FGA (fibrinogen alpha chain) - Rat Genome Database

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Gene: FGA (fibrinogen alpha chain) Homo sapiens
Analyze
Symbol: FGA
Name: fibrinogen alpha chain
RGD ID: 737209
HGNC Page HGNC
Description: Exhibits 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. Localizes to external side of plasma membrane; fibrinogen complex; and platelet alpha granule. Implicated in congenital afibrinogenemia; familial visceral amyloidosis; and thrombophilia. Biomarker of Crohn's disease; acute lymphoblastic leukemia; keratoconus; and type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: Fib2; fibrinogen, A alpha polypeptide; fibrinogen, alpha polypeptide; MGC119422; MGC119423; MGC119425
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl4154,583,128 - 154,590,745 (-)EnsemblGRCh38hg38GRCh38
GRCh384154,583,126 - 154,590,742 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh374155,504,278 - 155,511,894 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364155,723,730 - 155,731,347 (-)NCBINCBI36hg18NCBI36
Build 344155,864,033 - 155,869,470NCBI
Celera4152,835,246 - 152,842,862 (-)NCBI
Cytogenetic Map4q31.3NCBI
HuRef4151,244,861 - 151,252,473 (-)NCBIHuRef
CHM1_14155,482,199 - 155,489,839 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1-naphthyl isothiocyanate  (EXP,ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acetylsalicylic acid  (EXP)
ADP  (EXP)
aflatoxin B1  (EXP)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
Azaspiracid  (EXP)
azathioprine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (EXP)
bexarotene  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
buspirone  (ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
carbon nanotube  (ISO)
chloroform  (ISO)
chlorpromazine  (EXP)
choline  (ISO)
cisplatin  (EXP)
clofibric acid  (ISO)
cobalt dichloride  (EXP,ISO)
copper(II) sulfate  (EXP)
cycloheximide  (ISO)
cyclosporin A  (EXP,ISO)
cylindrospermopsin  (EXP,ISO)
dabigatran  (ISO)
decabromodiphenyl ether  (ISO)
dibenz[a,h]anthracene  (EXP)
dicrotophos  (EXP)
dienogest  (EXP)
diisopropyl fluorophosphate  (ISO)
doxorubicin  (ISO)
endosulfan  (ISO)
erythromycin estolate  (ISO)
fenofibrate  (ISO)
flutamide  (ISO)
folic acid  (EXP,ISO)
furan  (ISO)
genistein  (ISO)
gestodene  (EXP)
glafenine  (ISO)
GW 4064  (ISO)
heparin  (EXP)
hydrazine  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
levonorgestrel  (EXP)
lipopolysaccharide  (ISO)
methapyrilene  (ISO)
methimazole  (ISO)
methotrexate  (ISO)
methylmercury chloride  (EXP)
morphine  (ISO)
N-nitrosodiethylamine  (ISO)
Natamycin  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nimesulide  (ISO)
norethisterone  (EXP)
norgestimate  (EXP)
nystatin  (ISO)
O-methyleugenol  (EXP)
paracetamol  (EXP,ISO)
pentanal  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
propanal  (EXP)
quercetin  (EXP)
quinidine  (ISO)
rotenone  (ISO)
silicon dioxide  (EXP,ISO)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sulfasalazine  (ISO)
tacrolimus hydrate  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
theophylline  (ISO)
tolcapone  (ISO)
tremolite asbestos  (ISO)
tributylstannane  (ISO)
Triptolide  (ISO)
trovafloxacin  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
acute-phase response  (ISO)
adaptive immune response  (IEA)
amyloid fibril formation  (TAS)
blood coagulation  (ISO,TAS)
blood coagulation, common pathway  (IBA,IMP)
blood coagulation, fibrin clot formation  (IDA)
cell-matrix adhesion  (IDA)
cellular protein metabolic process  (TAS)
cellular protein-containing complex assembly  (IDA)
cellular response to granulocyte colony-stimulating factor  (ISO)
cellular response to interleukin-6  (ISO)
cellular response to organic cyclic compound  (ISO)
envenomation resulting in modulation of blood coagulation in other organism  (ISO)
extracellular matrix organization  (TAS)
fibrinolysis  (IBA,IDA)
induction of bacterial agglutination  (IDA)
innate immune response  (IEA)
liver regeneration  (ISO)
negative regulation of blood coagulation, common pathway  (TAS)
negative regulation of endothelial cell apoptotic process  (IBA,IDA)
negative regulation of extrinsic apoptotic signaling pathway via death domain receptors  (IBA,IDA)
plasminogen activation  (IDA)
platelet activation  (IEA)
platelet aggregation  (HMP,IBA,IDA)
platelet degranulation  (TAS)
positive regulation of ERK1 and ERK2 cascade  (IBA,IDA)
positive regulation of exocytosis  (IDA)
positive regulation of heterotypic cell-cell adhesion  (IBA,IDA)
positive regulation of peptide hormone secretion  (IBA,IDA)
positive regulation of protein secretion  (IDA)
positive regulation of smooth muscle cell migration  (ISO)
positive regulation of substrate adhesion-dependent cell spreading  (NAS)
positive regulation of vasoconstriction  (IDA)
post-translational protein modification  (TAS)
protein polymerization  (IBA,IDA,IEA)
protein-containing complex assembly  (IMP)
response to calcium ion  (IDA)
response to cycloheximide  (ISO)
response to estradiol  (ISO)
response to genistein  (ISO)
response to growth hormone  (ISO)
response to insulin  (ISO)
response to morphine  (ISO)
response to thyroid hormone  (ISO)
response to toxic substance  (ISO)
response to X-ray  (ISO)
toll-like receptor signaling pathway  (TAS)

Molecular Function

References

References - curated
1. Ashour TH Adv Hematol. 2014;2014:705290. doi: 10.1155/2014/705290. Epub 2014 Apr 1.
2. Bai J, etal., Proteome Sci. 2014 Sep 16;12(1):49. doi: 10.1186/s12953-014-0049-y. eCollection 2014.
3. Balasubramanian SA, etal., Mol Vis. 2013 Oct 30;19:2124-34. eCollection 2013.
4. Bekyarova G, etal., Methods Find Exp Clin Pharmacol. 2010 Jun;32(5):299-303.
5. Benson MD, etal., Nat Genet. 1993 Mar;3(3):252-5.
6. Carter AM, etal., Blood. 2000 Aug 1;96(3):1177-9.
7. Chen X, etal., J Proteome Res. 2010 Feb 5;9(2):885-96.
8. Choi SA, etal., Mol Biol Rep. 2013 Feb;40(2):1753-65. doi: 10.1007/s11033-012-2229-0. Epub 2012 Oct 20.
9. Dong F, etal., Evid Based Complement Alternat Med. 2014;2014:726740. doi: 10.1155/2014/726740. Epub 2014 Jan 2.
10. Feng J, etal., PLoS One. 2010 Oct 6;5(10):e13201. doi: 10.1371/journal.pone.0013201.
11. Iba T and Takayama T, Shock. 2009 Nov;32(5):530-4. doi: 10.1097/SHK.0b013e3181a2e279.
12. Jiang X, etal., Zhongguo Ying Yong Sheng Li Xue Za Zhi. 2012 Mar;28(2):170-2.
13. Jiao J, etal., Shock. 2014 Jul;42(1):75-81. doi: 10.1097/SHK.0000000000000173.
14. Jin Y, etal., Pulm Pharmacol Ther. 2013 Dec;26(6):661-5. doi: 10.1016/j.pupt.2013.03.013. Epub 2013 Mar 26.
15. Knobl P, etal., Thromb Haemost. 1994 Jun;71(6):692-7.
16. Krishnamoorthy A, etal., Blood. 2011 Aug 18;118(7):1934-42. Epub 2011 Jun 17.
17. Liu A, etal., Shock. 2013 Apr;39(4):397-403. doi: 10.1097/SHK.0b013e31828c2b75.
18. Liu F, etal., Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi. 2012 Mar;30(3):190-3.
19. Longstaff C and Kolev K, J Thromb Haemost. 2015 Jun;13 Suppl 1:S98-105. doi: 10.1111/jth.12935.
20. Lotta LA, etal., BMC Med Genomics. 2012 Feb 21;5(1):7.
21. Mosesson MW J Thromb Haemost. 2005 Aug;3(8):1894-904.
22. Nanni P, etal., J Chromatogr B Analyt Technol Biomed Life Sci. 2009 Oct 1;877(27):3127-36. Epub 2009 Aug 7.
23. Neerman-Arbez M, etal., Eur J Hum Genet. 1999 Dec;7(8):897-902.
24. Nicholson NS, etal., J Pharmacol Exp Ther. 1991 Mar;256(3):876-82.
25. OMIM Disease Annotation Pipeline
26. Online Mendelian Inheritance in Man, OMIM (TM).
27. Pipeline to import KEGG annotations from KEGG into RGD
28. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
29. Pipeline to import SMPDB annotations from SMPDB into RGD
30. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
31. RGD automated import pipeline for gene-chemical interactions
32. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
33. Thukral SK, etal., Toxicol Pathol. 2005;33(3):343-55.
34. van Oijen M, etal., J Neurol Neurosurg Psychiatry. 2008 Jul;79(7):799-803. Epub 2007 Oct 19.
35. Vlietman JJ, etal., Br J Haematol. 2002 Oct;119(1):282-3.
36. Wang B, etal., Chin Med J (Engl). 2012 May;125(10):1753-9.
37. Wang C, etal., Thromb Res. 2013 Jan;131(1):e31-8. doi: 10.1016/j.thromres.2012.11.002. Epub 2012 Nov 28.
38. Wang H, etal., PLoS One. 2011;6(8):e23563. Epub 2011 Aug 24.
39. Watts JA, etal., Thromb Res. 2011 Oct 17.
40. Wu S, etal., Blood Coagul Fibrinolysis. 2005 Apr;16(3):221-6.
Additional References at PubMed
PMID:518845   PMID:518846   PMID:632262   PMID:936108   PMID:1391954   PMID:1457396   PMID:1560020   PMID:1587268   PMID:1634621   PMID:1675636   PMID:1680863   PMID:1912564  
PMID:2070049   PMID:2102623   PMID:2133223   PMID:2133234   PMID:2367530   PMID:2738154   PMID:2742826   PMID:2877981   PMID:3088041   PMID:3345340   PMID:3590111   PMID:3618591  
PMID:4052020   PMID:4084461   PMID:4250289   PMID:5084810   PMID:5645286   PMID:6165239   PMID:6266066   PMID:6281794   PMID:6318767   PMID:6383194   PMID:6500566   PMID:6575389  
PMID:6575700   PMID:6688355   PMID:6689067   PMID:6719396   PMID:6777381   PMID:7298640   PMID:7356959   PMID:8100742   PMID:8140431   PMID:8384496   PMID:8400261   PMID:8461606  
PMID:8473507   PMID:8589203   PMID:8636415   PMID:8639778   PMID:8675656   PMID:8910396   PMID:8939956   PMID:8944230   PMID:9058485   PMID:9182580   PMID:9276466   PMID:9333233  
PMID:9389696   PMID:9485375   PMID:9628725   PMID:9689040   PMID:9867861   PMID:10074346   PMID:10391209   PMID:10467729   PMID:10605720   PMID:10891444   PMID:10903502   PMID:10913112  
PMID:10954706   PMID:10956659   PMID:10963790   PMID:11054085   PMID:11159525   PMID:11170397   PMID:11435303   PMID:11460491   PMID:11460506   PMID:11529842   PMID:11546832   PMID:11562340  
PMID:11583334   PMID:11739173   PMID:11776317   PMID:11833854   PMID:11858505   PMID:11900554   PMID:11914657   PMID:12009908   PMID:12050338   PMID:12117709   PMID:12119191   PMID:12193970  
PMID:12356313   PMID:12406899   PMID:12430881   PMID:12477932   PMID:12617173   PMID:12665801   PMID:12706644   PMID:12707238   PMID:12729597   PMID:12871600   PMID:12878203   PMID:14615374  
PMID:14667819   PMID:14718574   PMID:14746139   PMID:14751930   PMID:15146197   PMID:15166913   PMID:15174051   PMID:15203218   PMID:15217804   PMID:15311936   PMID:15346842   PMID:15637140  
PMID:15735812   PMID:15739255   PMID:15795540   PMID:15795809   PMID:15831156   PMID:15865460   PMID:15968394   PMID:16005629   PMID:16086292   PMID:16144795   PMID:16210568   PMID:16263253  
PMID:16324093   PMID:16335952   PMID:16362348   PMID:16466010   PMID:16468976   PMID:16525568   PMID:16581250   PMID:16614319   PMID:16698114   PMID:16706972   PMID:16712791   PMID:16807684  
PMID:16846481   PMID:16881935   PMID:16894470   PMID:16928957   PMID:16939214   PMID:16940416   PMID:17241179   PMID:17263791   PMID:17264959   PMID:17275949   PMID:17295221   PMID:17303222  
PMID:17408411   PMID:17408725   PMID:17414213   PMID:17433418   PMID:17565234   PMID:17568659   PMID:17591786   PMID:17596138   PMID:17630702   PMID:17643375   PMID:17650077   PMID:17688324  
PMID:17701467   PMID:17849064   PMID:17849175   PMID:17982313   PMID:17994314   PMID:18057060   PMID:18202324   PMID:18208536   PMID:18227259   PMID:18278190   PMID:18294856   PMID:18331453  
PMID:18500534   PMID:18676163   PMID:18690352   PMID:18772067   PMID:18842294   PMID:18848323   PMID:18974842   PMID:19056867   PMID:19136375   PMID:19143925   PMID:19190816   PMID:19193866  
PMID:19350124   PMID:19412134   PMID:19420105   PMID:19429776   PMID:19468208   PMID:19507189   PMID:19515723   PMID:19572064   PMID:19631771   PMID:19696023   PMID:19698251   PMID:19718467  
PMID:19729601   PMID:19750100   PMID:19899640   PMID:19913121   PMID:19923982   PMID:19928926   PMID:19948975   PMID:19967163   PMID:20019599   PMID:20031577   PMID:20051841   PMID:20059469  
PMID:20128871   PMID:20167083   PMID:20217997   PMID:20218626   PMID:20237496   PMID:20360068   PMID:20416077   PMID:20533267   PMID:20628086   PMID:20677013   PMID:20709368   PMID:20806111  
PMID:20829681   PMID:21063468   PMID:21190511   PMID:21190668   PMID:21192254   PMID:21224475   PMID:21245743   PMID:21248064   PMID:21258858   PMID:21420681   PMID:21459789   PMID:21464904  
PMID:21502573   PMID:21694469   PMID:21757653   PMID:21800001   PMID:21806028   PMID:21873635   PMID:21891970   PMID:21932842   PMID:21980494   PMID:22342352   PMID:22397628   PMID:22407772  
PMID:22489912   PMID:22516433   PMID:22552295   PMID:22582013   PMID:22639050   PMID:22642105   PMID:22705885   PMID:22713578   PMID:22795623   PMID:22819533   PMID:22836683   PMID:23020230  
PMID:23056168   PMID:23061815   PMID:23224113   PMID:23238100   PMID:23303819   PMID:23314748   PMID:23376485   PMID:23382103   PMID:23533145   PMID:23551149   PMID:23612884   PMID:23639427  
PMID:23725126   PMID:23750785   PMID:23852822   PMID:23877568   PMID:23894515   PMID:23958299   PMID:23969696   PMID:24040290   PMID:24041635   PMID:24048413   PMID:24122271   PMID:24192574  
PMID:24337577   PMID:24367264   PMID:24627488   PMID:24769233   PMID:24803720   PMID:24821635   PMID:25037231   PMID:25163824   PMID:25182841   PMID:25241761   PMID:25275549   PMID:25280629  
PMID:25347092   PMID:25393591   PMID:25555432   PMID:25569856   PMID:25896761   PMID:25914268   PMID:25923092   PMID:25981141   PMID:26083984   PMID:26091039   PMID:26139837   PMID:26186194  
PMID:26228839   PMID:26256740   PMID:26354767   PMID:26496610   PMID:26540126   PMID:26581183   PMID:26871637   PMID:26951791   PMID:27044366   PMID:27099386   PMID:27105953   PMID:27164460  
PMID:27221710   PMID:27231021   PMID:27266621   PMID:27519977   PMID:27555433   PMID:27738342   PMID:27760719   PMID:28119309   PMID:28192448   PMID:28203040   PMID:28219450   PMID:28269756  
PMID:28344315   PMID:28350862   PMID:28359658   PMID:28425010   PMID:28514442   PMID:28675934   PMID:28750085   PMID:28816342   PMID:28851981   PMID:29016666   PMID:29021578   PMID:29089309  
PMID:29240685   PMID:29509190   PMID:29540212   PMID:29662311   PMID:29748775   PMID:29791485   PMID:29874984   PMID:29932420   PMID:30039577   PMID:30106150   PMID:30838756   PMID:31041195  
PMID:31180492   PMID:31253657   PMID:31260799   PMID:31295712   PMID:31343282   PMID:31443619   PMID:31511434   PMID:31515786   PMID:31625351   PMID:31713292   PMID:31725541   PMID:31740226  
PMID:31992359   PMID:32126779   PMID:32286477   PMID:32296183   PMID:32638959   PMID:32877691   PMID:33317138   PMID:33472402  


Genomics

Comparative Map Data
FGA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl4154,583,128 - 154,590,745 (-)EnsemblGRCh38hg38GRCh38
GRCh384154,583,126 - 154,590,742 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh374155,504,278 - 155,511,894 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364155,723,730 - 155,731,347 (-)NCBINCBI36hg18NCBI36
Build 344155,864,033 - 155,869,470NCBI
Celera4152,835,246 - 152,842,862 (-)NCBI
Cytogenetic Map4q31.3NCBI
HuRef4151,244,861 - 151,252,473 (-)NCBIHuRef
CHM1_14155,482,199 - 155,489,839 (-)NCBICHM1_1
Fga
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39382,933,460 - 82,940,934 (+)NCBIGRCm39mm39
GRCm39 Ensembl382,933,383 - 82,940,934 (+)Ensembl
GRCm38383,026,153 - 83,033,627 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl383,026,076 - 83,033,627 (+)EnsemblGRCm38mm10GRCm38
MGSCv37382,830,075 - 82,837,549 (+)NCBIGRCm37mm9NCBIm37
MGSCv36383,112,081 - 83,118,197 (+)NCBImm8
Celera383,030,275 - 83,037,743 (+)NCBICelera
Cytogenetic Map3E3NCBI
cM Map336.96NCBI
Fga
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22168,365,364 - 168,381,533 (+)NCBI
Rnor_6.0 Ensembl2182,006,242 - 182,013,763 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.02181,997,562 - 182,013,726 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02201,412,182 - 201,428,346 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42174,737,640 - 174,753,598 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12174,694,725 - 174,703,904 (+)NCBI
Celera2162,392,064 - 162,408,023 (+)NCBICelera
Cytogenetic Map2q34NCBI
Fga
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554718,806,650 - 8,816,791 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554718,806,964 - 8,814,671 (+)NCBIChiLan1.0ChiLan1.0
FGA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.14158,767,782 - 158,775,414 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v04146,949,680 - 146,957,291 (-)NCBIMhudiblu_PPA_v0panPan3
FGA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11552,238,305 - 52,247,017 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1552,236,198 - 52,246,975 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1552,584,628 - 52,591,483 (-)NCBI
ROS_Cfam_1.01552,924,743 - 52,933,990 (-)NCBI
UMICH_Zoey_3.11552,179,682 - 52,188,900 (-)NCBI
UNSW_CanFamBas_1.01552,283,995 - 52,293,478 (-)NCBI
UU_Cfam_GSD_1.01552,601,176 - 52,608,068 (-)NCBI
Fga
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530138,217,093 - 38,224,715 (+)NCBI
SpeTri2.0NW_0049365761,322,406 - 1,329,743 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FGA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl874,574,882 - 74,584,202 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1874,574,870 - 74,584,202 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2878,935,842 - 78,938,718 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FGA
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.17101,127,554 - 101,134,881 (-)NCBI
ChlSab1.1 Ensembl7101,125,791 - 101,134,405 (-)Ensembl
Fga
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248585,848,817 - 5,856,448 (+)NCBI

Position Markers
D4S3286  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,504,351 - 155,504,480UniSTSGRCh37
Build 364155,723,801 - 155,723,930RGDNCBI36
Celera4152,835,317 - 152,835,446RGD
Cytogenetic Map4q28UniSTS
HuRef4151,244,932 - 151,245,061UniSTS
TNG Radiation Hybrid Map493091.0UniSTS
GeneMap99-G3 RH Map48495.0UniSTS
STS-H58121  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,507,092 - 155,507,239UniSTSGRCh37
Build 364155,726,542 - 155,726,689RGDNCBI36
Celera4152,838,058 - 152,838,205RGD
Cytogenetic Map4q28UniSTS
HuRef4151,247,673 - 151,247,820UniSTS
TNG Radiation Hybrid Map493091.0UniSTS
GeneMap99-GB4 RH Map4636.0UniSTS
NCBI RH Map41584.6UniSTS
SHGC-59324  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,507,212 - 155,507,339UniSTSGRCh37
Build 364155,726,662 - 155,726,789RGDNCBI36
Celera4152,838,178 - 152,838,305RGD
Cytogenetic Map4q28UniSTS
HuRef4151,247,793 - 151,247,920UniSTS
GeneMap99-GB4 RH Map4635.41UniSTS
Whitehead-RH Map4685.9UniSTS
NCBI RH Map41584.6UniSTS
SHGC-34795  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,507,150 - 155,507,276UniSTSGRCh37
Build 364155,726,600 - 155,726,726RGDNCBI36
Celera4152,838,116 - 152,838,242RGD
Cytogenetic Map4q28UniSTS
HuRef4151,247,731 - 151,247,857UniSTS
Stanford-G3 RH Map48523.0UniSTS
GeneMap99-GB4 RH Map4632.82UniSTS
Whitehead-RH Map4689.7UniSTS
NCBI RH Map41584.4UniSTS
GeneMap99-G3 RH Map48448.0UniSTS
GDB:187393  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,507,786 - 155,507,984UniSTSGRCh37
Build 364155,727,236 - 155,727,434RGDNCBI36
Celera4152,838,752 - 152,838,950RGD
Cytogenetic Map4q28UniSTS
HuRef4151,248,367 - 151,248,565UniSTS
GDB:215015  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,508,767 - 155,509,040UniSTSGRCh37
Build 364155,728,217 - 155,728,490RGDNCBI36
Celera4152,839,733 - 152,840,005RGD
Cytogenetic Map4q28UniSTS
HuRef4151,249,348 - 151,249,617UniSTS
GDB:374018  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,505,122 - 155,506,052UniSTSGRCh37
Build 364155,724,572 - 155,725,502RGDNCBI36
Celera4152,836,088 - 152,837,018RGD
Cytogenetic Map4q28UniSTS
HuRef4151,245,703 - 151,246,633UniSTS
D4S2882  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,504,531 - 155,504,690UniSTSGRCh37
Build 364155,723,981 - 155,724,140RGDNCBI36
Celera4152,835,497 - 152,835,656RGD
Cytogenetic Map4q28UniSTS
HuRef4151,245,112 - 151,245,271UniSTS
Whitehead-YAC Contig Map4 UniSTS
SHGC-59770  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,506,493 - 155,506,676UniSTSGRCh37
Build 364155,725,943 - 155,726,126RGDNCBI36
Celera4152,837,459 - 152,837,642RGD
Cytogenetic Map4q28UniSTS
HuRef4151,247,074 - 151,247,257UniSTS
GeneMap99-GB4 RH Map4634.17UniSTS
NCBI RH Map41613.3UniSTS
RH18276  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,507,258 - 155,507,454UniSTSGRCh37
Build 364155,726,708 - 155,726,904RGDNCBI36
Celera4152,838,224 - 152,838,420RGD
Cytogenetic Map4q28UniSTS
HuRef4151,247,839 - 151,248,035UniSTS
GeneMap99-GB4 RH Map4635.9UniSTS
NCBI RH Map41584.6UniSTS
STS-H72060  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,505,242 - 155,505,383UniSTSGRCh37
Build 364155,724,692 - 155,724,833RGDNCBI36
Celera4152,836,208 - 152,836,349RGD
Cytogenetic Map4q28UniSTS
HuRef4151,245,823 - 151,245,964UniSTS
TNG Radiation Hybrid Map493091.0UniSTS
GeneMap99-GB4 RH Map4636.0UniSTS
NCBI RH Map41584.6UniSTS
SHGC-32984  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,507,815 - 155,507,940UniSTSGRCh37
Build 364155,727,265 - 155,727,390RGDNCBI36
Celera4152,838,781 - 152,838,906RGD
Cytogenetic Map4q28UniSTS
HuRef4151,248,396 - 151,248,521UniSTS
TNG Radiation Hybrid Map493091.0UniSTS
GeneMap99-GB4 RH Map4636.0UniSTS
Whitehead-RH Map4685.9UniSTS
NCBI RH Map41584.6UniSTS
GeneMap99-G3 RH Map48482.0UniSTS
D4S3155  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,506,414 - 155,506,638UniSTSGRCh37
Build 364155,725,864 - 155,726,088RGDNCBI36
Celera4152,837,380 - 152,837,604RGD
Cytogenetic Map4q28UniSTS
HuRef4151,246,995 - 151,247,219UniSTS
TNG Radiation Hybrid Map493091.0UniSTS
Whitehead-YAC Contig Map4 UniSTS
GeneMap99-G3 RH Map48495.0UniSTS
SHGC-50337  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,506,465 - 155,506,745UniSTSGRCh37
Build 364155,725,915 - 155,726,195RGDNCBI36
Celera4152,837,431 - 152,837,711RGD
Cytogenetic Map4q28UniSTS
HuRef4151,247,046 - 151,247,326UniSTS
TNG Radiation Hybrid Map493131.0UniSTS
FGA  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,508,848 - 155,509,043UniSTSGRCh37
Build 364155,728,298 - 155,728,493RGDNCBI36
Celera4152,839,814 - 152,840,008RGD
Cytogenetic Map4q28UniSTS
HuRef4151,249,429 - 151,249,620UniSTS
FGA_3978  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,504,251 - 155,505,172UniSTSGRCh37
Build 364155,723,701 - 155,724,622RGDNCBI36
Celera4152,835,217 - 152,836,138RGD
GDB:633003  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,507,255 - 155,507,838UniSTSGRCh37
Celera4152,838,221 - 152,838,804UniSTS
Cytogenetic Map4q28UniSTS
HuRef4151,247,836 - 151,248,419UniSTS
G33492  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q28UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR409hsa-miR-409-3pMirtarbaseexternal_infoELISA//Flow//Luciferase reporter assayNon-Functional MTI20570858
MIR29B1hsa-miR-29b-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI20570858
MIR29Ahsa-miR-29a-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI20570858
MIR144hsa-miR-144-3pMirtarbaseexternal_infoLuciferase reporter assayNon-Functional MTI20570858
MIR29B2hsa-miR-29b-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI20570858

Predicted Target Of
Summary Value
Count of predictions:558
Count of miRNA genes:407
Interacting mature miRNAs:434
Transcripts:ENST00000302053, ENST00000403106
Prediction methods:Microtar, Miranda, Rnahybrid
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 407 407 1 407 1 1 6
Medium 214 28 48 38 24 38 19 4 3 52 17 131 11 8
Low 572 671 388 49 428 10 710 372 455 127 665 593 40 230 451 1
Below cutoff 973 1281 546 80 529 2 1610 935 1605 110 375 447 80 530 1043

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB087996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC107385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF090936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF229198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF361104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL531808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL579998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC098280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC099706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC099720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG565064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ064506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX494953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB122305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD608675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN393696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J00127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J00128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB978078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  K02272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M26878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M58569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M64982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S82092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000403106   ⟹   ENSP00000385981
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4154,585,275 - 154,590,742 (-)Ensembl
RefSeq Acc Id: ENST00000622532   ⟹   ENSP00000478487
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4154,585,281 - 154,590,744 (-)Ensembl
RefSeq Acc Id: ENST00000651975   ⟹   ENSP00000498441
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4154,583,128 - 154,590,745 (-)Ensembl
RefSeq Acc Id: NM_000508   ⟹   NP_000499
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384154,583,126 - 154,590,742 (-)NCBI
GRCh374155,504,280 - 155,511,897 (-)ENTREZGENE
Build 364155,723,730 - 155,731,347 (-)NCBI Archive
HuRef4151,244,861 - 151,252,473 (-)ENTREZGENE
CHM1_14155,482,199 - 155,489,839 (-)NCBI
Sequence:
RefSeq Acc Id: NM_021871   ⟹   NP_068657
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384154,585,275 - 154,590,742 (-)NCBI
GRCh374155,504,280 - 155,511,897 (-)ENTREZGENE
Build 364155,725,879 - 155,731,347 (-)NCBI Archive
HuRef4151,244,861 - 151,252,473 (-)ENTREZGENE
CHM1_14155,484,333 - 155,489,839 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000499 (Get FASTA)   NCBI Sequence Viewer  
  NP_068657 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA17055 (Get FASTA)   NCBI Sequence Viewer  
  AAA17056 (Get FASTA)   NCBI Sequence Viewer  
  AAA52426 (Get FASTA)   NCBI Sequence Viewer  
  AAA52427 (Get FASTA)   NCBI Sequence Viewer  
  AAA52428 (Get FASTA)   NCBI Sequence Viewer  
  AAA52444 (Get FASTA)   NCBI Sequence Viewer  
  AAB47117 (Get FASTA)   NCBI Sequence Viewer  
  AAC97142 (Get FASTA)   NCBI Sequence Viewer  
  AAC97143 (Get FASTA)   NCBI Sequence Viewer  
  AAH20764 (Get FASTA)   NCBI Sequence Viewer  
  AAH70246 (Get FASTA)   NCBI Sequence Viewer  
  AAH98280 (Get FASTA)   NCBI Sequence Viewer  
  AAH99706 (Get FASTA)   NCBI Sequence Viewer  
  AAH99720 (Get FASTA)   NCBI Sequence Viewer  
  AAI01936 (Get FASTA)   NCBI Sequence Viewer  
  AAI05804 (Get FASTA)   NCBI Sequence Viewer  
  AAK31372 (Get FASTA)   NCBI Sequence Viewer  
  AAK31373 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33520 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33521 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33522 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33523 (Get FASTA)   NCBI Sequence Viewer  
  BAC55116 (Get FASTA)   NCBI Sequence Viewer  
  BAF83248 (Get FASTA)   NCBI Sequence Viewer  
  CDL78900 (Get FASTA)   NCBI Sequence Viewer  
  EAX04924 (Get FASTA)   NCBI Sequence Viewer  
  EAX04925 (Get FASTA)   NCBI Sequence Viewer  
  EAX04926 (Get FASTA)   NCBI Sequence Viewer  
  EAX04927 (Get FASTA)   NCBI Sequence Viewer  
  EAX04928 (Get FASTA)   NCBI Sequence Viewer  
  P02671 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000499   ⟸   NM_000508
- Peptide Label: isoform alpha-E preproprotein
- UniProtKB: P02671 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_068657   ⟸   NM_021871
- Peptide Label: isoform alpha precursor
- UniProtKB: P02671 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000478487   ⟸   ENST00000622532
RefSeq Acc Id: ENSP00000498441   ⟸   ENST00000651975
RefSeq Acc Id: ENSP00000385981   ⟸   ENST00000403106
Protein Domains
Fib_alpha   Fibrinogen C-terminal

Promoters
RGD ID:6868708
Promoter ID:EPDNEW_H7519
Type:initiation region
Name:FGA_1
Description:fibrinogen alpha 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
GRCh384154,590,742 - 154,590,802EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_021871.4(FGA):c.104G>A (p.Arg35His) single nucleotide variant Abnormal bleeding [RCV000851971]|Dysfibrinogenemia [RCV000030941]|Hypofibrinogenemia [RCV000851581] Chr4:154589513 [GRCh38]
Chr4:155510665 [GRCh37]
Chr4:4q31.3
pathogenic|other
NM_000508.3(FGA):c.76G>A (p.Asp26Asn) single nucleotide variant FIBRINOGEN LILLE 1 [RCV000017823] Chr4:154589541 [GRCh38]
Chr4:155510693 [GRCh37]
Chr4:4q31.3
other
NM_000508.3(FGA):c.92G>T (p.Gly31Val) single nucleotide variant FIBRINOGEN ROUEN 1 [RCV000017824] Chr4:154589525 [GRCh38]
Chr4:155510677 [GRCh37]
Chr4:4q31.3
other
NM_000508.3(FGA):c.103C>T (p.Arg35Cys) single nucleotide variant Dysfibrinogenemia [RCV000017825] Chr4:154589514 [GRCh38]
Chr4:155510666 [GRCh37]
Chr4:4q31.3
pathogenic|other
FIBRINOGEN MUNICH 1 variation FIBRINOGEN MUNICH 1 [RCV000017841] Chr4:4q28 other
FIBRINOGEN DETROIT 1 variation FIBRINOGEN DETROIT 1 [RCV000017842] Chr4:4q28 other
NM_000508.3(FGA):c.112A>G (p.Arg38Gly) single nucleotide variant FIBRINOGEN AARHUS 1 [RCV000017843]|Hypofibrinogenemia [RCV000851993] Chr4:154589505 [GRCh38]
Chr4:155510657 [GRCh37]
Chr4:4q31.3
likely pathogenic|other
NM_000508.3(FGA):c.110C>T (p.Pro37Leu) single nucleotide variant FIBRINOGEN KYOTO 2 [RCV000017844] Chr4:154589507 [GRCh38]
Chr4:155510659 [GRCh37]
Chr4:4q31.3
other
NM_000508.3(FGA):c.1358G>A (p.Ser453Asn) single nucleotide variant FIBRINOGEN CARACAS 2 [RCV000017865] Chr4:154586071 [GRCh38]
Chr4:155507223 [GRCh37]
Chr4:4q31.3
other
FIBRINOGEN LIMA variation FIBRINOGEN LIMA [RCV000017866] Chr4:4q28 other
NM_000508.3(FGA):c.1438A>T (p.Lys480Ter) single nucleotide variant FIBRINOGEN MARBURG [RCV000017867] Chr4:154585991 [GRCh38]
Chr4:155507143 [GRCh37]
Chr4:4q31.3
pathogenic|other
NM_021871.4(FGA):c.1718G>T (p.Arg573Leu) single nucleotide variant Familial visceral amyloidosis, Ostertag type [RCV000017869] Chr4:154585711 [GRCh38]
Chr4:155506863 [GRCh37]
Chr4:4q31.3
pathogenic
NM_021871.4(FGA):c.1622del (p.Val541fs) deletion Familial visceral amyloidosis, Ostertag type [RCV000017870] Chr4:154585807 [GRCh38]
Chr4:155506959 [GRCh37]
Chr4:4q31.3
pathogenic
NM_021871.4(FGA):c.1634A>T (p.Glu545Val) single nucleotide variant Familial visceral amyloidosis, Ostertag type [RCV000017871] Chr4:154585795 [GRCh38]
Chr4:155506947 [GRCh37]
Chr4:4q31.3
pathogenic
NM_000508.3(FGA):c.1717C>T (p.Arg573Cys) single nucleotide variant FIBRINOGEN DUSART [RCV000017872] Chr4:154585712 [GRCh38]
Chr4:155506864 [GRCh37]
Chr4:4q31.3
other
NM_000508.3(FGA):c.116T>A (p.Val39Asp) single nucleotide variant FIBRINOGEN CANTERBURY [RCV000017874] Chr4:154589501 [GRCh38]
Chr4:155510653 [GRCh37]
Chr4:4q31.3
other
NM_021871.4(FGA):c.1629del (p.Thr544fs) deletion Familial visceral amyloidosis, Ostertag type [RCV000017875] Chr4:154585800 [GRCh38]
Chr4:155506952 [GRCh37]
Chr4:4q31.3
pathogenic
NC_000004.12:g.(154580323_154580329)_(154590210_154590216)del deletion Afibrinogenemia, congenital [RCV000017876] Chr4:154580329..154590210 [GRCh38]
Chr4:4q28
pathogenic
NM_021871.4(FGA):c.510+1G>T single nucleotide variant Afibrinogenemia, congenital [RCV000017877]|Hypodysfibrinogenemia, congenital [RCV000030942]|Hypofibrinogenemia [RCV000851811] Chr4:154587511 [GRCh38]
Chr4:155508663 [GRCh37]
Chr4:4q31.3
pathogenic
FIBRINOGEN NIEUWEGEIN insertion FIBRINOGEN NIEUWEGEIN [RCV000017878] Chr4:4q28 other
NM_021871.4(FGA):c.711dup (p.Lys238Ter) duplication Afibrinogenemia, congenital [RCV000017879] Chr4:154586717..154586718 [GRCh38]
Chr4:155507869..155507870 [GRCh37]
Chr4:4q31.3
pathogenic
NM_000508.3(FGA):c.1039C>T (p.Gln347Ter) single nucleotide variant FIBRINOGEN KEOKUK [RCV000017880] Chr4:154586390 [GRCh38]
Chr4:155507542 [GRCh37]
Chr4:4q31.3
other
NM_021871.4(FGA):c.991A>G (p.Thr331Ala) single nucleotide variant Afibrinogenemia, congenital [RCV000338448]|Familial visceral amyloidosis, Ostertag type [RCV000405212]|Venous thromboembolism, susceptibility to [RCV000017882]|not specified [RCV000246757] Chr4:154586438 [GRCh38]
Chr4:155507590 [GRCh37]
Chr4:4q31.3
risk factor|benign
NM_000508.5(FGA):c.2153C>A (p.Thr718Asn) single nucleotide variant not provided [RCV000722728] Chr4:154584572 [GRCh38]
Chr4:155505724 [GRCh37]
Chr4:4q31.3
uncertain significance
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
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_021871.4(FGA):c.923G>A (p.Arg308Gln) single nucleotide variant Afibrinogenemia, congenital [RCV001148495]|Familial visceral amyloidosis, Ostertag type [RCV001148496]|not provided [RCV000224629] Chr4:154586506 [GRCh38]
Chr4:155507658 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_021871.4(FGA):c.616C>G (p.Gln206Glu) single nucleotide variant Afibrinogenemia, congenital [RCV000279650]|Familial visceral amyloidosis, Ostertag type [RCV000371491] Chr4:154586813 [GRCh38]
Chr4:155507965 [GRCh37]
Chr4:4q31.3
likely benign|uncertain significance
NM_021871.4(FGA):c.450G>A (p.Gln150=) single nucleotide variant Afibrinogenemia, congenital [RCV000340627]|Familial visceral amyloidosis, Ostertag type [RCV000283016] Chr4:154587572 [GRCh38]
Chr4:155508724 [GRCh37]
Chr4:4q31.3
benign|uncertain significance
NM_021871.4(FGA):c.904C>G (p.Pro302Ala) single nucleotide variant Afibrinogenemia, congenital [RCV000307705]|Familial visceral amyloidosis, Ostertag type [RCV000268329]|not provided [RCV000973688] Chr4:154586525 [GRCh38]
Chr4:155507677 [GRCh37]
Chr4:4q31.3
benign|likely benign
NM_000508.5(FGA):c.2586C>T (p.Pro862=) single nucleotide variant not provided [RCV000961585]|not specified [RCV000241967] Chr4:154584139 [GRCh38]
Chr4:155505291 [GRCh37]
Chr4:4q31.3
benign
NM_021871.4(FGA):c.1823G>C (p.Gly608Ala) single nucleotide variant Afibrinogenemia, congenital [RCV000328375]|Familial visceral amyloidosis, Ostertag type [RCV000270905] Chr4:154585606 [GRCh38]
Chr4:155506758 [GRCh37]
Chr4:4q31.3
likely benign|uncertain significance
NM_000508.5(FGA):c.*7_*34dup duplication not specified [RCV000247066] Chr4:154584089..154584090 [GRCh38]
Chr4:155505241..155505242 [GRCh37]
Chr4:4q31.3
benign
NM_021871.4(FGA):c.-14C>T single nucleotide variant not specified [RCV000250194] Chr4:154590701 [GRCh38]
Chr4:155511853 [GRCh37]
Chr4:4q31.3
likely benign
NM_021871.4(FGA):c.*50T>G single nucleotide variant Afibrinogenemia, congenital [RCV000266418]|Familial visceral amyloidosis, Ostertag type [RCV000358780] Chr4:154585444 [GRCh38]
Chr4:155506596 [GRCh37]
Chr4:4q31.3
benign|uncertain significance
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_021871.4(FGA):c.1199C>T (p.Ser400Phe) single nucleotide variant Afibrinogenemia, congenital [RCV000299895]|Familial visceral amyloidosis, Ostertag type [RCV000404272] Chr4:154586230 [GRCh38]
Chr4:155507382 [GRCh37]
Chr4:4q31.3
benign|likely benign
NM_021871.4(FGA):c.919A>G (p.Asn307Asp) single nucleotide variant Afibrinogenemia, congenital [RCV000360629]|Familial visceral amyloidosis, Ostertag type [RCV000303506] Chr4:154586510 [GRCh38]
Chr4:155507662 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_021871.4(FGA):c.1542T>C (p.Pro514=) single nucleotide variant Afibrinogenemia, congenital [RCV000385254]|Familial visceral amyloidosis, Ostertag type [RCV000293267]|not provided [RCV000946817] Chr4:154585887 [GRCh38]
Chr4:155507039 [GRCh37]
Chr4:4q31.3
benign|likely benign
NM_021871.4(FGA):c.1838A>G (p.His613Arg) single nucleotide variant Afibrinogenemia, congenital [RCV000381748]|Familial visceral amyloidosis, Ostertag type [RCV000323812] Chr4:154585591 [GRCh38]
Chr4:155506743 [GRCh37]
Chr4:4q31.3
benign|likely benign|uncertain significance
NM_021871.4(FGA):c.244A>C (p.Thr82Pro) single nucleotide variant Afibrinogenemia, congenital [RCV000344051]|Familial visceral amyloidosis, Ostertag type [RCV000404726] Chr4:154588913 [GRCh38]
Chr4:155510065 [GRCh37]
Chr4:4q31.3
benign|uncertain significance
NM_021871.4(FGA):c.16A>G (p.Ile6Val) single nucleotide variant Afibrinogenemia, congenital [RCV000366318]|Familial visceral amyloidosis, Ostertag type [RCV000309151]|not provided [RCV000953503] Chr4:154590672 [GRCh38]
Chr4:155511824 [GRCh37]
Chr4:4q31.3
benign
NM_021871.4(FGA):c.1417G>A (p.Asp473Asn) single nucleotide variant Afibrinogenemia, congenital [RCV000296696]|Familial visceral amyloidosis, Ostertag type [RCV000334967] Chr4:154586012 [GRCh38]
Chr4:155507164 [GRCh37]
Chr4:4q31.3
benign|uncertain significance
NM_021871.4(FGA):c.765G>A (p.Pro255=) single nucleotide variant Afibrinogenemia, congenital [RCV000386537]|Familial visceral amyloidosis, Ostertag type [RCV000329775] Chr4:154586664 [GRCh38]
Chr4:155507816 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_021871.3(FGA):c.-58A>G single nucleotide variant Afibrinogenemia, congenital [RCV000396755]|Familial visceral amyloidosis, Ostertag type [RCV000312840] Chr4:154590745 [GRCh38]
Chr4:155511897 [GRCh37]
Chr4:4q31.3
benign
NM_021871.4(FGA):c.1444G>A (p.Val482Met) single nucleotide variant Afibrinogenemia, congenital [RCV000388685]|Familial visceral amyloidosis, Ostertag type [RCV000350523] Chr4:154585985 [GRCh38]
Chr4:155507137 [GRCh37]
Chr4:4q31.3
likely benign
NM_021871.4(FGA):c.822C>T (p.Ser274=) single nucleotide variant Afibrinogenemia, congenital [RCV000364658]|Familial visceral amyloidosis, Ostertag type [RCV000272340] Chr4:154586607 [GRCh38]
Chr4:155507759 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_021871.4(FGA):c.666A>T (p.Pro222=) single nucleotide variant Afibrinogenemia, congenital [RCV000275684]|Familial visceral amyloidosis, Ostertag type [RCV000333223] Chr4:154586763 [GRCh38]
Chr4:155507915 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_021871.4(FGA):c.346G>A (p.Asp116Asn) single nucleotide variant Afibrinogenemia, congenital [RCV000402806]|Familial visceral amyloidosis, Ostertag type [RCV000305519] Chr4:154588811 [GRCh38]
Chr4:155509963 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_021871.4(FGA):c.614A>G (p.Glu205Gly) single nucleotide variant Afibrinogenemia, congenital [RCV000337081]|Familial visceral amyloidosis, Ostertag type [RCV000375396] Chr4:154586815 [GRCh38]
Chr4:155507967 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_021871.4(FGA):c.193C>A (p.Pro65Thr) single nucleotide variant not provided [RCV000722253] Chr4:154588964 [GRCh38]
Chr4:155510116 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_000508.5(FGA):c.2434T>C (p.Cys812Arg) single nucleotide variant not provided [RCV000722976] Chr4:154584291 [GRCh38]
Chr4:155505443 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_021871.4(FGA):c.502C>T (p.Arg168Ter) single nucleotide variant Afibrinogenemia, congenital [RCV000454272] Chr4:154587520 [GRCh38]
Chr4:155508672 [GRCh37]
Chr4:4q31.3
pathogenic
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_000508.5(FGA):c.2089G>A (p.Gly697Ser) single nucleotide variant AFib amyloidosis [RCV000627058] Chr4:154584636 [GRCh38]
Chr4:155505788 [GRCh37]
Chr4:4q31.3
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
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_021871.4(FGA):c.*133G>A single nucleotide variant Afibrinogenemia, congenital [RCV001148383]|Familial visceral amyloidosis, Ostertag type [RCV001148384] Chr4:154585361 [GRCh38]
Chr4:155506513 [GRCh37]
Chr4:4q31.3
benign|uncertain significance
NM_021871.4(FGA):c.1025G>A (p.Gly342Glu) single nucleotide variant Afibrinogenemia, congenital [RCV001148494]|Familial visceral amyloidosis, Ostertag type [RCV001148493] Chr4:154586404 [GRCh38]
Chr4:155507556 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_021871.4(FGA):c.780G>A (p.Glu260=) single nucleotide variant not provided [RCV000879648] Chr4:154586649 [GRCh38]
Chr4:155507801 [GRCh37]
Chr4:4q31.3
benign
NM_021871.4(FGA):c.811C>T (p.Arg271Ter) single nucleotide variant Afibrinogenemia, congenital [RCV000984799] Chr4:154586618 [GRCh38]
Chr4:155507770 [GRCh37]
Chr4:4q31.3
pathogenic
NM_021871.4(FGA):c.1103del (p.Gly368fs) deletion FGA-Related Disorders [RCV000779433] Chr4:154586326 [GRCh38]
Chr4:155507478 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_021871.4(FGA):c.300G>A (p.Lys100=) single nucleotide variant Afibrinogenemia, congenital [RCV001143942]|Familial visceral amyloidosis, Ostertag type [RCV001143941]|not provided [RCV000964974] Chr4:154588857 [GRCh38]
Chr4:155510009 [GRCh37]
Chr4:4q31.3
benign|likely benign
NM_021871.4(FGA):c.1155A>G (p.Gln385=) single nucleotide variant not provided [RCV000921628] Chr4:154586274 [GRCh38]
Chr4:155507426 [GRCh37]
Chr4:4q31.3
likely benign
NM_021871.4(FGA):c.1366A>G (p.Thr456Ala) single nucleotide variant Abnormal bleeding [RCV001270514]|Afibrinogenemia, congenital [RCV001145722]|Familial visceral amyloidosis, Ostertag type [RCV001145723]|not provided [RCV000964973] Chr4:154586063 [GRCh38]
Chr4:155507215 [GRCh37]
Chr4:4q31.3
benign|likely benign|uncertain significance
NM_021871.4(FGA):c.532C>T (p.Arg178Ter) single nucleotide variant FGA-Related Disorders [RCV000779434] Chr4:154586897 [GRCh38]
Chr4:155508049 [GRCh37]
Chr4:4q31.3
likely pathogenic
NM_021871.4(FGA):c.187A>T (p.Lys63Ter) single nucleotide variant FGA-Related Disorders [RCV000779435] Chr4:154588970 [GRCh38]
Chr4:155510122 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_021871.4(FGA):c.103C>A (p.Arg35Ser) single nucleotide variant Hypofibrinogenemia [RCV000851968] Chr4:154589514 [GRCh38]
Chr4:155510666 [GRCh37]
Chr4:4q31.3
pathogenic
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_021871.4(FGA):c.1912G>A (p.Gly638Arg) single nucleotide variant Afibrinogenemia, congenital [RCV001149944]|Familial visceral amyloidosis, Ostertag type [RCV001149943] Chr4:154585517 [GRCh38]
Chr4:155506669 [GRCh37]
Chr4:4q31.3
benign|uncertain significance
NM_021871.4(FGA):c.1207G>A (p.Ala403Thr) single nucleotide variant Afibrinogenemia, congenital [RCV001145724]|Familial visceral amyloidosis, Ostertag type [RCV001145725] Chr4:154586222 [GRCh38]
Chr4:155507374 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_021871.4(FGA):c.1918C>G (p.Pro640Ala) single nucleotide variant Afibrinogenemia, congenital [RCV001149941]|Familial visceral amyloidosis, Ostertag type [RCV001149942] Chr4:154585511 [GRCh38]
Chr4:155506663 [GRCh37]
Chr4:4q31.3
benign|uncertain significance
NM_021871.4(FGA):c.1072G>A (p.Gly358Arg) single nucleotide variant Afibrinogenemia, congenital [RCV001145727]|Familial visceral amyloidosis, Ostertag type [RCV001145726] Chr4:154586357 [GRCh38]
Chr4:155507509 [GRCh37]
Chr4:4q31.3
benign|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_021871.4(FGA):c.104G>C (p.Arg35Pro) single nucleotide variant Hypofibrinogenemia [RCV000851972] Chr4:154589513 [GRCh38]
Chr4:155510665 [GRCh37]
Chr4:4q31.3
pathogenic
NM_021871.4(FGA):c.327_337del (p.Met110fs) deletion not provided [RCV001008940] Chr4:154588820..154588830 [GRCh38]
Chr4:155509972..155509982 [GRCh37]
Chr4:4q31.3
pathogenic
NM_021871.4(FGA):c.922C>T (p.Arg308Ter) single nucleotide variant Hypofibrinogenemia [RCV000852248] Chr4:154586507 [GRCh38]
Chr4:155507659 [GRCh37]
Chr4:4q31.3
likely pathogenic
NM_021871.4(FGA):c.1621G>C (p.Val541Leu) single nucleotide variant Familial visceral amyloidosis, Ostertag type [RCV000987481] Chr4:154585808 [GRCh38]
Chr4:155506960 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_021871.4(FGA):c.1718G>A (p.Arg573His) single nucleotide variant Afibrinogenemia, congenital [RCV001145522]|Familial visceral amyloidosis, Ostertag type [RCV001145521] Chr4:154585711 [GRCh38]
Chr4:155506863 [GRCh37]
Chr4:4q31.3
benign|uncertain significance
NM_021871.4(FGA):c.945del (p.Gly316fs) deletion Hypofibrinogenemia [RCV000851912] Chr4:154586484 [GRCh38]
Chr4:155507636 [GRCh37]
Chr4:4q31.3
pathogenic
NM_021871.4(FGA):c.1472G>A (p.Cys491Tyr) single nucleotide variant Hypofibrinogenemia [RCV000852035] Chr4:154585957 [GRCh38]
Chr4:155507109 [GRCh37]
Chr4:4q31.3
likely pathogenic
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_021871.4(FGA):c.117del (p.Val40fs) deletion Hypofibrinogenemia [RCV000852003] Chr4:154589500 [GRCh38]
Chr4:155510652 [GRCh37]
Chr4:4q31.3
likely pathogenic
NM_021871.4(FGA):c.1760C>G (p.Thr587Arg) single nucleotide variant Familial visceral amyloidosis, Ostertag type [RCV000855410] Chr4:154585669 [GRCh38]
Chr4:155506821 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_000508.5(FGA):c.2244T>C (p.Ala748=) single nucleotide variant not provided [RCV000886341] Chr4:154584481 [GRCh38]
Chr4:155505633 [GRCh37]
Chr4:4q31.3
likely benign
NM_021871.4(FGA):c.1560C>T (p.Phe520=) single nucleotide variant not provided [RCV000933781] Chr4:154585869 [GRCh38]
Chr4:155507021 [GRCh37]
Chr4:4q31.3
likely benign
NM_000508.5(FGA):c.2587del (p.Leu863_Val864insTer) deletion Familial visceral amyloidosis, Ostertag type [RCV000987480] Chr4:154584138 [GRCh38]
Chr4:155505290 [GRCh37]
Chr4:4q31.3
benign
NM_021871.4(FGA):c.1113del (p.His372fs) deletion not provided [RCV001008260] Chr4:154586316 [GRCh38]
Chr4:155507468 [GRCh37]
Chr4:4q31.3
likely pathogenic
NM_021871.4(FGA):c.181-14C>T single nucleotide variant Afibrinogenemia, congenital [RCV001145838]|Familial visceral amyloidosis, Ostertag type [RCV001145837] Chr4:154588990 [GRCh38]
Chr4:155510142 [GRCh37]
Chr4:4q31.3
benign|likely benign
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_021871.4(FGA):c.1615G>A (p.Glu539Lys) single nucleotide variant Familial visceral amyloidosis, Ostertag type [RCV001200879] Chr4:154585814 [GRCh38]
Chr4:155506966 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_021871.4(FGA):c.215G>A (p.Gly72Glu) single nucleotide variant Familial visceral amyloidosis, Ostertag type [RCV001251021] Chr4:154588942 [GRCh38]
Chr4:155510094 [GRCh37]
Chr4:4q31.3
uncertain significance
NM_021871.4(FGA):c.8C>T (p.Ser3Phe) single nucleotide variant not provided [RCV001338449] Chr4:154590680 [GRCh38]
Chr4:155511832 [GRCh37]
Chr4:4q31.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3661 AgrOrtholog
COSMIC FGA COSMIC
Ensembl Genes ENSG00000171560 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000385981 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000478487 UniProtKB/TrEMBL
  ENSP00000498441 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000403106 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000622532 UniProtKB/TrEMBL
  ENST00000651975 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000171560 GTEx
HGNC ID HGNC:3661 ENTREZGENE
Human Proteome Map FGA Human Proteome Map
InterPro Fibrinogen-like_C UniProtKB/Swiss-Prot
  Fibrinogen_a/b/g_C_dom UniProtKB/Swiss-Prot
  Fibrinogen_a/b/g_coil_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fibrinogen_aC UniProtKB/Swiss-Prot
  Fibrinogen_alpha UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fibrinogen_CS UniProtKB/Swiss-Prot
KEGG Report hsa:2243 UniProtKB/Swiss-Prot
NCBI Gene 2243 ENTREZGENE
OMIM 105200 OMIM
  134820 OMIM
  202400 OMIM
  616004 OMIM
PANTHER PTHR47221 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Fib_alpha UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fibrinogen_aC UniProtKB/Swiss-Prot
  Fibrinogen_C UniProtKB/Swiss-Prot
PharmGKB PA429 PharmGKB
PROSITE FIBRINOGEN_C_1 UniProtKB/Swiss-Prot
  FIBRINOGEN_C_2 UniProtKB/Swiss-Prot
SMART FBG UniProtKB/Swiss-Prot
  Fib_alpha UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56496 UniProtKB/Swiss-Prot
UniProt A0A087WUA0_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3E8_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3E9_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3M3_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3P3_HUMAN UniProtKB/TrEMBL
  FIBA_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q3KRA7_HUMAN UniProtKB/TrEMBL
  Q6NSD8_HUMAN UniProtKB/TrEMBL
  Q86Z09_HUMAN UniProtKB/TrEMBL
  Q8WW76_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8K3E4 UniProtKB/Swiss-Prot
  D3DP14 UniProtKB/Swiss-Prot
  D3DP15 UniProtKB/Swiss-Prot
  Q4QQH7 UniProtKB/Swiss-Prot
  Q9BX62 UniProtKB/Swiss-Prot
  Q9UCH2 UniProtKB/Swiss-Prot