Advanced Search (OLGA)

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 be involved in response to nutrient levels. 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. 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

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Afp (alpha fetoprotein)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Afp (alpha-fetoprotein)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Pan paniscus (bonobo/pygmy chimpanzee):	AFP (alpha fetoprotein)	NCBI	Ortholog
Canis lupus familiaris (dog):	AFP (alpha fetoprotein)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, PhylomeDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Afp (alpha fetoprotein)	NCBI	Ortholog
Sus scrofa (pig):	AFP (alpha fetoprotein)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	AFP (alpha fetoprotein)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Afp (alpha fetoprotein)	NCBI	Ortholog
Rattus rattus (black rat):	Afp (alpha fetoprotein)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Yju2l1 (YJU2 splicing factor like 1)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Afp (alpha-fetoprotein)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Rattus norvegicus (Norway rat):	Afp (alpha-fetoprotein)	Alliance	DIOPT (HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Afp (alpha fetoprotein)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	alb	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	4	73,436,221 - 73,456,174 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	4	73,431,138 - 73,456,174 (+)	Ensembl			hg38	GRCh38
GRCh37	4	74,301,938 - 74,321,891 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	4	74,520,797 - 74,540,356 (+)	NCBI	Build 36	Build 36	hg18	NCBI36
Build 34	4	74,666,967 - 74,686,527	NCBI
Celera	4	71,661,745 - 71,681,240 (+)	NCBI		Celera
Cytogenetic Map	4	q13.3	ENTREZGENE
HuRef	4	70,113,467 - 70,132,962 (+)	NCBI		HuRef
CHM1_1	4	74,338,122 - 74,357,615 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	4	76,779,943 - 76,799,830 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Alpha-Fetoprotein Deficiency (EXP,IAGP)

Alpha-Fetoprotein, Hereditary Persistence of (IAGP)

Breast Neoplasms (EXP)

embryonal carcinoma (IEP)

endodermal sinus tumor (IEP)

endometrial cancer (IEP)

Experimental Liver Cirrhosis (EXP,ISO)

Experimental Liver Neoplasms (EXP)

Experimental Mammary Neoplasms (EXP)

Female Infertility (ISO)

Germ Cell and Embryonal Neoplasms (IEP)

hepatitis (ISO)

hepatitis C (IDA)

hepatocellular carcinoma (EXP,IEP,ISO)

liver disease (EXP)

primary ovarian insufficiency (IAGP)

prostate cancer (IEP)

renal cell carcinoma (IEP)

Stomach Neoplasms (EXP)

teratocarcinoma (IEP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

(+)-taxifolin (ISO)

(-)-epigallocatechin 3-gallate (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)

7,12-dimethyltetraphene (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-naphthoflavone (EXP)

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)

chlorogenic acid (ISO)

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)

deoxynivalenol (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)

diphenyl diselenide (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-citrulline (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)

Nivalenol (EXP)

ochratoxin A (EXP)

okadaic acid (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)

resveratrol (ISO)

rotenone (EXP,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 arsenate (ISO)

sodium arsenite (EXP,ISO)

sodium nitrate (ISO)

sorafenib (ISO)

streptozocin (ISO)

succimer (ISO)

tamoxifen (ISO)

tannic acid (ISO)

tartrazine (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

Biological Process

animal organ regeneration (ISO)

apoptotic process (IEA)

cellular response to retinoic acid (ISO)

homeostasis of number of cells (IEA)

immune response (IEA)

liver development (ISO)

liver regeneration (ISO)

ovulation from ovarian follicle (IEA)

pancreas development (ISO)

progesterone metabolic process (IEA)

response to dexamethasone (ISO)

response to nutrient levels (IBA)

response to tetrachloromethane (ISO)

Cellular Component

cytoplasm (IEA)

endoplasmic reticulum lumen (TAS)

extracellular region (IEA)

extracellular space (IEA,ISO)

Molecular Function

metal ion binding (IEA)

protein binding (IPI)

small molecule binding (IBA)

Molecular Pathway Annotations Click to see Annotation Detail View

forkhead class A signaling pathway (EXP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Autosomal dominant inheritance (IAGP)

Autosomal recessive inheritance (IAGP)

Decreased circulating alpha-fetoprotein concentration (IAGP)

Elevated circulating alpha-fetoprotein concentration (IAGP)

Premature ovarian insufficiency (IAGP)

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: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:37450367	PMID:37671572	PMID:38310085	PMID:38505913	PMID:38619448	PMID:38678117	PMID:39238192
PMID:39822733

Genomics

Comparative Map Data

AFP
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	4	73,436,221 - 73,456,174 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	4	73,431,138 - 73,456,174 (+)	Ensembl			hg38	GRCh38
GRCh37	4	74,301,938 - 74,321,891 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	4	74,520,797 - 74,540,356 (+)	NCBI	Build 36	Build 36	hg18	NCBI36
Build 34	4	74,666,967 - 74,686,527	NCBI
Celera	4	71,661,745 - 71,681,240 (+)	NCBI		Celera
Cytogenetic Map	4	q13.3	ENTREZGENE
HuRef	4	70,113,467 - 70,132,962 (+)	NCBI		HuRef
CHM1_1	4	74,338,122 - 74,357,615 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	4	76,779,943 - 76,799,830 (+)	NCBI		T2T-CHM13v2.0

Afp
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	5	90,638,573 - 90,656,766 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	5	90,638,596 - 90,656,766 (+)	Ensembl		GRCm39 Ensembl		GRCm39
GRCm38	5	90,490,714 - 90,508,907 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	5	90,490,737 - 90,508,907 (+)	Ensembl			mm10	GRCm38
MGSCv37	5	90,919,740 - 90,937,933 (+)	NCBI	MGSCv37	MGSCv37	mm9	NCBIm37
MGSCv36	5	91,565,937 - 91,584,106 (+)	NCBI		MGSCv36	mm8
Celera	5	88,652,007 - 88,670,199 (+)	NCBI		Celera
Cytogenetic Map	5	E1	NCBI
cM Map	5	44.77	NCBI

Afp
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	14	17,857,584 - 17,875,645 (-)	NCBI	GRCr8	GRCr8		GRCr8
GRCr8 Ensembl	14	17,857,584 - 17,875,649 (-)	Ensembl				GRCr8
mRatBN7.2	14	17,573,412 - 17,591,476 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	14	17,573,412 - 17,591,480 (-)	Ensembl				mRatBN7.2
UTH_Rnor_SHR_Utx	14	17,559,718 - 17,577,743 (-)	NCBI	UTH_Rnor_SHR_Utx	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	14	18,878,645 - 18,896,663 (-)	NCBI	UTH_Rnor_SHRSP_BbbUtx_1.0	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	14	17,577,705 - 17,595,633 (-)	NCBI	UTH_Rnor_WKY_Bbb_1.0	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	14	19,141,755 - 19,159,919 (-)	NCBI	Rnor_6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	14	19,141,755 - 19,159,923 (-)	Ensembl			rn6	Rnor6.0
Rnor_5.0	14	19,049,096 - 19,067,260 (-)	NCBI	Rnor_5.0	Rnor_5.0	rn5
RGSC_v3.4	14	19,092,563 - 19,110,728 (-)	NCBI	RGSC_v3.4	RGSC_v3.4	rn4
Celera	14	16,939,827 - 16,957,879 (-)	NCBI		Celera
RGSC_v3.1	14	19,092,562 - 19,110,728 (-)	NCBI
RH 3.4 Map	14	214.49	RGD
Cytogenetic Map	14	p22	NCBI

AFP
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	3	56,607,582 - 56,626,380 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	4	56,796,622 - 56,815,436 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	4	50,739,197 - 50,758,459 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	4	56,571,519 - 56,590,391 (-)	NCBI	PanPan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	4	56,571,519 - 56,590,391 (-)	Ensembl			panPan2	panpan1.1

AFP
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	13	62,182,876 - 62,203,414 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	13	62,053,814 - 62,294,709 (+)	Ensembl			canFam3	CanFam3.1
Dog10K_Boxer_Tasha	13	61,852,491 - 61,873,033 (+)	NCBI	Dog10K_Boxer_Tasha	Dog10K_Boxer_Tasha
ROS_Cfam_1.0	13	62,992,405 - 63,012,932 (+)	NCBI	ROS_Cfam_1.0	ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	13	62,992,405 - 63,012,932 (+)	Ensembl				ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	13	62,603,973 - 62,624,508 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	13	62,097,020 - 62,117,581 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	13	63,232,901 - 63,253,687 (+)	NCBI	UU_Cfam_GSD_1.0	UU_Cfam_GSD_1.0

Afp
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405285	13,606,058 - 13,625,722 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936598	2,058,117 - 2,077,728 (-)	Ensembl		SpeTri2.0 Ensembl
SpeTri2.0	NW_004936598	2,058,474 - 2,077,711 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

AFP
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	8	69,677,690 - 69,698,864 (+)	Ensembl			susScr11	Sscrofa11.1
Sscrofa11.1	8	69,677,690 - 69,698,864 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	8	73,777,748 - 73,798,926 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

AFP
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	7	21,904,225 - 21,924,105 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	7	21,905,154 - 21,924,092 (+)	Ensembl		ChlSab1.1 Ensembl	chlSab2	Vervet-AGM
Vero_WHO_p1.0	NW_023666084	873,280 - 892,444 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Afp
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624735	34,072,192 - 34,092,604 (-)	Ensembl		HetGla_female_1.0 Ensembl	hetGla2	HetGla_female_1.0 Ensembl
HetGla 1.0	NW_004624735	34,072,257 - 34,092,540 (-)	NCBI	HetGla 1.0	HetGla 1.0	hetGla2

Afp
(Rattus rattus - black rat)

Black Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Black Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Rrattus_CSIRO_v1	11	3,934,395 - 3,952,251 (+)	NCBI		Rrattus_CSIRO_v1

Variants

Variants in AFP
78 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, hereditary persistence of [RCV005356960]	Chr4:73455292 [GRCh38] Chr4:74321009 [GRCh37] Chr4:4q13.3	pathogenic\|likely benign
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
NM_001134.3(AFP):c.1412C>T (p.Ala471Val)	single nucleotide variant	not specified [RCV004912126]	Chr4:73450737 [GRCh38] Chr4:74316454 [GRCh37] Chr4:4q13.3	uncertain significance
NM_001134.3(AFP):c.973G>C (p.Gly325Arg)	single nucleotide variant	not specified [RCV004912133]	Chr4:73447591 [GRCh38] Chr4:74313308 [GRCh37] Chr4:4q13.3	uncertain significance
NM_001134.3(AFP):c.1103C>T (p.Ser368Leu)	single nucleotide variant	not specified [RCV004912109]	Chr4:73449379 [GRCh38] Chr4:74315096 [GRCh37] Chr4:4q13.3	uncertain significance
GRCh37/hg19 4q13.3(chr4:73525454-74798758)x3	copy number gain	not provided [RCV004819477]	Chr4:73525454..74798758 [GRCh37] Chr4:4q13.3	uncertain significance
NM_001134.3(AFP):c.1102T>C (p.Ser368Pro)	single nucleotide variant	not specified [RCV004912099]	Chr4:73449378 [GRCh38] Chr4:74315095 [GRCh37] Chr4:4q13.3	likely benign
NM_001134.3(AFP):c.695C>T (p.Thr232Ile)	single nucleotide variant	not specified [RCV004912138]	Chr4:73443426 [GRCh38] Chr4:74309143 [GRCh37] Chr4:4q13.3	uncertain significance
NM_001134.3(AFP):c.799G>A (p.Glu267Lys)	single nucleotide variant	not specified [RCV004912076]	Chr4:73445078 [GRCh38] Chr4:74310795 [GRCh37] Chr4:4q13.3	uncertain significance
NM_001134.3(AFP):c.1768G>T (p.Val590Phe)	single nucleotide variant	not specified [RCV004920247]	Chr4:73453880 [GRCh38] Chr4:74319597 [GRCh37] Chr4:4q13.3	uncertain significance
NM_001134.3(AFP):c.32T>C (p.Phe11Ser)	single nucleotide variant	not specified [RCV004920251]	Chr4:73436294 [GRCh38] Chr4:74302011 [GRCh37] Chr4:4q13.3	uncertain significance
NM_001134.3(AFP):c.1404A>C (p.Lys468Asn)	single nucleotide variant	not specified [RCV004920252]	Chr4:73450729 [GRCh38] Chr4:74316446 [GRCh37] Chr4:4q13.3	uncertain significance
NM_001134.3(AFP):c.1571C>T (p.Pro524Leu)	single nucleotide variant	not specified [RCV004920253]	Chr4:73452543 [GRCh38] Chr4:74318260 [GRCh37] Chr4:4q13.3	uncertain significance
NM_001134.3(AFP):c.1181A>C (p.Gln394Pro)	single nucleotide variant	not specified [RCV004920266]	Chr4:73449457 [GRCh38] Chr4:74315174 [GRCh37] Chr4:4q13.3	uncertain significance
NM_001134.3(AFP):c.146T>C (p.Ile49Thr)	single nucleotide variant	not specified [RCV004920258]	Chr4:73438182 [GRCh38] Chr4:74303899 [GRCh37] Chr4:4q13.3	uncertain significance
NM_001134.3(AFP):c.1512A>G (p.Ser504=)	single nucleotide variant	not provided [RCV005244557]	Chr4:73452484 [GRCh38] Chr4:74318201 [GRCh37] Chr4:4q13.3	likely benign
NM_001134.3(AFP):c.142A>G (p.Thr48Ala)	single nucleotide variant	not specified [RCV005333954]	Chr4:73438178 [GRCh38] Chr4:74303895 [GRCh37] Chr4:4q13.3	uncertain significance
NM_001134.3(AFP):c.1046T>G (p.Ile349Ser)	single nucleotide variant	not specified [RCV005333982]	Chr4:73447664 [GRCh38] Chr4:74313381 [GRCh37] Chr4:4q13.3	uncertain significance
NM_001134.3(AFP):c.1813G>T (p.Ala605Ser)	single nucleotide variant	not specified [RCV005333969]	Chr4:73455263 [GRCh38] Chr4:74320980 [GRCh37] Chr4:4q13.3	uncertain significance
NM_001134.3(AFP):c.989T>C (p.Leu330Pro)	single nucleotide variant	not specified [RCV005333962]	Chr4:73447607 [GRCh38] Chr4:74313324 [GRCh37] Chr4:4q13.3	uncertain significance
NM_001134.3(AFP):c.350G>C (p.Ser117Thr)	single nucleotide variant	not specified [RCV005333989]	Chr4:73440681 [GRCh38] Chr4:74306398 [GRCh37] Chr4:4q13.3	uncertain significance
NM_001134.3(AFP):c.966_968del (p.Lys322_Pro323delinsAsn)	deletion	Alpha-fetoprotein, hereditary persistence of [RCV005360140]	Chr4:73447584..73447586 [GRCh38] Chr4:74313301..74313303 [GRCh37] Chr4:4q13.3	uncertain significance
NM_001134.3(AFP):c.434T>A (p.Val145Asp)	single nucleotide variant	not specified [RCV005333975]	Chr4:73440765 [GRCh38] Chr4:74306482 [GRCh37] Chr4:4q13.3	uncertain significance
NM_001134.3(AFP):c.778C>G (p.Leu260Val)	single nucleotide variant	Alpha-fetoprotein, hereditary persistence of [RCV005360139]	Chr4:73445057 [GRCh38] Chr4:74310774 [GRCh37] Chr4:4q13.3	uncertain significance
NM_001134.3(AFP):c.64C>A (p.His22Asn)	single nucleotide variant	Alpha-fetoprotein, hereditary persistence of [RCV005360134]	Chr4:73436326 [GRCh38] Chr4:74302043 [GRCh37] Chr4:4q13.3	uncertain significance
NM_001134.3(AFP):c.758C>G (p.Thr253Ser)	single nucleotide variant	Alpha-fetoprotein, hereditary persistence of [RCV005360136]	Chr4:73445037 [GRCh38] Chr4:74310754 [GRCh37] Chr4:4q13.3	uncertain significance
NM_001134.3(AFP):c.1093C>T (p.Leu365Phe)	single nucleotide variant	not specified [RCV005333948]	Chr4:73449369 [GRCh38] Chr4:74315086 [GRCh37] Chr4:4q13.3	uncertain significance

miRNA Target Status (No longer updated)

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.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
628371445	GWAS2292289_H	alpha-fetoprotein level QTL GWAS2292289 (human)		6e-233	alpha-fetoprotein level		4	73437153	73437154	Human
628897657	GWAS2805886_H	serum albumin amount QTL GWAS2805886 (human)		6e-09	serum albumin amount		4	73455648	73455649	Human
407327617	GWAS976593_H	serum albumin measurement QTL GWAS976593 (human)		6e-09	serum albumin measurement		4	73455648	73455649	Human
598066925	GWAS1786224_H	body height QTL GWAS1786224 (human)		1e-23	body height		4	73455883	73455884	Human
628900854	GWAS2809083_H	serum albumin amount QTL GWAS2809083 (human)		4e-17	serum albumin amount		4	73455648	73455649	Human
616495477	GWAS1892060_H	alpha-fetoprotein amount QTL GWAS1892060 (human)		1e-09	alpha-fetoprotein amount		4	73437153	73437154	Human
597276178	GWAS1372252_H	serum albumin measurement QTL GWAS1372252 (human)		3e-11	serum albumin measurement		4	73452783	73452784	Human
629004214	GWAS2912443_H	body height QTL GWAS2912443 (human)		1e-23	body height		4	73455883	73455884	Human
628904944	GWAS2813173_H	alpha-fetoprotein level QTL GWAS2813173 (human)		1e-237	alpha-fetoprotein level		4	73448932	73448933	Human
616550254	GWAS1946837_H	alpha-fetoprotein amount QTL GWAS1946837 (human)		6e-233	alpha-fetoprotein amount		4	73437153	73437154	Human
598062772	GWAS1782071_H	serum albumin amount QTL GWAS1782071 (human)		6e-09	serum albumin amount		4	73455648	73455649	Human
406935314	GWAS584290_H	alpha fetoprotein measurement QTL GWAS584290 (human)		7e-198	alpha fetoprotein measurement		4	73437153	73437154	Human
406968533	GWAS617509_H	protein measurement QTL GWAS617509 (human)		3e-29	protein measurement		4	73447336	73447337	Human
598062449	GWAS1781748_H	serum albumin amount QTL GWAS1781748 (human)		3e-11	serum albumin amount		4	73452783	73452784	Human
628366124	GWAS2286968_H	alpha-fetoprotein level QTL GWAS2286968 (human)		7e-198	alpha-fetoprotein level		4	73437153	73437154	Human
628807073	GWAS2715302_H	protein measurement QTL GWAS2715302 (human)		3e-29	protein amount (VT:0010120)		4	73447336	73447337	Human
628698213	GWAS2606442_H	alpha-fetoprotein level QTL GWAS2606442 (human)		6e-233	alpha-fetoprotein level		4	73437153	73437154	Human
616514339	GWAS1910922_H	alpha-fetoprotein amount QTL GWAS1910922 (human)		1e-237	alpha-fetoprotein amount		4	73448932	73448933	Human
597511873	GWAS1607947_H	serum albumin measurement QTL GWAS1607947 (human)		6e-09	serum albumin measurement		4	73455648	73455649	Human
407022943	GWAS671919_H	cancer biomarker measurement QTL GWAS671919 (human)		3e-18	cancer biomarker measurement		4	73453566	73453567	Human
616498656	GWAS1895239_H	alpha-fetoprotein amount QTL GWAS1895239 (human)		7e-198	alpha-fetoprotein amount		4	73437153	73437154	Human
407281639	GWAS930615_H	body height QTL GWAS930615 (human)		1e-23	body height		4	73455883	73455884	Human
597168634	GWAS1264708_H	serum albumin measurement QTL GWAS1264708 (human)		4e-09	serum albumin measurement		4	73456063	73456064	Human
407228129	GWAS877105_H	serum albumin measurement QTL GWAS877105 (human)		4e-17	serum albumin measurement		4	73455648	73455649	Human
407329248	GWAS978224_H	alpha fetoprotein measurement QTL GWAS978224 (human)		1e-237	alpha fetoprotein measurement		4	73448932	73448933	Human
597202608	GWAS1298682_H	alpha fetoprotein measurement QTL GWAS1298682 (human)		7e-198	alpha fetoprotein measurement		4	73437153	73437154	Human
628837587	GWAS2745816_H	1,3,7-trimethylurate measurement QTL GWAS2745816 (human)		0.00001	1,3,7-trimethylurate measurement		4	73455292	73455293	Human
598091534	GWAS1810833_H	serum albumin amount QTL GWAS1810833 (human)		4e-09	serum albumin amount		4	73456063	73456064	Human
597172721	GWAS1268795_H	protein measurement QTL GWAS1268795 (human)		3e-29	protein measurement		4	73447336	73447337	Human
597489654	GWAS1585728_H	serum albumin measurement QTL GWAS1585728 (human)		4e-17	serum albumin measurement		4	73455648	73455649	Human
597352816	GWAS1448890_H	body height QTL GWAS1448890 (human)		1e-23	body height		4	73455883	73455884	Human
628613980	GWAS2522209_H	serum albumin amount QTL GWAS2522209 (human)		4e-09	serum albumin amount		4	73456063	73456064	Human
407361131	GWAS1010107_H	alpha fetoprotein measurement QTL GWAS1010107 (human)		1e-09	alpha fetoprotein measurement		4	73437153	73437154	Human
407229163	GWAS878139_H	serum albumin measurement QTL GWAS878139 (human)		3e-11	serum albumin measurement		4	73452783	73452784	Human
628369627	GWAS2290471_H	alpha-fetoprotein level QTL GWAS2290471 (human)		1e-237	alpha-fetoprotein level		4	73448932	73448933	Human
597375092	GWAS1471166_H	cancer biomarker measurement QTL GWAS1471166 (human)		3e-18	cancer biomarker measurement		4	73453566	73453567	Human
597159524	GWAS1255598_H	1,3,7-trimethylurate measurement QTL GWAS1255598 (human)		0.00001	1,3,7-trimethylurate measurement		4	73455292	73455293	Human
598063185	GWAS1782484_H	serum albumin amount QTL GWAS1782484 (human)		4e-17	serum albumin amount		4	73455648	73455649	Human
628371713	GWAS2292557_H	alpha-fetoprotein level QTL GWAS2292557 (human)		1e-09	alpha-fetoprotein level		4	73437153	73437154	Human
407236912	GWAS885888_H	1,3,7-trimethylurate measurement QTL GWAS885888 (human)		0.00001	1,3,7-trimethylurate measurement		4	73455292	73455293	Human
628672847	GWAS2581076_H	alpha-fetoprotein level QTL GWAS2581076 (human)		1e-09	alpha-fetoprotein level		4	73437153	73437154	Human
597138415	GWAS1234489_H	alpha fetoprotein measurement QTL GWAS1234489 (human)		1e-237	alpha fetoprotein measurement		4	73448932	73448933	Human
628900865	GWAS2809094_H	serum albumin amount QTL GWAS2809094 (human)		3e-11	serum albumin amount		4	73452783	73452784	Human
597347940	GWAS1444014_H	alpha fetoprotein measurement QTL GWAS1444014 (human)		1e-09	alpha fetoprotein measurement		4	73437153	73437154	Human
407237498	GWAS886474_H	serum albumin measurement QTL GWAS886474 (human)		4e-09	serum albumin measurement		4	73456063	73456064	Human

Markers in Region

SHGC-59540

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	74,320,868 - 74,321,200	UniSTS	GRCh37
Build 36	4	74,539,732 - 74,540,064	RGD	NCBI36
Celera	4	71,680,616 - 71,680,948	RGD
Cytogenetic Map	4	q13.3	UniSTS
HuRef	4	70,132,338 - 70,132,670	UniSTS
GeneMap99-GB4 RH Map	4	426.08	UniSTS

SHGC-107546

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	74,320,865 - 74,321,202	UniSTS	GRCh37
Build 36	4	74,539,729 - 74,540,066	RGD	NCBI36
Celera	4	71,680,613 - 71,680,950	RGD
Cytogenetic Map	4	q13.3	UniSTS
HuRef	4	70,132,335 - 70,132,672	UniSTS
TNG Radiation Hybrid Map	4	42857.0	UniSTS

D4S3144

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	74,321,357 - 74,321,476	UniSTS	GRCh37
Build 36	4	74,540,221 - 74,540,340	RGD	NCBI36
Celera	4	71,681,105 - 71,681,224	RGD
Cytogenetic Map	4	q13.3	UniSTS
HuRef	4	70,132,827 - 70,132,946	UniSTS
TNG Radiation Hybrid Map	4	43056.0	UniSTS
Stanford-G3 RH Map	4	4122.0	UniSTS
GeneMap99-G3 RH Map	4	4106.0	UniSTS

SHGC-67270

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	74,321,005 - 74,321,203	UniSTS	GRCh37
Build 36	4	74,539,869 - 74,540,067	RGD	NCBI36
Celera	4	71,680,753 - 71,680,951	RGD
Cytogenetic Map	4	q13.3	UniSTS
HuRef	4	70,132,475 - 70,132,673	UniSTS
GeneMap99-GB4 RH Map	4	424.02	UniSTS

SHGC-50928

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	74,301,214 - 74,301,460	UniSTS	GRCh37
Build 36	4	74,520,078 - 74,520,324	RGD	NCBI36
Celera	4	71,661,026 - 71,661,272	RGD
Cytogenetic Map	4	q13.3	UniSTS
HuRef	4	70,112,748 - 70,112,994	UniSTS
TNG Radiation Hybrid Map	4	43011.0	UniSTS

MARC_3052-3053:991936680:1

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	74,315,771 - 74,316,367	UniSTS	GRCh37
Build 36	4	74,534,635 - 74,535,231	RGD	NCBI36
Celera	4	71,675,519 - 71,676,115	RGD
HuRef	4	70,127,241 - 70,127,837	UniSTS

MARC_15793-15794:1013620256:1

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	74,315,119 - 74,315,795	UniSTS	GRCh37
Celera	4	71,674,867 - 71,675,543	UniSTS
HuRef	4	70,126,589 - 70,127,265	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

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

Nucleotide Sequences


RefSeq Transcripts	NG_023028	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001134	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001354717	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC108157	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF484525	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF484526	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AH002593	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI336986	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK297669	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK297674	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK314817	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC027881	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471057	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068274	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	M16110	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	V01514	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000226359 ⟹ ENSP00000226359

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	73,436,247 - 73,455,743 (+)	Ensembl

Ensembl Acc Id:

ENST00000395792 ⟹ ENSP00000379138

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	73,436,221 - 73,456,174 (+)	Ensembl

Ensembl Acc Id:

ENST00000506820

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	73,453,490 - 73,455,777 (+)	Ensembl

Ensembl Acc Id:

ENST00000508838

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	73,450,549 - 73,455,741 (+)	Ensembl

Ensembl Acc Id:

ENST00000513720

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	73,431,138 - 73,437,210 (+)	Ensembl

Ensembl Acc Id:

ENST00000514279

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	73,452,400 - 73,455,570 (+)	Ensembl

Ensembl Acc Id:

ENST00000515675

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	73,431,159 - 73,437,210 (+)	Ensembl

RefSeq Acc Id:

NM_001134 ⟹ NP_001125

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	73,436,221 - 73,456,174 (+)	NCBI
GRCh37	4	74,301,933 - 74,321,492 (+)	ENTREZGENE
Build 36	4	74,520,797 - 74,540,356 (+)	NCBI Archive
HuRef	4	70,113,470 - 70,132,972 (+)	NCBI
CHM1_1	4	74,338,125 - 74,357,625 (+)	NCBI
T2T-CHM13v2.0	4	76,779,943 - 76,799,830 (+)	NCBI

Sequence:

show sequence

ATTGTGCTTCCACCACTGCCAATAACAAAATAACTAGCAACCATGAAGTGGGTGGAATCAATTT
TTTTAATTTTCCTACTAAATTTTACTGAATCCAGAACACTGCATAGAAATGAATATGGAATAGC
TTCCATATTGGATTCTTACCAATGTACTGCAGAGATAAGTTTAGCTGACCTGGCTACCATATTT
TTTGCCCAGTTTGTTCAAGAAGCCACTTACAAGGAAGTAAGCAAAATGGTGAAAGATGCATTGA
CTGCAATTGAGAAACCCACTGGAGATGAACAGTCTTCAGGGTGTTTAGAAAACCAGCTACCTGC
CTTTCTGGAAGAACTTTGCCATGAGAAAGAAATTTTGGAGAAGTACGGACATTCAGACTGCTGC
AGCCAAAGTGAAGAGGGAAGACATAACTGTTTTCTTGCACACAAAAAGCCCACTCCAGCATCGA
TCCCACTTTTCCAAGTTCCAGAACCTGTCACAAGCTGTGAAGCATATGAAGAAGACAGGGAGAC
ATTCATGAACAAATTCATTTATGAGATAGCAAGAAGGCATCCCTTCCTGTATGCACCTACAATT
CTTCTTTGGGCTGCTCGCTATGACAAAATAATTCCATCTTGCTGCAAAGCTGAAAATGCAGTTG
AATGCTTCCAAACAAAGGCAGCAACAGTTACAAAAGAATTAAGAGAAAGCAGCTTGTTAAATCA
ACATGCATGTGCAGTAATGAAAAATTTTGGGACCCGAACTTTCCAAGCCATAACTGTTACTAAA
CTGAGTCAGAAGTTTACCAAAGTTAATTTTACTGAAATCCAGAAACTAGTCCTGGATGTGGCCC
ATGTACATGAGCACTGTTGCAGAGGAGATGTGCTGGATTGTCTGCAGGATGGGGAAAAAATCAT
GTCCTACATATGTTCTCAACAAGACACTCTGTCAAACAAAATAACAGAATGCTGCAAACTGACC
ACGCTGGAACGTGGTCAATGTATAATTCATGCAGAAAATGATGAAAAACCTGAAGGTCTATCTC
CAAATCTAAACAGGTTTTTAGGAGATAGAGATTTTAACCAATTTTCTTCAGGGGAAAAAAATAT
CTTCTTGGCAAGTTTTGTTCATGAATATTCAAGAAGACATCCTCAGCTTGCTGTCTCAGTAATT
CTAAGAGTTGCTAAAGGATACCAGGAGTTATTGGAGAAGTGTTTCCAGACTGAAAACCCTCTTG
AATGCCAAGATAAAGGAGAAGAAGAATTACAGAAATACATCCAGGAGAGCCAAGCATTGGCAAA
GCGAAGCTGCGGCCTCTTCCAGAAACTAGGAGAATATTACTTACAAAATGCGTTTCTCGTTGCT
TACACAAAGAAAGCCCCCCAGCTGACCTCGTCGGAGCTGATGGCCATCACCAGAAAAATGGCAG
CCACAGCAGCCACTTGTTGCCAACTCAGTGAGGACAAACTATTGGCCTGTGGCGAGGGAGCGGC
TGACATTATTATCGGACACTTATGTATCAGACATGAAATGACTCCAGTAAACCCTGGTGTTGGC
CAGTGCTGCACTTCTTCATATGCCAACAGGAGGCCATGCTTCAGCAGCTTGGTGGTGGATGAAA
CATATGTCCCTCCTGCATTCTCTGATGACAAGTTCATTTTCCATAAGGATCTGTGCCAAGCTCA
GGGTGTAGCGCTGCAAACAATGAAGCAAGAGTTTCTCATTAACCTTGTGAAGCAAAAGCCACAA
ATAACAGAGGAACAACTTGAGGCTGTCATTGCAGATTTCTCAGGCCTGTTGGAGAAATGCTGCC
AAGGCCAGGAACAGGAAGTCTGCTTTGCTGAAGAGGGACAAAAACTGATTTCAAAAACTCGTGC
TGCTTTGGGAGTTTAAATTACTTCAGGGGAAGAGAAGACAAAACGAGTCTTTCATTCGGTGTGA
ACTTTTCTCTTTAATTTTAACTGATTTAACACTTTTTGTGAATTAATGAAATGATAAAGACTTT
TATGTGAGATTTCCTTATCACAGAAATAAAATATCTCCAAATGTTTCCTTTTCCAAGTTTGCTT
ATTTATGAAAAGTTATCGATAATTTCTTTAGTTTTGTATACCATTGTCTGAAGCAGATTCTGTT
AAAATAGCATTAAGTGTTGGTTATTATAGGAGATTAAAGCTATCCAAGGATGGATTTACAGCAC
TAGATCACTTGGTGAACTGAAAAATGTTCCCAAGTTAAACACTATTTGATGCTACCAGGGCATT
TTGTTTATTAAATGACCATCACTGAAGTATTCTAACAGATAATCTGGAGATGAGAAAAGAAATT
ATTATTCTTCTATGGGATCTAAGAAAATTTAACATCTACTTTTTTTCTCAATCTTGTTCAGTTC
TCTATTCACAGACATTTTAAAACATAAGAATATTACAGTTTTGATTGAATATAATTAA

hide sequence

RefSeq Acc Id:

NM_001354717 ⟹ NP_001341646

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	73,436,221 - 73,456,174 (+)	NCBI
T2T-CHM13v2.0	4	76,779,943 - 76,799,830 (+)	NCBI

Sequence:

show sequence

ATTGTGCTTCCACCACTGCCAATAACAAAATAACTAGCAACCATGAAGTGGGTGGAATCAATTT
TTTTAATTTTCCTACTAAATTTTACTGAATCCAGAACACTGCATAGAAATGAATATGGAATAGC
TTCCATATTGGATTCTTACCAATGTACTGCAGAGATAAGTTTAGCTGACCTGGCTACCATATTT
TTTGCCCAGTTTGTTCAAGAAGCCACTTACAAGGAAGTAAGCAAAATGGTGAAAGATGCATTGA
CTGCAATTGAGAAACCCACTGGAGATGAACAGTCTTCAGGGTGTTTAGAAAACCAGCTACCTGC
CTTTCTGGAAGAACTTTGCCATGAGAAAGAAATTTTGGAGAAGTACGGACATTCATGAACAAAT
TCATTTATGAGATAGCAAGAAGGCATCCCTTCCTGTATGCACCTACAATTCTTCTTTGGGCTGC
TCGCTATGACAAAATAATTCCATCTTGCTGCAAAGCTGAAAATGCAGTTGAATGCTTCCAAACA
AAGGCAGCAACAGTTACAAAAGAATTAAGAGAAAGCAGCTTGTTAAATCAACATGCATGTGCAG
TAATGAAAAATTTTGGGACCCGAACTTTCCAAGCCATAACTGTTACTAAACTGAGTCAGAAGTT
TACCAAAGTTAATTTTACTGAAATCCAGAAACTAGTCCTGGATGTGGCCCATGTACATGAGCAC
TGTTGCAGAGGAGATGTGCTGGATTGTCTGCAGGATGGGGAAAAAATCATGTCCTACATATGTT
CTCAACAAGACACTCTGTCAAACAAAATAACAGAATGCTGCAAACTGACCACGCTGGAACGTGG
TCAATGTATAATTCATGCAGAAAATGATGAAAAACCTGAAGGTCTATCTCCAAATCTAAACAGG
TTTTTAGGAGATAGAGATTTTAACCAATTTTCTTCAGGGGAAAAAAATATCTTCTTGGCAAGTT
TTGTTCATGAATATTCAAGAAGACATCCTCAGCTTGCTGTCTCAGTAATTCTAAGAGTTGCTAA
AGGATACCAGGAGTTATTGGAGAAGTGTTTCCAGACTGAAAACCCTCTTGAATGCCAAGATAAA
GGAGAAGAAGAATTACAGAAATACATCCAGGAGAGCCAAGCATTGGCAAAGCGAAGCTGCGGCC
TCTTCCAGAAACTAGGAGAATATTACTTACAAAATGCGTTTCTCGTTGCTTACACAAAGAAAGC
CCCCCAGCTGACCTCGTCGGAGCTGATGGCCATCACCAGAAAAATGGCAGCCACAGCAGCCACT
TGTTGCCAACTCAGTGAGGACAAACTATTGGCCTGTGGCGAGGGAGCGGCTGACATTATTATCG
GACACTTATGTATCAGACATGAAATGACTCCAGTAAACCCTGGTGTTGGCCAGTGCTGCACTTC
TTCATATGCCAACAGGAGGCCATGCTTCAGCAGCTTGGTGGTGGATGAAACATATGTCCCTCCT
GCATTCTCTGATGACAAGTTCATTTTCCATAAGGATCTGTGCCAAGCTCAGGGTGTAGCGCTGC
AAACAATGAAGCAAGAGTTTCTCATTAACCTTGTGAAGCAAAAGCCACAAATAACAGAGGAACA
ACTTGAGGCTGTCATTGCAGATTTCTCAGGCCTGTTGGAGAAATGCTGCCAAGGCCAGGAACAG
GAAGTCTGCTTTGCTGAAGAGGGACAAAAACTGATTTCAAAAACTCGTGCTGCTTTGGGAGTTT
AAATTACTTCAGGGGAAGAGAAGACAAAACGAGTCTTTCATTCGGTGTGAACTTTTCTCTTTAA
TTTTAACTGATTTAACACTTTTTGTGAATTAATGAAATGATAAAGACTTTTATGTGAGATTTCC
TTATCACAGAAATAAAATATCTCCAAATGTTTCCTTTTCCAAGTTTGCTTATTTATGAAAAGTT
ATCGATAATTTCTTTAGTTTTGTATACCATTGTCTGAAGCAGATTCTGTTAAAATAGCATTAAG
TGTTGGTTATTATAGGAGATTAAAGCTATCCAAGGATGGATTTACAGCACTAGATCACTTGGTG
AACTGAAAAATGTTCCCAAGTTAAACACTATTTGATGCTACCAGGGCATTTTGTTTATTAAATG
ACCATCACTGAAGTATTCTAACAGATAATCTGGAGATGAGAAAAGAAATTATTATTCTTCTATG
GGATCTAAGAAAATTTAACATCTACTTTTTTTCTCAATCTTGTTCAGTTCTCTATTCACAGACA
TTTTAAAACATAAGAATATTACAGTTTTGATTGAATATAATTAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001125	(Get FASTA)	NCBI Sequence Viewer
	NP_001341646	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA51674	(Get FASTA)	NCBI Sequence Viewer
	AAA51675	(Get FASTA)	NCBI Sequence Viewer
	AAH27881	(Get FASTA)	NCBI Sequence Viewer
	BAG37340	(Get FASTA)	NCBI Sequence Viewer
	BAG60031	(Get FASTA)	NCBI Sequence Viewer
	BAG60036	(Get FASTA)	NCBI Sequence Viewer
	CAA24758	(Get FASTA)	NCBI Sequence Viewer
	EAX05681	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000379138
	ENSP00000379138.2
GenBank Protein	P02771	(Get FASTA)	NCBI Sequence Viewer

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:	show sequence MKWVESIFLIFLLNFTESRTLHRNEYGIASILDSYQCTAEISLADLATIFFAQFVQEATYKEVS KMVKDALTAIEKPTGDEQSSGCLENQLPAFLEELCHEKEILEKYGHSDCCSQSEEGRHNCFLAH KKPTPASIPLFQVPEPVTSCEAYEEDRETFMNKFIYEIARRHPFLYAPTILLWAARYDKIIPSC CKAENAVECFQTKAATVTKELRESSLLNQHACAVMKNFGTRTFQAITVTKLSQKFTKVNFTEIQ KLVLDVAHVHEHCCRGDVLDCLQDGEKIMSYICSQQDTLSNKITECCKLTTLERGQCIIHAEND EKPEGLSPNLNRFLGDRDFNQFSSGEKNIFLASFVHEYSRRHPQLAVSVILRVAKGYQELLEKC FQTENPLECQDKGEEELQKYIQESQALAKRSCGLFQKLGEYYLQNAFLVAYTKKAPQLTSSELM AITRKMAATAATCCQLSEDKLLACGEGAADIIIGHLCIRHEMTPVNPGVGQCCTSSYANRRPCF SSLVVDETYVPPAFSDDKFIFHKDLCQAQGVALQTMKQEFLINLVKQKPQITEEQLEAVIADFS GLLEKCCQGQEQEVCFAEEGQKLISKTRAALGV hide sequence

RefSeq Acc Id:	NP_001341646 ⟸ NM_001354717
- Peptide Label:	isoform 2
- UniProtKB:	B4DMX4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MNKFIYEIARRHPFLYAPTILLWAARYDKIIPSCCKAENAVECFQTKAATVTKELRESSLLNQH ACAVMKNFGTRTFQAITVTKLSQKFTKVNFTEIQKLVLDVAHVHEHCCRGDVLDCLQDGERIMS YICSQQDTLSNKITECCKLTTLERGQCIIHAENDEKPEGLSPNLNRFLGDRDFNQFSSGEKNIF LASFVHEYSRRHPQLAVSVILRVAKGYQELLEKCFQTENPLECQDKGEEELQKYIQESQALAKR SCGLFQKLGEYYLQNAFLVAYTKKAPQLTSSELMAITRKMAATAATCCQLSEDKLLACGEGAAD IIIGHLCIRHEMTPVNPGVGQCCTSSYANRRPCFSSLVVDETYVPPAFSDDKFIFHKDLCQAQG VALQTMKQEFLINLVKQKPQITEEQLEAVIADFSGLLEKCCQGQEQEVCFAEEGQKLISKTRAA LGV hide 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 Assembly	Chr	Position (strand)	Source
GRCh38	4	73,436,224 - 73,436,284	EPDNEW

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 Assembly	Chr	Position (strand)	Source
Build 36	4	74,520,800 - 74,520,860	EPD

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 Assembly	Chr	Position (strand)	Source
Build 36	4	74,534,971 - 74,535,471 (+)	MPROMDB

Additional Information

External Database Links

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

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - PID (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

Send us a Message

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - PID (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar