FGG (fibrinogen gamma chain) - Rat Genome Database

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Gene: FGG (fibrinogen gamma chain) Homo sapiens
Analyze
Symbol: FGG
Name: fibrinogen gamma chain
RGD ID: 731481
HGNC Page HGNC:3694
Description: Enables cell adhesion molecule binding activity; signaling receptor binding activity; and structural molecule activity. Involved in several processes, including blood coagulation; negative regulation of apoptotic process; and positive regulation of secretion by cell. Located in external side of plasma membrane; extracellular space; and platelet alpha granule. Part of fibrinogen complex. Implicated in brain small vessel disease; congenital afibrinogenemia; and multiple myeloma. Biomarker of type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: fibrinogen, gamma polypeptide; testicular tissue protein Li 70
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384154,604,136 - 154,612,656 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4154,604,134 - 154,612,967 (-)EnsemblGRCh38hg38GRCh38
GRCh374155,525,288 - 155,533,808 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364155,744,736 - 155,753,352 (-)NCBINCBI36Build 36hg18NCBI36
Build 344155,883,339 - 155,891,408NCBI
Celera4152,856,249 - 152,864,865 (-)NCBICelera
Cytogenetic Map4q32.1NCBI
HuRef4151,265,862 - 151,274,478 (-)NCBIHuRef
CHM1_14155,503,216 - 155,511,832 (-)NCBICHM1_1
T2T-CHM13v2.04157,935,943 - 157,944,463 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1-naphthyl isothiocyanate  (ISO)
1-Oleoyl-2-acetyl-sn-glycerol  (EXP)
17alpha-ethynylestradiol  (EXP)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acetylsalicylic acid  (EXP)
ADP  (EXP)
aflatoxin B1  (EXP)
aflatoxin M1  (EXP)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
arachidonyl-2'-chloroethylamide  (ISO)
aristolochic acids  (ISO)
Azaspiracid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (EXP)
bexarotene  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bromobenzene  (ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
calcium silicate  (ISO)
carbon nanotube  (ISO)
carnosic acid  (ISO)
CGP 52608  (EXP)
CHIR 99021  (EXP)
chlorpyrifos  (ISO)
chromium trinitrate  (ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP,ISO)
copper(II) sulfate  (EXP)
coumarin  (ISO)
crocidolite asbestos  (EXP,ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP)
D-glucose  (ISO)
dabigatran  (ISO)
dibenz[a,h]anthracene  (EXP)
diclofenac  (ISO)
dicrotophos  (EXP)
dienogest  (EXP)
diethyl maleate  (ISO)
diisopropyl fluorophosphate  (ISO)
dimethyl sulfoxide  (ISO)
dioxygen  (ISO)
diquat  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
elemental selenium  (ISO)
endosulfan  (ISO)
fenofibrate  (ISO)
fenthion  (ISO)
folic acid  (ISO)
fructose  (ISO)
furan  (ISO)
gemcitabine  (EXP)
gestodene  (EXP)
glucose  (ISO)
glyphosate  (ISO)
graphene oxide  (ISO)
hyaluronic acid  (ISO)
hydrogen peroxide  (EXP,ISO)
icariin  (ISO)
inulin  (ISO)
L-ascorbic acid  (EXP)
L-ascorbic acid 2-phosphate  (EXP)
lead diacetate  (ISO)
levonorgestrel  (EXP)
malathion  (EXP)
menadione  (EXP)
methidathion  (ISO)
methylmercury chloride  (EXP)
N-nitrosodiethylamine  (ISO)
natamycin  (ISO)
nefazodone  (ISO)
nitrofen  (ISO)
norethisterone  (EXP)
norgestimate  (EXP)
nystatin  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
pentanal  (EXP)
perfluorobutanesulfonic acid  (EXP)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
phenethyl caffeate  (ISO)
phenylmercury acetate  (EXP)
phorbol 13-acetate 12-myristate  (EXP,ISO)
pirinixic acid  (ISO)
potassium chromate  (ISO)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propanal  (EXP)
quartz  (ISO)
quercetin  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
selenium atom  (ISO)
silicon dioxide  (EXP,ISO)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenite  (ISO)
sodium fluoride  (ISO)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
titanium dioxide  (ISO)
tremolite asbestos  (ISO)
tributylstannane  (ISO)
Triptolide  (ISO)
urethane  (EXP)
ursodeoxycholic acid  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vitamin E  (ISO)
vitamin K  (ISO)
XAV939  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Hepatic fibrinogen storage disease: identification of two novel mutations (p.Asp316Asn, fibrinogen Pisa and p.Gly366Ser, fibrinogen Beograd) impacting on the fibrinogen gamma-module. Asselta R, etal., J Thromb Haemost. 2015 Aug;13(8):1459-67. doi: 10.1111/jth.13021. Epub 2015 Jul 14.
2. Molecular characterization of 7 patients affected by dys- or hypo-dysfibrinogenemia: Identification of a novel mutation in the fibrinogen Bbeta chain causing a gain of glycosylation. Asselta R, etal., Thromb Res. 2015 Jul;136(1):168-74. doi: 10.1016/j.thromres.2015.05.007. Epub 2015 May 14.
3. Novel fibrinogen gamma375 Arg-->Trp mutation (fibrinogen aguadilla) causes hepatic endoplasmic reticulum storage and hypofibrinogenemia. Brennan SO, etal., Hepatology. 2002 Sep;36(3):652-8.
4. Abnormal expression of Smurf2 during the process of rat liver fibrosis. Cai Y, etal., Chin J Dig Dis. 2006;7(4):237-45.
5. 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.
6. 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.
7. Profiling of gender-specific rat plasma proteins associated with susceptibility or resistance to diet-induced obesity. Choi JW, etal., J Proteomics. 2012 Feb 2;75(4):1386-400. doi: 10.1016/j.jprot.2011.11.012. Epub 2011 Nov 20.
8. [Comparative plasma proteomic analysis of patients with multiple myeloma treated with bortezomib-based regimens]. Cumova J, etal., Klin Onkol. 2012;25(1):17-25.
9. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
10. 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.
11. Identification of a novel splicing mutation in the fibrinogen gamma chain gene leading to dysfibrinogenaemia in a Chinese pedigree. Huang D, etal., Pathology. 2015 Feb;47(2):145-50. doi: 10.1097/PAT.0000000000000213.
12. 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.
13. 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.
14. Fibrinogen Hangzhou: congenital dysfibrinogenemia caused by the novel missense mutation in FGG (gamma308Asn-->Thr). Liao Z, etal., Clin Chim Acta. 2014 Jan 20;428:106-9.
15. 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.
16. A G-to-A mutation in IVS-3 of the human gamma fibrinogen gene causing afibrinogenemia due to abnormal RNA splicing. Margaglione M, etal., Blood 2000 Oct 1;96(7):2501-5.
17. Novel fibrinogen mutation (gamma 313 Ser-->Asn) associated with hypofibrinogenemia in two unrelated families. Meyer M, etal., Blood Coagul Fibrinolysis. 2006 Jan;17(1):63-7.
18. Fibrinogen and fibrin structure and functions. Mosesson MW J Thromb Haemost. 2005 Aug;3(8):1894-904.
19. Plasma fibrinogen gamma' chain content in the thrombotic microangiopathy syndrome. Mosesson MW, etal., J Thromb Haemost. 2007 Jan;5(1):62-9. Epub 2006 Oct 13.
20. Expression and analysis of a split premature termination codon in FGG responsible for congenital afibrinogenemia: escape from RNA surveillance mechanisms in transfected cells. Neerman-Arbez M, etal., Blood. 2004 Dec 1;104(12):3618-23. Epub 2004 Jul 29.
21. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
22. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
23. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
24. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
25. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
26. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
27. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
28. The responses of rat liver glucocorticoid receptors and genes for tyrosine aminotransferase, alpha-2-macroglobulin and gamma-fibrinogen to adrenalectomy-, dexamethasone- and inflammation-induced changes in the levels of glucocorticoids and proinflammatory cytokines. Sevaljevic L, etal., Biol Signals Recept. 2001 Sep-Oct;10(5):299-309.
29. Fibrinogen Seoul (FGG Ala341Asp): a novel mutation associated with hypodysfibrinogenemia. Song KS, etal., Clin Appl Thromb Hemost. 2006 Jul;12(3):338-43.
30. Molecular basis of quantitative fibrinogen disorders in 27 patients from India. Sumitha E, etal., Haemophilia. 2013 Jul;19(4):611-8. doi: 10.1111/hae.12143. Epub 2013 Apr 8.
31. Proteomic analysis of plasma from rats following total parenteral nutrition-induced liver injury. Tsai JJ, etal., Proteomics. 2015 Nov;15(22):3865-74. doi: 10.1002/pmic.201500128.
32. Haplotypes of the fibrinogen gene and cerebral small vessel disease: the Rotterdam scan study. van Oijen M, etal., J Neurol Neurosurg Psychiatry. 2008 Jul;79(7):799-803. Epub 2007 Oct 19.
33. Uncovering the protective mechanism of Huoxue Anxin Recipe against coronary heart disease by network analysis and experimental validation. Wang J, etal., Biomed Pharmacother. 2020 Jan;121:109655. doi: 10.1016/j.biopha.2019.109655. Epub 2019 Nov 14.
34. Proteomics of microparticles after experimental pulmonary embolism. Watts JA, etal., Thromb Res. 2011 Oct 17.
35. A novel fibrinogen mutation (gamma Thr277Arg) causes hereditary hypofibrinogenemia in a Chinese family. Zhu L, etal., Blood Coagul Fibrinolysis. 2013 Sep;24(6):642-4. doi: 10.1097/MBC.0b013e32835facdc.
36. Novel mutations (gammaTrp208Leu and gammaLys232Thr) leading to congenital hypofibrinogenemia in two unrelated Chinese families. Zhu L, etal., Blood Coagul Fibrinolysis. 2014 Dec;25(8):894-7. doi: 10.1097/MBC.0000000000000156.
Additional References at PubMed
PMID:936108   PMID:1421174   PMID:1429662   PMID:1455400   PMID:1685103   PMID:1733971   PMID:1744509   PMID:1892842   PMID:2071611   PMID:2133219   PMID:2257302   PMID:2328317  
PMID:2496144   PMID:2665853   PMID:2738036   PMID:2742826   PMID:2819242   PMID:2971042   PMID:2971046   PMID:2976995   PMID:2990550   PMID:3160702   PMID:3337908   PMID:3563970  
PMID:3708159   PMID:5084810   PMID:6091742   PMID:6092346   PMID:6281794   PMID:6325435   PMID:6326808   PMID:6383194   PMID:6451630   PMID:6575389   PMID:6575689   PMID:6592597  
PMID:6688357   PMID:6689067   PMID:6777381   PMID:6860649   PMID:6933547   PMID:6957371   PMID:7306501   PMID:7356959   PMID:7499336   PMID:7822297   PMID:7841300   PMID:7878009  
PMID:8080993   PMID:8100742   PMID:8384496   PMID:8400260   PMID:8404605   PMID:8470043   PMID:8566791   PMID:8756701   PMID:8905624   PMID:8910396   PMID:9016719   PMID:9028318  
PMID:9207064   PMID:9333233   PMID:9628725   PMID:9712878   PMID:10074346   PMID:10391209   PMID:10467729   PMID:10605720   PMID:10747940   PMID:10788510   PMID:10828988   PMID:10903502  
PMID:11001902   PMID:11073102   PMID:11307817   PMID:11435303   PMID:11562340   PMID:11744726   PMID:11748101   PMID:11986213   PMID:11986220   PMID:12356313   PMID:12477932   PMID:12501189  
PMID:12617173   PMID:12624729   PMID:12663453   PMID:12706644   PMID:12871494   PMID:12900415   PMID:14691567   PMID:14760718   PMID:14764520   PMID:15217804   PMID:15304042   PMID:15311153  
PMID:15489334   PMID:15583736   PMID:15632207   PMID:15641787   PMID:15671034   PMID:15735812   PMID:15739255   PMID:15773976   PMID:15795540   PMID:16005629   PMID:16051597   PMID:16113784  
PMID:16141000   PMID:16144795   PMID:16263699   PMID:16335952   PMID:16363805   PMID:16420584   PMID:16502470   PMID:16524883   PMID:16525568   PMID:16581250   PMID:16614319   PMID:16705085  
PMID:16706972   PMID:16846481   PMID:16877710   PMID:16928957   PMID:16940416   PMID:17018627   PMID:17241179   PMID:17263791   PMID:17264959   PMID:17403086   PMID:17445871   PMID:17543500  
PMID:17565664   PMID:17591786   PMID:17643375   PMID:17650452   PMID:17688324   PMID:17827388   PMID:17849064   PMID:17854317   PMID:17883696   PMID:17938819   PMID:17949478   PMID:17956865  
PMID:18000621   PMID:18202324   PMID:18208536   PMID:18239174   PMID:18331453   PMID:18567199   PMID:18676163   PMID:18690352   PMID:18772067   PMID:18779330   PMID:18832913   PMID:18842294  
PMID:18848323   PMID:18974842   PMID:18983496   PMID:18989528   PMID:19034331   PMID:19056867   PMID:19059206   PMID:19122172   PMID:19190816   PMID:19193866   PMID:19332210   PMID:19404553  
PMID:19412134   PMID:19492150   PMID:19515723   PMID:19650644   PMID:19687509   PMID:19913121   PMID:19923982   PMID:19948975   PMID:20031577   PMID:20059469   PMID:20128871   PMID:20167083  
PMID:20237496   PMID:20508898   PMID:20589319   PMID:20628086   PMID:20666993   PMID:20709368   PMID:20838743   PMID:20981788   PMID:21057694   PMID:21103663   PMID:21174007   PMID:21420681  
PMID:21502573   PMID:21546586   PMID:21694469   PMID:21757653   PMID:21873635   PMID:21980494   PMID:22078561   PMID:22437918   PMID:22463367   PMID:22489912   PMID:22516433   PMID:22760446  
PMID:22836683   PMID:23036532   PMID:23056168   PMID:23061815   PMID:23306717   PMID:23348147   PMID:23376485   PMID:23385359   PMID:23422752   PMID:23533145   PMID:23645504   PMID:23650146  
PMID:23750785   PMID:23852822   PMID:23877568   PMID:23969696   PMID:23990470   PMID:23995838   PMID:24011387   PMID:24040290   PMID:24041635   PMID:24337577   PMID:24352576   PMID:24556703  
PMID:24791650   PMID:24803720   PMID:24916154   PMID:24951429   PMID:24981860   PMID:25037231   PMID:25042726   PMID:25074738   PMID:25128532   PMID:25156046   PMID:25213709   PMID:25241761  
PMID:25280629   PMID:25296580   PMID:25413489   PMID:25427968   PMID:25588350   PMID:25592583   PMID:25614284   PMID:25688462   PMID:25788521   PMID:25798074   PMID:25816717   PMID:25828970  
PMID:25896761   PMID:25981141   PMID:25982359   PMID:25990487   PMID:26037343   PMID:26148065   PMID:26176881   PMID:26186194   PMID:26344197   PMID:26494231   PMID:26496610   PMID:26540127  
PMID:26608329   PMID:26627825   PMID:26663050   PMID:26916295   PMID:27044366   PMID:27060305   PMID:27180117   PMID:27221710   PMID:27561317   PMID:27677677   PMID:27738342   PMID:27760719  
PMID:27771416   PMID:27784620   PMID:27999448   PMID:28318107   PMID:28327460   PMID:28344315   PMID:28350862   PMID:28353616   PMID:28514442   PMID:28551622   PMID:28675934   PMID:29240685  
PMID:29244742   PMID:29748775   PMID:29769041   PMID:29995659   PMID:30021884   PMID:30039577   PMID:30106150   PMID:30412835   PMID:30512152   PMID:30897531   PMID:31131962   PMID:31295712  
PMID:31479941   PMID:31484085   PMID:31484330   PMID:31582554   PMID:32126779   PMID:32286477   PMID:32610551   PMID:32877852   PMID:33194618   PMID:33260935   PMID:33276061   PMID:33306830  
PMID:33367543   PMID:33682960   PMID:33864425   PMID:33961781   PMID:34069309   PMID:34117991   PMID:34438442   PMID:34650049   PMID:34732716   PMID:34813608   PMID:35944360   PMID:36273042  
PMID:36599322   PMID:36964488   PMID:37076872   PMID:37343697   PMID:37450367   PMID:37906135   PMID:38172120   PMID:38233949   PMID:38374144   PMID:39147351   PMID:39198643  


Genomics

Comparative Map Data
FGG
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384154,604,136 - 154,612,656 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4154,604,134 - 154,612,967 (-)EnsemblGRCh38hg38GRCh38
GRCh374155,525,288 - 155,533,808 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364155,744,736 - 155,753,352 (-)NCBINCBI36Build 36hg18NCBI36
Build 344155,883,339 - 155,891,408NCBI
Celera4152,856,249 - 152,864,865 (-)NCBICelera
Cytogenetic Map4q32.1NCBI
HuRef4151,265,862 - 151,274,478 (-)NCBIHuRef
CHM1_14155,503,216 - 155,511,832 (-)NCBICHM1_1
T2T-CHM13v2.04157,935,943 - 157,944,463 (-)NCBIT2T-CHM13v2.0
Fgg
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39382,915,031 - 82,922,363 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl382,915,031 - 82,922,356 (+)EnsemblGRCm39 Ensembl
GRCm38383,007,724 - 83,015,056 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl383,007,724 - 83,015,049 (+)EnsemblGRCm38mm10GRCm38
MGSCv37382,811,818 - 82,818,971 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36383,093,823 - 83,100,976 (+)NCBIMGSCv36mm8
Celera383,011,995 - 83,019,099 (+)NCBICelera
Cytogenetic Map3E3NCBI
cM Map336.94NCBI
Fgg
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82170,652,929 - 170,660,372 (+)NCBIGRCr8
mRatBN7.22168,354,880 - 168,362,325 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2168,355,013 - 168,362,322 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2175,545,169 - 175,552,469 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02173,566,102 - 173,573,404 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02168,167,520 - 168,174,818 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02181,987,080 - 181,994,523 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2181,987,217 - 181,994,514 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02201,401,700 - 201,409,143 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42174,727,312 - 174,734,594 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12174,677,417 - 174,684,698 (+)NCBI
Celera2162,381,731 - 162,389,018 (+)NCBICelera
Cytogenetic Map2q34NCBI
Fgg
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554718,786,910 - 8,795,013 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554718,786,910 - 8,794,947 (+)NCBIChiLan1.0ChiLan1.0
FGG
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23152,516,571 - 152,539,442 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14152,872,009 - 152,886,596 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v04146,970,671 - 146,979,348 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14158,788,761 - 158,797,460 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4158,788,966 - 158,797,237 (-)Ensemblpanpan1.1panPan2
FGG
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11552,261,215 - 52,270,077 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1552,261,217 - 52,269,964 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1552,605,731 - 52,614,513 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01552,948,278 - 52,957,065 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1552,948,283 - 52,957,026 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11552,203,172 - 52,211,960 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01552,307,741 - 52,316,537 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01552,622,568 - 52,631,351 (-)NCBIUU_Cfam_GSD_1.0
Fgg
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530138,194,766 - 38,203,257 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365761,343,661 - 1,352,143 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365761,343,657 - 1,352,085 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FGG
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl874,553,105 - 74,563,688 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1874,553,040 - 74,562,151 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2878,850,804 - 78,859,881 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FGG
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.17101,148,457 - 101,157,245 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl7101,148,058 - 101,157,111 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603780,803,057 - 80,811,786 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fgg
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248585,827,316 - 5,838,170 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248585,828,334 - 5,836,382 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FGG
135 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
FIBRINOGEN KYOTO 1 single nucleotide variant FIBRINOGEN KYOTO 1 [RCV000017784] Chr4:154606832 [GRCh38]
Chr4:155527984 [GRCh37]
Chr4:4q32.1
other
FIBRINOGEN VLISSINGEN 1 microsatellite FIBRINOGEN VLISSINGEN 1 [RCV000017787] Chr4:154606797..154606802 [GRCh38]
Chr4:155527949..155527954 [GRCh37]
Chr4:4q32.1
likely pathogenic|other
FIBRINOGEN PARIS 1 single nucleotide variant Congenital afibrinogenemia [RCV002247352]|FGG-related disorder [RCV003934838]|FIBRINOGEN PARIS 1 [RCV000017793]|not provided [RCV003436923]|not specified [RCV003317040] Chr4:154606073 [GRCh38]
Chr4:155527225 [GRCh37]
Chr4:4q32.1
pathogenic|benign|uncertain significance|other
FIBRINOGEN OSLO 3 variation FIBRINOGEN OSLO III [RCV000017794] Chr4:4q28 other
NM_021870.3(FGG):c.78+5G>A single nucleotide variant Congenital afibrinogenemia [RCV000017798]|Hypofibrinogenemia [RCV000852217] Chr4:154612527 [GRCh38]
Chr4:155533679 [GRCh37]
Chr4:4q32.1
pathogenic|likely pathogenic
NM_021870.3(FGG):c.307+5G>A single nucleotide variant Congenital afibrinogenemia [RCV000017799] Chr4:154612013 [GRCh38]
Chr4:155533165 [GRCh37]
Chr4:4q32.1
pathogenic
NM_021870.3(FGG):c.667-320A>T single nucleotide variant Congenital afibrinogenemia [RCV000017802] Chr4:154608970 [GRCh38]
Chr4:155530122 [GRCh37]
Chr4:4q32.1
pathogenic
NM_021870.2(FGG):c.901C>T (p.Arg301Cys) single nucleotide variant Afibrinogenemia [RCV002243649]|FGG-related disorder [RCV004754264]|FIBRINOGEN TOKYO 2 [RCV000017772]|Familial dysfibrinogenemia [RCV002272022]|Hypofibrinogenemia [RCV000851951]|not provided [RCV003137533] Chr4:154606933 [GRCh38]
Chr4:155528085 [GRCh37]
Chr4:4q32.1
pathogenic|likely pathogenic|other
NM_021870.2(FGG):c.902G>A (p.Arg301His) single nucleotide variant Congenital afibrinogenemia [RCV004795922]|FIBRINOGEN HAIFA 1 [RCV000017777]|Familial dysfibrinogenemia [RCV002225266]|Hypofibrinogenemia [RCV000851952]|not provided [RCV003151729] Chr4:154606932 [GRCh38]
Chr4:155528084 [GRCh37]
Chr4:4q32.1
pathogenic|other
NM_021870.2(FGG):c.953G>T (p.Gly318Val) single nucleotide variant FGG-related disorder [RCV003944828]|FIBRINOGEN BALTIMORE 1 [RCV000017783] Chr4:154606881 [GRCh38]
Chr4:155528033 [GRCh37]
Chr4:4q32.1
uncertain significance|other
NM_021870.2(FGG):c.1001A>T (p.Asn334Ile) single nucleotide variant FIBRINOGEN BALTIMORE 3 [RCV000017785]|not provided [RCV002513087] Chr4:154606833 [GRCh38]
Chr4:155527985 [GRCh37]
Chr4:4q32.1
uncertain significance|other
NM_021870.2(FGG):c.1007T>C (p.Met336Thr) single nucleotide variant FGG-related disorder [RCV003398534]|FIBRINOGEN ASAHI [RCV000017786]|Familial dysfibrinogenemia [RCV001797589]|not provided [RCV004777563] Chr4:154606827 [GRCh38]
Chr4:155527979 [GRCh37]
Chr4:4q32.1
pathogenic|likely pathogenic|other
NM_021870.2(FGG):c.1064A>G (p.Gln355Arg) single nucleotide variant FIBRINOGEN NAGOYA 1 [RCV000017788] Chr4:154606770 [GRCh38]
Chr4:155527922 [GRCh37]
Chr4:4q32.1
other
NM_021870.2(FGG):c.1066G>T (p.Asp356Tyr) single nucleotide variant FIBRINOGEN KYOTO 3 [RCV000017789] Chr4:154606768 [GRCh38]
Chr4:155527920 [GRCh37]
Chr4:4q32.1
other
NM_021870.2(FGG):c.1067A>T (p.Asp356Val) single nucleotide variant FIBRINOGEN MILANO 1 [RCV000017790] Chr4:154606767 [GRCh38]
Chr4:155527919 [GRCh37]
Chr4:4q32.1
pathogenic|other
NM_021870.2(FGG):c.1201C>G (p.Arg401Gly) single nucleotide variant FIBRINOGEN OSAKA 5 [RCV000017795] Chr4:154604995 [GRCh38]
Chr4:155526147 [GRCh37]
Chr4:4q32.1
other
NM_021870.2(FGG):c.1168G>C (p.Asp390His) single nucleotide variant FIBRINOGEN MATSUMOTO 1 [RCV000017796] Chr4:154605028 [GRCh38]
Chr4:155526180 [GRCh37]
Chr4:4q32.1
other
NM_021870.2(FGG):c.952G>C (p.Gly318Arg) single nucleotide variant FIBRINOGEN GIESSEN 4 [RCV000017797] Chr4:154606882 [GRCh38]
Chr4:155528034 [GRCh37]
Chr4:4q32.1
other
NM_021870.3(FGG):c.571G>A (p.Gly191Arg) single nucleotide variant Congenital afibrinogenemia [RCV001144043]|Familial dysfibrinogenemia [RCV002222000]|Fibrinogen Milano XII, digenic [RCV000017800]|Hypofibrinogenemia [RCV000851827]|not provided [RCV000963143]|not specified [RCV000791084] Chr4:154609725 [GRCh38]
Chr4:155530877 [GRCh37]
Chr4:4q32.1
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|other
NM_021870.2(FGG):c.926G>A (p.Gly309Asp) single nucleotide variant FIBRINOGEN HILLSBOROUGH [RCV000017801] Chr4:154606908 [GRCh38]
Chr4:155528060 [GRCh37]
Chr4:4q32.1
other
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_021870.3(FGG):c.966C>T (p.Gly322=) single nucleotide variant not provided [RCV002962169] Chr4:154606868 [GRCh38]
Chr4:155528020 [GRCh37]
Chr4:155747470 [NCBI36]
Chr4:4q32.1
likely benign|not provided
NM_021870.3(FGG):c.278C>T (p.Thr93Ile) single nucleotide variant not provided [RCV000657993] Chr4:154612047 [GRCh38]
Chr4:155533199 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) single nucleotide variant Abnormal bleeding [RCV000851595]|Abnormal bleeding [RCV001270551]|Congenital afibrinogenemia [RCV000660564]|Congenital afibrinogenemia [RCV004796268]|Congenital fibrinogen deficiency [RCV001559328]|FGG-related disorder [RCV004754521]|Familial dysfibrinogenemia [RCV003232069]|Thrombus [RCV002280883]|not provided [RCV000899510]|not specified [RCV001449762] Chr4:154611883 [GRCh38]
Chr4:154611883..154611884 [GRCh38]
Chr4:155533035 [GRCh37]
Chr4:155533035..155533036 [GRCh37]
Chr4:4q32.1
pathogenic|likely pathogenic|risk factor|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_021870.3(FGG):c.1210T>C (p.Ser404Pro) single nucleotide variant Hypodysfibrinogenemia [RCV000144152]|not provided [RCV001509237] Chr4:154604986 [GRCh38]
Chr4:155526138 [GRCh37]
Chr4:4q32.1
pathogenic|uncertain significance
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_021870.3(FGG):c.1285G>T (p.Gly429Trp) single nucleotide variant Congenital afibrinogenemia [RCV000259529]|not provided [RCV002520216] Chr4:154604911 [GRCh38]
Chr4:155526063 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.1030G>A (p.Asp344Asn) single nucleotide variant Inborn genetic diseases [RCV000623833] Chr4:154606804 [GRCh38]
Chr4:155527956 [GRCh37]
Chr4:4q32.1
likely pathogenic|uncertain significance
NM_000509.5(FGG):c.-130G>T single nucleotide variant Congenital afibrinogenemia [RCV000286364] Chr4:154612739 [GRCh38]
Chr4:155533891 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.502A>G (p.Thr168Ala) single nucleotide variant Congenital afibrinogenemia [RCV000274748] Chr4:154610097 [GRCh38]
Chr4:155531249 [GRCh37]
Chr4:4q32.1
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_021870.3(FGG):c.274C>T (p.Leu92Phe) single nucleotide variant Congenital afibrinogenemia [RCV000289840]|FGG-related disorder [RCV004754406] Chr4:154612051 [GRCh38]
Chr4:155533203 [GRCh37]
Chr4:4q32.1
likely benign|uncertain significance
NM_021870.3(FGG):c.309T>C (p.Asn103=) single nucleotide variant Congenital afibrinogenemia [RCV000384338]|not provided [RCV003546542] Chr4:154611897 [GRCh38]
Chr4:155533049 [GRCh37]
Chr4:4q32.1
benign|uncertain significance
NM_021870.3(FGG):c.19C>T (p.Pro7Ser) single nucleotide variant Congenital afibrinogenemia [RCV000326075]|Inborn genetic diseases [RCV002520217] Chr4:154612591 [GRCh38]
Chr4:155533743 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.418T>C (p.Tyr140His) single nucleotide variant Congenital afibrinogenemia [RCV000329738]|not provided [RCV000946818] Chr4:154610181 [GRCh38]
Chr4:155531333 [GRCh37]
Chr4:4q32.1
benign|likely benign
NM_021870.3(FGG):c.*488C>T single nucleotide variant Congenital afibrinogenemia [RCV000369894]|not provided [RCV002520215] Chr4:154604346 [GRCh38]
Chr4:155525498 [GRCh37]
Chr4:4q32.1
benign|likely benign|uncertain significance
NM_021870.3(FGG):c.1201C>T (p.Arg401Trp) single nucleotide variant Hereditary spastic paraplegia 4 [RCV003314519] Chr4:154604995 [GRCh38]
Chr4:155526147 [GRCh37]
Chr4:4q32.1
pathogenic
NM_000509.5(FGG):c.-53A>G single nucleotide variant Congenital afibrinogenemia [RCV000380795] Chr4:154612662 [GRCh38]
Chr4:155533814 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.1237A>G (p.Ile413Val) single nucleotide variant Congenital afibrinogenemia [RCV000333369]|not provided [RCV004695779] Chr4:154604959 [GRCh38]
Chr4:155526111 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000509.5(FGG):c.*216C>T single nucleotide variant Congenital afibrinogenemia [RCV000361528]|not provided [RCV001643130] Chr4:154604124 [GRCh38]
Chr4:154604124..154604125 [GRCh38]
Chr4:155525276 [GRCh37]
Chr4:155525276..155525277 [GRCh37]
Chr4:4q32.1
benign
NM_021870.3(FGG):c.667-10G>C single nucleotide variant Congenital afibrinogenemia [RCV000369358] Chr4:154608660 [GRCh38]
Chr4:155529812 [GRCh37]
Chr4:4q32.1
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
NM_021870.3(FGG):c.713A>G (p.Lys238Arg) single nucleotide variant not provided [RCV000497584] Chr4:154608604 [GRCh38]
Chr4:155529756 [GRCh37]
Chr4:4q32.1
uncertain significance
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_021870.3(FGG):c.1130G>T (p.Gly377Val) single nucleotide variant not specified [RCV003317941] Chr4:154605066 [GRCh38]
Chr4:155526218 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.1022G>A (p.Trp341Ter) single nucleotide variant Congenital afibrinogenemia [RCV000600509] Chr4:154606812 [GRCh38]
Chr4:155527964 [GRCh37]
Chr4:4q32.1
pathogenic
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_021870.3(FGG):c.78+9G>A single nucleotide variant Congenital afibrinogenemia [RCV001145947]|not provided [RCV000972584] Chr4:154612523 [GRCh38]
Chr4:155533675 [GRCh37]
Chr4:4q32.1
benign|likely benign
NM_021870.3(FGG):c.666+23T>A single nucleotide variant Congenital afibrinogenemia [RCV000984549] Chr4:154609607 [GRCh38]
Chr4:155530759 [GRCh37]
Chr4:4q32.1
pathogenic
NM_021870.3(FGG):c.140C>T (p.Thr47Ile) single nucleotide variant Abnormal bleeding [RCV000852024]|Congenital afibrinogenemia [RCV001145945]|FGG-related disorder [RCV003947972]|not provided [RCV003320738]|not specified [RCV001824877] Chr4:154612185 [GRCh38]
Chr4:155533337 [GRCh37]
Chr4:4q32.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
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_021870.3(FGG):c.952G>A (p.Gly318Ser) single nucleotide variant Hypofibrinogenemia [RCV000851954] Chr4:154606882 [GRCh38]
Chr4:155528034 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.*496A>C single nucleotide variant Congenital afibrinogenemia [RCV001148603]|FGG-related disorder [RCV003918733]|not specified [RCV004702653] Chr4:154604338 [GRCh38]
Chr4:155525490 [GRCh37]
Chr4:4q32.1
likely benign|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_021870.3(FGG):c.1258A>G (p.Ile420Val) single nucleotide variant Congenital afibrinogenemia [RCV001150186] Chr4:154604938 [GRCh38]
Chr4:155526090 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.620A>G (p.Tyr207Cys) single nucleotide variant Congenital afibrinogenemia [RCV001144042]|not provided [RCV000998311] Chr4:154609676 [GRCh38]
Chr4:155530828 [GRCh37]
Chr4:4q32.1
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_021870.3(FGG):c.677G>T (p.Gly226Val) single nucleotide variant Familial dysfibrinogenemia [RCV003479216]|Hypofibrinogenemia [RCV000851612] Chr4:154608640 [GRCh38]
Chr4:155529792 [GRCh37]
Chr4:4q32.1
likely pathogenic
NM_021870.3(FGG):c.331A>T (p.Lys111Ter) single nucleotide variant Abnormal bleeding [RCV000851634]|Familial dysfibrinogenemia [RCV003987698]|not provided [RCV004721586] Chr4:154611875 [GRCh38]
Chr4:155533027 [GRCh37]
Chr4:4q32.1
pathogenic
NM_021870.3(FGG):c.447C>A (p.Asn149Lys) single nucleotide variant Thromboembolism [RCV000851796] Chr4:154610152 [GRCh38]
Chr4:155531304 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.622T>C (p.Cys208Arg) single nucleotide variant Hypofibrinogenemia [RCV000851833] Chr4:154609674 [GRCh38]
Chr4:155530826 [GRCh37]
Chr4:4q32.1
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_021870.3(FGG):c.1289dup (p.Ala431fs) duplication not provided [RCV001008336] Chr4:154604906..154604907 [GRCh38]
Chr4:155526058..155526059 [GRCh37]
Chr4:4q32.1
likely pathogenic
NM_021870.3(FGG):c.185T>C (p.Val62Ala) single nucleotide variant Thromboembolism [RCV000852061] Chr4:154612140 [GRCh38]
Chr4:155533292 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.1099G>A (p.Ala367Thr) single nucleotide variant Familial dysfibrinogenemia [RCV002222049]|Hypofibrinogenemia [RCV000851656]|not provided [RCV003558570]|not specified [RCV003489859] Chr4:154606735 [GRCh38]
Chr4:155527887 [GRCh37]
Chr4:4q32.1
likely pathogenic|uncertain significance
NM_021870.3(FGG):c.1248C>T (p.Asn416=) single nucleotide variant not specified [RCV004783185] Chr4:154604948 [GRCh38]
Chr4:155526100 [GRCh37]
Chr4:4q32.1
likely benign
NM_021870.3(FGG):c.963del (p.Phe321fs) deletion Hypofibrinogenemia [RCV000851919] Chr4:154606871 [GRCh38]
Chr4:155528023 [GRCh37]
Chr4:4q32.1
likely pathogenic
NM_021870.3(FGG):c.683T>C (p.Val228Ala) single nucleotide variant Congenital afibrinogenemia [RCV001144041] Chr4:154608634 [GRCh38]
Chr4:155529786 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.*535A>G single nucleotide variant Congenital afibrinogenemia [RCV001148601] Chr4:154604299 [GRCh38]
Chr4:155525451 [GRCh37]
Chr4:4q32.1
likely benign
NM_021870.3(FGG):c.940G>A (p.Asp314Asn) single nucleotide variant not provided [RCV004812682] Chr4:154606894 [GRCh38]
Chr4:155528046 [GRCh37]
uncertain significance
NM_021870.3(FGG):c.1129+712G>A single nucleotide variant not provided [RCV001680058] Chr4:154605993 [GRCh38]
Chr4:155527145 [GRCh37]
Chr4:4q32.1
benign
NM_021870.3(FGG):c.401G>A (p.Arg134Gln) single nucleotide variant Congenital afibrinogenemia [RCV001144044] Chr4:154611805 [GRCh38]
Chr4:155532957 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.768T>C (p.Asn256=) single nucleotide variant not provided [RCV000913540] Chr4:154608549 [GRCh38]
Chr4:155529701 [GRCh37]
Chr4:4q32.1
likely benign
NM_021870.3(FGG):c.533-43C>T single nucleotide variant not provided [RCV001620561] Chr4:154609806 [GRCh38]
Chr4:155530958 [GRCh37]
Chr4:4q32.1
benign
NM_021870.3(FGG):c.1129+421G>A single nucleotide variant not provided [RCV001621530] Chr4:154606284 [GRCh38]
Chr4:155527436 [GRCh37]
Chr4:4q32.1
benign
NM_021870.3(FGG):c.*291C>T single nucleotide variant not provided [RCV001684444] Chr4:154604543 [GRCh38]
Chr4:155525695 [GRCh37]
Chr4:4q32.1
benign
NM_021870.3(FGG):c.*441T>A single nucleotide variant not provided [RCV001652603] Chr4:154604393 [GRCh38]
Chr4:155525545 [GRCh37]
Chr4:4q32.1
benign
NM_021870.3(FGG):c.*494A>G single nucleotide variant Congenital afibrinogenemia [RCV001148604] Chr4:154604340 [GRCh38]
Chr4:155525492 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.318C>T (p.Asp106=) single nucleotide variant Congenital afibrinogenemia [RCV001145944]|FGG-related disorder [RCV003953527] Chr4:154611888 [GRCh38]
Chr4:155533040 [GRCh37]
Chr4:4q32.1
likely benign|uncertain significance
NM_021870.3(FGG):c.124G>A (p.Gly42Ser) single nucleotide variant Congenital afibrinogenemia [RCV001145946]|not provided [RCV001171744]|not specified [RCV002249738] Chr4:154612201 [GRCh38]
Chr4:155533353 [GRCh37]
Chr4:4q32.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_021870.3(FGG):c.1125C>T (p.Tyr375=) single nucleotide variant Congenital afibrinogenemia [RCV001150187] Chr4:154606709 [GRCh38]
Chr4:155527861 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.*500C>T single nucleotide variant Congenital afibrinogenemia [RCV001148602]|not specified [RCV003490089] Chr4:154604334 [GRCh38]
Chr4:155525486 [GRCh37]
Chr4:4q32.1
uncertain significance
GRCh37/hg19 4q31.3-32.1(chr4:155528674-156370083)x3 copy number gain not provided [RCV001259878] Chr4:155528674..156370083 [GRCh37]
Chr4:4q31.3-32.1
likely benign
NM_021870.3(FGG):c.1019C>T (p.Thr340Ile) single nucleotide variant not provided [RCV002284325] Chr4:154606815 [GRCh38]
Chr4:155527967 [GRCh37]
Chr4:4q32.1
likely pathogenic
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_021870.3(FGG):c.685G>A (p.Asp229Asn) single nucleotide variant not provided [RCV001354921] Chr4:154608632 [GRCh38]
Chr4:155529784 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.1086G>A (p.Met362Ile) single nucleotide variant not provided [RCV001509238] Chr4:154606748 [GRCh38]
Chr4:155527900 [GRCh37]
Chr4:4q32.1
pathogenic|likely pathogenic
NM_021870.3(FGG):c.535T>G (p.Cys179Gly) single nucleotide variant not provided [RCV001509239] Chr4:154609761 [GRCh38]
Chr4:155530913 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.1202G>A (p.Arg401Gln) single nucleotide variant Congenital afibrinogenemia [RCV001420439] Chr4:154604994 [GRCh38]
Chr4:155526146 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.700T>C (p.Trp234Arg) single nucleotide variant Congenital afibrinogenemia [RCV001420440] Chr4:154608617 [GRCh38]
Chr4:155529769 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.694A>G (p.Lys232Glu) single nucleotide variant Congenital afibrinogenemia [RCV001420441] Chr4:154608623 [GRCh38]
Chr4:155529775 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.606G>C (p.Gln202His) single nucleotide variant Congenital afibrinogenemia [RCV001420442] Chr4:154609690 [GRCh38]
Chr4:155530842 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.207_208dup (p.Glu70fs) duplication Familial dysfibrinogenemia [RCV001730003] Chr4:154612116..154612117 [GRCh38]
Chr4:155533268..155533269 [GRCh37]
Chr4:4q32.1
pathogenic
NM_021870.3(FGG):c.554del (p.Lys185fs) deletion not provided [RCV001783276] Chr4:154609742 [GRCh38]
Chr4:155530894 [GRCh37]
Chr4:4q32.1
pathogenic
NM_021870.3(FGG):c.1190C>T (p.Thr397Ile) single nucleotide variant Afibrinogenemia [RCV002245491]|See cases [RCV004584476] Chr4:154605006 [GRCh38]
Chr4:155526158 [GRCh37]
Chr4:4q32.1
likely pathogenic|uncertain significance
NM_021870.3(FGG):c.793C>T (p.Gln265Ter) single nucleotide variant Afibrinogenemia [RCV002245492] Chr4:154608524 [GRCh38]
Chr4:155529676 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.709T>C (p.Tyr237His) single nucleotide variant Familial dysfibrinogenemia [RCV002222129]|not provided [RCV004793741] Chr4:154608608 [GRCh38]
Chr4:155529760 [GRCh37]
Chr4:4q32.1
likely pathogenic|uncertain significance
NM_021870.3(FGG):c.1098C>T (p.His366=) single nucleotide variant not specified [RCV004783618] Chr4:154606736 [GRCh38]
Chr4:155527888 [GRCh37]
Chr4:4q32.1
likely benign
NM_021870.3(FGG):c.124-2A>G single nucleotide variant Familial dysfibrinogenemia [RCV004796978] Chr4:154612203 [GRCh38]
Chr4:155533355 [GRCh37]
Chr4:4q32.1
pathogenic
NM_021870.3(FGG):c.702G>T (p.Trp234Cys) single nucleotide variant Congenital afibrinogenemia [RCV004795844]|Familial dysfibrinogenemia [RCV004798993] Chr4:154608615 [GRCh38]
Chr4:155529767 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.1087A>G (p.Asn363Asp) single nucleotide variant not provided [RCV002281255] Chr4:154606747 [GRCh38]
Chr4:155527899 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.503C>T (p.Thr168Met) single nucleotide variant Hemorrhage [RCV002281008] Chr4:154610096 [GRCh38]
Chr4:155531248 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.1319C>T (p.Ala440Val) single nucleotide variant not provided [RCV002263364] Chr4:154604877 [GRCh38]
Chr4:155526029 [GRCh37]
Chr4:4q32.1
likely benign
NM_021870.3(FGG):c.1172A>T (p.Asn391Ile) single nucleotide variant not provided [RCV003480138] Chr4:154605024 [GRCh38]
Chr4:155526176 [GRCh37]
Chr4:4q32.1
likely pathogenic
NM_021870.3(FGG):c.652A>G (p.Thr218Ala) single nucleotide variant Inborn genetic diseases [RCV002778553] Chr4:154609644 [GRCh38]
Chr4:155530796 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.1130-13C>T single nucleotide variant not provided [RCV002771118] Chr4:154605079 [GRCh38]
Chr4:155526231 [GRCh37]
Chr4:4q32.1
benign
NM_021870.3(FGG):c.248T>G (p.Val83Gly) single nucleotide variant Inborn genetic diseases [RCV002728894] Chr4:154612077 [GRCh38]
Chr4:155533229 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.1033A>C (p.Asn345His) single nucleotide variant not provided [RCV002885025] Chr4:154606801 [GRCh38]
Chr4:155527953 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.1129+64T>C single nucleotide variant not provided [RCV003084902] Chr4:154606641 [GRCh38]
Chr4:155527793 [GRCh37]
Chr4:4q32.1
benign
NM_021870.3(FGG):c.826C>T (p.Leu276=) single nucleotide variant not provided [RCV002595170] Chr4:154608491 [GRCh38]
Chr4:155529643 [GRCh37]
Chr4:4q32.1
likely benign
NM_021870.3(FGG):c.666+17C>T single nucleotide variant not provided [RCV002625550] Chr4:154609613 [GRCh38]
Chr4:155530765 [GRCh37]
Chr4:4q32.1
likely benign
NM_021870.3(FGG):c.401+15T>C single nucleotide variant not provided [RCV002800745] Chr4:154611790 [GRCh38]
Chr4:155532942 [GRCh37]
Chr4:4q32.1
likely benign
NM_021870.3(FGG):c.22C>T (p.Arg8Trp) single nucleotide variant Inborn genetic diseases [RCV002983561] Chr4:154612588 [GRCh38]
Chr4:155533740 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.18C>A (p.His6Gln) single nucleotide variant not provided [RCV002700585] Chr4:154612592 [GRCh38]
Chr4:155533744 [GRCh37]
Chr4:4q32.1
uncertain significance
GRCh37/hg19 4q31.3-32.1(chr4:154928902-155707223)x3 copy number gain not provided [RCV002508994] Chr4:154928902..155707223 [GRCh37]
Chr4:4q31.3-32.1
not provided
NM_021870.3(FGG):c.1129+66_1129+69del microsatellite FGG-related disorder [RCV004754938]|not provided [RCV002651854] Chr4:154606636..154606639 [GRCh38]
Chr4:155527788..155527791 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.*480G>T single nucleotide variant not provided [RCV003059969] Chr4:154604354 [GRCh38]
Chr4:155525506 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.1199C>G (p.Thr400Ser) single nucleotide variant Inborn genetic diseases [RCV002879331] Chr4:154604997 [GRCh38]
Chr4:155526149 [GRCh37]
Chr4:4q32.1
likely benign
NM_021870.3(FGG):c.334T>C (p.Ser112Pro) single nucleotide variant not provided [RCV002835016] Chr4:154611872 [GRCh38]
Chr4:155533024 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.633T>G (p.Asp211Glu) single nucleotide variant Inborn genetic diseases [RCV002921283] Chr4:154609663 [GRCh38]
Chr4:155530815 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.1147G>C (p.Ala383Pro) single nucleotide variant Inborn genetic diseases [RCV002669039] Chr4:154605049 [GRCh38]
Chr4:155526201 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.666+20G>T single nucleotide variant not provided [RCV002815083] Chr4:154609610 [GRCh38]
Chr4:155530762 [GRCh37]
Chr4:4q32.1
likely benign
NM_021870.3(FGG):c.124-18T>C single nucleotide variant not provided [RCV002583066] Chr4:154612219 [GRCh38]
Chr4:155533371 [GRCh37]
Chr4:4q32.1
likely benign
NM_021870.3(FGG):c.1024G>A (p.Asp342Asn) single nucleotide variant not provided [RCV004791153] Chr4:154606810 [GRCh38]
Chr4:155527962 [GRCh37]
Chr4:4q32.1
pathogenic
NM_021870.3(FGG):c.997C>T (p.His333Tyr) single nucleotide variant not provided [RCV004791154] Chr4:154606837 [GRCh38]
Chr4:155527989 [GRCh37]
Chr4:4q32.1
pathogenic
NM_021870.3(FGG):c.1161T>G (p.Asn387Lys) single nucleotide variant not provided [RCV004792869] Chr4:154605035 [GRCh38]
Chr4:155526187 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.691A>G (p.Lys231Glu) single nucleotide variant not provided [RCV003218869] Chr4:154608626 [GRCh38]
Chr4:155529778 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.661C>A (p.Gln221Lys) single nucleotide variant not provided [RCV003147260] Chr4:154609635 [GRCh38]
Chr4:155530787 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.4A>C (p.Ser2Arg) single nucleotide variant Inborn genetic diseases [RCV003207476]|not provided [RCV003549013] Chr4:154612606 [GRCh38]
Chr4:155533758 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.1300G>T (p.Val434Phe) single nucleotide variant Congenital afibrinogenemia [RCV003338194] Chr4:154604896 [GRCh38]
Chr4:155526048 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.184G>A (p.Val62Ile) single nucleotide variant Inborn genetic diseases [RCV003379268] Chr4:154612141 [GRCh38]
Chr4:155533293 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.275T>C (p.Leu92Pro) single nucleotide variant Inborn genetic diseases [RCV003378196] Chr4:154612050 [GRCh38]
Chr4:155533202 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.785T>A (p.Ile262Lys) single nucleotide variant FGG-related disorder [RCV003408427] Chr4:154608532 [GRCh38]
Chr4:155529684 [GRCh37]
Chr4:4q32.1
uncertain significance
GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3 copy number gain not provided [RCV003484198] Chr4:117518683..168174703 [GRCh37]
Chr4:4q26-32.3
pathogenic
NM_021870.3(FGG):c.901C>A (p.Arg301Ser) single nucleotide variant not provided [RCV003480145] Chr4:154606933 [GRCh38]
Chr4:155528085 [GRCh37]
Chr4:4q32.1
pathogenic
NM_021870.3(FGG):c.1138T>A (p.Tyr380Asn) single nucleotide variant not provided [RCV003481740] Chr4:154605058 [GRCh38]
Chr4:155526210 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.866C>T (p.Ala289Val) single nucleotide variant not provided [RCV003439527] Chr4:154606968 [GRCh38]
Chr4:155528120 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.533-17C>T single nucleotide variant not provided [RCV003439528] Chr4:154609780 [GRCh38]
Chr4:155530932 [GRCh37]
Chr4:4q32.1
likely benign
NM_021870.3(FGG):c.1067A>G (p.Asp356Gly) single nucleotide variant Familial dysfibrinogenemia [RCV003444468] Chr4:154606767 [GRCh38]
Chr4:155527919 [GRCh37]
Chr4:4q32.1
likely pathogenic
NM_021870.3(FGG):c.1030G>C (p.Asp344His) single nucleotide variant Familial dysfibrinogenemia [RCV003447705] Chr4:154606804 [GRCh38]
Chr4:155527956 [GRCh37]
Chr4:4q32.1
likely pathogenic
NM_021870.3(FGG):c.6T>C (p.Ser2=) single nucleotide variant not provided [RCV003739628] Chr4:154612604 [GRCh38]
Chr4:155533756 [GRCh37]
Chr4:4q32.1
likely benign
NC_000004.11:g.(?_155525322)_(155533809_?)del deletion Familial dysfibrinogenemia [RCV003493337] Chr4:155525322..155533809 [GRCh37]
Chr4:4q31.3
pathogenic
NM_021870.3(FGG):c.1015A>G (p.Ser339Gly) single nucleotide variant not specified [RCV003489611] Chr4:154606819 [GRCh38]
Chr4:155527971 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.921C>T (p.Phe307=) single nucleotide variant not provided [RCV003548508] Chr4:154606913 [GRCh38]
Chr4:155528065 [GRCh37]
Chr4:4q32.1
benign
NM_021870.3(FGG):c.1273C>A (p.Gln425Lys) single nucleotide variant not provided [RCV003724242] Chr4:154604923 [GRCh38]
Chr4:155526075 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.33T>A (p.Ile11=) single nucleotide variant not provided [RCV003724387] Chr4:154612577 [GRCh38]
Chr4:155533729 [GRCh37]
Chr4:4q32.1
likely benign
NM_021870.3(FGG):c.653C>T (p.Thr218Ile) single nucleotide variant not provided [RCV003719648] Chr4:154609643 [GRCh38]
Chr4:155530795 [GRCh37]
Chr4:4q32.1
uncertain significance
GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3 copy number gain not specified [RCV003986533] Chr4:123399154..190957473 [GRCh37]
Chr4:4q27-35.2
pathogenic
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 copy number gain not specified [RCV003986496] Chr4:101203509..190957473 [GRCh37]
Chr4:4q24-35.2
pathogenic
NM_021870.3(FGG):c.260T>C (p.Ile87Thr) single nucleotide variant not provided [RCV003722152] Chr4:154612065 [GRCh38]
Chr4:155533217 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.572G>A (p.Gly191Glu) single nucleotide variant not provided [RCV003722504] Chr4:154609724 [GRCh38]
Chr4:155530876 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.1035T>C (p.Asn345=) single nucleotide variant not provided [RCV003737284] Chr4:154606799 [GRCh38]
Chr4:155527951 [GRCh37]
Chr4:4q32.1
likely benign
NM_021870.3(FGG):c.770A>C (p.Glu257Ala) single nucleotide variant not provided [RCV003737285] Chr4:154608547 [GRCh38]
Chr4:155529699 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.189C>G (p.Asp63Glu) single nucleotide variant not provided [RCV003737488] Chr4:154612136 [GRCh38]
Chr4:155533288 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.922G>A (p.Ala308Thr) single nucleotide variant not provided [RCV003556516]|not specified [RCV003988126] Chr4:154606912 [GRCh38]
Chr4:155528064 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.75A>T (p.Val25=) single nucleotide variant FGG-related disorder [RCV003979426] Chr4:154612535 [GRCh38]
Chr4:155533687 [GRCh37]
Chr4:4q32.1
likely benign
NM_021870.3(FGG):c.674A>T (p.Asp225Val) single nucleotide variant FGG-related disorder [RCV003978974] Chr4:154608643 [GRCh38]
Chr4:155529795 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.459G>A (p.Lys153=) single nucleotide variant FGG-related disorder [RCV003981712] Chr4:154610140 [GRCh38]
Chr4:155531292 [GRCh37]
Chr4:4q32.1
likely benign
NM_021870.3(FGG):c.720A>T (p.Gly240=) single nucleotide variant FGG-related disorder [RCV003981684] Chr4:154608597 [GRCh38]
Chr4:155529749 [GRCh37]
Chr4:4q32.1
likely benign
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2
pathogenic
NM_021870.3(FGG):c.212A>T (p.Asp71Val) single nucleotide variant Inborn genetic diseases [RCV004394162] Chr4:154612113 [GRCh38]
Chr4:155533265 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.583A>C (p.Ile195Leu) single nucleotide variant Inborn genetic diseases [RCV004394164] Chr4:154609713 [GRCh38]
Chr4:155530865 [GRCh37]
Chr4:4q32.1
uncertain significance
GRCh38/hg38 4q31.3-32.1(chr4:153986026-156952467) copy number loss not provided [RCV004555213] Chr4:153986026..156952467 [GRCh38]
Chr4:4q31.3-32.1
uncertain significance
NM_021870.3(FGG):c.895A>C (p.Lys299Gln) single nucleotide variant Inborn genetic diseases [RCV004623322] Chr4:154606939 [GRCh38]
Chr4:155528091 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.310A>G (p.Met104Val) single nucleotide variant Inborn genetic diseases [RCV004623323] Chr4:154611896 [GRCh38]
Chr4:155533048 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.1037A>G (p.Asp346Gly) single nucleotide variant Familial dysfibrinogenemia [RCV004586097] Chr4:154606797 [GRCh38]
Chr4:155527949 [GRCh37]
Chr4:4q32.1
likely pathogenic
NM_021870.3(FGG):c.1320G>A (p.Ala440=) single nucleotide variant not specified [RCV004689524] Chr4:154604876 [GRCh38]
Chr4:155526028 [GRCh37]
Chr4:4q32.1
likely benign
NM_021870.3(FGG):c.460G>C (p.Val154Leu) single nucleotide variant Inborn genetic diseases [RCV004623320] Chr4:154610139 [GRCh38]
Chr4:155531291 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.1242del (p.Phe415fs) deletion Congenital afibrinogenemia [RCV004674044] Chr4:154604954 [GRCh38]
Chr4:155526106 [GRCh37]
Chr4:4q32.1
likely pathogenic
NM_021870.3(FGG):c.667-1G>T single nucleotide variant not provided [RCV004819062] Chr4:154608651 [GRCh38]
Chr4:155529803 [GRCh37]
likely pathogenic
NM_021870.3(FGG):c.1015A>C (p.Ser339Arg) single nucleotide variant FGG-related disorder [RCV004730427]|not provided [RCV004791720] Chr4:154606819 [GRCh38]
Chr4:155527971 [GRCh37]
Chr4:4q32.1
likely pathogenic|uncertain significance
NM_021870.3(FGG):c.1006A>T (p.Met336Leu) single nucleotide variant Familial dysfibrinogenemia [RCV004771603] Chr4:154606828 [GRCh38]
Chr4:155527980 [GRCh37]
Chr4:4q32.1
likely pathogenic
NM_021870.3(FGG):c.1204T>A (p.Trp402Arg) single nucleotide variant FGG-related disorder [RCV004730830] Chr4:154604992 [GRCh38]
Chr4:155526144 [GRCh37]
Chr4:4q32.1
uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR29B1hsa-miR-29b-3pMirtarbaseexternal_infoELISA//Flow//Luciferase reporter assayFunctional MTI20570858
MIR29Chsa-miR-29c-3pMirtarbaseexternal_infoLuciferase reporter assayNon-Functional MTI20570858
MIR29Ahsa-miR-29a-3pMirtarbaseexternal_infoELISA//Flow//Luciferase reporter assayFunctional MTI20570858
MIR144hsa-miR-144-3pMirtarbaseexternal_infoELISA//Flow//Luciferase reporter assayFunctional MTI20570858
MIR29B2hsa-miR-29b-3pMirtarbaseexternal_infoELISA//Flow//Luciferase reporter assayFunctional MTI20570858

Predicted Target Of
Summary Value
Count of predictions:996
Count of miRNA genes:580
Interacting mature miRNAs:637
Transcripts:ENST00000336098, ENST00000393846, ENST00000404648, ENST00000405164, ENST00000407946, ENST00000443553, ENST00000464532, ENST00000465336, ENST00000465913, ENST00000473393, ENST00000484695, ENST00000492082
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597160214GWAS1256288_Hvenous thromboembolism, von Willebrand factor measurement QTL GWAS1256288 (human)2e-60venous thromboembolism, von Willebrand factor measurement4154604543154604544Human
597591740GWAS1648600_Hblood coagulation disease QTL GWAS1648600 (human)2e-16blood coagulation disease4154606284154606285Human
597162324GWAS1258398_Hvenous thromboembolism, tissue plasminogen activator measurement QTL GWAS1258398 (human)1e-59venous thromboembolism, factor VII measurement4154604543154604544Human
597042514GWAS1138588_Hvenous thromboembolism QTL GWAS1138588 (human)2e-59factor XI measurement, venous thromboembolismblood plasminogen activator inhibitor 1 level (CMO:0003034)4154604543154604544Human
596958001GWAS1077520_Hvenous thromboembolism, plasminogen activator inhibitor 1 measurement QTL GWAS1077520 (human)2e-59factor XI measurement, venous thromboembolismblood plasminogen activator inhibitor 1 level (CMO:0003034)4154604543154604544Human
597188349GWAS1284423_Hmitochondrial DNA measurement QTL GWAS1284423 (human)2e-08mitochondrial DNA measurement4154611883154611884Human
597205886GWAS1301960_Hglycine measurement QTL GWAS1301960 (human)2e-10glycine measurementblood amino acid measurement (CMO:0003730)4154611883154611884Human
597621273GWAS1678133_Hheart disease QTL GWAS1678133 (human)5e-45heart disease4154604543154604544Human
597590934GWAS1647794_HThromboembolism QTL GWAS1647794 (human)8e-22Thromboembolism4154604543154604544Human
597590772GWAS1647632_Hdeep vein thrombosis QTL GWAS1647632 (human)9e-16deep vein thrombosis4154604543154604544Human
597160924GWAS1256998_Hfactor VIII measurement, venous thromboembolism QTL GWAS1256998 (human)7e-60factor VIII measurement, venous thromboembolism4154604543154604544Human
597072349GWAS1168423_Hprothrombin time measurement QTL GWAS1168423 (human)2e-20prothrombin time measurementprothrombin time (CMO:0000211)4154606284154606285Human
597186836GWAS1282910_Hmitochondrial DNA measurement QTL GWAS1282910 (human)3e-14mitochondrial DNA measurement4154611883154611884Human
597602640GWAS1659500_Hdeep vein thrombosis QTL GWAS1659500 (human)3e-41deep vein thrombosis4154604543154604544Human
597020102GWAS1116176_Hfibrinogen measurement QTL GWAS1116176 (human)1e-87fibrinogen measurementblood fibrinogen level (CMO:0000209)4154611883154611884Human
597044495GWAS1140569_Hvenous thromboembolism QTL GWAS1140569 (human)1e-57venous thromboembolism4154604543154604544Human
597621479GWAS1678339_HThromboembolism QTL GWAS1678339 (human)2e-87Thromboembolism4154604543154604544Human
597264615GWAS1360689_Hfibrinogen measurement QTL GWAS1360689 (human)2e-28fibrinogen measurementblood fibrinogen level (CMO:0000209)4154611883154611884Human

Markers in Region
SHGC-59537  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,526,285 - 155,526,659UniSTSGRCh37
Build 364155,745,735 - 155,746,109RGDNCBI36
Celera4152,857,248 - 152,857,622RGD
Cytogenetic Map4q28UniSTS
HuRef4151,266,861 - 151,267,235UniSTS
GeneMap99-GB4 RH Map4636.0UniSTS
NCBI RH Map41584.6UniSTS
SHGC-59771  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,525,362 - 155,525,498UniSTSGRCh37
Build 364155,744,812 - 155,744,948RGDNCBI36
Celera4152,856,325 - 152,856,461RGD
Cytogenetic Map4q28UniSTS
HuRef4151,265,938 - 151,266,074UniSTS
GeneMap99-GB4 RH Map4632.82UniSTS
SGC35532  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,525,765 - 155,525,978UniSTSGRCh37
Build 364155,745,215 - 155,745,428RGDNCBI36
Celera4152,856,728 - 152,856,941RGD
Cytogenetic Map4q28UniSTS
HuRef4151,266,341 - 151,266,554UniSTS
GeneMap99-GB4 RH Map4634.17UniSTS
Whitehead-RH Map4685.9UniSTS
NCBI RH Map41613.3UniSTS
FGG  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,529,726 - 155,530,911UniSTSGRCh37
Celera4152,860,689 - 152,861,874UniSTS
HuRef4151,270,302 - 151,271,487UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
848 1804 1720 1612 3147 1483 1928 3 579 993 456 1322 4848 4296 16 2404 593 1375 1281 128

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA936960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB083708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC107385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF350254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI808530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL531173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW014527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG567044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX382942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX538098 (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
  HM005383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB978086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  K02569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M10014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U36503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X00086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X51473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000336098   ⟹   ENSP00000336829
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4154,604,171 - 154,612,656 (-)Ensembl
Ensembl Acc Id: ENST00000393846   ⟹   ENSP00000377429
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4154,609,630 - 154,612,797 (-)Ensembl
Ensembl Acc Id: ENST00000404648   ⟹   ENSP00000384860
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4154,604,134 - 154,612,849 (-)Ensembl
Ensembl Acc Id: ENST00000405164   ⟹   ENSP00000384101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4154,604,173 - 154,612,643 (-)Ensembl
Ensembl Acc Id: ENST00000407946   ⟹   ENSP00000384552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4154,604,610 - 154,612,635 (-)Ensembl
Ensembl Acc Id: ENST00000443553   ⟹   ENSP00000407562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4154,608,639 - 154,612,967 (-)Ensembl
Ensembl Acc Id: ENST00000464532
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4154,609,943 - 154,612,656 (-)Ensembl
Ensembl Acc Id: ENST00000465336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4154,611,839 - 154,612,656 (-)Ensembl
Ensembl Acc Id: ENST00000465913
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4154,604,171 - 154,609,843 (-)Ensembl
Ensembl Acc Id: ENST00000473393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4154,611,236 - 154,612,635 (-)Ensembl
Ensembl Acc Id: ENST00000484695
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4154,611,973 - 154,612,611 (-)Ensembl
Ensembl Acc Id: ENST00000492082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4154,604,165 - 154,612,659 (-)Ensembl
RefSeq Acc Id: NM_000509   ⟹   NP_000500
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384154,604,136 - 154,612,656 (-)NCBI
GRCh374155,525,286 - 155,533,902 (-)ENTREZGENE
Build 364155,744,736 - 155,753,352 (-)NCBI Archive
HuRef4151,265,862 - 151,274,478 (-)ENTREZGENE
CHM1_14155,503,216 - 155,511,890 (-)NCBI
T2T-CHM13v2.04157,935,943 - 157,944,463 (-)NCBI
Sequence:
RefSeq Acc Id: NM_021870   ⟹   NP_068656
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384154,604,171 - 154,612,656 (-)NCBI
GRCh374155,525,286 - 155,533,902 (-)ENTREZGENE
Build 364155,745,178 - 155,753,352 (-)NCBI Archive
HuRef4151,265,862 - 151,274,478 (-)ENTREZGENE
CHM1_14155,503,658 - 155,511,832 (-)NCBI
T2T-CHM13v2.04157,935,978 - 157,944,463 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000500 (Get FASTA)   NCBI Sequence Viewer  
  NP_068656 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA52430 (Get FASTA)   NCBI Sequence Viewer  
  AAA52431 (Get FASTA)   NCBI Sequence Viewer  
  AAB59530 (Get FASTA)   NCBI Sequence Viewer  
  AAB59531 (Get FASTA)   NCBI Sequence Viewer  
  AAH07044 (Get FASTA)   NCBI Sequence Viewer  
  AAH21674 (Get FASTA)   NCBI Sequence Viewer  
  AAK19751 (Get FASTA)   NCBI Sequence Viewer  
  AAK19752 (Get FASTA)   NCBI Sequence Viewer  
  AAP35744 (Get FASTA)   NCBI Sequence Viewer  
  AEE60983 (Get FASTA)   NCBI Sequence Viewer  
  BAF82111 (Get FASTA)   NCBI Sequence Viewer  
  BAF83513 (Get FASTA)   NCBI Sequence Viewer  
  CAA24944 (Get FASTA)   NCBI Sequence Viewer  
  CAA35837 (Get FASTA)   NCBI Sequence Viewer  
  CAD98014 (Get FASTA)   NCBI Sequence Viewer  
  CDL78904 (Get FASTA)   NCBI Sequence Viewer  
  EAX04905 (Get FASTA)   NCBI Sequence Viewer  
  EAX04906 (Get FASTA)   NCBI Sequence Viewer  
  EAX04907 (Get FASTA)   NCBI Sequence Viewer  
  EAX04908 (Get FASTA)   NCBI Sequence Viewer  
  EAX04909 (Get FASTA)   NCBI Sequence Viewer  
  EAX04910 (Get FASTA)   NCBI Sequence Viewer  
  EAX04911 (Get FASTA)   NCBI Sequence Viewer  
  EAX04912 (Get FASTA)   NCBI Sequence Viewer  
  EAX04913 (Get FASTA)   NCBI Sequence Viewer  
  EAX04914 (Get FASTA)   NCBI Sequence Viewer  
  EAX04915 (Get FASTA)   NCBI Sequence Viewer  
  EAX04916 (Get FASTA)   NCBI Sequence Viewer  
  EAX04917 (Get FASTA)   NCBI Sequence Viewer  
  EAX04918 (Get FASTA)   NCBI Sequence Viewer  
  EAX04919 (Get FASTA)   NCBI Sequence Viewer  
  EAX04920 (Get FASTA)   NCBI Sequence Viewer  
  EAX04921 (Get FASTA)   NCBI Sequence Viewer  
  EAX04922 (Get FASTA)   NCBI Sequence Viewer  
  EAX04923 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000336829
  ENSP00000336829.3
  ENSP00000377429.2
  ENSP00000384101.1
  ENSP00000384552.1
  ENSP00000384860
  ENSP00000384860.3
  ENSP00000407562.1
GenBank Protein P02679 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000500   ⟸   NM_000509
- Peptide Label: isoform gamma-A precursor
- UniProtKB: A0A140VJJ6 (UniProtKB/TrEMBL),   C9JEU5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_068656   ⟸   NM_021870
- Peptide Label: isoform gamma-B precursor
- UniProtKB: Q9UC63 (UniProtKB/Swiss-Prot),   Q9UC62 (UniProtKB/Swiss-Prot),   Q96KJ3 (UniProtKB/Swiss-Prot),   Q96A14 (UniProtKB/Swiss-Prot),   Q53Y18 (UniProtKB/Swiss-Prot),   P04470 (UniProtKB/Swiss-Prot),   P04469 (UniProtKB/Swiss-Prot),   A8K057 (UniProtKB/Swiss-Prot),   Q9UCF3 (UniProtKB/Swiss-Prot),   P02679 (UniProtKB/Swiss-Prot),   C9JC84 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000336829   ⟸   ENST00000336098
Ensembl Acc Id: ENSP00000407562   ⟸   ENST00000443553
Ensembl Acc Id: ENSP00000384860   ⟸   ENST00000404648
Ensembl Acc Id: ENSP00000384101   ⟸   ENST00000405164
Ensembl Acc Id: ENSP00000377429   ⟸   ENST00000393846
Ensembl Acc Id: ENSP00000384552   ⟸   ENST00000407946
Protein Domains
Fibrinogen C-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P02679-F1-model_v2 AlphaFold P02679 1-453 view protein structure

Promoters
RGD ID:6868710
Promoter ID:EPDNEW_H7520
Type:initiation region
Name:FGG_1
Description:fibrinogen gamma chain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7522  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384154,612,656 - 154,612,716EPDNEW
RGD ID:6802320
Promoter ID:HG_KWN:49323
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:UC003IOI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 364155,751,101 - 155,751,601 (-)MPROMDB
RGD ID:6802324
Promoter ID:HG_KWN:49324
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000351322,   ENST00000393846,   ENST00000404648,   NM_021870,   OTTHUMT00000317583,   OTTHUMT00000317584,   OTTHUMT00000317587,   OTTHUMT00000317588,   OTTHUMT00000317589,   OTTHUMT00000317590,   OTTHUMT00000317591,   UC003IOH.1,   UC003IOK.1,   UC010IPX.1,   UC010IPY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 364155,752,951 - 155,753,451 (-)MPROMDB
RGD ID:6849548
Promoter ID:EP11087
Type:single initiation site
Name:HS_FGG
Description:gamma-fibrinogen.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 23; Rodent gamma-fibrinogen
Experiment Methods:Primer extension; Nuclease protection with homologous sequence ladder; experiments; performed with closely related gene
Regulation:liver; (induced by or strongly expressed in) glucocorticoid
Position:
Human AssemblyChrPosition (strand)Source
Build 364155,753,258 - 155,753,318EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3694 AgrOrtholog
COSMIC FGG COSMIC
Ensembl Genes ENSG00000171557 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000336098 ENTREZGENE
  ENST00000336098.8 UniProtKB/Swiss-Prot
  ENST00000393846.6 UniProtKB/TrEMBL
  ENST00000404648 ENTREZGENE
  ENST00000404648.7 UniProtKB/Swiss-Prot
  ENST00000405164.5 UniProtKB/TrEMBL
  ENST00000407946.5 UniProtKB/TrEMBL
  ENST00000443553.5 UniProtKB/TrEMBL
Gene3D-CATH 1.20.5.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.215.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Gamma-fibrinogen Carboxyl Terminal Fragment, domain 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000171557 GTEx
HGNC ID HGNC:3694 ENTREZGENE
Human Proteome Map FGG Human Proteome Map
InterPro Fibrinogen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  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_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2266 UniProtKB/Swiss-Prot
NCBI Gene 2266 ENTREZGENE
OMIM 134850 OMIM
PANTHER FIBRINOGEN ALPHA CHAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FIBRINOGEN GAMMA CHAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Fib_alpha UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fibrinogen_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA430 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 Fibrinogen coiled-coil and central regions UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56496 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A140VJJ6 ENTREZGENE, UniProtKB/TrEMBL
  A8K057 ENTREZGENE
  C9JC84 ENTREZGENE, UniProtKB/TrEMBL
  C9JEU5 ENTREZGENE, UniProtKB/TrEMBL
  C9JPQ9_HUMAN UniProtKB/TrEMBL
  C9JU00_HUMAN UniProtKB/TrEMBL
  FIBG_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  P04469 ENTREZGENE
  P04470 ENTREZGENE
  Q53Y18 ENTREZGENE
  Q96A14 ENTREZGENE
  Q96KJ3 ENTREZGENE
  Q9UC62 ENTREZGENE
  Q9UC63 ENTREZGENE
  Q9UCF3 ENTREZGENE
UniProt Secondary A8K057 UniProtKB/Swiss-Prot
  P04469 UniProtKB/Swiss-Prot
  P04470 UniProtKB/Swiss-Prot
  Q53Y18 UniProtKB/Swiss-Prot
  Q96A14 UniProtKB/Swiss-Prot
  Q96KJ3 UniProtKB/Swiss-Prot
  Q9UC62 UniProtKB/Swiss-Prot
  Q9UC63 UniProtKB/Swiss-Prot
  Q9UCF3 UniProtKB/Swiss-Prot