Associated with
Cells (max top 100)
(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)
- Cell Name: polychromatophilic erythroblast (CL0000550)
Fold Change: 672.3768
Cell Significance Index: -104.5900 - Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
Fold Change: 403.4799
Cell Significance Index: -102.3400 - Cell Name: embryonic stem cell (CL0002322)
Fold Change: 244.8127
Cell Significance Index: -100.8500 - Cell Name: smooth muscle fiber of ileum (CL1000278)
Fold Change: 222.2516
Cell Significance Index: -104.9300 - Cell Name: mucosal type mast cell (CL0000485)
Fold Change: 202.2365
Cell Significance Index: -82.1600 - Cell Name: peripheral blood mononuclear cell (CL2000001)
Fold Change: 186.9805
Cell Significance Index: -96.1800 - Cell Name: ciliated cell of the bronchus (CL0002332)
Fold Change: 86.0860
Cell Significance Index: -82.1900 - Cell Name: orthochromatic erythroblast (CL0000552)
Fold Change: 85.2991
Cell Significance Index: -105.1700 - Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
Fold Change: 36.7600
Cell Significance Index: -98.4800 - Cell Name: stromal cell of bone marrow (CL0010001)
Fold Change: 26.7229
Cell Significance Index: -105.4500 - Cell Name: epidermal Langerhans cell (CL0002457)
Fold Change: 26.4006
Cell Significance Index: -57.7800 - Cell Name: basal epithelial cell of prostatic duct (CL0002236)
Fold Change: 5.3860
Cell Significance Index: 47.8100 - Cell Name: retinal progenitor cell (CL0002672)
Fold Change: 5.0783
Cell Significance Index: 284.9700 - Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 3.2399
Cell Significance Index: 1162.1000 - Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: 3.2058
Cell Significance Index: 89.5900 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 3.0872
Cell Significance Index: 236.9100 - Cell Name: preadipocyte (CL0002334)
Fold Change: 2.9994
Cell Significance Index: 58.5400 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 2.9022
Cell Significance Index: 582.1700 - Cell Name: forebrain neuroblast (CL1000042)
Fold Change: 2.8270
Cell Significance Index: 173.7600 - Cell Name: neoplastic cell (CL0001063)
Fold Change: 2.7279
Cell Significance Index: 541.3700 - Cell Name: GABAergic interneuron (CL0011005)
Fold Change: 2.6462
Cell Significance Index: 1830.2100 - Cell Name: cortical interneuron (CL0008031)
Fold Change: 2.4885
Cell Significance Index: 59.6800 - Cell Name: placental villous trophoblast (CL2000060)
Fold Change: 2.3272
Cell Significance Index: 62.1400 - Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: 2.1695
Cell Significance Index: 95.9600 - Cell Name: leptomeningeal cell (CL0000708)
Fold Change: 2.1176
Cell Significance Index: 45.2700 - Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: 2.0405
Cell Significance Index: 77.2700 - Cell Name: hippocampal granule cell (CL0001033)
Fold Change: 1.4873
Cell Significance Index: 100.0100 - Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 1.1731
Cell Significance Index: 190.7900 - Cell Name: hippocampal pyramidal neuron (CL1001571)
Fold Change: 1.0818
Cell Significance Index: 30.8700 - Cell Name: basal cell of urothelium (CL1000486)
Fold Change: 0.9772
Cell Significance Index: 120.1600 - Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: 0.9759
Cell Significance Index: 175.9300 - Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.9405
Cell Significance Index: 102.3000 - Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.7650
Cell Significance Index: 22.0400 - Cell Name: lens epithelial cell (CL0002224)
Fold Change: 0.7227
Cell Significance Index: 1112.6200 - Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.6667
Cell Significance Index: 602.0200 - Cell Name: cerebellar granule cell (CL0001031)
Fold Change: 0.6133
Cell Significance Index: 10.5100 - Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 0.6065
Cell Significance Index: 1142.0600 - Cell Name: anterior lens cell (CL0002223)
Fold Change: 0.6011
Cell Significance Index: 1108.6100 - Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: 0.5867
Cell Significance Index: 15.0800 - Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: 0.5342
Cell Significance Index: 339.2900 - Cell Name: cell in vitro (CL0001034)
Fold Change: 0.5134
Cell Significance Index: 280.3700 - Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 0.4986
Cell Significance Index: 22.6000 - Cell Name: lung endothelial cell (CL1001567)
Fold Change: 0.3895
Cell Significance Index: 20.2900 - Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: 0.3848
Cell Significance Index: 170.1100 - Cell Name: ciliary muscle cell (CL1000443)
Fold Change: 0.3652
Cell Significance Index: 165.7700 - Cell Name: secondary lens fiber (CL0002225)
Fold Change: 0.2986
Cell Significance Index: 405.9800 - Cell Name: cardiac endothelial cell (CL0010008)
Fold Change: 0.2093
Cell Significance Index: 3.0100 - Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.2089
Cell Significance Index: 7.3400 - Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 0.1402
Cell Significance Index: 19.2500 - Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: 0.0002
Cell Significance Index: 0.0100 - Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0449
Cell Significance Index: -33.2300 - Cell Name: pancreatic PP cell (CL0002275)
Fold Change: -0.0601
Cell Significance Index: -37.5600 - Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: -0.0656
Cell Significance Index: -11.2100 - Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: -0.0767
Cell Significance Index: -56.2000 - Cell Name: fibroblast of cardiac tissue (CL0002548)
Fold Change: -0.1163
Cell Significance Index: -1.6700 - Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.1242
Cell Significance Index: -94.0000 - Cell Name: Purkinje cell (CL0000121)
Fold Change: -0.1315
Cell Significance Index: -2.8800 - Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.1447
Cell Significance Index: -81.6000 - Cell Name: colon goblet cell (CL0009039)
Fold Change: -0.1469
Cell Significance Index: -14.5300 - Cell Name: odontoblast (CL0000060)
Fold Change: -0.1476
Cell Significance Index: -18.9200 - Cell Name: skeletal muscle fibroblast (CL0011027)
Fold Change: -0.1653
Cell Significance Index: -1.1200 - Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: -0.2136
Cell Significance Index: -9.9600 - Cell Name: bladder urothelial cell (CL1001428)
Fold Change: -0.2179
Cell Significance Index: -11.3200 - Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: -0.2367
Cell Significance Index: -45.0400 - Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.2878
Cell Significance Index: -41.8400 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.3146
Cell Significance Index: -90.5200 - Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.3364
Cell Significance Index: -70.8600 - Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: -0.3946
Cell Significance Index: -46.5300 - Cell Name: lactocyte (CL0002325)
Fold Change: -0.4611
Cell Significance Index: -59.5800 - Cell Name: abnormal cell (CL0001061)
Fold Change: -0.4641
Cell Significance Index: -47.4100 - Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.5218
Cell Significance Index: -54.3300 - Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: -0.5304
Cell Significance Index: -33.4300 - Cell Name: endothelial cell of placenta (CL0009092)
Fold Change: -0.5462
Cell Significance Index: -3.3000 - Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.5640
Cell Significance Index: -64.6200 - Cell Name: epithelial cell of prostate (CL0002231)
Fold Change: -0.6046
Cell Significance Index: -3.7300 - Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: -0.6219
Cell Significance Index: -72.4800 - Cell Name: cardiac muscle cell (CL0000746)
Fold Change: -0.6550
Cell Significance Index: -9.6700 - Cell Name: sebum secreting cell (CL0000317)
Fold Change: -0.6646
Cell Significance Index: -47.0000 - Cell Name: pancreatic endocrine cell (CL0008024)
Fold Change: -0.7590
Cell Significance Index: -86.6400 - Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: -0.7594
Cell Significance Index: -56.6000 - Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: -0.8697
Cell Significance Index: -23.3100 - Cell Name: early pro-B cell (CL0002046)
Fold Change: -0.9154
Cell Significance Index: -59.0600 - Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
Fold Change: -0.9950
Cell Significance Index: -18.3900 - Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: -1.0167
Cell Significance Index: -21.0900 - Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: -1.0340
Cell Significance Index: -28.1500 - Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: -1.0985
Cell Significance Index: -87.0100 - Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: -1.1708
Cell Significance Index: -24.8500 - Cell Name: glycinergic neuron (CL1001509)
Fold Change: -1.1961
Cell Significance Index: -62.8000 - Cell Name: Hofbauer cell (CL3000001)
Fold Change: -1.1969
Cell Significance Index: -9.7600 - Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: -1.2259
Cell Significance Index: -24.2400 - Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: -1.2449
Cell Significance Index: -31.1200 - Cell Name: retinal rod cell (CL0000604)
Fold Change: -1.4521
Cell Significance Index: -17.3100 - Cell Name: centrilobular region hepatocyte (CL0019029)
Fold Change: -1.4592
Cell Significance Index: -24.5800 - Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: -1.4644
Cell Significance Index: -19.9800 - Cell Name: periportal region hepatocyte (CL0019026)
Fold Change: -1.4919
Cell Significance Index: -22.0200 - Cell Name: intestinal tuft cell (CL0019032)
Fold Change: -1.5220
Cell Significance Index: -93.3100 - Cell Name: OFF midget ganglion cell (CL4033047)
Fold Change: -1.5510
Cell Significance Index: -19.3400 - Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: -1.6436
Cell Significance Index: -53.8100 - Cell Name: corneal endothelial cell (CL0000132)
Fold Change: -1.6545
Cell Significance Index: -25.1700 - Cell Name: type I muscle cell (CL0002211)
Fold Change: -1.6623
Cell Significance Index: -40.5600
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Other Information
Genular Protein ID: 3468945561
Symbol: NF1_HUMAN
Name: Neurofibromin
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 1457041
Title: Complete human NF1 cDNA sequence: two alternatively spliced mRNAs and absence of expression in a neuroblastoma line.
PubMed ID: 1457041
PubMed ID: 2134734
Title: Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients.
PubMed ID: 2134734
PubMed ID: 2125369
Title:
PubMed ID: 2125369
PubMed ID: 1783401
Title: cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product.
PubMed ID: 1783401
PubMed ID: 1339276
Title: Molecular cloning of a cDNA coding for neurofibromatosis type 1 protein isoform lacking the domain related to ras GTPase-activating protein.
PubMed ID: 1339276
PubMed ID: 7570581
Title: Evidence for the presence of two amino-terminal isoforms of neurofibromin, a gene product responsible for neurofibromatosis type 1.
PubMed ID: 7570581
DOI: 10.1620/tjem.175.225
PubMed ID: 16625196
Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
PubMed ID: 16625196
DOI: 10.1038/nature04689
PubMed ID: 2114220
Title: A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations.
PubMed ID: 2114220
PubMed ID: 2116237
Title: The neurofibromatosis type 1 gene encodes a protein related to GAP.
PubMed ID: 2116237
PubMed ID: 9002664
Title: Emergence and scattering of multiple neurofibromatosis (NF1)-related sequences during hominoid evolution suggest a process of pericentromeric interchromosomal transposition.
PubMed ID: 9002664
DOI: 10.1093/hmg/6.1.9
PubMed ID: 7774960
Title: Genomic organization of the neurofibromatosis 1 gene (NF1).
PubMed ID: 7774960
PubMed ID: 2121370
Title: The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21.
PubMed ID: 2121370
PubMed ID: 1923522
Title: Differential expression of two types of the neurofibromatosis type 1 (NF1) gene transcripts related to neuronal differentiation.
PubMed ID: 1923522
PubMed ID: 8417346
Title: A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity.
PubMed ID: 8417346
PubMed ID: 1662505
Title: Brain tumors predominantly express the neurofibromatosis type 1 gene transcripts containing the 63 base insert in the region coding for GTPase activating protein-related domain.
PubMed ID: 1662505
PubMed ID: 2121371
Title: The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins.
PubMed ID: 2121371
PubMed ID: 8602361
Title: The neurofibromatosis type I messenger RNA undergoes base-modification RNA editing.
PubMed ID: 8602361
DOI: 10.1093/nar/24.3.478
PubMed ID: 11727199
Title: C-->U editing of neurofibromatosis 1 mRNA occurs in tumors that express both the type II transcript and apobec-1, the catalytic subunit of the apolipoprotein B mRNA-editing enzyme.
PubMed ID: 11727199
DOI: 10.1086/337952
PubMed ID: 7981724
Title: Molecular basis of neurofibromatosis type 1 (NF1): mutation analysis and polymorphisms in the NF1 gene.
PubMed ID: 7981724
PubMed ID: 8825042
Title: Molecular genetics of neurofibromatosis type 1 (NF1).
PubMed ID: 8825042
DOI: 10.1136/jmg.33.1.2
PubMed ID: 14988005
Title: Neurofibromin is actively transported to the nucleus.
PubMed ID: 14988005
PubMed ID: 18220336
Title: Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.
PubMed ID: 18220336
DOI: 10.1021/pr0705441
PubMed ID: 18691976
Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
PubMed ID: 18691976
PubMed ID: 18669648
Title: A quantitative atlas of mitotic phosphorylation.
PubMed ID: 18669648
PubMed ID: 19413330
Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
PubMed ID: 19413330
DOI: 10.1021/ac9004309
PubMed ID: 19369195
Title: Large-scale proteomics analysis of the human kinome.
PubMed ID: 19369195
PubMed ID: 19690332
Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
PubMed ID: 19690332
PubMed ID: 20068231
Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
PubMed ID: 20068231
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 21406692
Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
PubMed ID: 21406692
PubMed ID: 23027611
Title: 5-HT(6) receptor recruitment of mTOR as a mechanism for perturbed cognition in schizophrenia.
PubMed ID: 23027611
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
DOI: 10.1021/pr300630k
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 34626534
Title: SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.
PubMed ID: 34626534
PubMed ID: 9687500
Title: Structural analysis of the GAP-related domain from neurofibromin and its implications.
PubMed ID: 9687500
PubMed ID: 16397625
Title: A novel bipartite phospholipid-binding module in the neurofibromatosis type 1 protein.
PubMed ID: 16397625
PubMed ID: 17187824
Title: The sec14 homology module of neurofibromin binds cellular glycerophospholipids: mass spectrometry and structure of a lipid complex.
PubMed ID: 17187824
PubMed ID: 21089070
Title: Structural and biochemical consequences of NF1 associated nontruncating mutations in the Sec14-PH module of neurofibromin.
PubMed ID: 21089070
DOI: 10.1002/humu.21405
PubMed ID: 1568247
Title: Somatic mutations in the neurofibromatosis 1 gene in human tumors.
PubMed ID: 1568247
PubMed ID: 1302608
Title: Analysis of mutations at the neurofibromatosis 1 (NF1) locus.
PubMed ID: 1302608
DOI: 10.1093/hmg/1.9.735
PubMed ID: 8317503
Title: Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome.
PubMed ID: 8317503
PubMed ID: 7904209
Title: Neurofibromatosis type 1 (NF1): the search for mutations by PCR-heteroduplex analysis on Hydrolink gels.
PubMed ID: 7904209
PubMed ID: 7981679
Title: Characterisation of inherited and sporadic mutations in neurofibromatosis type-1.
PubMed ID: 7981679
DOI: 10.1093/hmg/3.7.1109
PubMed ID: 8081387
Title: Two NF1 mutations: frameshift in the GAP-related domain, and loss of two codons toward the 3' end of the gene.
PubMed ID: 8081387
PubMed ID: 8544190
Title: Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene.
PubMed ID: 8544190
DOI: 10.1136/jmg.32.9.706
PubMed ID: 8834249
Title: Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: identification of three novel mutations and of two new polymorphisms.
PubMed ID: 8834249
DOI: 10.1007/bf02267073
PubMed ID: 8807336
Title: Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome.
PubMed ID: 8807336
DOI: 10.1002/(sici)1098-1004(1996)8:1<51::aid-humu7>3.0.co;2-s
PubMed ID: 9003501
Title: Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.
PubMed ID: 9003501
PubMed ID: 9150739
Title: Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene.
PubMed ID: 9150739
PubMed ID: 9101300
Title: Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene.
PubMed ID: 9101300
DOI: 10.1002/(sici)1098-1004(1997)9:4<366::aid-humu12>3.0.co;2-0
PubMed ID: 9298829
Title: Six novel mutations in the neurofibromatosis type 1 (NF1) gene.
PubMed ID: 9298829
DOI: 10.1002/(sici)1098-1004(1997)10:3<248::aid-humu14>3.0.co;2-#
PubMed ID: 9668168
Title: Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1 (NF1).
PubMed ID: 9668168
DOI: 10.1093/hmg/7.8.1261
PubMed ID: 10336779
Title: Analysis of CpG C-to-T mutations in neurofibromatosis type 1.
PubMed ID: 10336779
PubMed ID: 11258625
Title: Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing.
PubMed ID: 11258625
PubMed ID: 10220149
Title: A novel mutation L1425P in the GAP-region of the NF1 gene detected by temperature gradient gel electrophoresis (TGGE).
PubMed ID: 10220149
DOI: 10.1002/(sici)1098-1004(1999)13:4<337::aid-humu12>3.0.co;2-f
PubMed ID: 10712197
Title: Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.
PubMed ID: 10712197
DOI: 10.1086/302809
PubMed ID: 10607834
Title: Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.
PubMed ID: 10607834
DOI: 10.1093/hmg/9.2.237
PubMed ID: 10980545
Title: NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1.
PubMed ID: 10980545
DOI: 10.1002/1098-1004(200009)16:3<274::aid-humu21>3.3.co;2-6
PubMed ID: 11704931
Title: Spinal neurofibromatosis without cafe-au-lait macules in two families with null mutations of the NF1 gene.
PubMed ID: 11704931
DOI: 10.1086/324648
PubMed ID: 11735023
Title: Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 (NF1) gene.
PubMed ID: 11735023
PubMed ID: 11857752
Title: NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.
PubMed ID: 11857752
DOI: 10.1002/humu.9018
PubMed ID: 12707950
Title: Different mutations in the NF1 gene are associated with neurofibromatosis-Noonan syndrome (NFNS).
PubMed ID: 12707950
DOI: 10.1002/ajmg.a.20023
PubMed ID: 12522551
Title: Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type.
PubMed ID: 12522551
PubMed ID: 12552569
PubMed ID: 12746402
Title: NF1 mutations and clinical spectrum in patients with spinal neurofibromas.
PubMed ID: 12746402
DOI: 10.1136/jmg.40.5.368
PubMed ID: 15523642
Title: Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.
PubMed ID: 15523642
DOI: 10.1002/humu.20103
PubMed ID: 15146469
Title: Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.
PubMed ID: 15146469
DOI: 10.1002/humu.9245
PubMed ID: 15060124
Title: Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.
PubMed ID: 15060124
PubMed ID: 15520408
Title: Neurofibromatous neuropathy in neurofibromatosis 1 (NF1).
PubMed ID: 15520408
PubMed ID: 15948193
Title: Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.
PubMed ID: 15948193
DOI: 10.1002/ajmg.a.30813
PubMed ID: 16380919
Title: NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
PubMed ID: 16380919
DOI: 10.1086/498454
PubMed ID: 16959974
Title: The consensus coding sequences of human breast and colorectal cancers.
PubMed ID: 16959974
PubMed ID: 17160901
Title: An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.
PubMed ID: 17160901
DOI: 10.1086/510781
PubMed ID: 19845691
Title: Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.
PubMed ID: 19845691
PubMed ID: 21838856
Title: Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas.
PubMed ID: 21838856
PubMed ID: 22108604
Title: Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas.
PubMed ID: 22108604
PubMed ID: 23758643
Title: Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.
PubMed ID: 23758643
DOI: 10.1111/ahg.12026
PubMed ID: 24413922
Title: The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE.
PubMed ID: 24413922
Sequence Information:
- Length: 2839
- Mass: 319372
- Checksum: C079475139DBD51E
- Sequence:
MAAHRPVEWV QAVVSRFDEQ LPIKTGQQNT HTKVSTEHNK ECLINISKYK FSLVISGLTT ILKNVNNMRI FGEAAEKNLY LSQLIILDTL EKCLAGQPKD TMRLDETMLV KQLLPEICHF LHTCREGNQH AAELRNSASG VLFSLSCNNF NAVFSRISTR LQELTVCSED NVDVHDIELL QYINVDCAKL KRLLKETAFK FKALKKVAQL AVINSLEKAF WNWVENYPDE FTKLYQIPQT DMAECAEKLF DLVDGFAEST KRKAAVWPLQ IILLILCPEI IQDISKDVVD ENNMNKKLFL DSLRKALAGH GGSRQLTESA AIACVKLCKA STYINWEDNS VIFLLVQSMV VDLKNLLFNP SKPFSRGSQP ADVDLMIDCL VSCFRISPHN NQHFKICLAQ NSPSTFHYVL VNSLHRIITN SALDWWPKID AVYCHSVELR NMFGETLHKA VQGCGAHPAI RMAPSLTFKE KVTSLKFKEK PTDLETRSYK YLLLSMVKLI HADPKLLLCN PRKQGPETQG STAELITGLV QLVPQSHMPE IAQEAMEALL VLHQLDSIDL WNPDAPVETF WEISSQMLFY ICKKLTSHQM LSSTEILKWL REILICRNKF LLKNKQADRS SCHFLLFYGV GCDIPSSGNT SQMSMDHEEL LRTPGASLRK GKGNSSMDSA AGCSGTPPIC RQAQTKLEVA LYMFLWNPDT EAVLVAMSCF RHLCEEADIR CGVDEVSVHN LLPNYNTFME FASVSNMMST GRAALQKRVM ALLRRIEHPT AGNTEAWEDT HAKWEQATKL ILNYPKAKME DGQAAESLHK TIVKRRMSHV SGGGSIDLSD TDSLQEWINM TGFLCALGGV CLQQRSNSGL ATYSPPMGPV SERKGSMISV MSSEGNADTP VSKFMDRLLS LMVCNHEKVG LQIRTNVKDL VGLELSPALY PMLFNKLKNT ISKFFDSQGQ VLLTDTNTQF VEQTIAIMKN LLDNHTEGSS EHLGQASIET MMLNLVRYVR VLGNMVHAIQ IKTKLCQLVE VMMARRDDLS FCQEMKFRNK MVEYLTDWVM GTSNQAADDD VKCLTRDLDQ ASMEAVVSLL AGLPLQPEEG DGVELMEAKS QLFLKYFTLF MNLLNDCSEV EDESAQTGGR KRGMSRRLAS LRHCTVLAMS NLLNANVDSG LMHSIGLGYH KDLQTRATFM EVLTKILQQG TEFDTLAETV LADRFERLVE LVTMMGDQGE LPIAMALANV VPCSQWDELA RVLVTLFDSR HLLYQLLWNM FSKEVELADS MQTLFRGNSL ASKIMTFCFK VYGATYLQKL LDPLLRIVIT SSDWQHVSFE VDPTRLEPSE SLEENQRNLL QMTEKFFHAI ISSSSEFPPQ LRSVCHCLYQ ATCHSLLNKA TVKEKKENKK SVVSQRFPQN SIGAVGSAMF LRFINPAIVS PYEAGILDKK PPPRIERGLK LMSKILQSIA NHVLFTKEEH MRPFNDFVKS NFDAARRFFL DIASDCPTSD AVNHSLSFIS DGNVLALHRL LWNNQEKIGQ YLSSNRDHKA VGRRPFDKMA TLLAYLGPPE HKPVADTHWS SLNLTSSKFE EFMTRHQVHE KEEFKALKTL SIFYQAGTSK AGNPIFYYVA RRFKTGQING DLLIYHVLLT LKPYYAKPYE IVVDLTHTGP SNRFKTDFLS KWFVVFPGFA YDNVSAVYIY NCNSWVREYT KYHERLLTGL KGSKRLVFID CPGKLAEHIE HEQQKLPAAT LALEEDLKVF HNALKLAHKD TKVSIKVGST AVQVTSAERT KVLGQSVFLN DIYYASEIEE ICLVDENQFT LTIANQGTPL TFMHQECEAI VQSIIHIRTR WELSQPDSIP QHTKIRPKDV PGTLLNIALL NLGSSDPSLR SAAYNLLCAL TCTFNLKIEG QLLETSGLCI PANNTLFIVS ISKTLAANEP HLTLEFLEEC ISGFSKSSIE LKHLCLEYMT PWLSNLVRFC KHNDDAKRQR VTAILDKLIT MTINEKQMYP SIQAKIWGSL GQITDLLDVV LDSFIKTSAT GGLGSIKAEV MADTAVALAS GNVKLVSSKV IGRMCKIIDK TCLSPTPTLE QHLMWDDIAI LARYMLMLSF NNSLDVAAHL PYLFHVVTFL VATGPLSLRA STHGLVINII HSLCTCSQLH FSEETKQVLR LSLTEFSLPK FYLLFGISKV KSAAVIAFRS SYRDRSFSPG SYERETFALT SLETVTEALL EIMEACMRDI PTCKWLDQWT ELAQRFAFQY NPSLQPRALV VFGCISKRVS HGQIKQIIRI LSKALESCLK GPDTYNSQVL IEATVIALTK LQPLLNKDSP LHKALFWVAV AVLQLDEVNL YSAGTALLEQ NLHTLDSLRI FNDKSPEEVF MAIRNPLEWH CKQMDHFVGL NFNSNFNFAL VGHLLKGYRH PSPAIVARTV RILHTLLTLV NKHRNCDKFE VNTQSVAYLA ALLTVSEEVR SRCSLKHRKS LLLTDISMEN VPMDTYPIHH GDPSYRTLKE TQPWSSPKGS EGYLAATYPT VGQTSPRARK SMSLDMGQPS QANTKKLLGT RKSFDHLISD TKAPKRQEME SGITTPPKMR RVAETDYEME TQRISSSQQH PHLRKVSVSE SNVLLDEEVL TDPKIQALLL TVLATLVKYT TDEFDQRILY EYLAEASVVF PKVFPVVHNL LDSKINTLLS LCQDPNLLNP IHGIVQSVVY HEESPPQYQT SYLQSFGFNG LWRFAGPFSK QTQIPDYAEL IVKFLDALID TYLPGIDEET SEESLLTPTS PYPPALQSQL SITANLNLSN SMTSLATSQH SPGIDKENVE LSPTTGHCNS GRTRHGSASQ VQKQRSAGSF KRNSIKKIV
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.