Property Summary

NCBI Gene PubMed Count 371
Grant Count 862
R01 Count 415
Funding $122,358,944.54
PubMed Score 3833.12
PubTator Score 4359.22

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (61)

Disease Z-score Confidence
Neurofibromatosis 37 9.306 4.0
Cancer 2,346 5.704 2.9
Neurilemmoma 20 5.439 2.7
Scoliosis 40 5.083 2.5
Noonan Syndrome 33 4.939 2.5
Pulsating exophthalmos 1 4.239 2.1
Meningocele 8 4.208 2.1
Hemangioma 35 3.944 2.0
Persistent generalized lymphadenopathy 15 3.935 2.0
Exophthalmos 16 3.889 1.9
Moyamoya disease 9 3.775 1.9
Costello syndrome 16 3.761 1.9
Tuberous sclerosis 18 3.733 1.9
Learning disability 20 3.686 1.8
LEOPARD Syndrome 20 3.681 1.8
Juvenile xanthogranuloma 6 3.674 1.8
Phaeochromocytoma 20 3.613 1.8
Attention deficit hyperactivity disorder 156 3.571 1.8
Hydrocephalus 60 3.517 1.8
Intellectual disability 573 3.49 1.7
Ganglioglioma 16 3.037 1.5
Cardiofaciocutaneous syndrome 15 3.006 1.5
Adenoma 165
Autistic Disorder 320
Breast cancer 3,094 1.0
Cafe-au-lait macules with pulmonary sten... 2 
Carcinoma 2,147 1.0
Connective tissue cancer 9 1.0
DOID:2627 14 1.0
Fibrosarcoma 12
Glioma 65
Immune system cancer 38 1.0
Juvenile Myelomonocytic Leukemia 21
Kidney cancer 118 1.0
Learning Disorders 27
Leukemia, Myelocytic, Acute 113
Liposarcoma 20
Melanocytic nevus 2
Melanoma 261
NEUROFIBROMATOSIS, FAMILIAL SPINAL 1
NF1 Microdeletion Syndrome 1
Neoplastic Syndromes, Hereditary 48
Nerve Sheath Tumors 5
Neurofibroma 9 1.0
Neurofibromatoses 1
Neurofibromatosis 1 3
Neurofibromatosis-Noonan syndrome 2
Pheochromocytoma 22
Sarcoma 49
astrocytic glioma 2,241
astrocytoma 1,493
ependymoma 2,514
glioblastoma 5,572
lung adenocarcinoma 2,713
lung cancer 4,466
malignant mesothelioma 3,162
oligodendroglioma 2,849
osteosarcoma 7,933
ovarian cancer 8,484
psoriasis 6,685
subependymal giant cell astrocytoma 2,287

Expression

  Differential Expression (11)

Disease log2 FC p
malignant mesothelioma -1.100 0.000
astrocytic glioma 1.600 0.009
ependymoma 1.700 0.009
oligodendroglioma 1.600 0.014
psoriasis -1.500 0.011
osteosarcoma 2.925 0.000
lung cancer 1.500 0.011
subependymal giant cell astrocytoma -1.225 0.046
lung adenocarcinoma 1.079 0.000
Breast cancer -1.300 0.000
ovarian cancer 1.900 0.000

Synonym

Accession P21359 O00662 Q14284 Q14930 Q14931 Q9UMK3
Symbols WSS
NFNS
VRNF

Gene

NF1

PDB

1NF1   2D4Q   2E2X   3P7Z   3PEG   3PG7  

Gene RIF (284)

PMID Text
27060315 Novel 1948delT and 541C>T mutations in NF1 associated with sporadic neurofibromatosis type 1.
26969325 NF1 mutation is not associated with the risk of optic pathway glioma in Neurofibromatosis type 1 patients.
26962827 Thirty distinct NF1 mutations were identified in 32 patients. Thirteen mutations were novel and most were frameshift mutations (33.3%).
26861207 Neurofibromin mediates Ras deactivation.
26666878 Of the ten reported cases of NF1 due to R681X, one has presented with optic glioma and none with precocious puberty.
26635368 Data suggest SPRED1 EVH1 domain interacts with NF1 GRD domain [N-term. 16AA/C-term. 20AA of GTPase-activating protein-related domain]; SPRED1 EVH1 and NF1 GRD mutations observed in Legius syndrome reduce binding affinity between EVH1/GRD domains.
26555092 This study suggests that inactivating NF1 mutations outside the context of neurofibromatosis may be the oncogenic mechanism for a subset of sporadic gastrointestinal stromal tumors
26523645 Inactivation of neurofibromin 1 unlocked a latent oligodendrocyte lineage potential in adult neural stem cells.
26509978 The complexity of the splicing regulatory elements present in exon 9 is most likely responsible for the fact that mutations in this region represent 25% of all exonic changes that affect splicing in the NF1 gene.
26490262 Neurofibromin protein abundance and nuclear import are mechanistically linked to an error-free chromosome congression.
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AA Sequence

MAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINISKYKFSLVISGLTTILKNVNNMRI      1 - 70
FGEAAEKNLYLSQLIILDTLEKCLAGQPKDTMRLDETMLVKQLLPEICHFLHTCREGNQHAAELRNSASG     71 - 140
VLFSLSCNNFNAVFSRISTRLQELTVCSEDNVDVHDIELLQYINVDCAKLKRLLKETAFKFKALKKVAQL    141 - 210
AVINSLEKAFWNWVENYPDEFTKLYQIPQTDMAECAEKLFDLVDGFAESTKRKAAVWPLQIILLILCPEI    211 - 280
IQDISKDVVDENNMNKKLFLDSLRKALAGHGGSRQLTESAAIACVKLCKASTYINWEDNSVIFLLVQSMV    281 - 350
VDLKNLLFNPSKPFSRGSQPADVDLMIDCLVSCFRISPHNNQHFKICLAQNSPSTFHYVLVNSLHRIITN    351 - 420
SALDWWPKIDAVYCHSVELRNMFGETLHKAVQGCGAHPAIRMAPSLTFKEKVTSLKFKEKPTDLETRSYK    421 - 490
YLLLSMVKLIHADPKLLLCNPRKQGPETQGSTAELITGLVQLVPQSHMPEIAQEAMEALLVLHQLDSIDL    491 - 560
WNPDAPVETFWEISSQMLFYICKKLTSHQMLSSTEILKWLREILICRNKFLLKNKQADRSSCHFLLFYGV    561 - 630
GCDIPSSGNTSQMSMDHEELLRTPGASLRKGKGNSSMDSAAGCSGTPPICRQAQTKLEVALYMFLWNPDT    631 - 700
EAVLVAMSCFRHLCEEADIRCGVDEVSVHNLLPNYNTFMEFASVSNMMSTGRAALQKRVMALLRRIEHPT    701 - 770
AGNTEAWEDTHAKWEQATKLILNYPKAKMEDGQAAESLHKTIVKRRMSHVSGGGSIDLSDTDSLQEWINM    771 - 840
TGFLCALGGVCLQQRSNSGLATYSPPMGPVSERKGSMISVMSSEGNADTPVSKFMDRLLSLMVCNHEKVG    841 - 910
LQIRTNVKDLVGLELSPALYPMLFNKLKNTISKFFDSQGQVLLTDTNTQFVEQTIAIMKNLLDNHTEGSS    911 - 980
EHLGQASIETMMLNLVRYVRVLGNMVHAIQIKTKLCQLVEVMMARRDDLSFCQEMKFRNKMVEYLTDWVM    981 - 1050
GTSNQAADDDVKCLTRDLDQASMEAVVSLLAGLPLQPEEGDGVELMEAKSQLFLKYFTLFMNLLNDCSEV   1051 - 1120
EDESAQTGGRKRGMSRRLASLRHCTVLAMSNLLNANVDSGLMHSIGLGYHKDLQTRATFMEVLTKILQQG   1121 - 1190
TEFDTLAETVLADRFERLVELVTMMGDQGELPIAMALANVVPCSQWDELARVLVTLFDSRHLLYQLLWNM   1191 - 1260
FSKEVELADSMQTLFRGNSLASKIMTFCFKVYGATYLQKLLDPLLRIVITSSDWQHVSFEVDPTRLEPSE   1261 - 1330
SLEENQRNLLQMTEKFFHAIISSSSEFPPQLRSVCHCLYQATCHSLLNKATVKEKKENKKSVVSQRFPQN   1331 - 1400
SIGAVGSAMFLRFINPAIVSPYEAGILDKKPPPRIERGLKLMSKILQSIANHVLFTKEEHMRPFNDFVKS   1401 - 1470
NFDAARRFFLDIASDCPTSDAVNHSLSFISDGNVLALHRLLWNNQEKIGQYLSSNRDHKAVGRRPFDKMA   1471 - 1540
TLLAYLGPPEHKPVADTHWSSLNLTSSKFEEFMTRHQVHEKEEFKALKTLSIFYQAGTSKAGNPIFYYVA   1541 - 1610
RRFKTGQINGDLLIYHVLLTLKPYYAKPYEIVVDLTHTGPSNRFKTDFLSKWFVVFPGFAYDNVSAVYIY   1611 - 1680
NCNSWVREYTKYHERLLTGLKGSKRLVFIDCPGKLAEHIEHEQQKLPAATLALEEDLKVFHNALKLAHKD   1681 - 1750
TKVSIKVGSTAVQVTSAERTKVLGQSVFLNDIYYASEIEEICLVDENQFTLTIANQGTPLTFMHQECEAI   1751 - 1820
VQSIIHIRTRWELSQPDSIPQHTKIRPKDVPGTLLNIALLNLGSSDPSLRSAAYNLLCALTCTFNLKIEG   1821 - 1890
QLLETSGLCIPANNTLFIVSISKTLAANEPHLTLEFLEECISGFSKSSIELKHLCLEYMTPWLSNLVRFC   1891 - 1960
KHNDDAKRQRVTAILDKLITMTINEKQMYPSIQAKIWGSLGQITDLLDVVLDSFIKTSATGGLGSIKAEV   1961 - 2030
MADTAVALASGNVKLVSSKVIGRMCKIIDKTCLSPTPTLEQHLMWDDIAILARYMLMLSFNNSLDVAAHL   2031 - 2100
PYLFHVVTFLVATGPLSLRASTHGLVINIIHSLCTCSQLHFSEETKQVLRLSLTEFSLPKFYLLFGISKV   2101 - 2170
KSAAVIAFRSSYRDRSFSPGSYERETFALTSLETVTEALLEIMEACMRDIPTCKWLDQWTELAQRFAFQY   2171 - 2240
NPSLQPRALVVFGCISKRVSHGQIKQIIRILSKALESCLKGPDTYNSQVLIEATVIALTKLQPLLNKDSP   2241 - 2310
LHKALFWVAVAVLQLDEVNLYSAGTALLEQNLHTLDSLRIFNDKSPEEVFMAIRNPLEWHCKQMDHFVGL   2311 - 2380
NFNSNFNFALVGHLLKGYRHPSPAIVARTVRILHTLLTLVNKHRNCDKFEVNTQSVAYLAALLTVSEEVR   2381 - 2450
SRCSLKHRKSLLLTDISMENVPMDTYPIHHGDPSYRTLKETQPWSSPKGSEGYLAATYPTVGQTSPRARK   2451 - 2520
SMSLDMGQPSQANTKKLLGTRKSFDHLISDTKAPKRQEMESGITTPPKMRRVAETDYEMETQRISSSQQH   2521 - 2590
PHLRKVSVSESNVLLDEEVLTDPKIQALLLTVLATLVKYTTDEFDQRILYEYLAEASVVFPKVFPVVHNL   2591 - 2660
LDSKINTLLSLCQDPNLLNPIHGIVQSVVYHEESPPQYQTSYLQSFGFNGLWRFAGPFSKQTQIPDYAEL   2661 - 2730
IVKFLDALIDTYLPGIDEETSEESLLTPTSPYPPALQSQLSITANLNLSNSMTSLATSQHSPGIDKENVE   2731 - 2800
LSPTTGHCNSGRTRHGSASQVQKQRSAGSFKRNSIKKIV                                  2801 - 2839
//

Text Mined References (389)

PMID Year Title
27060315 2016 [Molecular analysis of two pediatric cases with sporadic neurofibromatosis type 1].
26969325 2016 No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients.
26962827 2016 Clinical and Molecular Characterization of NF1 Patients: Single-Center Experience of 32 Patients From China.
26861207 2016 Feedback activation of neurofibromin terminates growth factor-induced Ras activation.
26666878 2015 Optic glioma and precocious puberty in a girl with neurofibromatosis type 1 carrying an R681X mutation of NF1: case report and review of the literature.
26635368 2016 Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1.
26555092 2015 Somatic loss of function mutations in neurofibromin 1 and MYC associated factor X genes identified by exome-wide sequencing in a wild-type GIST case.
26523645 2015 Latent tri-lineage potential of adult hippocampal neural stem cells revealed by Nf1 inactivation.
26509978 2015 Functional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating Splicing.
26490262 2016 Nuclear import mechanism of neurofibromin for localization on the spindle and function in chromosome congression.
More...