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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: 24083

FusionGeneSummary for NF1_AGTR1

check button Fusion gene summary
Fusion gene informationFusion gene name: NF1_AGTR1
Fusion gene ID: 24083
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

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 date2018052720180527
UniProtAcc

P21359

P30556

Ensembl transtripts involved in fusion geneENST00000356175, ENST00000358273, 
ENST00000431387, ENST00000581113, 
ENST00000417592, ENST00000444181, 
ENST00000497524, ENST00000542281, 
ENST00000418473, ENST00000349243, 
ENST00000404754, ENST00000475166, 
ENST00000475347, ENST00000474935, 
ENST00000461609, ENST00000402260, 
Fusion gene scores* DoF score35 X 18 X 19=119701 X 1 X 1=1
# samples 461
** MAII scorelog2(46/11970*10)=-4.70164548088649
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/1*10)=3.32192809488736
Context

PubMed: NF1 [Title/Abstract] AND AGTR1 [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
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 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
TCGARVLUSCTCGA-92-8063-01ANF1chr17

29662049

+AGTR1chr3

148425731

+
* 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-intronENST00000356175ENST00000497524NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-5UTRENST00000356175ENST00000542281NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-intronENST00000356175ENST00000418473NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-5UTRENST00000356175ENST00000349243NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-intronENST00000356175ENST00000404754NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-3UTRENST00000356175ENST00000475166NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-intronENST00000356175ENST00000475347NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-intronENST00000356175ENST00000474935NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-intronENST00000356175ENST00000461609NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-intronENST00000356175ENST00000402260NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-intronENST00000358273ENST00000497524NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-5UTRENST00000358273ENST00000542281NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-intronENST00000358273ENST00000418473NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-5UTRENST00000358273ENST00000349243NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-intronENST00000358273ENST00000404754NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-3UTRENST00000358273ENST00000475166NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-intronENST00000358273ENST00000475347NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-intronENST00000358273ENST00000474935NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-intronENST00000358273ENST00000461609NF1chr17

29662049

+AGTR1chr3

148425731

+
5CDS-intronENST00000358273ENST00000402260NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000431387ENST00000497524NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-5UTRENST00000431387ENST00000542281NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000431387ENST00000418473NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-5UTRENST00000431387ENST00000349243NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000431387ENST00000404754NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-3UTRENST00000431387ENST00000475166NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000431387ENST00000475347NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000431387ENST00000474935NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000431387ENST00000461609NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000431387ENST00000402260NF1chr17

29662049

+AGTR1chr3

148425731

+
3UTR-intronENST00000581113ENST00000497524NF1chr17

29662049

+AGTR1chr3

148425731

+
3UTR-5UTRENST00000581113ENST00000542281NF1chr17

29662049

+AGTR1chr3

148425731

+
3UTR-intronENST00000581113ENST00000418473NF1chr17

29662049

+AGTR1chr3

148425731

+
3UTR-5UTRENST00000581113ENST00000349243NF1chr17

29662049

+AGTR1chr3

148425731

+
3UTR-intronENST00000581113ENST00000404754NF1chr17

29662049

+AGTR1chr3

148425731

+
3UTR-3UTRENST00000581113ENST00000475166NF1chr17

29662049

+AGTR1chr3

148425731

+
3UTR-intronENST00000581113ENST00000475347NF1chr17

29662049

+AGTR1chr3

148425731

+
3UTR-intronENST00000581113ENST00000474935NF1chr17

29662049

+AGTR1chr3

148425731

+
3UTR-intronENST00000581113ENST00000461609NF1chr17

29662049

+AGTR1chr3

148425731

+
3UTR-intronENST00000581113ENST00000402260NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000417592ENST00000497524NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-5UTRENST00000417592ENST00000542281NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000417592ENST00000418473NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-5UTRENST00000417592ENST00000349243NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000417592ENST00000404754NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-3UTRENST00000417592ENST00000475166NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000417592ENST00000475347NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000417592ENST00000474935NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000417592ENST00000461609NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000417592ENST00000402260NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000444181ENST00000497524NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-5UTRENST00000444181ENST00000542281NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000444181ENST00000418473NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-5UTRENST00000444181ENST00000349243NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000444181ENST00000404754NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-3UTRENST00000444181ENST00000475166NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000444181ENST00000475347NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000444181ENST00000474935NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000444181ENST00000461609NF1chr17

29662049

+AGTR1chr3

148425731

+
intron-intronENST00000444181ENST00000402260NF1chr17

29662049

+AGTR1chr3

148425731

+

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FusionProtFeatures for NF1_AGTR1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NF1

P21359

AGTR1

P30556

Stimulates the GTPase activity of Ras. NF1 shows greateraffinity for Ras GAP, but lower specific activity. May be aregulator of Ras activity. {ECO:0000269|PubMed:2121371,ECO:0000269|PubMed:8417346}. Receptor for angiotensin II. Mediates its action byassociation with G proteins that activate a phosphatidylinositol-calcium second messenger system.

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 NF1_AGTR1


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 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
NF1HRAS, SMARCA4, POLR2A, TIRAP, SIRT7, VCP, NSFL1C, CAV1, YWHAB, FAF2, NXF1, CCDC8, HLA-DPA1, EFNB2, CD274, TNFSF13B, CA14, SLAMF1, VSIG4, TGOLN2, HTR6, NOSIP, KRAS, CLK1, CDC5L, APP, YWHAH, PML, TRAF6, PTEN, SDC2, EGFR, CD79B, P4HA3, SCN3B, VSIG1, SIGLECL1, EPHA1, FAM174A, KCTD3, KIF13B, ZBTB21, KSR1, CGN, GIGYF1, LRFN1, RTKN, MAST3, DENND1A, SH3PXD2A, SRGAP2, DENND4C, PPM1H, EIF4E2, SIPA1L1, LIMA1, RALGPS2, MAGI1, CBY1, TESK2, CDC25C, DCLK1, GIGYF2, HDAC4, LPIN3, ZNF638, CAMSAP2, NADK, MAPKAP1, SRSF12, RASAL2, SYDE1, KIAA1804, TIAM1, AGAP1, CDC25B, CDK16, SH3RF3, PHLDB2, PLEKHA7, KIF1C, OSBPL6, FAM110B, USP21, NAV1, TANC2, PTPN13, FAM53C, ANKRD34A, STARD13, PTPN14, GAB2, DENND4A, INPP5E, TOP1, TOP2A, TOP3A, NRASAGTR1ADRBK1, GRK5, RAB5A, BDKRB2, AGTRAP, MAPK1, ARRB2, JAK2, ARRB1, HTR2B, GNB2L1, PDE6H, VKORC1L1, ATP12A, ATP2B4, ATP2B3, PIGU, CLCC1, THOC7, SETD7, SLC6A8, ALG10, CAV1, SLC19A2, C1orf112, TMEM11, TSPAN15, RAF1, PTGFR, PTGS2, DCX


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

RelatedDrugs for NF1_AGTR1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneAGTR1P30556DB00678LosartanType-1 angiotensin II receptorsmall moleculeapproved
TgeneAGTR1P30556DB00876EprosartanType-1 angiotensin II receptorsmall moleculeapproved
TgeneAGTR1P30556DB01349TasosartanType-1 angiotensin II receptorsmall moleculeapproved
TgeneAGTR1P30556DB00177ValsartanType-1 angiotensin II receptorsmall moleculeapproved|investigational
TgeneAGTR1P30556DB00275OlmesartanType-1 angiotensin II receptorsmall moleculeapproved|investigational
TgeneAGTR1P30556DB00966TelmisartanType-1 angiotensin II receptorsmall moleculeapproved|investigational
TgeneAGTR1P30556DB01029IrbesartanType-1 angiotensin II receptorsmall moleculeapproved|investigational
TgeneAGTR1P30556DB08822Azilsartan medoxomilType-1 angiotensin II receptorsmall moleculeapproved|investigational
TgeneAGTR1P30556DB09279FimasartanType-1 angiotensin II receptorsmall moleculeapproved|investigational

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RelatedDiseases for NF1_AGTR1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNF1C0027831Neurofibromatosis 134CTD_human;ORPHANET;UNIPROT
HgeneNF1C2931482Neurofibromatosis-Noonan syndrome5CTD_human;ORPHANET;UNIPROT
HgeneNF1C0349639Juvenile Myelomonocytic Leukemia3CTD_human;HPO;ORPHANET
HgeneNF1C0004114Astrocytoma2CTD_human;HPO
HgeneNF1C0023467Leukemia, Myelocytic, Acute2CTD_human
HgeneNF1C0025202melanoma2CTD_human
HgeneNF1C0206727Nerve Sheath Tumors2CTD_human
HgeneNF1C0001430Adenoma1CTD_human
HgeneNF1C0004352Autistic Disorder1CTD_human
HgeneNF1C0016057Fibrosarcoma1CTD_human
HgeneNF1C0017636Glioblastoma1CTD_human
HgeneNF1C0017638Glioma1CTD_human
HgeneNF1C0023186Learning Disorders1CTD_human
HgeneNF1C0023827liposarcoma1CTD_human
HgeneNF1C0027809Neurilemmoma1CTD_human
HgeneNF1C0027830neurofibroma1CTD_human
HgeneNF1C0027962Melanocytic nevus1CTD_human
HgeneNF1C0031511Pheochromocytoma1CTD_human
HgeneNF1C0162678Neurofibromatoses1CTD_human;HPO
HgeneNF1C1261473Sarcoma1CTD_human
HgeneNF1C1834235NEUROFIBROMATOSIS, FAMILIAL SPINAL1CTD_human;UNIPROT
HgeneNF1C3714756Intellectual Disability1CTD_human;HPO
TgeneAGTR1C0020538Hypertensive disease4CTD_human
TgeneAGTR1C0018801Heart failure3CTD_human
TgeneAGTR1C0013274Patent ductus arteriosus2CTD_human
TgeneAGTR1C0000786Spontaneous abortion1CTD_human
TgeneAGTR1C0011884Diabetic Retinopathy1CTD_human
TgeneAGTR1C0022658Kidney Diseases1CTD_human
TgeneAGTR1C0027627Neoplasm Metastasis1CTD_human
TgeneAGTR1C0032019Pituitary Neoplasms1CTD_human
TgeneAGTR1C0033687Proteinuria1CTD_human
TgeneAGTR1C0162871Aortic Aneurysm, Abdominal1CTD_human
TgeneAGTR1C0266313Allanson Pantzar McLeod syndrome1CTD_human;HPO;ORPHANET;UNIPROT
TgeneAGTR1C0887833Carcinoma, Pancreatic Ductal1CTD_human