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Fusion gene ID: 24083 |
FusionGeneSummary for NF1_AGTR1 |
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Fusion gene information | Fusion gene name: NF1_AGTR1 | Fusion gene ID: 24083 | Hgene | Tgene | Gene symbol | NF1 | AGTR1 | Gene ID | 4763 | 185 |
Gene name | neurofibromin 1 | angiotensin II receptor type 1 | |
Synonyms | NFNS|VRNF|WSS | AG2S|AGTR1B|AT1|AT1AR|AT1B|AT1BR|AT1R|AT2R1|HAT1R | |
Cytomap | 17q11.2 | 3q24 | |
Type of gene | protein-coding | protein-coding | |
Description | neurofibrominneurofibromatosis 1neurofibromatosis-related protein NF-1truncated neurofibromin 1 | type-1 angiotensin II receptortype-1B angiotensin II receptor | |
Modification date | 20180527 | 20180527 | |
UniProtAcc | P21359 | P30556 | |
Ensembl transtripts involved in fusion gene | ENST00000356175, ENST00000358273, ENST00000431387, ENST00000581113, ENST00000417592, ENST00000444181, | ENST00000497524, ENST00000542281, ENST00000418473, ENST00000349243, ENST00000404754, ENST00000475166, ENST00000475347, ENST00000474935, ENST00000461609, ENST00000402260, | |
Fusion gene scores | * DoF score | 35 X 18 X 19=11970 | 1 X 1 X 1=1 |
# samples | 46 | 1 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | NF1 | GO:0043547 | positive regulation of GTPase activity | 2121371 |
Tgene | AGTR1 | GO:0007186 | G-protein coupled receptor signaling pathway | 1378723 |
Tgene | AGTR1 | GO:0007204 | positive regulation of cytosolic calcium ion concentration | 1567413 |
Tgene | AGTR1 | GO:0007266 | Rho protein signal transduction | 15611106 |
Tgene | AGTR1 | GO:0019229 | regulation of vasoconstriction | 15117835 |
Tgene | AGTR1 | GO:0019722 | calcium-mediated signaling | 1567413 |
Tgene | AGTR1 | GO:0038166 | angiotensin-activated signaling pathway | 1567413 |
Tgene | AGTR1 | GO:0051482 | positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway | 1567413 |
Tgene | AGTR1 | GO:0060326 | cell chemotaxis | 15635042 |
Tgene | AGTR1 | GO:0086097 | phospholipase C-activating angiotensin-activated signaling pathway | 1378723 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | LUSC | TCGA-92-8063-01A | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5CDS-intron | ENST00000356175 | ENST00000497524 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
5CDS-5UTR | ENST00000356175 | ENST00000542281 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
5CDS-intron | ENST00000356175 | ENST00000418473 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
5CDS-5UTR | ENST00000356175 | ENST00000349243 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
5CDS-intron | ENST00000356175 | ENST00000404754 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
5CDS-3UTR | ENST00000356175 | ENST00000475166 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
5CDS-intron | ENST00000356175 | ENST00000475347 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
5CDS-intron | ENST00000356175 | ENST00000474935 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
5CDS-intron | ENST00000356175 | ENST00000461609 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
5CDS-intron | ENST00000356175 | ENST00000402260 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
5CDS-intron | ENST00000358273 | ENST00000497524 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
5CDS-5UTR | ENST00000358273 | ENST00000542281 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
5CDS-intron | ENST00000358273 | ENST00000418473 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
5CDS-5UTR | ENST00000358273 | ENST00000349243 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
5CDS-intron | ENST00000358273 | ENST00000404754 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
5CDS-3UTR | ENST00000358273 | ENST00000475166 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
5CDS-intron | ENST00000358273 | ENST00000475347 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
5CDS-intron | ENST00000358273 | ENST00000474935 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
5CDS-intron | ENST00000358273 | ENST00000461609 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
5CDS-intron | ENST00000358273 | ENST00000402260 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
intron-intron | ENST00000431387 | ENST00000497524 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
intron-5UTR | ENST00000431387 | ENST00000542281 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
intron-intron | ENST00000431387 | ENST00000418473 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
intron-5UTR | ENST00000431387 | ENST00000349243 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
intron-intron | ENST00000431387 | ENST00000404754 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
intron-3UTR | ENST00000431387 | ENST00000475166 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
intron-intron | ENST00000431387 | ENST00000475347 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
intron-intron | ENST00000431387 | ENST00000474935 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
intron-intron | ENST00000431387 | ENST00000461609 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
intron-intron | ENST00000431387 | ENST00000402260 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
3UTR-intron | ENST00000581113 | ENST00000497524 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
3UTR-5UTR | ENST00000581113 | ENST00000542281 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
3UTR-intron | ENST00000581113 | ENST00000418473 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
3UTR-5UTR | ENST00000581113 | ENST00000349243 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
3UTR-intron | ENST00000581113 | ENST00000404754 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
3UTR-3UTR | ENST00000581113 | ENST00000475166 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
3UTR-intron | ENST00000581113 | ENST00000475347 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
3UTR-intron | ENST00000581113 | ENST00000474935 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
3UTR-intron | ENST00000581113 | ENST00000461609 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
3UTR-intron | ENST00000581113 | ENST00000402260 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
intron-intron | ENST00000417592 | ENST00000497524 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
intron-5UTR | ENST00000417592 | ENST00000542281 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
intron-intron | ENST00000417592 | ENST00000418473 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
intron-5UTR | ENST00000417592 | ENST00000349243 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
intron-intron | ENST00000417592 | ENST00000404754 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
intron-3UTR | ENST00000417592 | ENST00000475166 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
intron-intron | ENST00000417592 | ENST00000475347 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
intron-intron | ENST00000417592 | ENST00000474935 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
intron-intron | ENST00000417592 | ENST00000461609 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
intron-intron | ENST00000417592 | ENST00000402260 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
intron-intron | ENST00000444181 | ENST00000497524 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
intron-5UTR | ENST00000444181 | ENST00000542281 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
intron-intron | ENST00000444181 | ENST00000418473 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
intron-5UTR | ENST00000444181 | ENST00000349243 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
intron-intron | ENST00000444181 | ENST00000404754 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
intron-3UTR | ENST00000444181 | ENST00000475166 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
intron-intron | ENST00000444181 | ENST00000475347 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
intron-intron | ENST00000444181 | ENST00000474935 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
intron-intron | ENST00000444181 | ENST00000461609 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
intron-intron | ENST00000444181 | ENST00000402260 | NF1 | chr17 | 29662049 | + | AGTR1 | chr3 | 148425731 | + |
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FusionProtFeatures for NF1_AGTR1 |
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Hgene | Tgene |
NF1 | AGTR1 |
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. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for NF1_AGTR1 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
NF1 | HRAS, 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, NRAS | AGTR1 | ADRBK1, 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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for NF1_AGTR1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | AGTR1 | P30556 | DB00678 | Losartan | Type-1 angiotensin II receptor | small molecule | approved |
Tgene | AGTR1 | P30556 | DB00876 | Eprosartan | Type-1 angiotensin II receptor | small molecule | approved |
Tgene | AGTR1 | P30556 | DB01349 | Tasosartan | Type-1 angiotensin II receptor | small molecule | approved |
Tgene | AGTR1 | P30556 | DB00177 | Valsartan | Type-1 angiotensin II receptor | small molecule | approved|investigational |
Tgene | AGTR1 | P30556 | DB00275 | Olmesartan | Type-1 angiotensin II receptor | small molecule | approved|investigational |
Tgene | AGTR1 | P30556 | DB00966 | Telmisartan | Type-1 angiotensin II receptor | small molecule | approved|investigational |
Tgene | AGTR1 | P30556 | DB01029 | Irbesartan | Type-1 angiotensin II receptor | small molecule | approved|investigational |
Tgene | AGTR1 | P30556 | DB08822 | Azilsartan medoxomil | Type-1 angiotensin II receptor | small molecule | approved|investigational |
Tgene | AGTR1 | P30556 | DB09279 | Fimasartan | Type-1 angiotensin II receptor | small molecule | approved|investigational |
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RelatedDiseases for NF1_AGTR1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | NF1 | C0027831 | Neurofibromatosis 1 | 34 | CTD_human;ORPHANET;UNIPROT |
Hgene | NF1 | C2931482 | Neurofibromatosis-Noonan syndrome | 5 | CTD_human;ORPHANET;UNIPROT |
Hgene | NF1 | C0349639 | Juvenile Myelomonocytic Leukemia | 3 | CTD_human;HPO;ORPHANET |
Hgene | NF1 | C0004114 | Astrocytoma | 2 | CTD_human;HPO |
Hgene | NF1 | C0023467 | Leukemia, Myelocytic, Acute | 2 | CTD_human |
Hgene | NF1 | C0025202 | melanoma | 2 | CTD_human |
Hgene | NF1 | C0206727 | Nerve Sheath Tumors | 2 | CTD_human |
Hgene | NF1 | C0001430 | Adenoma | 1 | CTD_human |
Hgene | NF1 | C0004352 | Autistic Disorder | 1 | CTD_human |
Hgene | NF1 | C0016057 | Fibrosarcoma | 1 | CTD_human |
Hgene | NF1 | C0017636 | Glioblastoma | 1 | CTD_human |
Hgene | NF1 | C0017638 | Glioma | 1 | CTD_human |
Hgene | NF1 | C0023186 | Learning Disorders | 1 | CTD_human |
Hgene | NF1 | C0023827 | liposarcoma | 1 | CTD_human |
Hgene | NF1 | C0027809 | Neurilemmoma | 1 | CTD_human |
Hgene | NF1 | C0027830 | neurofibroma | 1 | CTD_human |
Hgene | NF1 | C0027962 | Melanocytic nevus | 1 | CTD_human |
Hgene | NF1 | C0031511 | Pheochromocytoma | 1 | CTD_human |
Hgene | NF1 | C0162678 | Neurofibromatoses | 1 | CTD_human;HPO |
Hgene | NF1 | C1261473 | Sarcoma | 1 | CTD_human |
Hgene | NF1 | C1834235 | NEUROFIBROMATOSIS, FAMILIAL SPINAL | 1 | CTD_human;UNIPROT |
Hgene | NF1 | C3714756 | Intellectual Disability | 1 | CTD_human;HPO |
Tgene | AGTR1 | C0020538 | Hypertensive disease | 4 | CTD_human |
Tgene | AGTR1 | C0018801 | Heart failure | 3 | CTD_human |
Tgene | AGTR1 | C0013274 | Patent ductus arteriosus | 2 | CTD_human |
Tgene | AGTR1 | C0000786 | Spontaneous abortion | 1 | CTD_human |
Tgene | AGTR1 | C0011884 | Diabetic Retinopathy | 1 | CTD_human |
Tgene | AGTR1 | C0022658 | Kidney Diseases | 1 | CTD_human |
Tgene | AGTR1 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
Tgene | AGTR1 | C0032019 | Pituitary Neoplasms | 1 | CTD_human |
Tgene | AGTR1 | C0033687 | Proteinuria | 1 | CTD_human |
Tgene | AGTR1 | C0162871 | Aortic Aneurysm, Abdominal | 1 | CTD_human |
Tgene | AGTR1 | C0266313 | Allanson Pantzar McLeod syndrome | 1 | CTD_human;HPO;ORPHANET;UNIPROT |
Tgene | AGTR1 | C0887833 | Carcinoma, Pancreatic Ductal | 1 | CTD_human |