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
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 congenital afibrinogenemia and multiple myeloma. Biomarker of type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Also 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 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 Ensembl4154,604,134 - 154,612,967 (-)EnsemblGRCh38hg38GRCh38
GRCh384154,604,136 - 154,612,656 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh374155,525,288 - 155,533,808 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364155,744,736 - 155,753,352 (-)NCBINCBI36hg18NCBI36
Build 344155,883,339 - 155,891,408NCBI
Celera4152,856,249 - 152,864,865 (-)NCBI
Cytogenetic Map4q32.1NCBI
HuRef4151,265,862 - 151,274,478 (-)NCBIHuRef
CHM1_14155,503,216 - 155,511,832 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (EXP)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,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)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
Azaspiracid  (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)
bromobenzene  (ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
carbon nanotube  (ISO)
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)
dabigatran  (ISO)
dibenz[a,h]anthracene  (EXP)
diclofenac  (ISO)
dicrotophos  (EXP)
dienogest  (EXP)
diethyl maleate  (ISO)
diisopropyl fluorophosphate  (ISO)
dimethyl sulfoxide  (ISO)
dioxygen  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
elemental selenium  (ISO)
endosulfan  (ISO)
fenofibrate  (ISO)
furan  (ISO)
gemcitabine  (EXP)
gestodene  (EXP)
graphene oxide  (ISO)
hyaluronic acid  (ISO)
hydrogen peroxide  (EXP,ISO)
lead diacetate  (ISO)
levonorgestrel  (EXP)
menadione  (EXP)
methylmercury chloride  (EXP)
N-nitrosodiethylamine  (ISO)
Natamycin  (ISO)
nefazodone  (ISO)
nitrofen  (ISO)
norethisterone  (EXP)
norgestimate  (EXP)
nystatin  (ISO)
paracetamol  (EXP,ISO)
pentanal  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (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)
vinclozolin  (ISO)
vitamin E  (ISO)
vitamin K  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
1. Asselta R, etal., J Thromb Haemost. 2015 Aug;13(8):1459-67. doi: 10.1111/jth.13021. Epub 2015 Jul 14.
2. Asselta R, etal., Thromb Res. 2015 Jul;136(1):168-74. doi: 10.1016/j.thromres.2015.05.007. Epub 2015 May 14.
3. Brennan SO, etal., Hepatology. 2002 Sep;36(3):652-8.
4. Cai Y, etal., Chin J Dig Dis. 2006;7(4):237-45.
5. Carty CL, etal., Thromb Haemost. 2008 Feb;99(2):388-95.
6. Chen X, etal., J Proteome Res. 2010 Feb 5;9(2):885-96.
7. 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. Cumova J, etal., Klin Onkol. 2012;25(1):17-25.
9. GOA_HUMAN data from the GO Consortium
10. Gralinski LE, etal., mBio. 2013 Aug 6;4(4). pii: mBio.00271-13. doi: 10.1128/mBio.00271-13.
11. Huang D, etal., Pathology. 2015 Feb;47(2):145-50. doi: 10.1097/PAT.0000000000000213.
12. Knobl P, etal., Thromb Haemost. 1994 Jun;71(6):692-7.
13. Krishnamoorthy A, etal., Blood. 2011 Aug 18;118(7):1934-42. Epub 2011 Jun 17.
14. Liao Z, etal., Clin Chim Acta. 2014 Jan 20;428:106-9.
15. Longstaff C and Kolev K, J Thromb Haemost. 2015 Jun;13 Suppl 1:S98-105. doi: 10.1111/jth.12935.
16. Margaglione M, etal., Blood 2000 Oct 1;96(7):2501-5.
17. Meyer M, etal., Blood Coagul Fibrinolysis. 2006 Jan;17(1):63-7.
18. Mosesson MW J Thromb Haemost. 2005 Aug;3(8):1894-904.
19. Mosesson MW, etal., J Thromb Haemost. 2007 Jan;5(1):62-9. Epub 2006 Oct 13.
20. Neerman-Arbez M, etal., Blood. 2004 Dec 1;104(12):3618-23. Epub 2004 Jul 29.
21. OMIM Disease Annotation Pipeline
22. Pipeline to import KEGG annotations from KEGG into RGD
23. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
24. Pipeline to import SMPDB annotations from SMPDB into RGD
25. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
26. RGD automated import pipeline for gene-chemical interactions
27. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
28. Sevaljevic L, etal., Biol Signals Recept. 2001 Sep-Oct;10(5):299-309.
29. Song KS, etal., Clin Appl Thromb Hemost. 2006 Jul;12(3):338-43.
30. Sumitha E, etal., Haemophilia. 2013 Jul;19(4):611-8. doi: 10.1111/hae.12143. Epub 2013 Apr 8.
31. Tsai JJ, etal., Proteomics. 2015 Nov;15(22):3865-74. doi: 10.1002/pmic.201500128.
32. van Oijen M, etal., J Neurol Neurosurg Psychiatry. 2008 Jul;79(7):799-803. Epub 2007 Oct 19.
33. Watts JA, etal., Thromb Res. 2011 Oct 17.
34. Zhu L, etal., Blood Coagul Fibrinolysis. 2013 Sep;24(6):642-4. doi: 10.1097/MBC.0b013e32835facdc.
35. 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:34069309  


Genomics

Comparative Map Data
FGG
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl4154,604,134 - 154,612,967 (-)EnsemblGRCh38hg38GRCh38
GRCh384154,604,136 - 154,612,656 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh374155,525,288 - 155,533,808 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364155,744,736 - 155,753,352 (-)NCBINCBI36hg18NCBI36
Build 344155,883,339 - 155,891,408NCBI
Celera4152,856,249 - 152,864,865 (-)NCBI
Cytogenetic Map4q32.1NCBI
HuRef4151,265,862 - 151,274,478 (-)NCBIHuRef
CHM1_14155,503,216 - 155,511,832 (-)NCBICHM1_1
Fgg
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39382,915,031 - 82,922,363 (+)NCBIGRCm39mm39
GRCm39 Ensembl382,915,031 - 82,922,356 (+)Ensembl
GRCm38383,007,724 - 83,015,056 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl383,007,724 - 83,015,049 (+)EnsemblGRCm38mm10GRCm38
MGSCv37382,811,818 - 82,818,971 (+)NCBIGRCm37mm9NCBIm37
MGSCv36383,093,823 - 83,100,976 (+)NCBImm8
Celera383,011,995 - 83,019,099 (+)NCBICelera
Cytogenetic Map3E3NCBI
cM Map336.94NCBI
Fgg
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22168,354,880 - 168,362,325 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl2168,355,013 - 168,362,322 (+)Ensembl
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 (+)NCBIRGSC3.4rn4RGSC3.4
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
PanPan1.14158,788,761 - 158,797,460 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4158,788,966 - 158,797,237 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v04146,970,671 - 146,979,348 (-)NCBIMhudiblu_PPA_v0panPan3
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 (-)NCBI
ROS_Cfam_1.01552,948,278 - 52,957,065 (-)NCBI
UMICH_Zoey_3.11552,203,172 - 52,211,960 (-)NCBI
UNSW_CanFamBas_1.01552,307,741 - 52,316,537 (-)NCBI
UU_Cfam_GSD_1.01552,622,568 - 52,631,351 (-)NCBI
Fgg
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530138,194,766 - 38,203,257 (+)NCBI
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 - 74,686,118 (+)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 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl7101,148,058 - 101,157,111 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603780,803,057 - 80,811,786 (-)NCBIVero_WHO_p1.0
Fgg
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248585,828,334 - 5,836,382 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
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

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.


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 395 395 2 395 3 1 8
Medium 105 52 162 50 47 51 18 5 6 49 22 354 11 8 1
Low 738 786 479 58 464 9 804 433 613 106 747 528 50 274 525 1
Below cutoff 961 1345 447 76 480 1 1823 1002 1785 120 359 390 78 563 1187 1

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
  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

Reference Sequences
RefSeq Acc Id: ENST00000336098   ⟹   ENSP00000336829
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4154,604,171 - 154,612,656 (-)Ensembl
RefSeq Acc Id: ENST00000393846   ⟹   ENSP00000377429
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4154,609,630 - 154,612,797 (-)Ensembl
RefSeq Acc Id: ENST00000404648   ⟹   ENSP00000384860
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4154,604,134 - 154,612,849 (-)Ensembl
RefSeq Acc Id: ENST00000405164   ⟹   ENSP00000384101
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4154,604,173 - 154,612,643 (-)Ensembl
RefSeq Acc Id: ENST00000407946   ⟹   ENSP00000384552
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4154,604,610 - 154,612,635 (-)Ensembl
RefSeq Acc Id: ENST00000443553   ⟹   ENSP00000407562
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4154,608,639 - 154,612,967 (-)Ensembl
RefSeq Acc Id: ENST00000464532
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4154,609,943 - 154,612,656 (-)Ensembl
RefSeq Acc Id: ENST00000465336
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4154,611,839 - 154,612,656 (-)Ensembl
RefSeq Acc Id: ENST00000465913
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4154,604,171 - 154,609,843 (-)Ensembl
RefSeq Acc Id: ENST00000473393
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4154,611,236 - 154,612,635 (-)Ensembl
RefSeq Acc Id: ENST00000484695
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4154,611,973 - 154,612,611 (-)Ensembl
RefSeq Acc Id: ENST00000492082
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 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
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
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  
  P02679 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000500   ⟸   NM_000509
- Peptide Label: isoform gamma-A precursor
- UniProtKB: P02679 (UniProtKB/Swiss-Prot),   A0A140VJJ6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_068656   ⟸   NM_021870
- Peptide Label: isoform gamma-B precursor
- UniProtKB: P02679 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000336829   ⟸   ENST00000336098
RefSeq Acc Id: ENSP00000407562   ⟸   ENST00000443553
RefSeq Acc Id: ENSP00000384860   ⟸   ENST00000404648
RefSeq Acc Id: ENSP00000384101   ⟸   ENST00000405164
RefSeq Acc Id: ENSP00000377429   ⟸   ENST00000393846
RefSeq Acc Id: ENSP00000384552   ⟸   ENST00000407946
Protein Domains
Fibrinogen C-terminal

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

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
FIBRINOGEN KYOTO 1 variation FIBRINOGEN KYOTO 1 [RCV000017784] Chr4:4q28 other
FIBRINOGEN VLISSINGEN 1 deletion FIBRINOGEN VLISSINGEN 1 [RCV000017787] Chr4:4q28 likely pathogenic|other
FIBRINOGEN PARIS 1 insertion FIBRINOGEN PARIS 1 [RCV000017793] Chr4:4q28 other
FIBRINOGEN OSLO 3 variation FIBRINOGEN OSLO III [RCV000017794] Chr4:4q28 other
NM_021870.3(FGG):c.78+5G>A single nucleotide variant Afibrinogenemia, congenital [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 Afibrinogenemia, congenital [RCV000017799] Chr4:154612013 [GRCh38]
Chr4:155533165 [GRCh37]
Chr4:4q32.1
pathogenic
NM_021870.3(FGG):c.667-320A>T single nucleotide variant Afibrinogenemia, congenital [RCV000017802] Chr4:154608970 [GRCh38]
Chr4:155530122 [GRCh37]
Chr4:4q32.1
pathogenic
NM_021870.2(FGG):c.901C>T (p.Arg301Cys) single nucleotide variant FIBRINOGEN TOKYO 2 [RCV000017772]|Hypofibrinogenemia [RCV000851951] Chr4:154606933 [GRCh38]
Chr4:155528085 [GRCh37]
Chr4:4q32.1
pathogenic|other
NM_021870.2(FGG):c.902G>A (p.Arg301His) single nucleotide variant FIBRINOGEN HAIFA 1 [RCV000017777]|Hypofibrinogenemia [RCV000851952] Chr4:154606932 [GRCh38]
Chr4:155528084 [GRCh37]
Chr4:4q32.1
pathogenic|other
NM_021870.2(FGG):c.953G>T (p.Gly318Val) single nucleotide variant FIBRINOGEN BALTIMORE 1 [RCV000017783] Chr4:154606881 [GRCh38]
Chr4:155528033 [GRCh37]
Chr4:4q32.1
other
NM_021870.2(FGG):c.1001A>T (p.Asn334Ile) single nucleotide variant FIBRINOGEN BALTIMORE 3 [RCV000017785] Chr4:154606833 [GRCh38]
Chr4:155527985 [GRCh37]
Chr4:4q32.1
other
NM_021870.2(FGG):c.1007T>C (p.Met336Thr) single nucleotide variant FIBRINOGEN ASAHI [RCV000017786] Chr4:154606827 [GRCh38]
Chr4:155527979 [GRCh37]
Chr4:4q32.1
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 Afibrinogenemia, congenital [RCV001144043]|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|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_021870.2(FGG):c.966C>T (p.Gly322=) single nucleotide variant Malignant melanoma [RCV000066308] Chr4:154606868 [GRCh38]
Chr4:155528020 [GRCh37]
Chr4:155747470 [NCBI36]
Chr4:4q32.1
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]|Afibrinogenemia, congenital [RCV000660564]|Congenital fibrinogen deficiency [RCV001559328]|not provided [RCV000899510]|not specified [RCV001449762] Chr4:154611883 [GRCh38]
Chr4:155533035 [GRCh37]
Chr4:4q32.1
pathogenic|likely pathogenic|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 Afibrinogenemia, congenital [RCV000259529] 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 Afibrinogenemia, congenital [RCV000286364] Chr4:154612739 [GRCh38]
Chr4:155533891 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.502A>G (p.Thr168Ala) single nucleotide variant Afibrinogenemia, congenital [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 Afibrinogenemia, congenital [RCV000289840] 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 Afibrinogenemia, congenital [RCV000384338] Chr4:154611897 [GRCh38]
Chr4:155533049 [GRCh37]
Chr4:4q32.1
benign|uncertain significance
NM_021870.3(FGG):c.19C>T (p.Pro7Ser) single nucleotide variant Afibrinogenemia, congenital [RCV000326075] Chr4:154612591 [GRCh38]
Chr4:155533743 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.418T>C (p.Tyr140His) single nucleotide variant Afibrinogenemia, congenital [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 Afibrinogenemia, congenital [RCV000369894] Chr4:154604346 [GRCh38]
Chr4:155525498 [GRCh37]
Chr4:4q32.1
likely benign|uncertain significance
NM_000509.5(FGG):c.-53A>G single nucleotide variant Afibrinogenemia, congenital [RCV000380795] Chr4:154612662 [GRCh38]
Chr4:155533814 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.1237A>G (p.Ile413Val) single nucleotide variant Afibrinogenemia, congenital [RCV000333369] Chr4:154604959 [GRCh38]
Chr4:155526111 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_002739.5(PRKCG):c.285C>T (p.Asp95=) single nucleotide variant Afibrinogenemia, congenital [RCV000361528]|not provided [RCV001643130] Chr4:154604124 [GRCh38]
Chr4:155525276 [GRCh37]
Chr4:4q32.1
benign
NM_021870.3(FGG):c.667-10G>C single nucleotide variant Afibrinogenemia, congenital [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.1022G>A (p.Trp341Ter) single nucleotide variant Afibrinogenemia, congenital [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 Afibrinogenemia, congenital [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 Afibrinogenemia, congenital [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]|Afibrinogenemia, congenital [RCV001145945] Chr4:154612185 [GRCh38]
Chr4:155533337 [GRCh37]
Chr4:4q32.1
likely pathogenic|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 Afibrinogenemia, congenital [RCV001148603] Chr4:154604338 [GRCh38]
Chr4:155525490 [GRCh37]
Chr4:4q32.1
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 Afibrinogenemia, congenital [RCV001150186] Chr4:154604938 [GRCh38]
Chr4:155526090 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.620A>G (p.Tyr207Cys) single nucleotide variant Afibrinogenemia, congenital [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 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] 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 Hypofibrinogenemia [RCV000851656] Chr4:154606735 [GRCh38]
Chr4:155527887 [GRCh37]
Chr4:4q32.1
likely pathogenic
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 Afibrinogenemia, congenital [RCV001144041] Chr4:154608634 [GRCh38]
Chr4:155529786 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.*535A>G single nucleotide variant Afibrinogenemia, congenital [RCV001148601] Chr4:154604299 [GRCh38]
Chr4:155525451 [GRCh37]
Chr4:4q32.1
likely benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) 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 Afibrinogenemia, congenital [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
null single nucleotide variant not provided [RCV001620561] Chr4:154609806 [GRCh38]
Chr4:155530958 [GRCh37]
Chr4:4q32.1
benign
null single nucleotide variant not provided [RCV001621530] Chr4:154606284 [GRCh38]
Chr4:155527436 [GRCh37]
Chr4:4q32.1
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001684444] Chr4:154604543 [GRCh38]
Chr4:155525695 [GRCh37]
Chr4:4q32.1
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) 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 Afibrinogenemia, congenital [RCV001148604] Chr4:154604340 [GRCh38]
Chr4:155525492 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.318C>T (p.Asp106=) single nucleotide variant Afibrinogenemia, congenital [RCV001145944] Chr4:154611888 [GRCh38]
Chr4:155533040 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.124G>A (p.Gly42Ser) single nucleotide variant Afibrinogenemia, congenital [RCV001145946]|not provided [RCV001171744] Chr4:154612201 [GRCh38]
Chr4:155533353 [GRCh37]
Chr4:4q32.1
likely benign|uncertain significance
NM_021870.3(FGG):c.1125C>T (p.Tyr375=) single nucleotide variant Afibrinogenemia, congenital [RCV001150187] Chr4:154606709 [GRCh38]
Chr4:155527861 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.*500C>T single nucleotide variant Afibrinogenemia, congenital [RCV001148602] 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
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
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 Afibrinogenemia, congenital [RCV001420439] Chr4:154604994 [GRCh38]
Chr4:155526146 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.700T>C (p.Trp234Arg) single nucleotide variant Afibrinogenemia, congenital [RCV001420440] Chr4:154608617 [GRCh38]
Chr4:155529769 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.694A>G (p.Lys232Glu) single nucleotide variant Afibrinogenemia, congenital [RCV001420441] Chr4:154608623 [GRCh38]
Chr4:155529775 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_021870.3(FGG):c.606G>C (p.Gln202His) single nucleotide variant Afibrinogenemia, congenital [RCV001420442] Chr4:154609690 [GRCh38]
Chr4:155530842 [GRCh37]
Chr4:4q32.1
uncertain significance

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 Protein ENSP00000336829 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000377429 UniProtKB/TrEMBL
  ENSP00000384101 UniProtKB/TrEMBL
  ENSP00000384552 UniProtKB/TrEMBL
  ENSP00000384860 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000407562 UniProtKB/TrEMBL
Ensembl Transcript ENST00000336098 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000393846 UniProtKB/TrEMBL
  ENST00000404648 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000405164 UniProtKB/TrEMBL
  ENST00000407946 UniProtKB/TrEMBL
  ENST00000443553 UniProtKB/TrEMBL
Gene3D-CATH 3.90.215.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4.10.530.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000171557 GTEx
HGNC ID HGNC:3694 ENTREZGENE
Human Proteome Map FGG Human Proteome Map
InterPro Fibrinogen-like_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fibrinogen_a/b/g_C_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fibrinogen_a/b/g_C_2 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
  Fibrinogen_gamma UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2266 UniProtKB/Swiss-Prot
NCBI Gene 2266 ENTREZGENE
OMIM 134850 OMIM
  202400 OMIM
  616004 OMIM
PANTHER PTHR19143:SF338 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 SSF56496 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A140VJJ6 ENTREZGENE, UniProtKB/TrEMBL
  C9JC84_HUMAN UniProtKB/TrEMBL
  C9JEU5_HUMAN UniProtKB/TrEMBL
  C9JPQ9_HUMAN UniProtKB/TrEMBL
  C9JU00_HUMAN UniProtKB/TrEMBL
  D3DP16_HUMAN UniProtKB/TrEMBL
  FIBG_HUMAN UniProtKB/Swiss-Prot, 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