1C0026654Moyamoya Disease1GENOMICS_ENGLAND
HgeneNF1C0027809Neurilemmoma1CTD_human
HgeneNF1C0027830neurofibroma1CTD_human
HgeneNF1C0027962Melanocytic nevus1CTD_human
HgeneNF1C0028326Noonan Syndrome1GENOMICS_ENGLAND
HgeneNF1C0031511Pheochromocytoma1CTD_human
HgeneNF1C0035320Retinal Neovascularization1CTD_human
HgeneNF1C0205646Adenoma, Basal Cell1CTD_human
HgeneNF1C0205647Follicular adenoma1CTD_human
HgeneNF1C0205648Adenoma, Microcystic1CTD_human
HgeneNF1C0205649Adenoma, Monomorphic1CTD_human
HgeneNF1C0205650Papillary adenoma1CTD_human
HgeneNF1C0205651Adenoma, Trabecular1CTD_human
HgeneNF1C0205824Liposarcoma, Dedifferentiated1CTD_human
HgeneNF1C0205825Liposarcoma, Pleomorphic1CTD_human
HgeneNF1C0205944Sarcoma, Epithelioid1CTD_human
HgeneNF1C0205945Sarcoma, Spindle Cell1CTD_human
HgeneNF1C0259783mixed gliomas1CTD_human
HgeneNF1C0334588Giant Cell Glioblastoma1CTD_human
HgeneNF1C0555198Malignant Glioma1CTD_human
HgeneNF1C0751262Adult Learning Disorders1CTD_human
HgeneNF1C0751263Learning Disturbance1CTD_human
HgeneNF1C0751265Learning Disabilities1CTD_human
HgeneNF1C0751374Schwannomatosis, Plexiform1CTD_human
HgeneNF1C0917816Mental deficiency1CTD_human
HgeneNF1C0917817Neurofibromatosis 31CTD_human
HgeneNF1C1257877Pheochromocytoma, Extra-Adrenal1CTD_human
HgeneNF1C1261473Sarcoma1CTD_human
HgeneNF1C1330966Developmental Academic Disorder1CTD_human
HgeneNF1C1370889Liposarcoma, well differentiated1CTD_human
HgeneNF1C1621958Glioblastoma Multiforme1CTD_human
HgeneNF1C3150928NF1 Microdeletion Syndrome1ORPHANET
HgeneNF1C3714756Intellectual Disability1CTD_human
TgeneC0020538Hypertensive disease4CTD_human
TgeneC0018801Heart failure3CTD_human
TgeneC0018802Congestive heart failure3CTD_human
TgeneC0023212Left-Sided Heart Failure3CTD_human
TgeneC0235527Heart Failure, Right-Sided3CTD_human
TgeneC0266313Allanson Pantzar McLeod syndrome3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC1959583Myocardial Failure3CTD_human
TgeneC1961112Heart Decompensation3CTD_human
TgeneC0013274Patent ductus arteriosus2CTD_human
TgeneC2678367Renal Tubular Dysgenesis With Choanal Atresia And Athelia2ORPHANET
TgeneC2936170Patent Ductus Arteriosus Familial2CTD_human
TgeneC0000786Spontaneous abortion1CTD_human
TgeneC0000822Abortion, Tubal1CTD_human
TgeneC0011884Diabetic Retinopathy1CTD_human
TgeneC0022658Kidney Diseases1CTD_human
TgeneC0027627Neoplasm Metastasis1CTD_human
TgeneC0032000Pituitary Adenoma1CTD_human
TgeneC0032019Pituitary Neoplasms1CTD_human
TgeneC0033687Proteinuria1CTD_human
TgeneC0085580Essential Hypertension1CTD_human;GENOMICS_ENGLAND
TgeneC0162871Aortic Aneurysm, Abdominal1CTD_human
TgeneC0346300Pituitary carcinoma1CTD_human
TgeneC0887833Carcinoma, Pancreatic Ductal1CTD_human
TgeneC3830362Early Pregnancy Loss1CTD_human
TgeneC4552766Miscarriage1CTD_human