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: 312.1922
Cell Significance Index: -48.5600 - Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
Fold Change: 191.6865
Cell Significance Index: -48.6200 - Cell Name: smooth muscle fiber of ileum (CL1000278)
Fold Change: 102.1133
Cell Significance Index: -48.2100 - Cell Name: mucosal type mast cell (CL0000485)
Fold Change: 97.9429
Cell Significance Index: -39.7900 - Cell Name: ciliated cell of the bronchus (CL0002332)
Fold Change: 41.7076
Cell Significance Index: -39.8200 - Cell Name: orthochromatic erythroblast (CL0000552)
Fold Change: 39.5837
Cell Significance Index: -48.8100 - Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
Fold Change: 12.9515
Cell Significance Index: -39.7800 - Cell Name: stromal cell of bone marrow (CL0010001)
Fold Change: 12.2654
Cell Significance Index: -48.4000 - Cell Name: epidermal Langerhans cell (CL0002457)
Fold Change: 12.1402
Cell Significance Index: -26.5700 - Cell Name: skeletal muscle fibroblast (CL0011027)
Fold Change: 9.0089
Cell Significance Index: 61.0400 - Cell Name: preadipocyte (CL0002334)
Fold Change: 8.7948
Cell Significance Index: 171.6500 - Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: 4.8992
Cell Significance Index: 712.1600 - Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: 2.9849
Cell Significance Index: 1895.7000 - Cell Name: fibro/adipogenic progenitor cell (CL0009099)
Fold Change: 2.6668
Cell Significance Index: 134.7700 - Cell Name: placental villous trophoblast (CL2000060)
Fold Change: 2.1862
Cell Significance Index: 58.3800 - Cell Name: fibroblast of cardiac tissue (CL0002548)
Fold Change: 2.0926
Cell Significance Index: 30.0500 - Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 1.7538
Cell Significance Index: 629.0600 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 1.7380
Cell Significance Index: 348.6400 - Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 1.3697
Cell Significance Index: 188.1000 - Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: 1.2904
Cell Significance Index: 36.9900 - Cell Name: hippocampal granule cell (CL0001033)
Fold Change: 1.0419
Cell Significance Index: 70.0600 - Cell Name: GABAergic interneuron (CL0011005)
Fold Change: 0.9923
Cell Significance Index: 686.2900 - Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: 0.7710
Cell Significance Index: 24.7000 - Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: 0.7159
Cell Significance Index: 27.1100 - Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: 0.6794
Cell Significance Index: 30.0500 - Cell Name: odontoblast (CL0000060)
Fold Change: 0.6700
Cell Significance Index: 85.8900 - Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 0.6583
Cell Significance Index: 1239.4100 - Cell Name: retinal progenitor cell (CL0002672)
Fold Change: 0.6015
Cell Significance Index: 33.7600 - Cell Name: secondary lens fiber (CL0002225)
Fold Change: 0.5583
Cell Significance Index: 759.1000 - Cell Name: intestinal tuft cell (CL0019032)
Fold Change: 0.5352
Cell Significance Index: 32.8100 - Cell Name: lung endothelial cell (CL1001567)
Fold Change: 0.3423
Cell Significance Index: 17.8300 - Cell Name: adipocyte of breast (CL0002617)
Fold Change: 0.2589
Cell Significance Index: 3.2600 - Cell Name: lens epithelial cell (CL0002224)
Fold Change: 0.2129
Cell Significance Index: 327.7800 - Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 0.1724
Cell Significance Index: 32.8200 - Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.1147
Cell Significance Index: 103.5500 - Cell Name: interstitial cell of ovary (CL0002094)
Fold Change: 0.1074
Cell Significance Index: 1.3700 - Cell Name: mesenchymal cell (CL0008019)
Fold Change: 0.0577
Cell Significance Index: 0.9700 - Cell Name: fallopian tube secretory epithelial cell (CL4030006)
Fold Change: 0.0278
Cell Significance Index: 0.4300 - Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.0244
Cell Significance Index: 4.8500 - Cell Name: anterior lens cell (CL0002223)
Fold Change: 0.0124
Cell Significance Index: 22.7800 - Cell Name: cell in vitro (CL0001034)
Fold Change: -0.0021
Cell Significance Index: -1.1500 - Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0276
Cell Significance Index: -20.4600 - Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.0468
Cell Significance Index: -21.2400 - Cell Name: pancreatic PP cell (CL0002275)
Fold Change: -0.0538
Cell Significance Index: -33.5700 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: -0.0556
Cell Significance Index: -4.2700 - Cell Name: small intestine goblet cell (CL1000495)
Fold Change: -0.0571
Cell Significance Index: -2.0100 - Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: -0.0620
Cell Significance Index: -45.4900 - Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.0688
Cell Significance Index: -52.0600 - Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0693
Cell Significance Index: -39.1100 - Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: -0.1001
Cell Significance Index: -44.2700 - Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: -0.1075
Cell Significance Index: -17.4900 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.1330
Cell Significance Index: -38.2700 - Cell Name: colon goblet cell (CL0009039)
Fold Change: -0.1541
Cell Significance Index: -15.2400 - Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: -0.1663
Cell Significance Index: -29.9700 - Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: -0.2158
Cell Significance Index: -36.8500 - Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.2174
Cell Significance Index: -45.8000 - Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: -0.2256
Cell Significance Index: -10.2300 - Cell Name: pancreatic endocrine cell (CL0008024)
Fold Change: -0.2334
Cell Significance Index: -26.6400 - Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: -0.2999
Cell Significance Index: -32.6300 - Cell Name: fibroblast of dermis (CL0002551)
Fold Change: -0.3058
Cell Significance Index: -6.4000 - Cell Name: basal cell of urothelium (CL1000486)
Fold Change: -0.3064
Cell Significance Index: -37.6800 - Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: -0.3153
Cell Significance Index: -6.5400 - Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.3438
Cell Significance Index: -35.8000 - Cell Name: abnormal cell (CL0001061)
Fold Change: -0.3594
Cell Significance Index: -36.7100 - Cell Name: lactocyte (CL0002325)
Fold Change: -0.3764
Cell Significance Index: -48.6300 - Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: -0.4088
Cell Significance Index: -47.6400 - Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: -0.4276
Cell Significance Index: -12.3200 - Cell Name: Purkinje cell (CL0000121)
Fold Change: -0.4309
Cell Significance Index: -9.4400 - Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: -0.4433
Cell Significance Index: -52.2800 - Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.4934
Cell Significance Index: -56.5300 - Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: -0.5774
Cell Significance Index: -39.9300 - Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: -0.5850
Cell Significance Index: -46.3300 - Cell Name: eukaryotic cell (CL0000255)
Fold Change: -0.5956
Cell Significance Index: -25.9000 - Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: -0.6135
Cell Significance Index: -13.0200 - Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: -0.6307
Cell Significance Index: -15.7700 - Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: -0.6352
Cell Significance Index: -29.8600 - Cell Name: sebum secreting cell (CL0000317)
Fold Change: -0.6470
Cell Significance Index: -45.7600 - Cell Name: gut absorptive cell (CL0000677)
Fold Change: -0.6723
Cell Significance Index: -40.3600 - Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: -0.6769
Cell Significance Index: -50.4500 - Cell Name: early pro-B cell (CL0002046)
Fold Change: -0.7473
Cell Significance Index: -48.2100 - Cell Name: hippocampal pyramidal neuron (CL1001571)
Fold Change: -0.8102
Cell Significance Index: -23.1200 - Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: -0.8323
Cell Significance Index: -23.2600 - Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
Fold Change: -0.8432
Cell Significance Index: -12.0800 - Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: -0.8592
Cell Significance Index: -28.1300 - Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: -0.8594
Cell Significance Index: -27.3700 - Cell Name: glycinergic neuron (CL1001509)
Fold Change: -0.8657
Cell Significance Index: -45.4500 - Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: -0.8804
Cell Significance Index: -55.4900 - Cell Name: forebrain neuroblast (CL1000042)
Fold Change: -0.8947
Cell Significance Index: -54.9900 - Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: -0.9571
Cell Significance Index: -33.5300 - Cell Name: bladder urothelial cell (CL1001428)
Fold Change: -0.9993
Cell Significance Index: -51.9100 - Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: -1.0070
Cell Significance Index: -25.1200 - Cell Name: fibroblast of the aortic adventitia (CL0002547)
Fold Change: -1.0088
Cell Significance Index: -10.1800 - Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: -1.0100
Cell Significance Index: -19.9700 - Cell Name: leptomeningeal cell (CL0000708)
Fold Change: -1.0636
Cell Significance Index: -22.7400 - Cell Name: VIP GABAergic cortical interneuron (CL4023016)
Fold Change: -1.0654
Cell Significance Index: -21.3900 - Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
Fold Change: -1.0845
Cell Significance Index: -23.4300 - Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
Fold Change: -1.1157
Cell Significance Index: -38.7700 - Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
Fold Change: -1.1327
Cell Significance Index: -23.6400 - Cell Name: hippocampal interneuron (CL1001569)
Fold Change: -1.1821
Cell Significance Index: -15.3300 - Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: -1.2029
Cell Significance Index: -26.0600
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: 1230546517
Symbol: FBN1_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 8364578
Title: Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome.
PubMed ID: 8364578
DOI: 10.1093/hmg/2.7.961
PubMed ID: 15221638
Title: Three novel mutations of the fibrillin-1 gene and ten single nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome patients.
PubMed ID: 15221638
PubMed ID: 16572171
Title: Analysis of the DNA sequence and duplication history of human chromosome 15.
PubMed ID: 16572171
DOI: 10.1038/nature04601
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 7691719
Title: Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5' end.
PubMed ID: 7691719
PubMed ID: 1852207
Title: Partial sequence of a candidate gene for the Marfan syndrome.
PubMed ID: 1852207
DOI: 10.1038/352334a0
PubMed ID: 1852206
Title: Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes.
PubMed ID: 1852206
DOI: 10.1038/352330a0
PubMed ID: 8430317
Title: The skipping of constitutive exons in vivo induced by nonsense mutations.
PubMed ID: 8430317
PubMed ID: 10636927
Title: Initial steps in assembly of microfibrils. Formation of disulfide-cross-linked multimers containing fibrillin-1.
PubMed ID: 10636927
PubMed ID: 9817919
Title: Evidence for furin-type activity-mediated C-terminal processing of profibrillin-1 and interference in the processing by certain mutations.
PubMed ID: 9817919
PubMed ID: 2739055
Title: Association of mitral valve prolapse and systemic abnormalities of connective tissue: a phenotypic continuum.
PubMed ID: 2739055
PubMed ID: 1860873
Title: Purification and partial characterization of fibrillin, a cysteine-rich structural component of connective tissue microfibrils.
PubMed ID: 1860873
PubMed ID: 11461921
Title: Interactions of fibrillin-1 with heparin/heparan sulfate, implications for microfibrillar assembly.
PubMed ID: 11461921
PubMed ID: 12807887
Title: Cell adhesion to fibrillin-1 molecules and microfibrils is mediated by alpha 5 beta 1 and alpha v beta 3 integrins.
PubMed ID: 12807887
PubMed ID: 15131124
Title: MAGP-2 has multiple binding regions on fibrillins and has covalent periodic association with fibrillin-containing microfibrils.
PubMed ID: 15131124
PubMed ID: 15165854
Title: Molecular structure and interaction of recombinant human type XVI collagen.
PubMed ID: 15165854
PubMed ID: 15790312
Title: Fibulin-5 interacts with fibrillin-1 molecules and microfibrils.
PubMed ID: 15790312
DOI: 10.1042/bj20050368
PubMed ID: 17158881
Title: alphaVbeta6 is a novel receptor for human fibrillin-1. Comparative studies of molecular determinants underlying integrin-rgd affinity and specificity.
PubMed ID: 17158881
PubMed ID: 17255108
Title: Fibrillin-1 interactions with fibulins depend on the first hybrid domain and provide an adaptor function to tropoelastin.
PubMed ID: 17255108
PubMed ID: 17293099
Title: LTBP-2 specifically interacts with the amino-terminal region of fibrillin-1 and competes with LTBP-1 for binding to this microfibrillar protein.
PubMed ID: 17293099
PubMed ID: 18339631
Title: Targeting of bone morphogenetic protein growth factor complexes to fibrillin.
PubMed ID: 18339631
PubMed ID: 19349279
Title: Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites.
PubMed ID: 19349279
PubMed ID: 19570982
Title: Differential regulation of elastic fiber formation by fibulin-4 and -5.
PubMed ID: 19570982
PubMed ID: 19159218
Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
PubMed ID: 19159218
DOI: 10.1021/pr8008012
PubMed ID: 20979188
Title: Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.
PubMed ID: 20979188
DOI: 10.1002/ajmg.a.33690
PubMed ID: 21594992
Title: Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene.
PubMed ID: 21594992
DOI: 10.1002/ajmg.a.33906
PubMed ID: 21594993
Title: Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene.
PubMed ID: 21594993
DOI: 10.1002/ajmg.a.33905
PubMed ID: 21402694
Title: ADAMTS10 protein interacts with fibrillin-1 and promotes its deposition in extracellular matrix of cultured fibroblasts.
PubMed ID: 21402694
PubMed ID: 23010571
Title: A disintegrin-like and metalloprotease domain containing thrombospondin type 1 motif-like 5 (ADAMTSL5) is a novel fibrillin-1-, fibrillin-2-, and heparin-binding member of the ADAMTS superfamily containing a netrin-like module.
PubMed ID: 23010571
PubMed ID: 24039232
Title: Fibrillin-1 directly regulates osteoclast formation and function by a dual mechanism.
PubMed ID: 24039232
DOI: 10.1242/jcs.127571
PubMed ID: 24665001
Title: De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy.
PubMed ID: 24665001
DOI: 10.1002/ajmg.a.36449
PubMed ID: 24039054
Title: Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.
PubMed ID: 24039054
DOI: 10.1002/ajmg.a.36157
PubMed ID: 24613577
Title: Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.
PubMed ID: 24613577
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 24982166
Title: C-terminal propeptide is required for fibrillin-1 secretion and blocks premature assembly through linkage to domains cbEGF41-43.
PubMed ID: 24982166
PubMed ID: 26091039
Title: A single kinase generates the majority of the secreted phosphoproteome.
PubMed ID: 26091039
PubMed ID: 27026396
Title: New insights into the structure, assembly and biological roles of 10-12 nm connective tissue microfibrils from fibrillin-1 studies.
PubMed ID: 27026396
DOI: 10.1042/bj20151108
PubMed ID: 27087445
Title: Asprosin, a fasting-induced glucogenic protein hormone.
PubMed ID: 27087445
PubMed ID: 31230984
Title: OLFR734 mediates glucose metabolism as a receptor of asprosin.
PubMed ID: 31230984
PubMed ID: 31775140
Title: Serum Asprosin Concentrations Are Increased and Associated with Insulin Resistance in Children with Obesity.
PubMed ID: 31775140
DOI: 10.1159/000503808
PubMed ID: 29104036
Title: Circulating asprosin concentrations are increased in type 2 diabetes mellitus and independently associated with fasting glucose and triglyceride.
PubMed ID: 29104036
PubMed ID: 30853600
Title: Asprosin impairs insulin secretion in response to glucose and viability through TLR4/JNK-mediated inflammation.
PubMed ID: 30853600
PubMed ID: 33904407
Title: Asprosin-neutralizing antibodies as a treatment for metabolic syndrome.
PubMed ID: 33904407
DOI: 10.7554/elife.63784
PubMed ID: 26860060
Title: Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy.
PubMed ID: 26860060
DOI: 10.1038/ejhg.2016.6
PubMed ID: 26601954
Title: Characterization of microfibrillar-associated protein 4 (MFAP4) as a tropoelastin- and fibrillin-binding protein involved in elastic fiber formation.
PubMed ID: 26601954
PubMed ID: 34411563
Title: POGLUT2 and POGLUT3 O-glucosylate multiple EGF repeats in fibrillin-1, -2, and LTBP1 and promote secretion of fibrillin-1.
PubMed ID: 34411563
PubMed ID: 9362480
Title: Solution structure of the transforming growth factor beta-binding protein-like module, a domain associated with matrix fibrils.
PubMed ID: 9362480
PubMed ID: 8568869
Title: Calcium binding properties of an epidermal growth factor-like domain pair from human fibrillin-1.
PubMed ID: 8568869
PubMed ID: 8653794
Title: Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders.
PubMed ID: 8653794
PubMed ID: 12511552
Title: Solution structure and dynamics of a calcium binding epidermal growth factor-like domain pair from the neonatal region of human fibrillin-1.
PubMed ID: 12511552
PubMed ID: 15062093
Title: Structure of the integrin binding fragment from fibrillin-1 gives new insights into microfibril organization.
PubMed ID: 15062093
PubMed ID: 19446531
Title: Structure and interdomain interactions of a hybrid domain: a disulphide-rich module of the fibrillin/LTBP superfamily of matrix proteins.
PubMed ID: 19446531
PubMed ID: 24035709
Title: Structure of the fibrillin-1 N-terminal domains suggests that heparan sulfate regulates the early stages of microfibril assembly.
PubMed ID: 24035709
PubMed ID: 8594563
Title: Software and database for the analysis of mutations in the human FBN1 gene.
PubMed ID: 8594563
DOI: 10.1093/nar/24.1.137
PubMed ID: 10633129
Title: The molecular genetics of Marfan syndrome and related microfibrillopathies.
PubMed ID: 10633129
DOI: 10.1136/jmg.37.1.9
PubMed ID: 12203987
Title: Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.
PubMed ID: 12203987
DOI: 10.1002/humu.10113
PubMed ID: 1852208
Title: Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.
PubMed ID: 1852208
DOI: 10.1038/352337a0
PubMed ID: 1301946
Title: Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains.
PubMed ID: 1301946
PubMed ID: 1569206
Title: Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene.
PubMed ID: 1569206
DOI: 10.1172/jci115766
PubMed ID: 8406497
Title: Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.
PubMed ID: 8406497
PubMed ID: 8504310
Title: A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module.
PubMed ID: 8504310
DOI: 10.1093/hmg/2.4.475
PubMed ID: 8281141
Title: Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains.
PubMed ID: 8281141
PubMed ID: 7977366
Title: A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.
PubMed ID: 7977366
PubMed ID: 8188302
Title: A novel mutation of the fibrillin gene causing ectopia lentis.
PubMed ID: 8188302
PubMed ID: 8004112
Title: Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients.
PubMed ID: 8004112
DOI: 10.1093/hmg/3.2.373
PubMed ID: 7951214
Title: Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred.
PubMed ID: 7951214
DOI: 10.1093/hmg/3.6.1013
PubMed ID: 7911051
Title: Identification of a novel nonsense mutation in the fibrillin gene (FBN1) using nonisotopic techniques.
PubMed ID: 7911051
PubMed ID: 8040326
Title: An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome.
PubMed ID: 8040326
DOI: 10.1172/jci117389
PubMed ID: 8071963
Title: A new missense mutation of fibrillin in a patient with Marfan syndrome.
PubMed ID: 8071963
DOI: 10.1136/jmg.31.4.338
PubMed ID: 7870075
Title: A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly.
PubMed ID: 7870075
PubMed ID: 8136837
Title: Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome.
PubMed ID: 8136837
DOI: 10.1038/ng0194-64
PubMed ID: 7762551
Title: A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection.
PubMed ID: 7762551
PubMed ID: 7611299
Title: Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.
PubMed ID: 7611299
PubMed ID: 7738200
Title: A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.
PubMed ID: 7738200
DOI: 10.1172/jci117930
PubMed ID: 8882780
Title: Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene.
PubMed ID: 8882780
DOI: 10.1002/(sici)1096-8628(19960329)62:3<233::aid-ajmg7>3.0.co;2-u
PubMed ID: 8863159
Title: Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome.
PubMed ID: 8863159
DOI: 10.1136/jmg.33.8.665
PubMed ID: 9254848
Title: A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype.
PubMed ID: 9254848
PubMed ID: 9150726
Title: The pathogenicity of the Pro1148Ala substitution in the FBN1 gene: causing or predisposing to Marfan syndrome and aortic aneurysm, or clinically innocent?
PubMed ID: 9150726
PubMed ID: 9338581
Title: Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutations.
PubMed ID: 9338581
DOI: 10.1002/(sici)1098-1004(1997)10:4<280::aid-humu3>3.0.co;2-l
PubMed ID: 9338588
Title: P1148A in fibrillin-1 is not a mutation leading to Shprintzen-Goldberg syndrome.
PubMed ID: 9338588
DOI: 10.1002/(sici)1098-1004(1997)10:4<326::aid-humu10>3.0.co;2-1
PubMed ID: 9401003
Title: Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.
PubMed ID: 9401003
DOI: 10.1002/(sici)1098-1004(1997)10:6<415::aid-humu1>3.0.co;2-c
PubMed ID: 8988160
PubMed ID: 9016526
Title: Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.
PubMed ID: 9016526
DOI: 10.1093/nar/25.1.147
PubMed ID: 9837823
Title: Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome.
PubMed ID: 9837823
DOI: 10.1086/302144
PubMed ID: 9452085
Title: Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype.
PubMed ID: 9452085
PubMed ID: 10694921
Title: A novel mutation in the neonatal region of the fibrillin (FBN) 1 gene associated with a classical phenotype of Marfan syndrome (MfS).
PubMed ID: 10694921
DOI: 10.1002/(sici)1098-1004(1998)12:2%3c137::aid-humu14%3e3.0.co;2-p
PubMed ID: 10441597
Title: Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation.
PubMed ID: 10441597
DOI: 10.1086/302545
PubMed ID: 10425041
Title: Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome.
PubMed ID: 10425041
DOI: 10.1002/(sici)1098-1004(1999)14:2<181::aid-humu10>3.0.co;2-6
PubMed ID: 11700157
Title: Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.
PubMed ID: 11700157
PubMed ID: 12203992
Title: TGGE screening of the entire FBN1 coding sequence in 126 individuals with Marfan syndrome and related fibrillinopathies.
PubMed ID: 12203992
DOI: 10.1002/humu.10112
PubMed ID: 12402346
Title: Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations.
PubMed ID: 12402346
DOI: 10.1002/humu.9075
PubMed ID: 11826022
Title: Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.
PubMed ID: 11826022
DOI: 10.1136/jmg.39.1.34
PubMed ID: 12161601
Title: Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice.
PubMed ID: 12161601
DOI: 10.1136/jmg.39.8.589
PubMed ID: 12525539
Title: In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome.
PubMed ID: 12525539
DOI: 10.1136/jmg.40.1.34
PubMed ID: 14695540
Title: Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.
PubMed ID: 14695540
DOI: 10.1002/humu.9207
PubMed ID: 15161917
Title: Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1.
PubMed ID: 15161917
PubMed ID: 16222657
Title: Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.
PubMed ID: 16222657
DOI: 10.1002/humu.9377
PubMed ID: 16220557
Title: Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.
PubMed ID: 16220557
DOI: 10.1002/humu.20239
PubMed ID: 17657824
Title: The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
PubMed ID: 17657824
DOI: 10.1002/humu.9505
PubMed ID: 18435798
Title: FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations.
PubMed ID: 18435798
Sequence Information:
- Length: 2871
- Mass: 312298
- Checksum: 501258AF1756B9F7
- Sequence:
MRRGRLLEIA LGFTVLLASY TSHGADANLE AGNVKETRAS RAKRRGGGGH DALKGPNVCG SRYNAYCCPG WKTLPGGNQC IVPICRHSCG DGFCSRPNMC TCPSGQIAPS CGSRSIQHCN IRCMNGGSCS DDHCLCQKGY IGTHCGQPVC ESGCLNGGRC VAPNRCACTY GFTGPQCERD YRTGPCFTVI SNQMCQGQLS GIVCTKTLCC ATVGRAWGHP CEMCPAQPHP CRRGFIPNIR TGACQDVDEC QAIPGLCQGG NCINTVGSFE CKCPAGHKLN EVSQKCEDID ECSTIPGICE GGECTNTVSS YFCKCPPGFY TSPDGTRCID VRPGYCYTAL TNGRCSNQLP QSITKMQCCC DAGRCWSPGV TVAPEMCPIR ATEDFNKLCS VPMVIPGRPE YPPPPLGPIP PVLPVPPGFP PGPQIPVPRP PVEYLYPSRE PPRVLPVNVT DYCQLVRYLC QNGRCIPTPG SYRCECNKGF QLDLRGECID VDECEKNPCA GGECINNQGS YTCQCRAGYQ STLTRTECRD IDECLQNGRI CNNGRCINTD GSFHCVCNAG FHVTRDGKNC EDMDECSIRN MCLNGMCINE DGSFKCICKP GFQLASDGRY CKDINECETP GICMNGRCVN TDGSYRCECF PGLAVGLDGR VCVDTHMRST CYGGYKRGQC IKPLFGAVTK SECCCASTEY AFGEPCQPCP AQNSAEYQAL CSSGPGMTSA GSDINECALD PDICPNGICE NLRGTYKCIC NSGYEVDSTG KNCVDINECV LNSLLCDNGQ CRNTPGSFVC TCPKGFIYKP DLKTCEDIDE CESSPCINGV CKNSPGSFIC ECSSESTLDP TKTICIETIK GTCWQTVIDG RCEININGAT LKSQCCSSLG AAWGSPCTLC QVDPICGKGY SRIKGTQCED IDECEVFPGV CKNGLCVNTR GSFKCQCPSG MTLDATGRIC LDIRLETCFL RYEDEECTLP IAGRHRMDAC CCSVGAAWGT EECEECPMRN TPEYEELCPR GPGFATKEIT NGKPFFKDIN ECKMIPSLCT HGKCRNTIGS FKCRCDSGFA LDSEERNCTD IDECRISPDL CGRGQCVNTP GDFECKCDEG YESGFMMMKN CMDIDECQRD PLLCRGGVCH NTEGSYRCEC PPGHQLSPNI SACIDINECE LSAHLCPNGR CVNLIGKYQC ACNPGYHSTP DRLFCVDIDE CSIMNGGCET FCTNSEGSYE CSCQPGFALM PDQRSCTDID ECEDNPNICD GGQCTNIPGE YRCLCYDGFM ASEDMKTCVD VNECDLNPNI CLSGTCENTK GSFICHCDMG YSGKKGKTGC TDINECEIGA HNCGKHAVCT NTAGSFKCSC SPGWIGDGIK CTDLDECSNG THMCSQHADC KNTMGSYRCL CKEGYTGDGF TCTDLDECSE NLNLCGNGQC LNAPGGYRCE CDMGFVPSAD GKACEDIDEC SLPNICVFGT CHNLPGLFRC ECEIGYELDR SGGNCTDVNE CLDPTTCISG NCVNTPGSYI CDCPPDFELN PTRVGCVDTR SGNCYLDIRP RGDNGDTACS NEIGVGVSKA SCCCSLGKAW GTPCEMCPAV NTSEYKILCP GGEGFRPNPI TVILEDIDEC QELPGLCQGG KCINTFGSFQ CRCPTGYYLN EDTRVCDDVN ECETPGICGP GTCYNTVGNY TCICPPDYMQ VNGGNNCMDM RRSLCYRNYY ADNQTCDGEL LFNMTKKMCC CSYNIGRAWN KPCEQCPIPS TDEFATLCGS QRPGFVIDIY TGLPVDIDEC REIPGVCENG VCINMVGSFR CECPVGFFYN DKLLVCEDID ECQNGPVCQR NAECINTAGS YRCDCKPGYR FTSTGQCNDR NECQEIPNIC SHGQCIDTVG SFYCLCHTGF KTNDDQTMCL DINECERDAC GNGTCRNTIG SFNCRCNHGF ILSHNNDCID VDECASGNGN LCRNGQCINT VGSFQCQCNE GYEVAPDGRT CVDINECLLE PRKCAPGTCQ NLDGSYRCIC PPGYSLQNEK CEDIDECVEE PEICALGTCS NTEGSFKCLC PEGFSLSSSG RRCQDLRMSY CYAKFEGGKC SSPKSRNHSK QECCCALKGE GWGDPCELCP TEPDEAFRQI CPYGSGIIVG PDDSAVDMDE CKEPDVCKHG QCINTDGSYR CECPFGYILA GNECVDTDEC SVGNPCGNGT CKNVIGGFEC TCEEGFEPGP MMTCEDINEC AQNPLLCAFR CVNTYGSYEC KCPVGYVLRE DRRMCKDEDE CEEGKHDCTE KQMECKNLIG TYMCICGPGY QRRPDGEGCV DENECQTKPG ICENGRCLNT RGSYTCECND GFTASPNQDE CLDNREGYCF TEVLQNMCQI GSSNRNPVTK SECCCDGGRG WGPHCEICPF QGTVAFKKLC PHGRGFMTNG ADIDECKVIH DVCRNGECVN DRGSYHCICK TGYTPDITGT SCVDLNECNQ APKPCNFICK NTEGSYQCSC PKGYILQEDG RSCKDLDECA TKQHNCQFLC VNTIGGFTCK CPPGFTQHHT SCIDNNECTS DINLCGSKGI CQNTPGSFTC ECQRGFSLDQ TGSSCEDVDE CEGNHRCQHG CQNIIGGYRC SCPQGYLQHY QWNQCVDENE CLSAHICGGA SCHNTLGSYK CMCPAGFQYE QFSGGCQDIN ECGSAQAPCS YGCSNTEGGY LCGCPPGYFR IGQGHCVSGM GMGRGNPEPP VSGEMDDNSL SPEACYECKI NGYPKRGRKR RSTNETDASN IEDQSETEAN VSLASWDVEK TAIFAFNISH VSNKVRILEL LPALTTLTNH NRYLIESGNE DGFFKINQKE GISYLHFTKK KPVAGTYSLQ ISSTPLYKKK ELNQLEDKYD KDYLSGELGD NLKMKIQVLL H
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.