Details for: F8
Associated with
Cells (max top 100)
(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)
- Cell Name: pulmonary artery endothelial cell (CL1001568)
Fold Change: 1.97
Marker Score: 1697 - Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
Fold Change: 1.93
Marker Score: 2067 - Cell Name: mural cell (CL0008034)
Fold Change: 1.48
Marker Score: 169388 - Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
Fold Change: 1.43
Marker Score: 394 - Cell Name: glomerular endothelial cell (CL0002188)
Fold Change: 1.41
Marker Score: 357 - Cell Name: lung microvascular endothelial cell (CL2000016)
Fold Change: 1.35
Marker Score: 288 - Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
Fold Change: 1.34
Marker Score: 294 - Cell Name: cardiac endothelial cell (CL0010008)
Fold Change: 1.34
Marker Score: 2542 - Cell Name: endothelial cell of vascular tree (CL0002139)
Fold Change: 1.31
Marker Score: 1903 - Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: 1.24
Marker Score: 842 - Cell Name: endocardial cell (CL0002350)
Fold Change: 1.22
Marker Score: 687 - Cell Name: endothelial cell of uterus (CL0009095)
Fold Change: 1.12
Marker Score: 2229 - Cell Name: alveolar capillary type 1 endothelial cell (CL4028002)
Fold Change: 1.11
Marker Score: 2833 - Cell Name: germ cell (CL0000586)
Fold Change: 1.09
Marker Score: 1908 - Cell Name: retinal blood vessel endothelial cell (CL0002585)
Fold Change: 1.01
Marker Score: 242 - Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: 1
Marker Score: 71802 - Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: 1
Marker Score: 48027 - Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30406 - Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
Fold Change: 0.97
Marker Score: 827 - Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.96
Marker Score: 496 - Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
Fold Change: 0.95
Marker Score: 450 - Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.95
Marker Score: 2410 - Cell Name: abnormal cell (CL0001061)
Fold Change: 0.91
Marker Score: 2740 - Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.91
Marker Score: 364 - Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.9
Marker Score: 5158 - Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: 0.89
Marker Score: 371 - Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.88
Marker Score: 317 - Cell Name: cardiac muscle cell (CL0000746)
Fold Change: 0.87
Marker Score: 11587 - Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5276 - Cell Name: kidney capillary endothelial cell (CL1000892)
Fold Change: 0.86
Marker Score: 268 - Cell Name: immature innate lymphoid cell (CL0001082)
Fold Change: 0.85
Marker Score: 1727 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.83
Marker Score: 12972 - Cell Name: endothelial cell of lymphatic vessel (CL0002138)
Fold Change: 0.79
Marker Score: 493 - Cell Name: epicardial adipocyte (CL1000309)
Fold Change: 0.78
Marker Score: 381 - Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.78
Marker Score: 1267 - Cell Name: choroid plexus epithelial cell (CL0000706)
Fold Change: 0.78
Marker Score: 713 - Cell Name: brush cell (CL0002204)
Fold Change: 0.76
Marker Score: 697 - Cell Name: goblet cell (CL0000160)
Fold Change: 0.75
Marker Score: 4994 - Cell Name: early T lineage precursor (CL0002425)
Fold Change: 0.75
Marker Score: 573.5 - Cell Name: Cajal-Retzius cell (CL0000695)
Fold Change: 0.75
Marker Score: 386 - Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.69
Marker Score: 2899.5 - Cell Name: peritubular capillary endothelial cell (CL1001033)
Fold Change: 0.68
Marker Score: 158 - Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.67
Marker Score: 171 - Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
Fold Change: 0.66
Marker Score: 1547 - Cell Name: blood vessel endothelial cell (CL0000071)
Fold Change: 0.66
Marker Score: 660 - Cell Name: vascular lymphangioblast (CL0005022)
Fold Change: 0.64
Marker Score: 1077 - Cell Name: oogonial cell (CL0000024)
Fold Change: 0.62
Marker Score: 889 - Cell Name: capillary endothelial cell (CL0002144)
Fold Change: 0.59
Marker Score: 640 - Cell Name: mononuclear cell (CL0000842)
Fold Change: 0.59
Marker Score: 190 - Cell Name: fibroblast of cardiac tissue (CL0002548)
Fold Change: 0.58
Marker Score: 3458 - Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
Fold Change: 0.57
Marker Score: 345 - Cell Name: intestinal enteroendocrine cell (CL1001516)
Fold Change: 0.56
Marker Score: 443 - Cell Name: endothelial cell of artery (CL1000413)
Fold Change: 0.55
Marker Score: 230 - Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.55
Marker Score: 352 - Cell Name: GABAergic amacrine cell (CL4030027)
Fold Change: 0.53
Marker Score: 1067 - Cell Name: intestinal tuft cell (CL0019032)
Fold Change: 0.52
Marker Score: 166 - Cell Name: tracheal goblet cell (CL1000329)
Fold Change: 0.51
Marker Score: 1436 - Cell Name: Sertoli cell (CL0000216)
Fold Change: 0.5
Marker Score: 2989 - Cell Name: glomerular capillary endothelial cell (CL1001005)
Fold Change: 0.48
Marker Score: 135 - Cell Name: smooth muscle myoblast (CL0000514)
Fold Change: 0.48
Marker Score: 230 - Cell Name: retinal ganglion cell (CL0000740)
Fold Change: 0.47
Marker Score: 588 - Cell Name: thymocyte (CL0000893)
Fold Change: 0.44
Marker Score: 464.5 - Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: 0.44
Marker Score: 684 - Cell Name: endothelial cell (CL0000115)
Fold Change: 0.44
Marker Score: 390 - Cell Name: cardiac neuron (CL0010022)
Fold Change: 0.42
Marker Score: 527 - Cell Name: astrocyte of the cerebral cortex (CL0002605)
Fold Change: 0.42
Marker Score: 8979 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 0.42
Marker Score: 25671 - Cell Name: fat cell (CL0000136)
Fold Change: 0.4
Marker Score: 222 - Cell Name: prostate gland microvascular endothelial cell (CL2000059)
Fold Change: 0.39
Marker Score: 153 - Cell Name: hepatic stellate cell (CL0000632)
Fold Change: 0.39
Marker Score: 147 - Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: 0.36
Marker Score: 3431 - Cell Name: lymphocyte (CL0000542)
Fold Change: 0.36
Marker Score: 182 - Cell Name: myeloid cell (CL0000763)
Fold Change: 0.34
Marker Score: 544 - Cell Name: colon goblet cell (CL0009039)
Fold Change: 0.34
Marker Score: 245 - Cell Name: connective tissue cell (CL0002320)
Fold Change: 0.34
Marker Score: 87 - Cell Name: blood vessel smooth muscle cell (CL0019018)
Fold Change: 0.33
Marker Score: 87 - Cell Name: midzonal region hepatocyte (CL0019028)
Fold Change: 0.33
Marker Score: 1404 - Cell Name: common myeloid progenitor (CL0000049)
Fold Change: 0.32
Marker Score: 86 - Cell Name: vein endothelial cell (CL0002543)
Fold Change: 0.32
Marker Score: 291 - Cell Name: centrilobular region hepatocyte (CL0019029)
Fold Change: 0.32
Marker Score: 2044 - Cell Name: alveolar capillary type 2 endothelial cell (CL4028003)
Fold Change: 0.31
Marker Score: 453 - Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
Fold Change: 0.3
Marker Score: 328 - Cell Name: kidney interstitial fibroblast (CL1000692)
Fold Change: 0.3
Marker Score: 584.5 - Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: 0.3
Marker Score: 2582 - Cell Name: lens fiber cell (CL0011004)
Fold Change: 0.3
Marker Score: 95 - Cell Name: primordial germ cell (CL0000670)
Fold Change: 0.3
Marker Score: 376 - Cell Name: type B pancreatic cell (CL0000169)
Fold Change: 0.29
Marker Score: 292 - Cell Name: mature astrocyte (CL0002627)
Fold Change: 0.29
Marker Score: 193 - Cell Name: neuronal receptor cell (CL0000006)
Fold Change: 0.28
Marker Score: 126 - Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 0.28
Marker Score: 1176 - Cell Name: kidney connecting tubule epithelial cell (CL1000768)
Fold Change: 0.28
Marker Score: 397 - Cell Name: renal principal cell (CL0005009)
Fold Change: 0.28
Marker Score: 213 - Cell Name: cerebral cortex endothelial cell (CL1001602)
Fold Change: 0.27
Marker Score: 164 - Cell Name: secondary lens fiber (CL0002225)
Fold Change: 0.27
Marker Score: 160 - Cell Name: precursor B cell (CL0000817)
Fold Change: 0.27
Marker Score: 179 - Cell Name: vasa recta ascending limb cell (CL1001131)
Fold Change: 0.27
Marker Score: 71 - Cell Name: male germ cell (CL0000015)
Fold Change: 0.27
Marker Score: 77 - Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
Fold Change: 0.27
Marker Score: 711 - Cell Name: regular atrial cardiac myocyte (CL0002129)
Fold Change: 0.26
Marker Score: 927 - Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: 0.25
Marker Score: 636
Hover over a box to see details here...
Hover over a box to see details here...
Hover over a box to see details here...
Other Information
Genular Protein ID: 1310552580
Symbol: FA8_HUMAN
Name: Coagulation factor VIII
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 3935400
Title: Characterization of the polypeptide composition of human factor VIII:C and the nucleotide sequence and expression of the human kidney cDNA.
PubMed ID: 3935400
PubMed ID: 6438526
Title: Expression of active human factor VIII from recombinant DNA clones.
PubMed ID: 6438526
DOI: 10.1038/312330a0
PubMed ID: 1427887
Title: Evidence for a third transcript from the human factor VIII gene.
PubMed ID: 1427887
PubMed ID: 6438528
Title: Molecular cloning of a cDNA encoding human antihaemophilic factor.
PubMed ID: 6438528
DOI: 10.1038/312342a0
PubMed ID: 1303178
Title: Sequence of the exon-containing regions of the human factor VIII gene.
PubMed ID: 1303178
DOI: 10.1093/hmg/1.3.199
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 15772651
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: 10368977
Title: Characterization of tyrosine sulfate residues in antihemophilic recombinant factor VIII by liquid chromatography electrospray ionization tandem mass spectrometry and amino acid analysis.
PubMed ID: 10368977
DOI: 10.1002/(sici)1097-0231(19990615)13:11<1016::aid-rcm599>3.0.co;2-5
PubMed ID: 1898735
Title: Sulfation of Tyr1680 of human blood coagulation factor VIII is essential for the interaction of factor VIII with von Willebrand factor.
PubMed ID: 1898735
PubMed ID: 1554716
Title: Identification and functional importance of tyrosine sulfate residues within recombinant factor VIII.
PubMed ID: 1554716
DOI: 10.1021/bi00128a003
PubMed ID: 9218428
Title: The acidic region of the factor VIII light chain and the C2 domain together form the high affinity binding site for von Willebrand factor.
PubMed ID: 9218428
PubMed ID: 7613471
Title: Locations of disulfide bonds and free cysteines in the heavy and light chains of recombinant human factor VIII (antihemophilic factor A).
PubMed ID: 7613471
PubMed ID: 16335952
Title: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.
PubMed ID: 16335952
DOI: 10.1021/pr0502065
PubMed ID: 18217133
Title: Cathepsin G, a leukocyte protease, activates coagulation factor VIII.
PubMed ID: 18217133
DOI: 10.1160/th07-08-0495
PubMed ID: 33275657
Title: Partial F8 gene duplication (factor VIII Padua) associated with high factor VIII levels and familial thrombophilia.
PubMed ID: 33275657
PubMed ID: 7893714
Title: Membrane-binding peptide from the C2 domain of factor VIII forms an amphipathic structure as determined by NMR spectroscopy.
PubMed ID: 7893714
DOI: 10.1021/bi00009a033
PubMed ID: 32166871
Title: The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant Databases: Important resources for haemostasis clinicians and researchers.
PubMed ID: 32166871
DOI: 10.1111/hae.13947
PubMed ID: 1902642
Title: The molecular basis of hemophilia A.
PubMed ID: 1902642
PubMed ID: 2491949
Title: Factor VIII gene and hemophilia A.
PubMed ID: 2491949
PubMed ID: 7728145
Title: Molecular etiology of factor VIII deficiency in hemophilia A.
PubMed ID: 7728145
PubMed ID: 3012775
Title: Identification of a missense mutation in the factor VIII gene of a mild hemophiliac.
PubMed ID: 3012775
PubMed ID: 3122181
Title: A novel missense mutation in the factor VIII gene identified by analysis of amplified hemophilia DNA sequences.
PubMed ID: 3122181
PubMed ID: 2833855
Title: Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides.
PubMed ID: 2833855
PubMed ID: 2835904
Title: Moderately severe hemophilia A resulting from Glu-->Gly substitution in exon 7 of the factor VIII gene.
PubMed ID: 2835904
PubMed ID: 2499363
Title: Purification and characterization of factor VIII 1,689-Cys: a nonfunctional cofactor occurring in a patient with severe hemophilia A.
PubMed ID: 2499363
PubMed ID: 2506948
Title: An arginine to cysteine amino acid substitution at a critical thrombin cleavage site in a dysfunctional factor VIII molecule.
PubMed ID: 2506948
PubMed ID: 2510835
Title: A novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia A.
PubMed ID: 2510835
PubMed ID: 2495245
Title: Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene.
PubMed ID: 2495245
DOI: 10.1007/bf00283686
PubMed ID: 2498882
Title: Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372-->histidine).
PubMed ID: 2498882
PubMed ID: 2104766
Title: Characterization of a thrombin cleavage site mutation (Arg 1689 to Cys) in the factor VIII gene of two unrelated patients with cross-reacting material-positive hemophilia A.
PubMed ID: 2104766
PubMed ID: 2105106
Title: Recurrent mutations and three novel rearrangements in the factor VIII gene of hemophilia A patients of Italian descent.
PubMed ID: 2105106
PubMed ID: 1973901
Title: CRM+ haemophilia A due to a missense mutation (372-->Cys) at the internal heavy chain thrombin cleavage site.
PubMed ID: 1973901
PubMed ID: 2105906
Title: Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA.
PubMed ID: 2105906
PubMed ID: 2106480
Title: Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene.
PubMed ID: 2106480
PubMed ID: 2107542
Title: Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis.
PubMed ID: 2107542
PubMed ID: 1908817
Title: Identification of mutations in two families with sporadic hemophilia A.
PubMed ID: 1908817
DOI: 10.1007/bf00197155
PubMed ID: 1908096
Title: Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene.
PubMed ID: 1908096
PubMed ID: 1924291
Title: Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis.
PubMed ID: 1924291
PubMed ID: 1851341
Title: Detection and characterisation of two missense mutations at a cleavage site in the factor VIII light chain.
PubMed ID: 1851341
PubMed ID: 1356412
Title: GAA(Glu)272->AAA(Lys) and CGA(Arg)1941->CAA(Gln) in the factor VIII gene in two haemophilia A patients of Czech origin.
PubMed ID: 1356412
PubMed ID: 1639429
Title: Detection of mutations in the factor VIII gene using single-stranded conformational polymorphism (SSCP).
PubMed ID: 1639429
PubMed ID: 1349567
Title: Screening for nonsense mutations in patients with severe hemophilia A can provide rapid, direct carrier detection.
PubMed ID: 1349567
DOI: 10.1007/bf00207049
PubMed ID: 1301194
Title: A novel mutation (Arg-->Leu in exon 18) in factor VIII gene responsible for moderate hemophilia A.
PubMed ID: 1301194
PubMed ID: 1301932
Title: Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and moderately severe hemophilia A.
PubMed ID: 1301932
PubMed ID: 1301960
Title: Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresis.
PubMed ID: 1301960
PubMed ID: 8449505
Title: Spectrum of mutations in CRM-positive and CRM-reduced hemophilia A.
PubMed ID: 8449505
PubMed ID: 8322269
Title: Double strand conformation polymorphism (DSCP) detects two point mutations at codon 280 (AAC-->ATC) and at codon 431 (TAC-->AAC) of the blood coagulation factor VIII gene.
PubMed ID: 8322269
PubMed ID: 7579394
Title: Eleven novel mutations in the factor VIII gene from Brazilian hemophilia A patients.
PubMed ID: 7579394
PubMed ID: 7794769
Title: Screening for mutations in haemophilia A patients by multiplex PCR-SSCP, Southern blotting and RNA analysis: the detection of a genetic abnormality in the factor VIII gene in 30 out of 35 patients.
PubMed ID: 7794769
PubMed ID: 7759074
Title: Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with phenotype.
PubMed ID: 7759074
DOI: 10.1007/bf00223865
PubMed ID: 8644728
Title: Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.
PubMed ID: 8644728
PubMed ID: 8639447
Title: Molecular characterization of haemophilia A in southern Chinese.
PubMed ID: 8639447
PubMed ID: 8759905
Title: Mutations in a subgroup of patients with mild haemophilia A and a familial discrepancy between the one-stage and two-stage factor VIII:C methods.
PubMed ID: 8759905
PubMed ID: 9029040
Title: Mutations in the FVIII gene in seven families with mild haemophilia A.
PubMed ID: 9029040
PubMed ID: 9326186
Title: Factor VIII gene analysis in Japanese CRM-positive and CRM-reduced haemophilia A patients by single-strand conformation polymorphism.
PubMed ID: 9326186
PubMed ID: 9341862
Title: Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel point mutations.
PubMed ID: 9341862
PubMed ID: 9886318
Title: A domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII proteins.
PubMed ID: 9886318
PubMed ID: 9450898
Title: Protein truncation test: detection of severe haemophilia a mutation and analysis of factor VIII transcripts.
PubMed ID: 9450898
DOI: 10.1002/(sici)1098-1004(1998)11:1<18::aid-humu3>3.0.co;2-h
PubMed ID: 10215414
Title: Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with haemophilia A with different phenotypes.
PubMed ID: 10215414
DOI: 10.1002/(sici)1098-1004(1998)11:4<334::aid-humu20>3.0.co;2-#
PubMed ID: 9603440
Title: Fluorescent chemical cleavage of mismatches for efficient screening of the factor VIII gene.
PubMed ID: 9603440
DOI: 10.1002/(sici)1098-1004(1998)11:6<470::aid-humu8>3.0.co;2-a
PubMed ID: 9452104
Title: Identification of four novel mutations in the factor VIII gene: three missense mutations (E1875G, G2088S, I2185T) and a 2-bp deletion (1780delTC).
PubMed ID: 9452104
PubMed ID: 9792405
Title: Molecular diagnostics of 15 hemophilia A patients: characterization of eight novel mutations in the factor VIII gene, two of which result in exon skipping.
PubMed ID: 9792405
DOI: 10.1002/(sici)1098-1004(1998)12:5<301::aid-humu2>3.0.co;2-g
PubMed ID: 9829908
Title: Use of denaturing gradient gel blots to screen for point mutations in the factor VIII gene.
PubMed ID: 9829908
DOI: 10.1002/(sici)1098-1004(1998)12:6<393::aid-humu5>3.0.co;2-a
PubMed ID: 9569180
Title: Precise carrier diagnosis in families with haemophilia A: use of conformation sensitive gel electrophoresis for mutation screening and polymorphism analysis.
PubMed ID: 9569180
PubMed ID: 9569189
Title: Factor VIII inhibitors in mild and moderate-severity haemophilia A.
PubMed ID: 9569189
PubMed ID: 10554831
Title: Diagnostic importance of the two-stage factor VIII:C assay demonstrated by a case of mild haemophilia associated with His1954-->Leu substitution in the factor VIII A3 domain.
PubMed ID: 10554831
PubMed ID: 10338101
Title: Screen of 55 Slovenian haemophilia A patients: identification of 2 novel mutations (S-1R and IVS23+1G-->A) and discussion of mutation spectrum.
PubMed ID: 10338101
DOI: 10.1002/(sici)1098-1004(1999)13:5<413::aid-humu15>3.0.co;2-e
PubMed ID: 10408784
Title: Mutational-screening in the factor VIII gene resulting in the identification of three novel mutations, one of which is a donor splice mutation.
PubMed ID: 10408784
DOI: 10.1002/(sici)1098-1004(1999)13:6<504::aid-humu15>3.0.co;2-6
PubMed ID: 10404764
Title: Start of UK confidential haemophilia A database: analysis of 142 patients by solid phase fluorescent chemical cleavage of mismatch.
PubMed ID: 10404764
PubMed ID: 10910910
Title: A novel cause of mild/moderate hemophilia A: mutations scattered in the factor VIII C1 domain reduce factor VIII binding to von Willebrand factor.
PubMed ID: 10910910
PubMed ID: 10910913
Title: Hemophilic factor VIII C1- and C2-domain missense mutations and their modeling to the 1.5-angstrom human C2-domain crystal structure.
PubMed ID: 10910913
PubMed ID: 10691849
Title: Intracellular accumulation of factor VIII induced by missense mutations Arg593-->Cys and Asn618-->Ser explains cross-reacting material-reduced haemophilia A.
PubMed ID: 10691849
PubMed ID: 10886198
Title: Assay discrepancy in mild haemophilia A due to a factor VIII missense mutation (Asn694Ile) in a large Danish family.
PubMed ID: 10886198
PubMed ID: 10800171
Title: Experience of a single Italian center in genetic counseling for hemophilia: from linkage analysis to molecular diagnosis.
PubMed ID: 10800171
PubMed ID: 10896236
Title: Relationship between factor VIII mutation type and inhibitor development in a cohort of previously untreated patients treated with recombinant factor VIII (Recombinate).
PubMed ID: 10896236
PubMed ID: 10612839
Title: Mutations of the factor VIII gene in Thai hemophilia A patients.
PubMed ID: 10612839
DOI: 10.1002/(sici)1098-1004(200001)15:1<117::aid-humu27>3.0.co;2-e
PubMed ID: 11410838
Title: Somatic mosaicism in hemophilia A: a fairly common event.
PubMed ID: 11410838
DOI: 10.1086/321285
PubMed ID: 11298607
Title: Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data.
PubMed ID: 11298607
PubMed ID: 11442643
Title: Site and type of mutations in the factor VIII gene in patients and carriers of haemophilia A.
PubMed ID: 11442643
PubMed ID: 11442647
Title: Mild haemophilia A discovered in a previously multi-operated 73-year-old man: characterization of a new mutation.
PubMed ID: 11442647
PubMed ID: 11554935
Title: Molecular pathology of haemophilia A in Turkish patients: identification of 36 independent mutations.
PubMed ID: 11554935
PubMed ID: 11748850
Title: Seven novel and four recurrent point mutations in the factor VIII (F8C) gene.
PubMed ID: 11748850
DOI: 10.1002/humu.1234
PubMed ID: 11341489
Title: Rapid hemophilia A molecular diagnosis by a simple DNA sequencing procedure: identification of 14 novel mutations.
PubMed ID: 11341489
PubMed ID: 12351418
Title: Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A.
PubMed ID: 12351418
PubMed ID: 12406074
Title: Factor VIII deficiency not induced by FVIII gene mutation in a female first cousin of two brothers with haemophilia A.
PubMed ID: 12406074
PubMed ID: 12199686
Title: Three novel point mutations causing haemophilia A.
PubMed ID: 12199686
PubMed ID: 11857744
Title: The identification and classification of 41 novel mutations in the factor VIII gene (F8C).
PubMed ID: 11857744
DOI: 10.1002/humu.10056
PubMed ID: 12203998
Title: Identification of seven novel mutations of F8C by DHPLC.
PubMed ID: 12203998
DOI: 10.1002/humu.9052
PubMed ID: 12325022
Title: High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation.
PubMed ID: 12325022
DOI: 10.1002/humu.10119
PubMed ID: 11858487
Title: Non-inversion factor VIII mutations in 80 hemophilia A families including 24 with alloimmune responses.
PubMed ID: 11858487
PubMed ID: 12195713
Title: 11 hemophilia A patients without mutations in the factor VIII encoding gene.
PubMed ID: 12195713
PubMed ID: 12930394
Title: Analysis of 18 novel mutations in the factor VIII gene.
PubMed ID: 12930394
PubMed ID: 12871415
Title: Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE: modeling of 13 novel amino acid substitutions.
PubMed ID: 12871415
PubMed ID: 12614369
Title: Genotype and phenotype of haemophilia A in Thai patients.
PubMed ID: 12614369
PubMed ID: 15682412
Title: Small FVIII gene rearrangements in 18 hemophilia A patients: five novel mutations.
PubMed ID: 15682412
DOI: 10.1002/ajh.20234
PubMed ID: 15810915
Title: Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype.
PubMed ID: 15810915
PubMed ID: 16805874
Title: Female haemophilia A heterozygous for a de novo frameshift and a novel missense mutation of factor VIII.
PubMed ID: 16805874
PubMed ID: 18184865
Title: Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites.
PubMed ID: 18184865
PubMed ID: 21371196
Title: Identification of factor VIII gene mutations in patients with severe haemophilia A in Venezuela: identification of seven novel mutations.
PubMed ID: 21371196
Sequence Information:
- Length: 2351
- Mass: 267009
- Checksum: 75FB6A2955C74CB0
- Sequence:
MQIELSTCFF LCLLRFCFSA TRRYYLGAVE LSWDYMQSDL GELPVDARFP PRVPKSFPFN TSVVYKKTLF VEFTDHLFNI AKPRPPWMGL LGPTIQAEVY DTVVITLKNM ASHPVSLHAV GVSYWKASEG AEYDDQTSQR EKEDDKVFPG GSHTYVWQVL KENGPMASDP LCLTYSYLSH VDLVKDLNSG LIGALLVCRE GSLAKEKTQT LHKFILLFAV FDEGKSWHSE TKNSLMQDRD AASARAWPKM HTVNGYVNRS LPGLIGCHRK SVYWHVIGMG TTPEVHSIFL EGHTFLVRNH RQASLEISPI TFLTAQTLLM DLGQFLLFCH ISSHQHDGME AYVKVDSCPE EPQLRMKNNE EAEDYDDDLT DSEMDVVRFD DDNSPSFIQI RSVAKKHPKT WVHYIAAEEE DWDYAPLVLA PDDRSYKSQY LNNGPQRIGR KYKKVRFMAY TDETFKTREA IQHESGILGP LLYGEVGDTL LIIFKNQASR PYNIYPHGIT DVRPLYSRRL PKGVKHLKDF PILPGEIFKY KWTVTVEDGP TKSDPRCLTR YYSSFVNMER DLASGLIGPL LICYKESVDQ RGNQIMSDKR NVILFSVFDE NRSWYLTENI QRFLPNPAGV QLEDPEFQAS NIMHSINGYV FDSLQLSVCL HEVAYWYILS IGAQTDFLSV FFSGYTFKHK MVYEDTLTLF PFSGETVFMS MENPGLWILG CHNSDFRNRG MTALLKVSSC DKNTGDYYED SYEDISAYLL SKNNAIEPRS FSQNSRHPST RQKQFNATTI PENDIEKTDP WFAHRTPMPK IQNVSSSDLL MLLRQSPTPH GLSLSDLQEA KYETFSDDPS PGAIDSNNSL SEMTHFRPQL HHSGDMVFTP ESGLQLRLNE KLGTTAATEL KKLDFKVSST SNNLISTIPS DNLAAGTDNT SSLGPPSMPV HYDSQLDTTL FGKKSSPLTE SGGPLSLSEE NNDSKLLESG LMNSQESSWG KNVSSTESGR LFKGKRAHGP ALLTKDNALF KVSISLLKTN KTSNNSATNR KTHIDGPSLL IENSPSVWQN ILESDTEFKK VTPLIHDRML MDKNATALRL NHMSNKTTSS KNMEMVQQKK EGPIPPDAQN PDMSFFKMLF LPESARWIQR THGKNSLNSG QGPSPKQLVS LGPEKSVEGQ NFLSEKNKVV VGKGEFTKDV GLKEMVFPSS RNLFLTNLDN LHENNTHNQE KKIQEEIEKK ETLIQENVVL PQIHTVTGTK NFMKNLFLLS TRQNVEGSYD GAYAPVLQDF RSLNDSTNRT KKHTAHFSKK GEEENLEGLG NQTKQIVEKY ACTTRISPNT SQQNFVTQRS KRALKQFRLP LEETELEKRI IVDDTSTQWS KNMKHLTPST LTQIDYNEKE KGAITQSPLS DCLTRSHSIP QANRSPLPIA KVSSFPSIRP IYLTRVLFQD NSSHLPAASY RKKDSGVQES SHFLQGAKKN NLSLAILTLE MTGDQREVGS LGTSATNSVT YKKVENTVLP KPDLPKTSGK VELLPKVHIY QKDLFPTETS NGSPGHLDLV EGSLLQGTEG AIKWNEANRP GKVPFLRVAT ESSAKTPSKL LDPLAWDNHY GTQIPKEEWK SQEKSPEKTA FKKKDTILSL NACESNHAIA AINEGQNKPE IEVTWAKQGR TERLCSQNPP VLKRHQREIT RTTLQSDQEE IDYDDTISVE MKKEDFDIYD EDENQSPRSF QKKTRHYFIA AVERLWDYGM SSSPHVLRNR AQSGSVPQFK KVVFQEFTDG SFTQPLYRGE LNEHLGLLGP YIRAEVEDNI MVTFRNQASR PYSFYSSLIS YEEDQRQGAE PRKNFVKPNE TKTYFWKVQH HMAPTKDEFD CKAWAYFSDV DLEKDVHSGL IGPLLVCHTN TLNPAHGRQV TVQEFALFFT IFDETKSWYF TENMERNCRA PCNIQMEDPT FKENYRFHAI NGYIMDTLPG LVMAQDQRIR WYLLSMGSNE NIHSIHFSGH VFTVRKKEEY KMALYNLYPG VFETVEMLPS KAGIWRVECL IGEHLHAGMS TLFLVYSNKC QTPLGMASGH IRDFQITASG QYGQWAPKLA RLHYSGSINA WSTKEPFSWI KVDLLAPMII HGIKTQGARQ KFSSLYISQF IIMYSLDGKK WQTYRGNSTG TLMVFFGNVD SSGIKHNIFN PPIIARYIRL HPTHYSIRST LRMELMGCDL NSCSMPLGME SKAISDAQIT ASSYFTNMFA TWSPSKARLH LQGRSNAWRP QVNNPKEWLQ VDFQKTMKVT GVTTQGVKSL LTSMYVKEFL ISSSQDGHQW TLFFQNGKVK VFQGNQDSFT PVVNSLDPPL LTRYLRIHPQ SWVHQIALRM EVLGCEAQDL Y
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. For the full schema, download it here.