AFP (alpha fetoprotein) - Rat Genome Database

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Gene: AFP (alpha fetoprotein) Homo sapiens
Analyze
Symbol: AFP
Name: alpha fetoprotein
RGD ID: 736278
HGNC Page HGNC:317
Description: Predicted to enable small molecule binding activity. Predicted to act upstream of or within several processes, including homeostasis of number of cells; ovulation from ovarian follicle; and progesterone metabolic process. Predicted to be located in endoplasmic reticulum lumen. Predicted to be active in cytoplasm. Implicated in hepatitis C. Biomarker of carcinoma (multiple); germ cell cancer (multiple); and reproductive organ cancer (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AFPD; alpha-1-fetoprotein; alpha-fetoglobulin; alpha-fetoprotein; FETA; HPAFP
RGD Orthologs
Mouse
Rat
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
GRCh38473,436,221 - 73,456,174 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl473,431,138 - 73,456,174 (+)EnsemblGRCh38hg38GRCh38
GRCh37474,301,938 - 74,321,891 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36474,520,797 - 74,540,356 (+)NCBINCBI36Build 36hg18NCBI36
Build 34474,666,967 - 74,686,527NCBI
Celera471,661,745 - 71,681,240 (+)NCBICelera
Cytogenetic Map4q13.3ENTREZGENE
HuRef470,113,467 - 70,132,962 (+)NCBIHuRef
CHM1_1474,338,122 - 74,357,615 (+)NCBICHM1_1
T2T-CHM13v2.0476,779,943 - 76,799,830 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(+)-taxifolin  (ISO)
(S)-naringenin  (ISO)
1,1-dichloroethene  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
1H-1,2,4-triazole  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,2'-Dihydroxy-4-methoxybenzophenone  (ISO)
2,3,4,5-Tetrachloro-4'-biphenylol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-tribromophenol  (EXP)
2,4-diaminotoluene  (ISO)
2,4-dinitrotoluene  (ISO)
2-acetamidofluorene  (ISO)
2-amino-2-deoxy-D-galactopyranose  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
2-nitropropane  (ISO)
2-sec-butylphenol  (ISO)
3'-hydroxyflavanone  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,5,6-trichloro-2-pyridinol  (ISO)
3,5,6-trichloropyridine-2-one  (ISO)
3,5-diethoxycarbonyl-1,4-dihydrocollidine  (ISO)
4'-hydroxychalcone  (ISO)
4'-hydroxyflavanone  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxychalcone  (ISO)
4-nonylphenol  (ISO)
4-octylphenol  (ISO)
5-azacytidine  (EXP)
5-fluorouracil  (ISO)
5-hydroxytryptophan  (ISO)
7-hydroxyflavanone  (ISO)
acetic acid  (ISO)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucosamine  (ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP,ISO)
all-trans-retinol  (ISO)
allyl alcohol  (ISO)
alogliptin  (ISO)
alpha-Zearalanol  (ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
apigenin  (ISO)
arotinoid acid  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (EXP,ISO)
Azaspiracid  (EXP)
azoxystrobin  (ISO)
baicalein  (ISO)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
Benzyl parahydroxybenzoate  (ISO)
benzylpenicillin  (EXP,ISO)
beta-D-glucosamine  (ISO)
beta-Zearalanol  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bromochloroacetic acid  (ISO)
brucine  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
carfilzomib  (ISO)
chalcone  (ISO)
CHIR 99021  (EXP)
chloroprene  (ISO)
chlorpromazine  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
Chorionic gonadotropin  (EXP)
chrysin  (ISO)
citral  (ISO)
clofibrate  (ISO)
cobalt atom  (ISO)
cobalt dichloride  (ISO)
cocaine  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
corosolic acid  (EXP)
cortisol  (EXP)
coumestrol  (ISO)
Cuprizon  (ISO)
cyclophosphamide  (ISO)
cyclosporin A  (EXP)
cylindrospermopsin  (EXP)
D-glucose  (ISO)
decabromodiphenyl ether  (EXP)
diarsenic trioxide  (EXP,ISO)
dibutyl phthalate  (EXP)
dicrotophos  (EXP)
dienestrol  (ISO)
diethyl maleate  (ISO)
diethyl phthalate  (ISO)
diethylstilbestrol  (ISO)
Dimethyl phthalate  (ISO)
dimethylarsinic acid  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
ebselen  (ISO)
equol  (ISO)
estra-1,3,5(10)-trien-3-ol  (ISO)
estriol  (EXP,ISO)
estrone  (ISO)
ethanol  (ISO)
fisetin  (ISO)
flavanone  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fosinopril  (ISO)
furan  (ISO)
gemcitabine  (EXP)
geranial  (ISO)
glucose  (ISO)
glyphosate  (ISO)
hesperidin  (ISO)
hexestrol  (ISO)
hypochlorous acid  (ISO)
imidacloprid  (ISO)
isoliquiritigenin  (ISO)
isoniazide  (EXP)
kaempferol  (ISO)
ketamine  (ISO)
L-ascorbic acid  (EXP)
L-ascorbic acid 2-phosphate  (EXP)
L-ethionine  (ISO)
L-methionine  (ISO)
levofloxacin  (ISO)
lipopolysaccharide  (ISO)
losartan  (ISO)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
masoprocol  (ISO)
mercury dibromide  (EXP)
mestranol  (ISO)
methimazole  (EXP,ISO)
methylarsonic acid  (ISO)
methylmercury chloride  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
monobenzone  (ISO)
myricetin  (ISO)
N,N'-diphenyl-1,4-phenylenediamine  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (EXP,ISO)
N-nitrosodimethylamine  (ISO)
N-nitrosomorpholine  (ISO)
nickel atom  (ISO)
nickel dichloride  (ISO)
niclosamide  (ISO)
nitrofen  (ISO)
ochratoxin A  (EXP)
ozone  (ISO)
panaxydol  (EXP)
paracetamol  (EXP,ISO)
perfluorooctanoic acid  (EXP)
perindopril  (ISO)
phenobarbital  (ISO)
phenol  (EXP)
phenylmercury acetate  (EXP)
phenytoin  (EXP,ISO)
phloretin  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
pirinixic acid  (EXP,ISO)
pluronic P-123  (ISO)
Poloxamer  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP,ISO)
quercetin  (ISO)
rotenone  (ISO)
S-adenosyl-L-methioninate  (ISO)
S-adenosyl-L-methionine  (ISO)
saccharin  (ISO)
SB 431542  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
simvastatin  (EXP)
sodium arsenite  (EXP,ISO)
sodium nitrate  (ISO)
sorafenib  (ISO)
streptozocin  (ISO)
succimer  (ISO)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
thiabendazole  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
thymoquinone  (ISO)
titanium dioxide  (ISO)
trans-chalcone  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
tris(2-butoxyethyl) phosphate  (EXP)
urea  (EXP)
valproic acid  (EXP,ISO)
XAV939  (EXP)
zinc dichloride  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Applicability of BALAD score in prognostication of hepatitis B-related hepatocellular carcinoma. Chan SL, etal., J Gastroenterol Hepatol. 2015 Oct;30(10):1529-35. doi: 10.1111/jgh.13005.
2. Serum biomarkers in metastatic renal cell carcinoma. Dexeus FH, etal., Urology. 1991 Jul;38(1):6-10.
3. Bone marrow derived-mesenchymal stem cells downregulate IL17A dependent IL6/STAT3 signaling pathway in CCl4-induced rat liver fibrosis. Farouk S, etal., PLoS One. 2018 Oct 22;13(10):e0206130. doi: 10.1371/journal.pone.0206130. eCollection 2018.
4. Alpha-fetoprotein, the major fetal serum protein, is not essential for embryonic development but is required for female fertility. Gabant P, etal., Proc Natl Acad Sci U S A 2002 Oct 1;99(20):12865-70. Epub 2002 Sep 24.
5. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
6. The Clinical Significance of Alpha-Fetoprotein mRNAs in Patients with Hepatocellular Carcinoma. Kobayashi S, etal., Gastrointest Tumors. 2017 Mar;3(3-4):141-152. doi: 10.1159/000455955. Epub 2017 Feb 8.
7. Prognostic analysis of Japanese men with metastatic germ cell tumors showing favorable response to bleomycin, etoposide and cisplatin as first-line chemotherapy. Kumano M, etal., Hinyokika Kiyo. 2007 Dec;53(12):851-6.
8. Elevated serum alpha fetoprotein levels promote pathological progression of hepatocellular carcinoma. Li P, etal., World J Gastroenterol. 2011 Nov 7;17(41):4563-71. doi: 10.3748/wjg.v17.i41.4563.
9. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
10. Assessment of 54 biomarkers for biopsy-detectable prostate cancer. Parekh DJ, etal., Cancer Epidemiol Biomarkers Prev. 2007 Oct;16(10):1966-72.
11. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
12. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
13. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
14. Synthesis of alpha-fetoprotein and some other serum proteins in testicular tumors. Sakashita S, etal., Invest Urol. 1977 Jul;15(1):2-4.
15. Elevation of serum alpha-fetoprotein and proliferation of oval cells in the livers of LEC rats. Takahashi H, etal., Jpn J Cancer Res. 1988 Jul;79(7):821-7. doi: 10.1111/j.1349-7006.1988.tb00043.x.
16. Direct-acting antiviral-based triple therapy on alpha-fetoprotein level in chronic hepatitis C patients. Takayama K, etal., World J Gastroenterol. 2015 Apr 21;21(15):4696-706. doi: 10.3748/wjg.v21.i15.4696.
17. Surgery in infants and children with testicular and paratesticular tumours: a single centre experience over a 25-year-period. Trobs RB, etal., Klin Padiatr. 2007 May-Jun;219(3):146-51.
18. Prolactin promotes hepatocellular carcinoma through Janus kinase 2. Yeh YT, etal., World J Surg. 2012 May;36(5):1128-35. doi: 10.1007/s00268-012-1505-4.
19. Development of multimarker panel for early detection of endometrial cancer. High diagnostic power of prolactin. Yurkovetsky Z, etal., Gynecol Oncol. 2007 Oct;107(1):58-65. Epub 2007 Jul 19.
20. Garlic Oil Suppressed Nitrosodiethylamine-Induced Hepatocarcinoma in Rats by Inhibiting PI3K-AKT-NF-κB Pathway. Zhang CL, etal., Int J Biol Sci. 2015 Apr 25;11(6):643-51. doi: 10.7150/ijbs.10785. eCollection 2015.
Additional References at PubMed
PMID:70228   PMID:71198   PMID:80265   PMID:89900   PMID:1371512   PMID:1703124   PMID:1709810   PMID:2414772   PMID:2436661   PMID:2445387   PMID:2474300   PMID:2580830  
PMID:4138095   PMID:6085063   PMID:6187626   PMID:6192439   PMID:6192711   PMID:6193792   PMID:7519015   PMID:7524678   PMID:7532927   PMID:7684942   PMID:9455924   PMID:9891062  
PMID:11764100   PMID:11788893   PMID:11861398   PMID:12006569   PMID:12167706   PMID:12176010   PMID:12361680   PMID:12477932   PMID:12499776   PMID:12503217   PMID:12615827   PMID:12804197  
PMID:12835590   PMID:14622304   PMID:14714299   PMID:15001643   PMID:15028291   PMID:15040024   PMID:15265907   PMID:15280901   PMID:15305374   PMID:15489334   PMID:15849812   PMID:15906357  
PMID:15993394   PMID:16169070   PMID:16203738   PMID:16627685   PMID:16869888   PMID:16882993   PMID:16892178   PMID:17175353   PMID:17175354   PMID:17188819   PMID:17197899   PMID:17237442  
PMID:17275497   PMID:17433605   PMID:17465484   PMID:17535089   PMID:17626741   PMID:17713163   PMID:17852813   PMID:18184471   PMID:18194454   PMID:18316609   PMID:18354237   PMID:18407604  
PMID:18422961   PMID:18466288   PMID:18479159   PMID:18485897   PMID:18551609   PMID:18563566   PMID:18577995   PMID:18609108   PMID:18657899   PMID:18802946   PMID:19003875   PMID:19038010  
PMID:19093203   PMID:19160651   PMID:19184104   PMID:19197197   PMID:19206006   PMID:19225928   PMID:19241193   PMID:19343004   PMID:19362088   PMID:19383238   PMID:19426602   PMID:19437037  
PMID:19457604   PMID:19494365   PMID:19501957   PMID:19574883   PMID:19593583   PMID:19615732   PMID:19785658   PMID:19968979   PMID:20070666   PMID:20101856   PMID:20149523   PMID:20363333  
PMID:20414942   PMID:20495646   PMID:20532728   PMID:20571936   PMID:20740583   PMID:20796153   PMID:21059290   PMID:21083609   PMID:21083802   PMID:21155886   PMID:21169258   PMID:21170957  
PMID:21235824   PMID:21301972   PMID:21312197   PMID:21365646   PMID:21411977   PMID:21438004   PMID:21592114   PMID:21745284   PMID:21793906   PMID:21873635   PMID:21952001   PMID:21965270  
PMID:21988832   PMID:22116493   PMID:22150277   PMID:22152641   PMID:22233759   PMID:22252180   PMID:22294840   PMID:22362471   PMID:22366528   PMID:22391642   PMID:22469729   PMID:22471500  
PMID:22472323   PMID:22521346   PMID:22524824   PMID:22535689   PMID:22559879   PMID:22561245   PMID:22672818   PMID:22709874   PMID:22935208   PMID:23020232   PMID:23038230   PMID:23169148  
PMID:23211536   PMID:23282286   PMID:23300138   PMID:23322323   PMID:23342486   PMID:23395581   PMID:23421992   PMID:23535732   PMID:23548745   PMID:23555170   PMID:23558072   PMID:23622526  
PMID:23743582   PMID:23763371   PMID:23886200   PMID:23895043   PMID:23980880   PMID:24065238   PMID:24106406   PMID:24123097   PMID:24190142   PMID:24226839   PMID:24236824   PMID:24299318  
PMID:24354994   PMID:24425104   PMID:24455683   PMID:24472068   PMID:24530300   PMID:24589829   PMID:24591342   PMID:24614696   PMID:24634927   PMID:24700365   PMID:24798303   PMID:24841158  
PMID:24922551   PMID:25041030   PMID:25064545   PMID:25128299   PMID:25167201   PMID:25206293   PMID:25355916   PMID:25456363   PMID:25577247   PMID:25597408   PMID:25648018   PMID:25652109  
PMID:25731670   PMID:25738614   PMID:25767942   PMID:25773802   PMID:25846403   PMID:25846475   PMID:25852278   PMID:25916058   PMID:25945007   PMID:25962419   PMID:25966084   PMID:25987792  
PMID:26019036   PMID:26078578   PMID:26078940   PMID:26125916   PMID:26162540   PMID:26176068   PMID:26176088   PMID:26252472   PMID:26349668   PMID:26373980   PMID:26436360   PMID:26441340  
PMID:26519622   PMID:26588210   PMID:26618566   PMID:26681337   PMID:26756858   PMID:26756996   PMID:26767857   PMID:26782388   PMID:26784252   PMID:26808496   PMID:26844573   PMID:26861571  
PMID:26887339   PMID:26927385   PMID:26968839   PMID:26976278   PMID:26986465   PMID:26986949   PMID:27070780   PMID:27121855   PMID:27123974   PMID:27160647   PMID:27255186   PMID:27304617  
PMID:27400853   PMID:27448301   PMID:27468575   PMID:27535982   PMID:27688662   PMID:27690720   PMID:27748052   PMID:27748053   PMID:27771626   PMID:27835609   PMID:27835879   PMID:27924522  
PMID:27925189   PMID:27936479   PMID:27997559   PMID:28011514   PMID:28211991   PMID:28296720   PMID:28468916   PMID:28498467   PMID:28540298   PMID:28554567   PMID:28582340   PMID:28621228  
PMID:28650134   PMID:28652441   PMID:28668957   PMID:28863782   PMID:28893428   PMID:28970114   PMID:28993684   PMID:29192630   PMID:29284589   PMID:29375212   PMID:29479896   PMID:29505494  
PMID:29572833   PMID:29696820   PMID:29717027   PMID:29744604   PMID:29806060   PMID:29808014   PMID:29888876   PMID:30082549   PMID:30089695   PMID:30249880   PMID:30259282   PMID:30522102  
PMID:30775893   PMID:30806789   PMID:30846192   PMID:30854929   PMID:30905450   PMID:30946366   PMID:31138428   PMID:31177570   PMID:31355926   PMID:31421008   PMID:31436873   PMID:31511712  
PMID:31517445   PMID:31585923   PMID:31593481   PMID:31599689   PMID:31646787   PMID:31648804   PMID:31736338   PMID:31811908   PMID:31829979   PMID:31849039   PMID:31915469   PMID:31925595  
PMID:31973032   PMID:31992114   PMID:32132566   PMID:32167614   PMID:32251652   PMID:32292079   PMID:32459893   PMID:32471447   PMID:32490681   PMID:32493393   PMID:32521927   PMID:32623383  
PMID:32636319   PMID:32733618   PMID:32845425   PMID:32945410   PMID:33009373   PMID:33015170   PMID:33090723   PMID:33093349   PMID:33173438   PMID:33357229   PMID:33368532   PMID:33495541  
PMID:33531690   PMID:33628341   PMID:33684673   PMID:33723698   PMID:33824478   PMID:33865328   PMID:33952502   PMID:33961781   PMID:34126947   PMID:34369278   PMID:34374292   PMID:34696675  
PMID:34750768   PMID:34862662   PMID:35082265   PMID:35458505   PMID:35620869   PMID:35944360   PMID:35948592   PMID:36180891   PMID:36244648   PMID:36265573   PMID:36591565   PMID:36724073  
PMID:36847613   PMID:36911723   PMID:37059927   PMID:37060820   PMID:37204028   PMID:37217071   PMID:37671572   PMID:38310085   PMID:38505913   PMID:38619448   PMID:38678117   PMID:39238192  


Genomics

Comparative Map Data
AFP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38473,436,221 - 73,456,174 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl473,431,138 - 73,456,174 (+)EnsemblGRCh38hg38GRCh38
GRCh37474,301,938 - 74,321,891 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36474,520,797 - 74,540,356 (+)NCBINCBI36Build 36hg18NCBI36
Build 34474,666,967 - 74,686,527NCBI
Celera471,661,745 - 71,681,240 (+)NCBICelera
Cytogenetic Map4q13.3ENTREZGENE
HuRef470,113,467 - 70,132,962 (+)NCBIHuRef
CHM1_1474,338,122 - 74,357,615 (+)NCBICHM1_1
T2T-CHM13v2.0476,779,943 - 76,799,830 (+)NCBIT2T-CHM13v2.0
Afp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39590,638,573 - 90,656,766 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl590,638,596 - 90,656,766 (+)EnsemblGRCm39 Ensembl
GRCm38590,490,714 - 90,508,907 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl590,490,737 - 90,508,907 (+)EnsemblGRCm38mm10GRCm38
MGSCv37590,919,740 - 90,937,933 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36591,565,937 - 91,584,106 (+)NCBIMGSCv36mm8
Celera588,652,007 - 88,670,199 (+)NCBICelera
Cytogenetic Map5E1NCBI
cM Map544.77NCBI
Afp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81417,857,584 - 17,875,645 (-)NCBIGRCr8
mRatBN7.21417,573,412 - 17,591,476 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1417,573,412 - 17,591,480 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1417,559,718 - 17,577,743 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01418,878,645 - 18,896,663 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01417,577,705 - 17,595,633 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01419,141,755 - 19,159,919 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1419,141,755 - 19,159,923 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01419,049,096 - 19,067,260 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41419,092,563 - 19,110,728 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11419,092,562 - 19,110,728 (-)NCBI
Celera1416,939,827 - 16,957,879 (-)NCBICelera
RH 3.4 Map14214.49RGD
Cytogenetic Map14p22NCBI
AFP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2356,607,582 - 56,626,380 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1456,796,622 - 56,815,436 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0450,739,197 - 50,758,459 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1456,571,519 - 56,590,391 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl456,571,519 - 56,590,391 (-)Ensemblpanpan1.1panPan2
AFP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11362,182,876 - 62,203,414 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1362,053,814 - 62,294,709 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1361,852,491 - 61,873,033 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01362,992,405 - 63,012,932 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1362,992,405 - 63,012,932 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11362,603,973 - 62,624,508 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01362,097,020 - 62,117,581 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01363,232,901 - 63,253,687 (+)NCBIUU_Cfam_GSD_1.0
Afp
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528513,606,058 - 13,625,722 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365982,058,117 - 2,077,728 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365982,058,474 - 2,077,711 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AFP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl869,677,690 - 69,698,864 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1869,677,690 - 69,698,864 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2873,777,748 - 73,798,926 (+)NCBISscrofa10.2Sscrofa10.2susScr3
AFP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1721,904,225 - 21,924,105 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl721,905,154 - 21,924,092 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666084873,280 - 892,444 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Afp
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473534,072,192 - 34,092,604 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473534,072,257 - 34,092,540 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AFP
47 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000004.12:g.73436100G>A single nucleotide variant Alpha-fetoprotein, hereditary persistence of [RCV000019798] Chr4:73436100 [GRCh38]
Chr4:74301817 [GRCh37]
Chr4:4q13.3
pathogenic|affects
NM_001134.3(AFP):c.883_884del (p.Leu295fs) microsatellite Alpha-fetoprotein deficiency [RCV000019799] Chr4:73447499..73447500 [GRCh38]
Chr4:74313216..74313217 [GRCh37]
Chr4:4q13.3
pathogenic
NM_001134.3(AFP):c.543G>A (p.Trp181Ter) single nucleotide variant Alpha-fetoprotein deficiency [RCV000019800] Chr4:73442356 [GRCh38]
Chr4:74308073 [GRCh37]
Chr4:4q13.3
pathogenic
GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3 copy number gain See cases [RCV000051774] Chr4:71128874..78099088 [GRCh38]
Chr4:71994591..79020242 [GRCh37]
Chr4:72213455..79239266 [NCBI36]
Chr4:4q13.3-21.21
pathogenic
GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3 copy number gain See cases [RCV000051772] Chr4:51831622..97505618 [GRCh38]
Chr4:52697788..98426769 [GRCh37]
Chr4:52392545..98645792 [NCBI36]
Chr4:4q12-22.3
pathogenic
GRCh38/hg38 4q13.3-21.22(chr4:71079179-81802208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053295]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053295]|See cases [RCV000053295] Chr4:71079179..81802208 [GRCh38]
Chr4:71944896..82723361 [GRCh37]
Chr4:72163760..82942385 [NCBI36]
Chr4:4q13.3-21.22
pathogenic
GRCh38/hg38 4q13.2-21.23(chr4:67869564-85517308)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]|See cases [RCV000053294] Chr4:67869564..85517308 [GRCh38]
Chr4:68735282..86438461 [GRCh37]
Chr4:68417877..86657485 [NCBI36]
Chr4:4q13.2-21.23
pathogenic
NC_000004.12:g.73436164C>A single nucleotide variant Alpha-fetoprotein, hereditary persistence of [RCV000190821] Chr4:73436164 [GRCh38]
Chr4:74301881 [GRCh37]
Chr4:4q13.3
pathogenic|likely pathogenic|affects
GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1 copy number loss See cases [RCV000137622] Chr4:67799665..74240920 [GRCh38]
Chr4:68665383..75106637 [GRCh37]
Chr4:68347978..75325501 [NCBI36]
Chr4:4q13.2-13.3
likely pathogenic
GRCh38/hg38 4q13.3(chr4:71432026-73648490)x1 copy number loss See cases [RCV000137732] Chr4:71432026..73648490 [GRCh38]
Chr4:72297743..74514207 [GRCh37]
Chr4:72516607..74733071 [NCBI36]
Chr4:4q13.3
likely pathogenic
GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3 copy number gain See cases [RCV000138312] Chr4:72262258..86002147 [GRCh38]
Chr4:73127975..86923300 [GRCh37]
Chr4:73346839..87142324 [NCBI36]
Chr4:4q13.3-21.3
pathogenic
GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3 copy number gain See cases [RCV000143458] Chr4:68686088..95294456 [GRCh38]
Chr4:69551806..96215607 [GRCh37]
Chr4:69234401..96434630 [NCBI36]
Chr4:4q13.2-22.3
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q13.1-21.1(chr4:66017575-76772947)x1 copy number loss See cases [RCV000510445] Chr4:66017575..76772947 [GRCh37]
Chr4:4q13.1-21.1
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_001134.3(AFP):c.1045A>G (p.Ile349Val) single nucleotide variant not specified [RCV004309367] Chr4:73447663 [GRCh38]
Chr4:74313380 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001134.3(AFP):c.1334C>T (p.Ser445Leu) single nucleotide variant not specified [RCV004295144] Chr4:73450659 [GRCh38]
Chr4:74316376 [GRCh37]
Chr4:4q13.3
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q13.3(chr4:73952783-75261407)x3 copy number gain not provided [RCV000682420] Chr4:73952783..75261407 [GRCh37]
Chr4:4q13.3
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_001134.3(AFP):c.1641= (p.Thr547=) variation not provided [RCV000971502] Chr4:73452613 [GRCh38]
Chr4:74318330 [GRCh37]
Chr4:4q13.3
benign
GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1 copy number loss not provided [RCV001005553] Chr4:68950363..79738598 [GRCh37]
Chr4:4q13.2-21.21
pathogenic
GRCh37/hg19 4q13.3(chr4:74304764-74357478)x1 copy number loss not provided [RCV001005559] Chr4:74304764..74357478 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001134.3(AFP):c.823C>G (p.Leu275Val) single nucleotide variant not specified [RCV004301048] Chr4:73445102 [GRCh38]
Chr4:74310819 [GRCh37]
Chr4:4q13.3
uncertain significance
GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3 copy number gain not provided [RCV000845944] Chr4:68242784..82991431 [GRCh37]
Chr4:4q13.2-21.22
pathogenic
GRCh37/hg19 4q13.3-21.1(chr4:71561780-78304341)x1 copy number loss not provided [RCV000846231] Chr4:71561780..78304341 [GRCh37]
Chr4:4q13.3-21.1
pathogenic
NM_001134.3(AFP):c.325G>C (p.Gly109Arg) single nucleotide variant not provided [RCV000918797] Chr4:73440656 [GRCh38]
Chr4:74306373 [GRCh37]
Chr4:4q13.3
benign
NM_001134.3(AFP):c.714-5C>T single nucleotide variant not provided [RCV000914593] Chr4:73444988 [GRCh38]
Chr4:74310705 [GRCh37]
Chr4:4q13.3
likely benign
NM_001134.3(AFP):c.399A>G (p.Pro133=) single nucleotide variant not provided [RCV000916797] Chr4:73440730 [GRCh38]
Chr4:74306447 [GRCh37]
Chr4:4q13.3
likely benign
NM_001134.3(AFP):c.1389A>G (p.Gln463=) single nucleotide variant not provided [RCV000909345] Chr4:73450714 [GRCh38]
Chr4:74316431 [GRCh37]
Chr4:4q13.3
likely benign
NM_001134.3(AFP):c.858C>T (p.Ser286=) single nucleotide variant not provided [RCV000950397] Chr4:73447476 [GRCh38]
Chr4:74313193 [GRCh37]
Chr4:4q13.3
benign
NM_001134.3(AFP):c.1335G>A (p.Ser445=) single nucleotide variant not provided [RCV000962090] Chr4:73450660 [GRCh38]
Chr4:74316377 [GRCh37]
Chr4:4q13.3
benign
GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1 copy number loss not provided [RCV001005556] Chr4:72680879..86426232 [GRCh37]
Chr4:4q13.3-21.23
pathogenic
GRCh37/hg19 4q13.3(chr4:74275515-74688555)x3 copy number gain See cases [RCV001194536] Chr4:74275515..74688555 [GRCh37]
Chr4:4q13.3
uncertain significance
GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1 copy number loss See cases [RCV001263040] Chr4:71412409..87920784 [GRCh37]
Chr4:4q13.3-21.3
pathogenic
NM_001134.3(AFP):c.*10+2T>C single nucleotide variant Alpha-fetoprotein deficiency [RCV001293013] Chr4:73455292 [GRCh38]
Chr4:74321009 [GRCh37]
Chr4:4q13.3
pathogenic
NM_001134.3(AFP):c.1822G>A (p.Gly608Arg) single nucleotide variant Premature ovarian failure [RCV001270197] Chr4:73455272 [GRCh38]
Chr4:74320989 [GRCh37]
Chr4:4q13.3
likely pathogenic
GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1 copy number loss Piebaldism [RCV001420508] Chr4:51891814..76009719 [GRCh38]
Chr4:4q12-21.1
pathogenic
NC_000004.12:g.67833055_82716065del deletion See cases [RCV003313802] Chr4:67833055..82716065 [GRCh38]
Chr4:4q13.2-21.22
pathogenic
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21
pathogenic
GRCh37/hg19 4q13.1-13.3(chr4:61867555-74711517) copy number loss not specified [RCV002053422] Chr4:61867555..74711517 [GRCh37]
Chr4:4q13.1-13.3
pathogenic
GRCh37/hg19 4q13.3-21.21(chr4:73055313-80083154) copy number loss not specified [RCV002053427] Chr4:73055313..80083154 [GRCh37]
Chr4:4q13.3-21.21
pathogenic
NM_001134.3(AFP):c.1171C>G (p.Leu391Val) single nucleotide variant not specified [RCV004164679] Chr4:73449447 [GRCh38]
Chr4:74315164 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001134.3(AFP):c.1439T>C (p.Ile480Thr) single nucleotide variant not specified [RCV004119184] Chr4:73452411 [GRCh38]
Chr4:74318128 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001134.3(AFP):c.1594A>G (p.Ile532Val) single nucleotide variant not specified [RCV004245797] Chr4:73452566 [GRCh38]
Chr4:74318283 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001134.3(AFP):c.1816G>T (p.Ala606Ser) single nucleotide variant not specified [RCV004217022] Chr4:73455266 [GRCh38]
Chr4:74320983 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001134.3(AFP):c.881C>T (p.Thr294Ile) single nucleotide variant not specified [RCV004164155] Chr4:73447499 [GRCh38]
Chr4:74313216 [GRCh37]
Chr4:4q13.3
likely benign
NM_001134.3(AFP):c.550C>T (p.Arg184Cys) single nucleotide variant not specified [RCV004198306] Chr4:73442363 [GRCh38]
Chr4:74308080 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001134.3(AFP):c.418C>A (p.Gln140Lys) single nucleotide variant not specified [RCV004201364] Chr4:73440749 [GRCh38]
Chr4:74306466 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001134.3(AFP):c.932G>A (p.Gly311Asp) single nucleotide variant not specified [RCV004145612] Chr4:73447550 [GRCh38]
Chr4:74313267 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001134.3(AFP):c.1466A>C (p.Glu489Ala) single nucleotide variant not specified [RCV004096022] Chr4:73452438 [GRCh38]
Chr4:74318155 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001134.3(AFP):c.962A>C (p.Glu321Ala) single nucleotide variant not specified [RCV004165832] Chr4:73447580 [GRCh38]
Chr4:74313297 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001134.3(AFP):c.1427C>T (p.Ala476Val) single nucleotide variant not specified [RCV004124469] Chr4:73450752 [GRCh38]
Chr4:74316469 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001134.3(AFP):c.944T>C (p.Ile315Thr) single nucleotide variant not specified [RCV004269879] Chr4:73447562 [GRCh38]
Chr4:74313279 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001134.3(AFP):c.1599C>G (p.Phe533Leu) single nucleotide variant not specified [RCV004306579] Chr4:73452571 [GRCh38]
Chr4:74318288 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001134.3(AFP):c.286G>A (p.Glu96Lys) single nucleotide variant not specified [RCV004261851] Chr4:73440617 [GRCh38]
Chr4:74306334 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001134.3(AFP):c.401C>T (p.Ala134Val) single nucleotide variant not specified [RCV004338502] Chr4:73440732 [GRCh38]
Chr4:74306449 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001134.3(AFP):c.712A>C (p.Ile238Leu) single nucleotide variant not specified [RCV004338869] Chr4:73443443 [GRCh38]
Chr4:74309160 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001134.3(AFP):c.406A>T (p.Ile136Phe) single nucleotide variant not specified [RCV004342312] Chr4:73440737 [GRCh38]
Chr4:74306454 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001134.3(AFP):c.941T>C (p.Ile314Thr) single nucleotide variant not specified [RCV004359535] Chr4:73447559 [GRCh38]
Chr4:74313276 [GRCh37]
Chr4:4q13.3
uncertain significance
GRCh37/hg19 4q13.2-13.3(chr4:69146217-75500577)x1 copy number loss not provided [RCV003485422] Chr4:69146217..75500577 [GRCh37]
Chr4:4q13.2-13.3
pathogenic
NM_001134.3(AFP):c.1446A>G (p.Gly482=) single nucleotide variant AFP-related disorder [RCV003954460] Chr4:73452418 [GRCh38]
Chr4:74318135 [GRCh37]
Chr4:4q13.3
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_001134.3(AFP):c.1640C>T (p.Thr547Ile) single nucleotide variant AFP-related disorder [RCV003962163] Chr4:73452612 [GRCh38]
Chr4:74318329 [GRCh37]
Chr4:4q13.3
benign
NM_001134.3(AFP):c.149T>A (p.Phe50Tyr) single nucleotide variant AFP-related disorder [RCV003957249] Chr4:73438185 [GRCh38]
Chr4:74303902 [GRCh37]
Chr4:4q13.3
likely benign
NM_001134.3(AFP):c.1533C>T (p.Cys511=) single nucleotide variant AFP-related disorder [RCV003926781] Chr4:73452505 [GRCh38]
Chr4:74318222 [GRCh37]
Chr4:4q13.3
likely benign
NM_001134.3(AFP):c.844-10T>C single nucleotide variant AFP-related disorder [RCV003974523] Chr4:73447452 [GRCh38]
Chr4:74313169 [GRCh37]
Chr4:4q13.3
benign
NM_001134.3(AFP):c.1674G>C (p.Lys558Asn) single nucleotide variant not specified [RCV004386220] Chr4:73453786 [GRCh38]
Chr4:74319503 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001134.3(AFP):c.1693G>C (p.Glu565Gln) single nucleotide variant not specified [RCV004386222] Chr4:73453805 [GRCh38]
Chr4:74319522 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001134.3(AFP):c.1767A>T (p.Glu589Asp) single nucleotide variant not specified [RCV004386229] Chr4:73453879 [GRCh38]
Chr4:74319596 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001134.3(AFP):c.394A>C (p.Thr132Pro) single nucleotide variant not specified [RCV004386242] Chr4:73440725 [GRCh38]
Chr4:74306442 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001134.3(AFP):c.1621C>A (p.Gln541Lys) single nucleotide variant not specified [RCV004386216] Chr4:73452593 [GRCh38]
Chr4:74318310 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001134.3(AFP):c.428A>C (p.Glu143Ala) single nucleotide variant not specified [RCV004386252] Chr4:73440759 [GRCh38]
Chr4:74306476 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001134.3(AFP):c.167A>G (p.Gln56Arg) single nucleotide variant not specified [RCV004622507] Chr4:73438203 [GRCh38]
Chr4:74303920 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001134.3(AFP):c.1426G>A (p.Ala476Thr) single nucleotide variant not specified [RCV004622532] Chr4:73450751 [GRCh38]
Chr4:74316468 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001134.3(AFP):c.1001T>C (p.Leu334Ser) single nucleotide variant not specified [RCV004622496] Chr4:73447619 [GRCh38]
Chr4:74313336 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001134.3(AFP):c.1178G>A (p.Cys393Tyr) single nucleotide variant not specified [RCV004622518] Chr4:73449454 [GRCh38]
Chr4:74315171 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001134.3(AFP):c.118G>A (p.Glu40Lys) single nucleotide variant not specified [RCV004622528] Chr4:73437192 [GRCh38]
Chr4:74302909 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001134.3(AFP):c.1641A>G (p.Thr547=) single nucleotide variant Alpha-fetoprotein deficiency [RCV004698717] Chr4:73452613 [GRCh38]
Chr4:74318330 [GRCh37]
Chr4:4q13.3
benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:477
Count of miRNA genes:246
Interacting mature miRNAs:260
Transcripts:ENST00000226359, ENST00000395792, ENST00000506820, ENST00000508838, ENST00000513720, ENST00000514279, ENST00000515675
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407281639GWAS930615_Hbody height QTL GWAS930615 (human)1e-23body height (VT:0001253)body height (CMO:0000106)47345588373455884Human
406935314GWAS584290_Halpha fetoprotein measurement QTL GWAS584290 (human)7e-198blood alpha-fetoprotein amount (VT:0010776)47343715373437154Human
406968533GWAS617509_Hprotein measurement QTL GWAS617509 (human)3e-29protein measurement47344733673447337Human
407228129GWAS877105_Hserum albumin measurement QTL GWAS877105 (human)4e-17serum albumin measurementserum albumin level (CMO:0000550)47345564873455649Human
407236912GWAS885888_H1,3,7-trimethylurate measurement QTL GWAS885888 (human)0.000011,3,7-trimethylurate measurement47345529273455293Human
407327617GWAS976593_Hserum albumin measurement QTL GWAS976593 (human)6e-09serum albumin measurementserum albumin level (CMO:0000550)47345564873455649Human
407329248GWAS978224_Halpha fetoprotein measurement QTL GWAS978224 (human)1e-237blood alpha-fetoprotein amount (VT:0010776)47344893273448933Human
407361131GWAS1010107_Halpha fetoprotein measurement QTL GWAS1010107 (human)1e-09blood alpha-fetoprotein amount (VT:0010776)47343715373437154Human
407022943GWAS671919_Hcancer biomarker measurement QTL GWAS671919 (human)3e-18cancer biomarker measurement47345356673453567Human
407229163GWAS878139_Hserum albumin measurement QTL GWAS878139 (human)3e-11serum albumin measurementserum albumin level (CMO:0000550)47345278373452784Human
407237498GWAS886474_Hserum albumin measurement QTL GWAS886474 (human)4e-09serum albumin measurementserum albumin level (CMO:0000550)47345606373456064Human

Markers in Region
SHGC-59540  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37474,320,868 - 74,321,200UniSTSGRCh37
Build 36474,539,732 - 74,540,064RGDNCBI36
Celera471,680,616 - 71,680,948RGD
Cytogenetic Map4q13.3UniSTS
HuRef470,132,338 - 70,132,670UniSTS
GeneMap99-GB4 RH Map4426.08UniSTS
SHGC-107546  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37474,320,865 - 74,321,202UniSTSGRCh37
Build 36474,539,729 - 74,540,066RGDNCBI36
Celera471,680,613 - 71,680,950RGD
Cytogenetic Map4q13.3UniSTS
HuRef470,132,335 - 70,132,672UniSTS
TNG Radiation Hybrid Map442857.0UniSTS
D4S3144  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37474,321,357 - 74,321,476UniSTSGRCh37
Build 36474,540,221 - 74,540,340RGDNCBI36
Celera471,681,105 - 71,681,224RGD
Cytogenetic Map4q13.3UniSTS
HuRef470,132,827 - 70,132,946UniSTS
TNG Radiation Hybrid Map443056.0UniSTS
Stanford-G3 RH Map44122.0UniSTS
GeneMap99-G3 RH Map44106.0UniSTS
SHGC-67270  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37474,321,005 - 74,321,203UniSTSGRCh37
Build 36474,539,869 - 74,540,067RGDNCBI36
Celera471,680,753 - 71,680,951RGD
Cytogenetic Map4q13.3UniSTS
HuRef470,132,475 - 70,132,673UniSTS
GeneMap99-GB4 RH Map4424.02UniSTS
SHGC-50928  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37474,301,214 - 74,301,460UniSTSGRCh37
Build 36474,520,078 - 74,520,324RGDNCBI36
Celera471,661,026 - 71,661,272RGD
Cytogenetic Map4q13.3UniSTS
HuRef470,112,748 - 70,112,994UniSTS
TNG Radiation Hybrid Map443011.0UniSTS
MARC_3052-3053:991936680:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37474,315,771 - 74,316,367UniSTSGRCh37
Build 36474,534,635 - 74,535,231RGDNCBI36
Celera471,675,519 - 71,676,115RGD
HuRef470,127,241 - 70,127,837UniSTS
MARC_15793-15794:1013620256:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37474,315,119 - 74,315,795UniSTSGRCh37
Celera471,674,867 - 71,675,543UniSTS
HuRef470,126,589 - 70,127,265UniSTS


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
490 1069 747 1141 2408 966 1018 1 499 265 452 767 3084 2427 15 1820 429 987 488 53

Sequence


Ensembl Acc Id: ENST00000226359   ⟹   ENSP00000226359
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl473,436,247 - 73,455,743 (+)Ensembl
Ensembl Acc Id: ENST00000395792   ⟹   ENSP00000379138
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl473,436,221 - 73,456,174 (+)Ensembl
Ensembl Acc Id: ENST00000506820
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl473,453,490 - 73,455,777 (+)Ensembl
Ensembl Acc Id: ENST00000508838
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl473,450,549 - 73,455,741 (+)Ensembl
Ensembl Acc Id: ENST00000513720
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl473,431,138 - 73,437,210 (+)Ensembl
Ensembl Acc Id: ENST00000514279
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl473,452,400 - 73,455,570 (+)Ensembl
Ensembl Acc Id: ENST00000515675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl473,431,159 - 73,437,210 (+)Ensembl
RefSeq Acc Id: NM_001134   ⟹   NP_001125
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38473,436,221 - 73,456,174 (+)NCBI
GRCh37474,301,933 - 74,321,492 (+)ENTREZGENE
Build 36474,520,797 - 74,540,356 (+)NCBI Archive
HuRef470,113,470 - 70,132,972 (+)NCBI
CHM1_1474,338,125 - 74,357,625 (+)NCBI
T2T-CHM13v2.0476,779,943 - 76,799,830 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354717   ⟹   NP_001341646
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38473,436,221 - 73,456,174 (+)NCBI
T2T-CHM13v2.0476,779,943 - 76,799,830 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001125   ⟸   NM_001134
- Peptide Label: isoform 1 precursor
- UniProtKB: B2RBU3 (UniProtKB/Swiss-Prot),   P02771 (UniProtKB/Swiss-Prot),   J3KMX3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341646   ⟸   NM_001354717
- Peptide Label: isoform 2
- UniProtKB: B4DMX4 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000379138   ⟸   ENST00000395792
Ensembl Acc Id: ENSP00000226359   ⟸   ENST00000226359
Protein Domains
Albumin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P02771-F1-model_v2 AlphaFold P02771 1-609 view protein structure

Promoters
RGD ID:6867696
Promoter ID:EPDNEW_H7013
Type:initiation region
Name:AFP_1
Description:alpha fetoprotein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38473,436,224 - 73,436,284EPDNEW
RGD ID:6849596
Promoter ID:EP16046
Type:single initiation site
Name:HS_AFP
Description:alpha-fetoprotein.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 92; Mammalian alpha-fetoprotein.
Tissues & Cell Lines:fetus, liver
Experiment Methods:Nuclease protection with homologous sequence ladder
Position:
Human AssemblyChrPosition (strand)Source
Build 36474,520,800 - 74,520,860EPD
RGD ID:6812476
Promoter ID:HG_ACW:59641
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:AFP.CAPR07,   AFP.DAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36474,534,971 - 74,535,471 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:317 AgrOrtholog
COSMIC AFP COSMIC
Ensembl Genes ENSG00000081051 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000226359.2 UniProtKB/TrEMBL
  ENST00000395792 ENTREZGENE
  ENST00000395792.7 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.246.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000081051 GTEx
HGNC ID HGNC:317 ENTREZGENE
Human Proteome Map AFP Human Proteome Map
InterPro ALB/AFP/VDB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serum_albumin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serum_albumin/AFP/Afamin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serum_albumin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serum_albumin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:174 UniProtKB/Swiss-Prot
NCBI Gene 174 ENTREZGENE
OMIM 104150 OMIM
PANTHER ALPHA-FETOPROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11385 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Serum_albumin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24614 PharmGKB
PIRSF Serum_albumin_subgroup UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS AFETOPROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SERUMALBUMIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ALBUMIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ALBUMIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ALBUMIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48552 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2RBU3 ENTREZGENE
  B4DMX4 ENTREZGENE, UniProtKB/TrEMBL
  FETA_HUMAN UniProtKB/Swiss-Prot
  J3KMX3 ENTREZGENE, UniProtKB/TrEMBL
  P02771 ENTREZGENE
UniProt Secondary B2RBU3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 AFP  alpha fetoprotein  AFP  alpha-fetoprotein  Symbol and/or name change 5135510 APPROVED