FGB (fibrinogen beta chain) - Rat Genome Database

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Gene: FGB (fibrinogen beta chain) Homo sapiens
Analyze
Symbol: FGB
Name: fibrinogen beta chain
RGD ID: 734251
HGNC Page HGNC
Description: Enables chaperone binding activity and structural molecule activity. Contributes to cell adhesion molecule binding activity and signaling receptor binding activity. Involved in several processes, including blood coagulation; negative regulation of apoptotic process; and positive regulation of secretion by cell. Located in several cellular components, including endoplasmic reticulum; external side of plasma membrane; and platelet alpha granule. Part of fibrinogen complex. Implicated in cardiovascular system disease (multiple); congenital afibrinogenemia; and end stage renal disease. Biomarker of type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: beta-fibrinogen; epididymis secretory sperm binding protein Li 78p; fibrinogen, B beta polypeptide; fibrinogen, beta polypeptide; HEL-S-78p; MGC104327; MGC120405
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for disease process.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384154,562,980 - 154,572,807 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl4154,563,011 - 154,572,807 (+)EnsemblGRCh38hg38GRCh38
GRCh374155,484,132 - 155,493,959 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364155,703,596 - 155,711,688 (+)NCBINCBI36hg18NCBI36
Build 344155,841,767 - 155,849,841NCBI
Celera4152,815,112 - 152,824,894 (+)NCBI
Cytogenetic Map4q31.3NCBI
HuRef4151,224,828 - 151,234,610 (+)NCBIHuRef
CHM1_14155,462,053 - 155,471,836 (+)NCBICHM1_1
T2T-CHM13v2.04157,894,764 - 157,904,590 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
acetamide  (ISO)
acetylsalicylic acid  (EXP)
acrylamide  (ISO)
ADP  (EXP)
aluminium oxide  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
aniline  (ISO)
arotinoid acid  (EXP)
Azaspiracid  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (EXP)
bexarotene  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
cadmium dichloride  (ISO)
carbon monoxide  (EXP)
carbon nanotube  (ISO)
cefaloridine  (ISO)
CHIR 99021  (EXP)
chromium trinitrate  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt dichloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
cortisol  (EXP)
crocidolite asbestos  (EXP)
cycloheximide  (ISO)
cyclosporin A  (EXP,ISO)
cylindrospermopsin  (ISO)
dabigatran  (ISO)
dexamethasone  (ISO)
diclofenac  (ISO)
dicrotophos  (EXP)
dienogest  (EXP)
dioxygen  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
erythromycin estolate  (ISO)
fenofibrate  (ISO)
fenvalerate  (ISO)
furan  (ISO)
genistein  (ISO)
gentamycin  (ISO)
gestodene  (EXP)
L-ascorbic acid  (EXP)
L-ascorbic acid 2-phosphate  (EXP)
lead diacetate  (ISO)
levonorgestrel  (EXP)
lithocholic acid  (ISO)
mercury dibromide  (EXP)
methidathion  (ISO)
methoxychlor  (ISO)
methylmercury chloride  (EXP)
N-nitrosomorpholine  (ISO)
nefazodone  (ISO)
nitrofen  (ISO)
norethisterone  (EXP)
norgestimate  (EXP)
O-methyleugenol  (EXP)
ochratoxin A  (EXP)
paclitaxel  (ISO)
paracetamol  (EXP,ISO)
pentanal  (EXP)
perfluorobutanesulfonic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
phorbol 13-acetate 12-myristate  (ISO)
pirinixic acid  (ISO)
potassium bromate  (ISO)
potassium chromate  (ISO)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
propanal  (EXP)
quercetin  (EXP)
quinidine  (ISO)
Rebamipide  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
sirolimus  (ISO)
sodium arsenite  (EXP,ISO)
tacrolimus hydrate  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
theophylline  (ISO)
titanium dioxide  (ISO)
tremolite asbestos  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
Triptolide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
valproic acid  (EXP)
XAV939  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. The genetic association database. Becker KG, etal., Nat Genet. 2004 May;36(5):431-2.
2. Beta fibrinogen gene polymorphisms are associated with plasma fibrinogen and coronary artery disease in patients with myocardial infarction. The ECTIM Study. Etude Cas-Temoins sur l'Infarctus du Myocarde. Behague I, etal., Circulation. 1996 Feb 1;93(3):440-9.
3. Associations between common fibrinogen gene polymorphisms and cardiovascular disease in older adults. The Cardiovascular Health Study. Carty CL, etal., Thromb Haemost. 2008 Feb;99(2):388-95.
4. Quantitative organellar proteomics analysis of rough endoplasmic reticulum from normal and acute pancreatitis rat pancreas. Chen X, etal., J Proteome Res. 2010 Feb 5;9(2):885-96.
5. Fibrinogen polymorphisms are not associated with the risk of myocardial infarction. Doggen CJ, etal., Br J Haematol. 2000 Sep;110(4):935-8.
6. Positive association of the beta fibrinogen H1/H2 gene variation to basal fibrinogen levels and to the increase in fibrinogen concentration during acute phase reaction but not to coronary artery disease and myocardial infarction. Gardemann A, etal., Thromb Haemost. 1997 Jun;77(6):1120-6.
7. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
8. Epistatic effect of plasminogen activator inhibitor 1 and beta-fibrinogen genes on risk of glomerular microthrombosis in lupus nephritis: interaction with environmental/clinical factors. Gong R, etal., Arthritis Rheum. 2007 May;56(5):1608-17.
9. Mechanisms of severe acute respiratory syndrome coronavirus-induced acute lung injury. Gralinski LE, etal., mBio. 2013 Aug 6;4(4). pii: mBio.00271-13. doi: 10.1128/mBio.00271-13.
10. [Clinical and genetic analysis of 8 Chinese pedigrees with inherited dysfibrinogenemia]. Jiang M, etal., Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Apr;31(2):134-9. doi: 10.3760/cma.j.issn.1003-9406.2014.02.002.
11. Haemostatic abnormalities persist despite glycaemic improvement by insulin therapy in lean type 2 diabetic patients. Knobl P, etal., Thromb Haemost. 1994 Jun;71(6):692-7.
12. Fibrinogen beta-derived Bbeta(15-42) peptide protects against kidney ischemia/reperfusion injury. Krishnamoorthy A, etal., Blood. 2011 Aug 18;118(7):1934-42. Epub 2011 Jun 17.
13. Basic mechanisms and regulation of fibrinolysis. Longstaff C and Kolev K, J Thromb Haemost. 2015 Jun;13 Suppl 1:S98-105. doi: 10.1111/jth.12935.
14. [The inherited procoagulant and prothrombotic condition as the main etiological factor for ischemic stroke in infants]. Lvova OA, etal., Zh Nevrol Psikhiatr Im S S Korsakova. 2013;113(9 Pt 2):13-20.
15. Antihypertensive pharmacogenetic effect of fibrinogen-beta variant -455G>A on cardiovascular disease, end-stage renal disease, and mortality: the GenHAT study. Lynch AI, etal., Pharmacogenet Genomics. 2009 Jun;19(6):415-21.
16. Fibrinogen and fibrin structure and functions. Mosesson MW J Thromb Haemost. 2005 Aug;3(8):1894-904.
17. Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family. Neerman-Arbez M, etal., Blood. 2003 May 1;101(9):3492-4. Epub 2003 Jan 2.
18. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
19. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
20. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
21. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
22. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
23. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
24. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
25. Beta-fibrinogen gene polymorphism (C148-->T) is associated with carotid atherosclerosis: results of the Austrian Stroke Prevention Study. Schmidt H, etal., Arterioscler Thromb Vasc Biol. 1998 Mar;18(3):487-92.
26. Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta-chain gene causing activation of cryptic splice sites. Spena S, etal., Blood 2002 Dec 15;100(13):4478-84. Epub 2002 Aug 1.
27. Proteomics of microparticles after experimental pulmonary embolism. Watts JA, etal., Thromb Res. 2011 Oct 17.
28. Bcl I polymorphism in the fibrinogen beta-chain gene is associated with the risk of familial myocardial infarction by increasing plasma fibrinogen levels. A case-control study in a sample of GISSI-2 patients. Zito F, etal., Arterioscler Thromb Vasc Biol. 1997 Dec;17(12):3489-94.
Additional References at PubMed
PMID:156564   PMID:420779   PMID:891553   PMID:936108   PMID:1565641   PMID:1634610   PMID:1680863   PMID:2018836   PMID:2102623   PMID:2322576   PMID:2572363   PMID:2742826  
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PMID:9182580   PMID:9224210   PMID:9333233   PMID:9351824   PMID:9628725   PMID:9787167   PMID:10074346   PMID:10391209   PMID:10467729   PMID:10605720   PMID:10666208   PMID:10766195  
PMID:10903502   PMID:10980194   PMID:11027931   PMID:11293402   PMID:11296154   PMID:11460506   PMID:11460528   PMID:11468164   PMID:11546832   PMID:11588042   PMID:11714857   PMID:11728146  
PMID:11798781   PMID:11833854   PMID:11836675   PMID:11858186   PMID:11877019   PMID:11940334   PMID:12048138   PMID:12082590   PMID:12082592   PMID:12122980   PMID:12141403   PMID:12151156  
PMID:12161363   PMID:12356313   PMID:12406024   PMID:12477932   PMID:12514663   PMID:12518110   PMID:12578626   PMID:12615788   PMID:12616980   PMID:12617173   PMID:12624729   PMID:12637691  
PMID:12665801   PMID:12706644   PMID:12710752   PMID:12716802   PMID:12747593   PMID:12871600   PMID:12878203   PMID:12893758   PMID:12899665   PMID:14618197   PMID:14629463   PMID:14629469  
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PMID:15213870   PMID:15217804   PMID:15300640   PMID:15346842   PMID:15489334   PMID:15575509   PMID:15583729   PMID:15608011   PMID:15631828   PMID:15671034   PMID:15709716   PMID:15723073  
PMID:15735811   PMID:15735812   PMID:15737987   PMID:15739255   PMID:15793786   PMID:15795538   PMID:15795540   PMID:15842357   PMID:15857159   PMID:15939070   PMID:15968394   PMID:15983960  
PMID:16005629   PMID:16049588   PMID:16080811   PMID:16086292   PMID:16144795   PMID:16157382   PMID:16195396   PMID:16215953   PMID:16263699   PMID:16324093   PMID:16335952   PMID:16353042  
PMID:16409729   PMID:16420563   PMID:16443328   PMID:16466010   PMID:16489740   PMID:16502470   PMID:16525568   PMID:16525569   PMID:16567932   PMID:16581250   PMID:16601848   PMID:16604498  
PMID:16611940   PMID:16614319   PMID:16635210   PMID:16697386   PMID:16706972   PMID:16750002   PMID:16767673   PMID:16776623   PMID:16846481   PMID:16899909   PMID:16928957   PMID:16938111  
PMID:16940416   PMID:16953282   PMID:17003923   PMID:17111197   PMID:17115186   PMID:17116333   PMID:17126309   PMID:17160939   PMID:17230042   PMID:17263791   PMID:17264952   PMID:17414213  
PMID:17497226   PMID:17582472   PMID:17591786   PMID:17637253   PMID:17643375   PMID:17688324   PMID:17849064   PMID:17925485   PMID:17951283   PMID:17994314   PMID:18000621   PMID:18029348  
PMID:18057060   PMID:18173921   PMID:18188987   PMID:18202324   PMID:18253477   PMID:18284606   PMID:18331453   PMID:18334738   PMID:18434720   PMID:18503143   PMID:18511872   PMID:18513389  
PMID:18676163   PMID:18683729   PMID:18685811   PMID:18726528   PMID:18772067   PMID:18803625   PMID:18818200   PMID:18836720   PMID:18841297   PMID:18842294   PMID:18848323   PMID:18853456  
PMID:18927546   PMID:18930220   PMID:18936436   PMID:18974842   PMID:18977990   PMID:18982866   PMID:19056482   PMID:19072566   PMID:19131662   PMID:19136375   PMID:19143925   PMID:19190816  
PMID:19193866   PMID:19227305   PMID:19229055   PMID:19238444   PMID:19264644   PMID:19272152   PMID:19332210   PMID:19395327   PMID:19404555   PMID:19409601   PMID:19420105   PMID:19420351  
PMID:19431272   PMID:19479237   PMID:19508823   PMID:19559392   PMID:19560472   PMID:19578796   PMID:19593947   PMID:19682239   PMID:19750100   PMID:19811441   PMID:19860767   PMID:19892918  
PMID:19899640   PMID:19906129   PMID:19913121   PMID:19923980   PMID:19948975   PMID:19954614   PMID:19956635   PMID:19996109   PMID:20031576   PMID:20031577   PMID:20036902   PMID:20051843  
PMID:20059469   PMID:20064497   PMID:20075509   PMID:20078877   PMID:20079495   PMID:20082208   PMID:20128871   PMID:20135074   PMID:20162731   PMID:20167083   PMID:20237496   PMID:20360068  
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PMID:20873219   PMID:20978265   PMID:21034162   PMID:21054877   PMID:21098282   PMID:21122273   PMID:21160146   PMID:21241403   PMID:21258858   PMID:21296900   PMID:21316837   PMID:21420681  
PMID:21499712   PMID:21713329   PMID:21725578   PMID:21757653   PMID:21800007   PMID:21873635   PMID:21900206   PMID:21988832   PMID:22053176   PMID:22273812   PMID:22293628   PMID:22386478  
PMID:22489912   PMID:22516433   PMID:22552295   PMID:22575419   PMID:22642105   PMID:22836683   PMID:22889670   PMID:23056168   PMID:23061815   PMID:23129316   PMID:23144326   PMID:23238100  
PMID:23376485   PMID:23467586   PMID:23533145   PMID:23650004   PMID:23750785   PMID:23852822   PMID:23877568   PMID:23931975   PMID:23958299   PMID:23969696   PMID:24040290   PMID:24041635  
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PMID:25037231   PMID:25204086   PMID:25280629   PMID:25384698   PMID:25398500   PMID:25413489   PMID:25555432   PMID:25809477   PMID:25867317   PMID:25890854   PMID:25896470   PMID:25981141  
PMID:26006300   PMID:26011420   PMID:26077345   PMID:26186194   PMID:26308135   PMID:26317125   PMID:26499778   PMID:26628300   PMID:26833718   PMID:27028649   PMID:27044366   PMID:27090576  
PMID:27150313   PMID:27164460   PMID:27221710   PMID:27231021   PMID:27553289   PMID:27738342   PMID:27760719   PMID:27812779   PMID:27824214   PMID:27834463   PMID:27929198   PMID:28039323  
PMID:28064398   PMID:28306188   PMID:28327460   PMID:28344315   PMID:28350862   PMID:28437098   PMID:28514442   PMID:28603947   PMID:28621233   PMID:28675934   PMID:28902428   PMID:29134563  
PMID:29156616   PMID:29165755   PMID:29235504   PMID:29240685   PMID:29286337   PMID:29509190   PMID:29688408   PMID:29735542   PMID:29748775   PMID:29987050   PMID:30021884   PMID:30039577  
PMID:30503677   PMID:30838756   PMID:31295712   PMID:31354890   PMID:31713292   PMID:31753913   PMID:31770277   PMID:32126779   PMID:32239963   PMID:32286477   PMID:32289806   PMID:32472113  
PMID:32545848   PMID:32562089   PMID:32610551   PMID:32877852   PMID:33194618   PMID:33322044   PMID:33845483   PMID:33901106   PMID:33961781   PMID:34061326   PMID:34460979   PMID:34583575  
PMID:34783023   PMID:35054908   PMID:35469231  


Genomics

Comparative Map Data
FGB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384154,562,980 - 154,572,807 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl4154,563,011 - 154,572,807 (+)EnsemblGRCh38hg38GRCh38
GRCh374155,484,132 - 155,493,959 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364155,703,596 - 155,711,688 (+)NCBINCBI36hg18NCBI36
Build 344155,841,767 - 155,849,841NCBI
Celera4152,815,112 - 152,824,894 (+)NCBI
Cytogenetic Map4q31.3NCBI
HuRef4151,224,828 - 151,234,610 (+)NCBIHuRef
CHM1_14155,462,053 - 155,471,836 (+)NCBICHM1_1
T2T-CHM13v2.04157,894,764 - 157,904,590 (+)NCBI
Fgb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39382,949,553 - 82,957,170 (-)NCBIGRCm39mm39
GRCm39 Ensembl382,947,448 - 82,957,170 (-)Ensembl
GRCm38383,042,246 - 83,049,863 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl383,040,141 - 83,049,863 (-)EnsemblGRCm38mm10GRCm38
MGSCv37382,846,225 - 82,853,712 (-)NCBIGRCm37mm9NCBIm37
MGSCv36383,128,230 - 83,135,717 (-)NCBImm8
Celera383,046,408 - 83,053,935 (-)NCBICelera
Cytogenetic Map3E3NCBI
cM Map336.98NCBI
Fgb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22168,394,901 - 168,402,863 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl2168,394,916 - 168,405,979 (-)Ensembl
Rnor_6.02182,028,044 - 182,035,026 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2182,027,115 - 182,038,178 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02201,442,664 - 201,449,657 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42174,768,193 - 174,775,102 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12174,718,265 - 174,725,209 (-)NCBI
Celera2162,422,542 - 162,429,467 (-)NCBICelera
Cytogenetic Map2q34NCBI
Fgb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554718,822,965 - 8,832,884 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554718,824,901 - 8,832,836 (-)NCBIChiLan1.0ChiLan1.0
FGB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.14158,747,659 - 158,755,766 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4158,747,659 - 158,755,766 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v04146,929,561 - 146,937,665 (+)NCBIMhudiblu_PPA_v0panPan3
FGB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11552,220,690 - 52,228,526 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1552,220,611 - 52,228,250 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1552,565,222 - 52,573,066 (+)NCBI
ROS_Cfam_1.01552,907,656 - 52,915,500 (+)NCBI
ROS_Cfam_1.0 Ensembl1552,907,681 - 52,915,468 (+)Ensembl
UMICH_Zoey_3.11552,162,583 - 52,170,431 (+)NCBI
UNSW_CanFamBas_1.01552,267,207 - 52,275,052 (+)NCBI
UU_Cfam_GSD_1.01552,581,569 - 52,589,416 (+)NCBI
Fgb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530138,233,115 - 38,240,864 (-)NCBI
SpeTri2.0NW_0049365761,306,076 - 1,313,485 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FGB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl874,594,255 - 74,607,360 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1874,598,170 - 74,607,409 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2878,952,697 - 78,961,938 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FGB
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.17101,106,468 - 101,114,566 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl7101,106,483 - 101,114,662 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603780,761,750 - 80,769,888 (+)NCBIVero_WHO_p1.0
Fgb
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248585,864,784 - 5,874,869 (-)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_0046248585,866,104 - 5,874,173 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
D4S2883  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,491,734 - 155,491,911UniSTSGRCh37
Build 364155,711,184 - 155,711,361RGDNCBI36
Celera4152,822,713 - 152,822,890RGD
Cytogenetic Map4q28UniSTS
HuRef4151,232,429 - 151,232,606UniSTS
TNG Radiation Hybrid Map493077.0UniSTS
GeneMap99-GB4 RH Map4633.96UniSTS
Whitehead-RH Map4687.5UniSTS
Whitehead-YAC Contig Map4 UniSTS
SHGC-59327  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,489,658 - 155,489,799UniSTSGRCh37
Build 364155,709,108 - 155,709,249RGDNCBI36
Celera4152,820,638 - 152,820,779RGD
Cytogenetic Map4q28UniSTS
HuRef4151,230,354 - 151,230,495UniSTS
TNG Radiation Hybrid Map493077.0UniSTS
GeneMap99-GB4 RH Map4633.75UniSTS
Whitehead-RH Map4686.4UniSTS
NCBI RH Map41584.6UniSTS
G44712  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,491,696 - 155,491,810UniSTSGRCh37
Build 364155,711,146 - 155,711,260RGDNCBI36
Celera4152,822,675 - 152,822,789RGD
Cytogenetic Map4q28UniSTS
HuRef4151,232,391 - 151,232,505UniSTS
G54120  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,490,738 - 155,490,899UniSTSGRCh37
Build 364155,710,188 - 155,710,349RGDNCBI36
Celera4152,821,717 - 152,821,878RGD
Cytogenetic Map4q28UniSTS
HuRef4151,231,433 - 151,231,594UniSTS
GDB:374037  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,482,985 - 155,484,284UniSTSGRCh37
Build 364155,702,435 - 155,703,734RGDNCBI36
Celera4152,813,965 - 152,815,264RGD
Cytogenetic Map4q28UniSTS
HuRef4151,223,681 - 151,224,980UniSTS
GDB:374038  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,485,205 - 155,485,912UniSTSGRCh37
Build 364155,704,655 - 155,705,362RGDNCBI36
Celera4152,816,185 - 152,816,892RGD
Cytogenetic Map4q28UniSTS
HuRef4151,225,901 - 151,226,608UniSTS
GDB:633014  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,491,687 - 155,492,000UniSTSGRCh37
Build 364155,711,137 - 155,711,450RGDNCBI36
Celera4152,822,666 - 152,822,979RGD
Cytogenetic Map4q28UniSTS
HuRef4151,232,382 - 151,232,695UniSTS
G20311  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,493,771 - 155,493,872UniSTSGRCh37
Build 364155,713,221 - 155,713,322RGDNCBI36
Celera4152,824,750 - 152,824,851RGD
Cytogenetic Map4q28UniSTS
HuRef4151,234,466 - 151,234,567UniSTS
A005L26  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,493,771 - 155,493,872UniSTSGRCh37
Build 364155,713,221 - 155,713,322RGDNCBI36
Celera4152,824,750 - 152,824,851RGD
Cytogenetic Map4q28UniSTS
HuRef4151,234,466 - 151,234,567UniSTS
GeneMap99-GB4 RH Map4635.9UniSTS
NCBI RH Map41584.6UniSTS
SHGC-33093  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,493,815 - 155,493,940UniSTSGRCh37
Build 364155,713,265 - 155,713,390RGDNCBI36
Celera4152,824,794 - 152,824,919RGD
Cytogenetic Map4q28UniSTS
HuRef4151,234,510 - 151,234,635UniSTS
TNG Radiation Hybrid Map493077.0UniSTS
Stanford-G3 RH Map48532.0UniSTS
GeneMap99-GB4 RH Map4634.45UniSTS
Whitehead-RH Map4686.4UniSTS
NCBI RH Map41584.6UniSTS
GeneMap99-G3 RH Map48457.0UniSTS
SHGC-59513  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,487,040 - 155,487,146UniSTSGRCh37
Build 364155,706,490 - 155,706,596RGDNCBI36
Celera4152,818,020 - 152,818,126RGD
Cytogenetic Map4q28UniSTS
HuRef4151,227,736 - 151,227,842UniSTS
GeneMap99-GB4 RH Map4635.8UniSTS
RH11045  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,491,784 - 155,492,095UniSTSGRCh37
Build 364155,711,234 - 155,711,545RGDNCBI36
Celera4152,822,763 - 152,823,074RGD
Cytogenetic Map4q28UniSTS
HuRef4151,232,479 - 151,232,790UniSTS
GeneMap99-GB4 RH Map4635.8UniSTS
NCBI RH Map41584.6UniSTS
G33709  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,491,763 - 155,491,911UniSTSGRCh37
Build 364155,711,213 - 155,711,361RGDNCBI36
Celera4152,822,742 - 152,822,890RGD
Cytogenetic Map4q28UniSTS
HuRef4151,232,458 - 151,232,606UniSTS
SHGC-67362  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,492,283 - 155,492,385UniSTSGRCh37
Build 364155,711,733 - 155,711,835RGDNCBI36
Celera4152,823,262 - 152,823,364RGD
Cytogenetic Map4q28UniSTS
HuRef4151,232,978 - 151,233,080UniSTS
GeneMap99-GB4 RH Map4635.8UniSTS
NCBI RH Map41584.6UniSTS
RH36633  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,490,566 - 155,490,731UniSTSGRCh37
Build 364155,710,016 - 155,710,181RGDNCBI36
Celera4152,821,545 - 152,821,710RGD
Cytogenetic Map4q28UniSTS
HuRef4151,231,261 - 151,231,426UniSTS
GeneMap99-GB4 RH Map4635.9UniSTS
NCBI RH Map41584.6UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR409hsa-miR-409-3pMirtarbaseexternal_infoELISA//Flow//Luciferase reporter assayFunctional MTI20570858
MIR29Chsa-miR-29c-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI20570858

Predicted Target Of
Summary Value
Count of predictions:726
Count of miRNA genes:482
Interacting mature miRNAs:511
Transcripts:ENST00000302068, ENST00000425838, ENST00000473984, ENST00000497097, ENST00000498375, ENST00000502545, ENST00000509493
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 1 410 410 2 410 8 1 4
Medium 85 41 48 38 42 38 28 6 7 96 25 42 10 12
Low 802 829 493 58 504 8 854 474 635 161 620 554 52 295 538 1
Below cutoff 832 1062 425 59 447 2 1406 814 1433 56 417 520 61 451 903

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001184741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC107385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF388026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI174804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC060040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC106760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC107766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU668333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J00129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J00133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB978082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M64983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  T74412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X05018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000302068   ⟹   ENSP00000306099
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4154,563,011 - 154,572,807 (+)Ensembl
RefSeq Acc Id: ENST00000425838   ⟹   ENSP00000398719
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4154,563,017 - 154,567,615 (+)Ensembl
RefSeq Acc Id: ENST00000473984
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4154,565,781 - 154,567,854 (+)Ensembl
RefSeq Acc Id: ENST00000497097
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4154,563,012 - 154,566,749 (+)Ensembl
RefSeq Acc Id: ENST00000498375
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4154,563,011 - 154,566,522 (+)Ensembl
RefSeq Acc Id: ENST00000502545
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4154,563,038 - 154,570,799 (+)Ensembl
RefSeq Acc Id: ENST00000509493   ⟹   ENSP00000426757
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4154,563,026 - 154,570,721 (+)Ensembl
RefSeq Acc Id: NM_001184741   ⟹   NP_001171670
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384154,562,980 - 154,572,763 (+)NCBI
GRCh374155,484,132 - 155,493,915 (+)ENTREZGENE
HuRef4151,224,828 - 151,234,610 (+)ENTREZGENE
CHM1_14155,462,053 - 155,471,836 (+)NCBI
T2T-CHM13v2.04157,894,764 - 157,904,546 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382759   ⟹   NP_001369688
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384154,563,011 - 154,572,807 (+)NCBI
T2T-CHM13v2.04157,894,795 - 157,904,590 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382760   ⟹   NP_001369689
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384154,563,011 - 154,572,807 (+)NCBI
T2T-CHM13v2.04157,894,795 - 157,904,590 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382761   ⟹   NP_001369690
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384154,563,011 - 154,572,807 (+)NCBI
T2T-CHM13v2.04157,894,795 - 157,904,590 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382762   ⟹   NP_001369691
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384154,563,011 - 154,572,807 (+)NCBI
T2T-CHM13v2.04157,894,795 - 157,904,590 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382763   ⟹   NP_001369692
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384154,563,011 - 154,572,807 (+)NCBI
T2T-CHM13v2.04157,894,795 - 157,904,590 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382764   ⟹   NP_001369693
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384154,563,011 - 154,572,807 (+)NCBI
T2T-CHM13v2.04157,894,795 - 157,904,590 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382765   ⟹   NP_001369694
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384154,563,011 - 154,572,807 (+)NCBI
T2T-CHM13v2.04157,894,795 - 157,904,590 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005141   ⟹   NP_005132
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384154,563,011 - 154,572,807 (+)NCBI
GRCh374155,484,132 - 155,493,915 (+)ENTREZGENE
Build 364155,703,596 - 155,711,688 (+)NCBI Archive
HuRef4151,224,828 - 151,234,610 (+)ENTREZGENE
CHM1_14155,462,053 - 155,471,836 (+)NCBI
T2T-CHM13v2.04157,894,795 - 157,904,590 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001171670 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369688 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369689 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369690 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369691 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369692 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369693 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369694 (Get FASTA)   NCBI Sequence Viewer  
  NP_005132 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA18024 (Get FASTA)   NCBI Sequence Viewer  
  AAA52429 (Get FASTA)   NCBI Sequence Viewer  
  AAA52445 (Get FASTA)   NCBI Sequence Viewer  
  AAA98115 (Get FASTA)   NCBI Sequence Viewer  
  AAA98116 (Get FASTA)   NCBI Sequence Viewer  
  AAH07030 (Get FASTA)   NCBI Sequence Viewer  
  AAI06761 (Get FASTA)   NCBI Sequence Viewer  
  AAI07767 (Get FASTA)   NCBI Sequence Viewer  
  AAK62470 (Get FASTA)   NCBI Sequence Viewer  
  ACF94486 (Get FASTA)   NCBI Sequence Viewer  
  BAG35810 (Get FASTA)   NCBI Sequence Viewer  
  BAG64745 (Get FASTA)   NCBI Sequence Viewer  
  CAA28674 (Get FASTA)   NCBI Sequence Viewer  
  CDL78902 (Get FASTA)   NCBI Sequence Viewer  
  EAX04930 (Get FASTA)   NCBI Sequence Viewer  
  EAX04931 (Get FASTA)   NCBI Sequence Viewer  
  EAX04932 (Get FASTA)   NCBI Sequence Viewer  
  EAX04933 (Get FASTA)   NCBI Sequence Viewer  
  EAX04934 (Get FASTA)   NCBI Sequence Viewer  
  EAX04935 (Get FASTA)   NCBI Sequence Viewer  
  EAX04936 (Get FASTA)   NCBI Sequence Viewer  
  EAX04937 (Get FASTA)   NCBI Sequence Viewer  
  EAX04938 (Get FASTA)   NCBI Sequence Viewer  
  EAX04939 (Get FASTA)   NCBI Sequence Viewer  
  P02675 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_005132   ⟸   NM_005141
- Peptide Label: isoform 1 preproprotein
- UniProtKB: P02675 (UniProtKB/Swiss-Prot),   V9HVY1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001171670   ⟸   NM_001184741
- Peptide Label: isoform 2 preproprotein
- UniProtKB: P02675 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001369690   ⟸   NM_001382761
- Peptide Label: isoform 5 preproprotein
RefSeq Acc Id: NP_001369689   ⟸   NM_001382760
- Peptide Label: isoform 4 preproprotein
RefSeq Acc Id: NP_001369694   ⟸   NM_001382765
- Peptide Label: isoform 9 preproprotein
RefSeq Acc Id: NP_001369693   ⟸   NM_001382764
- Peptide Label: isoform 8 preproprotein
RefSeq Acc Id: NP_001369692   ⟸   NM_001382763
- Peptide Label: isoform 7 preproprotein
RefSeq Acc Id: NP_001369691   ⟸   NM_001382762
- Peptide Label: isoform 6 preproprotein
RefSeq Acc Id: NP_001369688   ⟸   NM_001382759
- Peptide Label: isoform 3 preproprotein
RefSeq Acc Id: ENSP00000398719   ⟸   ENST00000425838
RefSeq Acc Id: ENSP00000426757   ⟸   ENST00000509493
RefSeq Acc Id: ENSP00000306099   ⟸   ENST00000302068
Protein Domains
Fibrinogen C-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P02675-F1-model_v2 AlphaFold P02675 1-491 view protein structure

Promoters
RGD ID:6868706
Promoter ID:EPDNEW_H7518
Type:initiation region
Name:FGB_1
Description:fibrinogen beta chain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384154,563,011 - 154,563,071EPDNEW
RGD ID:6849544
Promoter ID:EP15029
Type:single initiation site
Name:HS_FGB
Description:beta-fibrinogen.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Tissues & Cell Lines:liver, bone marrow (megakaryocytes)
Experiment Methods:Nuclease protection
Position:
Human AssemblyChrPosition (strand)Source
Build 364155,703,613 - 155,703,673EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
FIBRINOGEN NEW YORK 1 deletion FIBRINOGEN NEW YORK 1 [RCV000017803] Chr4:4q28 other
NM_005141.4(FGB):c.130C>T (p.Arg44Cys) single nucleotide variant FIBRINOGEN CHRISTCHURCH 2 [RCV000017804]|Hypofibrinogenemia [RCV000852015] Chr4:154565823 [GRCh38]
Chr4:155486975 [GRCh37]
Chr4:4q31.3
likely pathogenic|other
NM_005141.4(FGB):c.1093G>A (p.Ala365Thr) single nucleotide variant FIBRINOGEN PONTOISE 2 [RCV000017807] Chr4:154569648 [GRCh38]
Chr4:155490800 [GRCh37]
Chr4:4q31.3
other
NM_005141.4(FGB):c.1433G>A (p.Arg478Lys) single nucleotide variant Congenital afibrinogenemia [RCV000285950]|FIBRINOGEN BALTIMORE 2 [RCV000017808]|not provided [RCV001723573]|not specified [RCV000244462] Chr4:154570607 [GRCh38]
Chr4:155491759 [GRCh37]
Chr4:4q31.3
benign|likely benign|other
NM_005141.4(FGB):c.133G>T (p.Gly45Cys) single nucleotide variant FIBRINOGEN ISE [RCV000017809] Chr4:154565826 [GRCh38]
Chr4:155486978 [GRCh37]
Chr4:4q31.3
other
NM_005141.4(FGB):c.292G>A (p.Ala98Thr) single nucleotide variant FIBRINOGEN NAPLES [RCV000017811] Chr4:154565985 [GRCh38]
Chr4:155487137 [GRCh37]
Chr4:4q31.3
pathogenic|other
NG_008833.1:g.4577G>A single nucleotide variant FIBRINOGEN-BETA POLYMORPHISM [RCV000017814] Chr4:154562556 [GRCh38]
Chr4:155483708 [GRCh37]
Chr4:4q31.3
benign
NM_005141.5(FGB):c.1148T>G (p.Leu383Arg) single nucleotide variant Congenital afibrinogenemia [RCV000017815] Chr4:154569703 [GRCh38]
Chr4:155490855 [GRCh37]
Chr4:4q31.3
pathogenic
NM_005141.5(FGB):c.1289G>A (p.Gly430Asp) single nucleotide variant Congenital afibrinogenemia [RCV000017816] Chr4:154570463 [GRCh38]
Chr4:155491615 [GRCh37]
Chr4:4q31.3
pathogenic
NM_005141.4(FGB):c.586C>T (p.Arg196Cys) single nucleotide variant FIBRINOGEN LONGMONT [RCV000017817]|Hypofibrinogenemia [RCV000851604] Chr4:154567688 [GRCh38]
Chr4:155488840 [GRCh37]
Chr4:4q31.3
uncertain significance|other
NM_005141.5(FGB):c.958+13C>T single nucleotide variant Congenital afibrinogenemia [RCV000017818] Chr4:154569320 [GRCh38]
Chr4:155490472 [GRCh37]
Chr4:4q31.3
pathogenic
NM_005141.5(FGB):c.1244+1G>T single nucleotide variant Congenital afibrinogenemia [RCV000017819] Chr4:154569800 [GRCh38]
Chr4:155490952 [GRCh37]
Chr4:4q31.3
pathogenic
FGB, -148T-C single nucleotide variant FIBRINOGEN, BETA-148 POLYMORPHISM [RCV000017820] Chr4:4q28 benign
NM_005141.5(FGB):c.605T>A (p.Leu202Gln) single nucleotide variant Congenital afibrinogenemia [RCV000017821] Chr4:154567707 [GRCh38]
Chr4:155488859 [GRCh37]
Chr4:4q31.3
pathogenic
NM_005141.5(FGB):c.139C>T (p.Arg47Ter) single nucleotide variant Afibrinogenemia [RCV002243650]|Congenital afibrinogenemia [RCV000017822]|Hypofibrinogenemia [RCV000851927]|not provided [RCV001723574] Chr4:154565832 [GRCh38]
Chr4:155486984 [GRCh37]
Chr4:4q31.3
pathogenic|likely pathogenic
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2
pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 copy number gain See cases [RCV000051786] Chr4:121518223..190062270 [GRCh38]
Chr4:122439378..190828225 [GRCh37]
Chr4:122658828..191220419 [NCBI36]
Chr4:4q27-35.2
pathogenic
GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3 copy number gain See cases [RCV000051788] Chr4:147317283..173675559 [GRCh38]
Chr4:148238435..174596710 [GRCh37]
Chr4:148457885..174833285 [NCBI36]
Chr4:4q31.22-34.1
pathogenic
GRCh38/hg38 4q31.23-35.2(chr4:148356485-189548183)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|See cases [RCV000051789] Chr4:148356485..189548183 [GRCh38]
Chr4:149277637..190469337 [GRCh37]
Chr4:149497087..190706331 [NCBI36]
Chr4:4q31.23-35.2
pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3
pathogenic
GRCh38/hg38 4q31.3-32.1(chr4:153656785-154928773)x1 copy number loss See cases [RCV000053324] Chr4:153656785..154928773 [GRCh38]
Chr4:154577937..155849925 [GRCh37]
Chr4:154797387..156069375 [NCBI36]
Chr4:4q31.3-32.1
pathogenic
NM_005141.4(FGB):c.220C>T (p.Arg74Cys) single nucleotide variant FIBRINOGEN NIJMEGEN [RCV000119098] Chr4:154565913 [GRCh38]
Chr4:155487065 [GRCh37]
Chr4:4q31.3
other
GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1 copy number loss See cases [RCV000135696] Chr4:151299810..160314050 [GRCh38]
Chr4:152220962..161235202 [GRCh37]
Chr4:152440412..161454652 [NCBI36]
Chr4:4q31.3-32.1
likely pathogenic
GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3 copy number gain See cases [RCV000135845] Chr4:145042668..189975519 [GRCh38]
Chr4:145963820..190828225 [GRCh37]
Chr4:146183270..191133668 [NCBI36]
Chr4:4q31.21-35.2
pathogenic
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 copy number gain See cases [RCV000136810] Chr4:138510532..189963195 [GRCh38]
Chr4:139431686..190828225 [GRCh37]
Chr4:139651136..191121344 [NCBI36]
Chr4:4q31.1-35.2
pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 copy number gain See cases [RCV000137721] Chr4:131985253..190095391 [GRCh38]
Chr4:132906408..190828225 [GRCh37]
Chr4:133125858..191250527 [NCBI36]
Chr4:4q28.3-35.2
pathogenic|likely benign
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 copy number gain See cases [RCV000138578] Chr4:125432943..185761887 [GRCh38]
Chr4:126354098..186683041 [GRCh37]
Chr4:126573548..186920035 [NCBI36]
Chr4:4q28.1-35.1
pathogenic|likely benign
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 copy number gain See cases [RCV000143559] Chr4:134935616..190036318 [GRCh38]
Chr4:135856771..190957473 [GRCh37]
Chr4:136076221..191194467 [NCBI36]
Chr4:4q28.3-35.2
pathogenic
GRCh38/hg38 4q31.3-32.1(chr4:152500649-155788803)x3 copy number gain See cases [RCV000143617] Chr4:152500649..155788803 [GRCh38]
Chr4:153421801..156709955 [GRCh37]
Chr4:153641251..156929405 [NCBI36]
Chr4:4q31.3-32.1
likely pathogenic
GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3 copy number gain See cases [RCV000240245] Chr4:136912336..184253252 [GRCh37]
Chr4:4q28.3-35.1
pathogenic
NM_005141.5(FGB):c.*619T>C single nucleotide variant Congenital afibrinogenemia [RCV000260890] Chr4:154571269 [GRCh38]
Chr4:155492421 [GRCh37]
Chr4:4q31.3
benign
NM_005141.5(FGB):c.307-16T>C single nucleotide variant not specified [RCV000248415] Chr4:154566473 [GRCh38]
Chr4:155487625 [GRCh37]
Chr4:4q31.3
likely benign
NM_005141.5(FGB):c.1113A>G (p.Ser371=) single nucleotide variant Congenital afibrinogenemia [RCV000282378]|not provided [RCV000861405] Chr4:154569668 [GRCh38]
Chr4:155490820 [GRCh37]
Chr4:4q31.3
benign|likely benign
NM_005141.5(FGB):c.*835del deletion Congenital afibrinogenemia [RCV000283234] Chr4:154571485 [GRCh38]
Chr4:155492637 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.4(FGB):c.959-16_959-13delTTTG deletion not specified [RCV000253672] Chr4:154569498..154569501 [GRCh38]
Chr4:155490650..155490653 [GRCh37]
Chr4:4q31.3
benign
NM_005141.5(FGB):c.318T>C (p.Cys106=) single nucleotide variant Congenital afibrinogenemia [RCV000275572]|not provided [RCV000861397] Chr4:154566500 [GRCh38]
Chr4:155487652 [GRCh37]
Chr4:4q31.3
benign|likely benign
NM_005141.5(FGB):c.-6_-5del deletion Congenital afibrinogenemia [RCV000268535] Chr4:154563013..154563014 [GRCh38]
Chr4:155484165..155484166 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.1125C>T (p.Tyr375=) single nucleotide variant Congenital afibrinogenemia [RCV000339658]|not provided [RCV001610657]|not specified [RCV000247915] Chr4:154569680 [GRCh38]
Chr4:155490832 [GRCh37]
Chr4:4q31.3
benign|likely benign
NM_005141.5(FGB):c.1239C>T (p.Asp413=) single nucleotide variant Congenital afibrinogenemia [RCV001145328]|not provided [RCV000860820]|not specified [RCV000252670] Chr4:154569794 [GRCh38]
Chr4:155490946 [GRCh37]
Chr4:4q31.3
benign
NM_005141.5(FGB):c.*447T>C single nucleotide variant Congenital afibrinogenemia [RCV000275761] Chr4:154571097 [GRCh38]
Chr4:155492249 [GRCh37]
Chr4:4q31.3
benign|likely benign
NM_005141.5(FGB):c.200G>C (p.Ser67Thr) single nucleotide variant Congenital afibrinogenemia [RCV000272147] Chr4:154565893 [GRCh38]
Chr4:155487045 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.959-13_959-10del deletion Congenital afibrinogenemia [RCV000374346]|not provided [RCV001618436]|not specified [RCV000248105] Chr4:154569498..154569501 [GRCh38]
Chr4:155490650..155490653 [GRCh37]
Chr4:4q31.3
benign
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 copy number gain See cases [RCV000240392] Chr4:119437495..190904301 [GRCh37]
Chr4:4q26-35.2
pathogenic
NM_005141.5(FGB):c.843G>T (p.Val281=) single nucleotide variant Congenital afibrinogenemia [RCV000317361]|not provided [RCV000860959]|not specified [RCV000243347] Chr4:154569192 [GRCh38]
Chr4:155490344 [GRCh37]
Chr4:4q31.3
benign|likely benign
NM_005141.5(FGB):c.567C>T (p.Ser189=) single nucleotide variant Congenital afibrinogenemia [RCV000278745]|not provided [RCV001651188]|not specified [RCV000253184] Chr4:154567669 [GRCh38]
Chr4:155488821 [GRCh37]
Chr4:4q31.3
benign
NM_005141.5(FGB):c.*1550C>T single nucleotide variant Congenital afibrinogenemia [RCV000314054] Chr4:154572200 [GRCh38]
Chr4:155493352 [GRCh37]
Chr4:4q31.3
benign
NM_005141.5(FGB):c.332A>G (p.Gln111Arg) single nucleotide variant Congenital afibrinogenemia [RCV000332926] Chr4:154566514 [GRCh38]
Chr4:155487666 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.*496G>A single nucleotide variant Congenital afibrinogenemia [RCV000333576] Chr4:154571146 [GRCh38]
Chr4:155492298 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.*592G>A single nucleotide variant Congenital afibrinogenemia [RCV000353330] Chr4:154571242 [GRCh38]
Chr4:155492394 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.*834del deletion Congenital afibrinogenemia [RCV000375178] Chr4:154571469 [GRCh38]
Chr4:155492621 [GRCh37]
Chr4:4q31.3
benign
NM_005141.5(FGB):c.*373G>A single nucleotide variant Congenital afibrinogenemia [RCV000398193] Chr4:154571023 [GRCh38]
Chr4:155492175 [GRCh37]
Chr4:4q31.3
benign|likely benign
NM_005141.5(FGB):c.*1771C>T single nucleotide variant Congenital afibrinogenemia [RCV000355407] Chr4:154572421 [GRCh38]
Chr4:155493573 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.*1369G>A single nucleotide variant Congenital afibrinogenemia [RCV000378793] Chr4:154572019 [GRCh38]
Chr4:155493171 [GRCh37]
Chr4:4q31.3
benign|likely benign
NM_005141.5(FGB):c.*624C>T single nucleotide variant Congenital afibrinogenemia [RCV000318458] Chr4:154571274 [GRCh38]
Chr4:155492426 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.1244+7G>A single nucleotide variant Congenital afibrinogenemia [RCV000402896] Chr4:154569806 [GRCh38]
Chr4:155490958 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.*36A>G single nucleotide variant Congenital afibrinogenemia [RCV000403724] Chr4:154570686 [GRCh38]
Chr4:155491838 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.*1372T>A single nucleotide variant Congenital afibrinogenemia [RCV000288095] Chr4:154572022 [GRCh38]
Chr4:155493174 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.*918C>G single nucleotide variant Congenital afibrinogenemia [RCV000321895] Chr4:154571568 [GRCh38]
Chr4:155492720 [GRCh37]
Chr4:4q31.3
benign|likely benign
NM_005141.5(FGB):c.*1517T>C single nucleotide variant Congenital afibrinogenemia [RCV000291633] Chr4:154572167 [GRCh38]
Chr4:155493319 [GRCh37]
Chr4:4q31.3
benign|likely benign
NM_005141.5(FGB):c.*15A>G single nucleotide variant Congenital afibrinogenemia [RCV000342701] Chr4:154570665 [GRCh38]
Chr4:155491817 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.4A>G (p.Lys2Glu) single nucleotide variant Congenital afibrinogenemia [RCV000307288] Chr4:154563022 [GRCh38]
Chr4:155484174 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.564T>C (p.Asn188=) single nucleotide variant Congenital afibrinogenemia [RCV000389477] Chr4:154567666 [GRCh38]
Chr4:155488818 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.291C>T (p.His97=) single nucleotide variant Congenital afibrinogenemia [RCV000367655]|not provided [RCV000861396] Chr4:154565984 [GRCh38]
Chr4:155487136 [GRCh37]
Chr4:4q31.3
benign|likely benign
NM_005141.5(FGB):c.*443G>A single nucleotide variant Congenital afibrinogenemia [RCV000367938] Chr4:154571093 [GRCh38]
Chr4:155492245 [GRCh37]
Chr4:4q31.3
benign|likely benign
NM_005141.5(FGB):c.*422A>C single nucleotide variant Congenital afibrinogenemia [RCV000311036] Chr4:154571072 [GRCh38]
Chr4:155492224 [GRCh37]
Chr4:4q31.3
benign
NM_005141.5(FGB):c.*1617A>T single nucleotide variant Congenital afibrinogenemia [RCV000371121] Chr4:154572267 [GRCh38]
Chr4:155493419 [GRCh37]
Chr4:4q31.3
benign|likely benign
NM_005141.5(FGB):c.*1738G>A single nucleotide variant Congenital afibrinogenemia [RCV000298238] Chr4:154572388 [GRCh38]
Chr4:155493540 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.*1671C>T single nucleotide variant Congenital afibrinogenemia [RCV000396364] Chr4:154572321 [GRCh38]
Chr4:155493473 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.*1867T>C single nucleotide variant Congenital afibrinogenemia [RCV000262932] Chr4:154572517 [GRCh38]
Chr4:155493669 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.*1409C>A single nucleotide variant Congenital afibrinogenemia [RCV000345442] Chr4:154572059 [GRCh38]
Chr4:155493211 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.114+11del deletion Congenital afibrinogenemia [RCV000364371]|not specified [RCV001844136] Chr4:154563138 [GRCh38]
Chr4:155484290 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.*361A>T single nucleotide variant Congenital afibrinogenemia [RCV000364588] Chr4:154571011 [GRCh38]
Chr4:155492163 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.*1542T>C single nucleotide variant Congenital afibrinogenemia [RCV000349006] Chr4:154572192 [GRCh38]
Chr4:155493344 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.*1444C>A single nucleotide variant Congenital afibrinogenemia [RCV000404965] Chr4:154572094 [GRCh38]
Chr4:155493246 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.*1544T>C single nucleotide variant Congenital afibrinogenemia [RCV000405868] Chr4:154572194 [GRCh38]
Chr4:155493346 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.*303C>T single nucleotide variant Congenital afibrinogenemia [RCV000307630] Chr4:154570953 [GRCh38]
Chr4:155492105 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.*1998A>G single nucleotide variant Congenital afibrinogenemia [RCV000301627] Chr4:154572648 [GRCh38]
Chr4:155493800 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.251A>C (p.Lys84Thr) single nucleotide variant Congenital afibrinogenemia [RCV000329294] Chr4:154565944 [GRCh38]
Chr4:155487096 [GRCh37]
Chr4:4q31.3
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3 copy number gain See cases [RCV000510713] Chr4:153890440..190957473 [GRCh37]
Chr4:4q31.3-35.2
pathogenic
GRCh37/hg19 4q31.3-32.2(chr4:153203431-162912359)x1 copy number loss See cases [RCV000511404] Chr4:153203431..162912359 [GRCh37]
Chr4:4q31.3-32.2
pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2
pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2
pathogenic
NM_005141.5(FGB):c.794C>T (p.Pro265Leu) single nucleotide variant Abnormal bleeding [RCV000851949]|Abnormal bleeding [RCV001270563]|Afibrinogenemia [RCV002245051]|Congenital afibrinogenemia [RCV000660563]|Hypofibrinogenemia [RCV000851887]|not provided [RCV000861598]|not specified [RCV000606613] Chr4:154568456 [GRCh38]
Chr4:155489608 [GRCh37]
Chr4:4q31.3
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q31.3-32.1(chr4:154763131-158404825)x1 copy number loss not provided [RCV000682474] Chr4:154763131..158404825 [GRCh37]
Chr4:4q31.3-32.1
likely pathogenic
NM_005141.5(FGB):c.85A>T (p.Lys29Ter) single nucleotide variant not provided [RCV001781099] Chr4:154563103 [GRCh38]
Chr4:155484255 [GRCh37]
Chr4:4q31.3
likely pathogenic
NM_005141.5(FGB):c.534G>C (p.Lys178Asn) single nucleotide variant Congenital afibrinogenemia [RCV001148167]|Deep venous thrombosis [RCV000852154]|not provided [RCV000998310] Chr4:154567636 [GRCh38]
Chr4:155488788 [GRCh37]
Chr4:4q31.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_005141.5(FGB):c.718+123A>G single nucleotide variant not provided [RCV001667173] Chr4:154567943 [GRCh38]
Chr4:155489095 [GRCh37]
Chr4:4q31.3
benign
NM_005141.5(FGB):c.682A>G (p.Thr228Ala) single nucleotide variant not provided [RCV000861974] Chr4:154567784 [GRCh38]
Chr4:155488936 [GRCh37]
Chr4:4q31.3
benign
NM_005141.5(FGB):c.490+160C>T single nucleotide variant not provided [RCV001692848] Chr4:154566832 [GRCh38]
Chr4:155487984 [GRCh37]
Chr4:4q31.3
benign
NM_005141.5(FGB):c.115-314T>C single nucleotide variant not provided [RCV001645185] Chr4:154565494 [GRCh38]
Chr4:155486646 [GRCh37]
Chr4:4q31.3
benign
NM_005141.5(FGB):c.*1687A>G single nucleotide variant Congenital afibrinogenemia [RCV001147362] Chr4:154572337 [GRCh38]
Chr4:155493489 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.115-490T>A single nucleotide variant not provided [RCV001666113] Chr4:154565318 [GRCh38]
Chr4:155486470 [GRCh37]
Chr4:4q31.3
benign
NM_005141.5(FGB):c.974G>C (p.Gly325Ala) single nucleotide variant Congenital afibrinogenemia [RCV000984797] Chr4:154569529 [GRCh38]
Chr4:155490681 [GRCh37]
Chr4:4q31.3
pathogenic
NM_005141.5(FGB):c.679T>C (p.Cys227Arg) single nucleotide variant Familial dysfibrinogenemia [RCV000984798] Chr4:154567781 [GRCh38]
Chr4:155488933 [GRCh37]
Chr4:4q31.3
pathogenic
NM_005141.5(FGB):c.367A>G (p.Ile123Val) single nucleotide variant not provided [RCV000861929] Chr4:154566549 [GRCh38]
Chr4:155487701 [GRCh37]
Chr4:4q31.3
likely benign
NM_005141.5(FGB):c.216G>A (p.Arg72=) single nucleotide variant not provided [RCV000868308] Chr4:154565909 [GRCh38]
Chr4:155487061 [GRCh37]
Chr4:4q31.3
likely benign
NM_005141.5(FGB):c.1356C>T (p.Tyr452=) single nucleotide variant not provided [RCV000867952] Chr4:154570530 [GRCh38]
Chr4:155491682 [GRCh37]
Chr4:4q31.3
likely benign
GRCh37/hg19 4q31.3-32.1(chr4:154907679-159012980)x1 copy number loss not provided [RCV000848578] Chr4:154907679..159012980 [GRCh37]
Chr4:4q31.3-32.1
uncertain significance
NM_005141.5(FGB):c.80T>C (p.Leu27Pro) single nucleotide variant Congenital afibrinogenemia [RCV001147193] Chr4:154563098 [GRCh38]
Chr4:155484250 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.*801A>G single nucleotide variant Congenital afibrinogenemia [RCV001149838] Chr4:154571451 [GRCh38]
Chr4:155492603 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.959G>A (p.Gly320Asp) single nucleotide variant Hypofibrinogenemia [RCV000851917] Chr4:154569514 [GRCh38]
Chr4:155490666 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.1058A>G (p.Lys353Arg) single nucleotide variant Abnormal bleeding [RCV000851973] Chr4:154569613 [GRCh38]
Chr4:155490765 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.210C>T (p.Gly70=) single nucleotide variant Congenital afibrinogenemia [RCV001147197] Chr4:154565903 [GRCh38]
Chr4:155487055 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.*277A>G single nucleotide variant Congenital afibrinogenemia [RCV001147276] Chr4:154570927 [GRCh38]
Chr4:155492079 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.659T>C (p.Met220Thr) single nucleotide variant Congenital afibrinogenemia [RCV001149726] Chr4:154567761 [GRCh38]
Chr4:155488913 [GRCh37]
Chr4:4q31.3
uncertain significance
GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3 copy number gain not provided [RCV000849686] Chr4:124873497..185278662 [GRCh37]
Chr4:4q28.1-35.1
pathogenic
NM_005141.5(FGB):c.*450T>A single nucleotide variant Congenital afibrinogenemia [RCV001148277] Chr4:154571100 [GRCh38]
Chr4:155492252 [GRCh37]
Chr4:4q31.3
uncertain significance
GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3 copy number gain not provided [RCV000849098] Chr4:151174061..190957473 [GRCh37]
Chr4:4q31.3-35.2
pathogenic
NM_005141.5(FGB):c.478A>C (p.Lys160Gln) single nucleotide variant Abnormal bleeding [RCV000852140] Chr4:154566660 [GRCh38]
Chr4:155487812 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.1292G>T (p.Gly431Val) single nucleotide variant Congenital afibrinogenemia [RCV001145329] Chr4:154570466 [GRCh38]
Chr4:155491618 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.*1252A>C single nucleotide variant Congenital afibrinogenemia [RCV001145423] Chr4:154571902 [GRCh38]
Chr4:155493054 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.853C>T (p.Arg285Cys) single nucleotide variant Deep venous thrombosis [RCV000851902] Chr4:154569202 [GRCh38]
Chr4:155490354 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.103G>A (p.Asp35Asn) single nucleotide variant Congenital afibrinogenemia [RCV001147194] Chr4:154563121 [GRCh38]
Chr4:155484273 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.*233G>T single nucleotide variant Congenital afibrinogenemia [RCV001147275] Chr4:154570883 [GRCh38]
Chr4:155492035 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.*363A>G single nucleotide variant Congenital afibrinogenemia [RCV001147278] Chr4:154571013 [GRCh38]
Chr4:155492165 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.254T>C (p.Val85Ala) single nucleotide variant Congenital afibrinogenemia [RCV001148164] Chr4:154565947 [GRCh38]
Chr4:155487099 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.*427G>A single nucleotide variant Congenital afibrinogenemia [RCV001148276] Chr4:154571077 [GRCh38]
Chr4:155492229 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.*526C>T single nucleotide variant Congenital afibrinogenemia [RCV001148279] Chr4:154571176 [GRCh38]
Chr4:155492328 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.115-579C>T single nucleotide variant not provided [RCV001621398] Chr4:154565229 [GRCh38]
Chr4:155486381 [GRCh37]
Chr4:4q31.3
benign
NM_005141.5(FGB):c.298C>T (p.Pro100Ser) single nucleotide variant Congenital afibrinogenemia [RCV001148165]|not provided [RCV000862329] Chr4:154565991 [GRCh38]
Chr4:155487143 [GRCh37]
Chr4:4q31.3
likely benign|uncertain significance
NM_005141.5(FGB):c.84T>A (p.Val28=) single nucleotide variant not provided [RCV000871875] Chr4:154563102 [GRCh38]
Chr4:155484254 [GRCh37]
Chr4:4q31.3
likely benign
NM_005141.5(FGB):c.*304G>A single nucleotide variant Congenital afibrinogenemia [RCV001147277] Chr4:154570954 [GRCh38]
Chr4:155492106 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.*1752G>T single nucleotide variant Congenital afibrinogenemia [RCV001147363] Chr4:154572402 [GRCh38]
Chr4:155493554 [GRCh37]
Chr4:4q31.3
benign
NM_005141.5(FGB):c.*464C>T single nucleotide variant Congenital afibrinogenemia [RCV001148278] Chr4:154571114 [GRCh38]
Chr4:155492266 [GRCh37]
Chr4:4q31.3
uncertain significance
GRCh37/hg19 4q31.3-32.1(chr4:153061243-157994448)x1 copy number loss not provided [RCV001005606] Chr4:153061243..157994448 [GRCh37]
Chr4:4q31.3-32.1
likely pathogenic
NM_005141.5(FGB):c.832+202dup duplication not provided [RCV001637163] Chr4:154568682..154568683 [GRCh38]
Chr4:155489834..155489835 [GRCh37]
Chr4:4q31.3
benign
Single allele single nucleotide variant not provided [RCV001715022] Chr4:154562762 [GRCh38]
Chr4:155483914 [GRCh37]
Chr4:4q31.3
benign
NM_005141.5(FGB):c.*1070G>C single nucleotide variant Congenital afibrinogenemia [RCV001149841] Chr4:154571720 [GRCh38]
Chr4:155492872 [GRCh37]
Chr4:4q31.3
benign
NM_005141.5(FGB):c.*1204T>C single nucleotide variant Congenital afibrinogenemia [RCV001145422] Chr4:154571854 [GRCh38]
Chr4:155493006 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.718+113A>G single nucleotide variant not provided [RCV001651480] Chr4:154567933 [GRCh38]
Chr4:155489085 [GRCh37]
Chr4:4q31.3
benign
NM_005141.5(FGB):c.306+70G>C single nucleotide variant not provided [RCV001691327] Chr4:154566069 [GRCh38]
Chr4:155487221 [GRCh37]
Chr4:4q31.3
benign
NM_005141.5(FGB):c.832+221del deletion not provided [RCV001680118] Chr4:154568701 [GRCh38]
Chr4:155489853 [GRCh37]
Chr4:4q31.3
benign
NM_005141.5(FGB):c.1244+206G>A single nucleotide variant not provided [RCV001609843] Chr4:154570005 [GRCh38]
Chr4:155491157 [GRCh37]
Chr4:4q31.3
benign
NM_005141.5(FGB):c.490+248A>T single nucleotide variant not provided [RCV001614196] Chr4:154566920 [GRCh38]
Chr4:155488072 [GRCh37]
Chr4:4q31.3
benign
GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3 copy number gain not provided [RCV001537926] Chr4:131303317..168722402 [GRCh37]
Chr4:4q28.3-32.3
pathogenic
NM_005141.5(FGB):c.114+227G>A single nucleotide variant not provided [RCV001708177] Chr4:154563359 [GRCh38]
Chr4:155484511 [GRCh37]
Chr4:4q31.3
benign
NM_005141.5(FGB):c.749A>G (p.Glu250Gly) single nucleotide variant Congenital afibrinogenemia [RCV001149727]|Familial dysfibrinogenemia [RCV002222198]|not provided [RCV002070816] Chr4:154568411 [GRCh38]
Chr4:155489563 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.752C>T (p.Thr251Ile) single nucleotide variant Congenital afibrinogenemia [RCV001149728] Chr4:154568414 [GRCh38]
Chr4:155489566 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.*1019G>T single nucleotide variant Congenital afibrinogenemia [RCV001149840] Chr4:154571669 [GRCh38]
Chr4:155492821 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.169C>T (p.Pro57Ser) single nucleotide variant Congenital afibrinogenemia [RCV001147196] Chr4:154565862 [GRCh38]
Chr4:155487014 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.510T>A (p.Asn170Lys) single nucleotide variant Congenital afibrinogenemia [RCV001148166] Chr4:154567612 [GRCh38]
Chr4:155488764 [GRCh37]
Chr4:4q31.3
likely benign
NM_005141.5(FGB):c.*1105A>G single nucleotide variant Congenital afibrinogenemia [RCV001145421] Chr4:154571755 [GRCh38]
Chr4:155492907 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.762G>A (p.Met254Ile) single nucleotide variant Congenital afibrinogenemia [RCV001149729] Chr4:154568424 [GRCh38]
Chr4:155489576 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.*846T>G single nucleotide variant Congenital afibrinogenemia [RCV001149839] Chr4:154571496 [GRCh38]
Chr4:155492648 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.115-12C>T single nucleotide variant Congenital afibrinogenemia [RCV001147195] Chr4:154565796 [GRCh38]
Chr4:155486948 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.*1639T>C single nucleotide variant Congenital afibrinogenemia [RCV001147361] Chr4:154572289 [GRCh38]
Chr4:155493441 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.*1892G>A single nucleotide variant Congenital afibrinogenemia [RCV001148382] Chr4:154572542 [GRCh38]
Chr4:155493694 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.490+1G>C single nucleotide variant Familial dysfibrinogenemia [RCV001260487] Chr4:154566673 [GRCh38]
Chr4:155487825 [GRCh37]
Chr4:4q31.3
likely pathogenic
NM_005141.5(FGB):c.656A>G (p.Gln219Arg) single nucleotide variant Congenital afibrinogenemia [RCV002222713]|not provided [RCV001508521]|not specified [RCV001824969] Chr4:154567758 [GRCh38]
Chr4:155488910 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.832+218_832+221del deletion not provided [RCV001655553] Chr4:154568701..154568704 [GRCh38]
Chr4:155489853..155489856 [GRCh37]
Chr4:4q31.3
benign
NG_008833.1:g.4884C>T single nucleotide variant FIBRINOGEN, BETA-148 POLYMORPHISM [RCV001843309]|not provided [RCV001619021] Chr4:154562863 [GRCh38]
Chr4:155484015 [GRCh37]
Chr4:4q31.3
benign
NM_005141.5(FGB):c.832+201_832+202dup duplication not provided [RCV001654533] Chr4:154568682..154568683 [GRCh38]
Chr4:155489834..155489835 [GRCh37]
Chr4:4q31.3
benign
NM_005141.5(FGB):c.478A>G (p.Lys160Glu) single nucleotide variant not provided [RCV001773353] Chr4:154566660 [GRCh38]
Chr4:155487812 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.1124A>G (p.Tyr375Cys) single nucleotide variant not provided [RCV001763246] Chr4:154569679 [GRCh38]
Chr4:155490831 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.811G>T (p.Asp271Tyr) single nucleotide variant Familial dysfibrinogenemia [RCV002210933] Chr4:154568473 [GRCh38]
Chr4:155489625 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_005141.5(FGB):c.506T>A (p.Val169Asp) single nucleotide variant Congenital afibrinogenemia [RCV002223109] Chr4:154567608 [GRCh38]
Chr4:155488760 [GRCh37]
Chr4:4q31.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3662 AgrOrtholog
COSMIC FGB COSMIC
Ensembl Genes ENSG00000171564 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000306099 ENTREZGENE
  ENSP00000306099.4 UniProtKB/Swiss-Prot
  ENSP00000398719.1 UniProtKB/TrEMBL
  ENSP00000426757.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000302068 ENTREZGENE
  ENST00000302068.9 UniProtKB/Swiss-Prot
  ENST00000425838.5 UniProtKB/TrEMBL
  ENST00000509493.1 UniProtKB/TrEMBL
Gene3D-CATH 3.90.215.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000171564 GTEx
HGNC ID HGNC:3662 ENTREZGENE
Human Proteome Map FGB Human Proteome Map
InterPro Fibrinogen-like_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fibrinogen_a/b/g_C_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fibrinogen_a/b/g_C_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fibrinogen_a/b/g_coil_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fibrinogen_beta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fibrinogen_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2244 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2244 ENTREZGENE
OMIM 134830 OMIM
  202400 OMIM
  616004 OMIM
PANTHER PTHR19143:SF332 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Fib_alpha UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fibrinogen_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB FGB RGD, PharmGKB
PROSITE FIBRINOGEN_C_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FIBRINOGEN_C_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FBG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fib_alpha UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56496 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D3DP13_HUMAN UniProtKB/TrEMBL
  D6REL8_HUMAN UniProtKB/TrEMBL
  F8W6P4_HUMAN UniProtKB/TrEMBL
  FIBB_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  V9HVY1 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A0JLR9 UniProtKB/Swiss-Prot
  B2R7G3 UniProtKB/Swiss-Prot
  Q32Q65 UniProtKB/Swiss-Prot
  Q3KPF2 UniProtKB/Swiss-Prot