FGF8 (fibroblast growth factor 8) - Rat Genome Database

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Gene: FGF8 (fibroblast growth factor 8) Homo sapiens
Analyze
Symbol: FGF8
Name: fibroblast growth factor 8
RGD ID: 733956
HGNC Page HGNC
Description: Enables growth factor activity; type 1 fibroblast growth factor receptor binding activity; and type 2 fibroblast growth factor receptor binding activity. Involved in several processes, including animal organ development; dopaminergic neuron differentiation; and negative regulation of cardiac muscle tissue development. Acts upstream of or within fibroblast growth factor receptor signaling pathway. Located in extracellular space. Implicated in hypogonadotropic hypogonadism 6 with or without anosmia and prostate carcinoma in situ. Biomarker of breast cancer; choriocarcinoma; embryonal carcinoma; endodermal sinus tumor; and prostatic hypertrophy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AIGF; androgen-induced growth factor; FGF-8; fibroblast growth factor 8 (androgen-induced); HBGF-8; heparin-binding growth factor 8; HH6; KAL6; MGC149376
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl10101,770,109 - 101,780,371 (-)EnsemblGRCh38hg38GRCh38
GRCh3810101,770,109 - 101,780,369 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3710103,529,866 - 103,540,126 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3610103,519,877 - 103,525,817 (-)NCBINCBI36hg18NCBI36
Build 3410103,519,876 - 103,525,817NCBI
Celera1097,268,628 - 97,274,500 (-)NCBI
Cytogenetic Map10q24.32NCBI
HuRef1097,160,317 - 97,170,664 (-)NCBIHuRef
CHM1_110103,813,541 - 103,823,715 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
anatomical structure morphogenesis  (NAS)
animal organ morphogenesis  (IBA)
aorta morphogenesis  (IEA,ISO)
blood vessel remodeling  (IEA,ISO)
bone development  (IMP)
branching involved in blood vessel morphogenesis  (IEA,ISO)
branching involved in salivary gland morphogenesis  (IEA,ISO)
branching involved in ureteric bud morphogenesis  (IEA,ISO)
cell differentiation  (IBA)
cell fate commitment  (IEA,ISO)
cell migration involved in mesendoderm migration  (IEA,ISO)
cell proliferation in forebrain  (IEA,ISO)
central nervous system neuron development  (ISO)
corticotropin hormone secreting cell differentiation  (IEA,ISO)
determination of left/right symmetry  (ISO)
dopaminergic neuron differentiation  (IDA,TAS)
dorsal/ventral axon guidance  (IEA,ISO)
dorsal/ventral pattern formation  (IBA)
embryo development ending in birth or egg hatching  (ISO)
embryonic heart tube development  (IBA,ISO)
embryonic hindlimb morphogenesis  (IEA,ISO)
embryonic neurocranium morphogenesis  (IEA,ISO)
epithelial to mesenchymal transition involved in endocardial cushion formation  (ISO,ISS)
fibroblast growth factor receptor signaling pathway  (IBA,IEA,IGI,TAS)
forebrain dorsal/ventral pattern formation  (IEA,ISO)
forebrain morphogenesis  (IEA,ISO)
forebrain neuron development  (IEA,ISO)
gastrulation  (NAS)
generation of neurons  (ISO)
gonad development  (IMP)
heart development  (ISO)
heart looping  (IEA,ISO)
heart morphogenesis  (IBA,ISO)
inner ear morphogenesis  (ISO)
kidney development  (ISO)
larynx morphogenesis  (IEA,ISO)
limb morphogenesis  (IBA,ISO)
lung development  (ISO)
lung morphogenesis  (IEA,ISO)
male genitalia development  (IEA,ISO)
MAPK cascade  (IEA,ISO)
mesodermal cell migration  (IEA,ISO)
mesonephros development  (IEP)
metanephros development  (IEP)
midbrain-hindbrain boundary development  (IEA,ISO)
motor neuron axon guidance  (IEA,ISO)
negative regulation of apoptotic process  (ISO)
negative regulation of cardiac muscle tissue development  (IMP)
negative regulation of neuron apoptotic process  (IEA,ISO)
neural plate morphogenesis  (IEA,ISO)
neuroepithelial cell differentiation  (IDA)
neuron differentiation  (IBA)
odontogenesis  (IEP,ISO)
organ induction  (IEA,ISO)
otic vesicle formation  (IEA,ISO)
outflow tract morphogenesis  (ISO)
outflow tract septum morphogenesis  (ISS)
pallium development  (IEA,ISO)
pharyngeal system development  (IEA,ISO)
positive chemotaxis  (IEA)
positive regulation of cell differentiation  (TAS)
positive regulation of cell division  (IEA)
positive regulation of cell population proliferation  (IBA,IDA,ISO)
positive regulation of ERK1 and ERK2 cascade  (IEA,ISO)
positive regulation of G protein-coupled receptor signaling pathway  (IEA,ISO)
positive regulation of gene expression  (IBA,ISO,TAS)
positive regulation of mitotic nuclear division  (IEA,ISO)
positive regulation of organ growth  (IEA,ISO)
positive regulation of peptidyl-tyrosine phosphorylation  (IEA,ISO)
positive regulation of protein phosphorylation  (IBA)
regulation of cell migration  (IBA)
regulation of odontogenesis of dentin-containing tooth  (IEA,ISO)
response to organic cyclic compound  (IEA,ISO)
response to oxidative stress  (IEA,ISO)
response to xenobiotic stimulus  (IEA,ISO)
signal transduction  (IEA)
signal transduction involved in regulation of gene expression  (IEA,ISO)
subpallium development  (IEA,ISO)
telencephalon development  (ISO)
thyroid gland development  (IEA,ISO)
thyroid-stimulating hormone-secreting cell differentiation  (IEA,ISO)

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal aortic morphology  (IAGP)
Abnormal brainstem morphology  (IAGP)
Abnormal corpus callosum morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal form of the vertebral bodies  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal heart rate variability  (IAGP)
Abnormal hypothalamus physiology  (IAGP)
Abnormal midbrain morphology  (IAGP)
Abnormal morphology of female internal genitalia  (IAGP)
Abnormal morphology of the olfactory bulb  (IAGP)
Abnormal pulmonary valve morphology  (IAGP)
Abnormal vertebral morphology  (IAGP)
Abnormality of body height  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Abnormality of neuronal migration  (IAGP)
Abnormality of the antihelix  (IAGP)
Abnormality of the autonomic nervous system  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the genitourinary system  (IAGP)
Abnormality of the ribs  (IAGP)
Abnormality of the septum pellucidum  (IAGP)
Abnormality of the spleen  (IAGP)
Abnormality of the voice  (IAGP)
Absence of pubertal development  (IAGP)
Absence of secondary sex characteristics  (IAGP)
Absent nares  (IAGP)
Absent speech  (IAGP)
Agenesis of corpus callosum  (IAGP)
Ambiguous genitalia  (IAGP)
Anophthalmia  (IAGP)
Anosmia  (IAGP)
Anterior hypopituitarism  (IAGP)
Anteriorly placed anus  (IAGP)
Anteverted nares  (IAGP)
Anxiety  (IAGP)
Apathy  (IAGP)
Aplasia of the falx cerebri  (IAGP)
Aplasia/Hypoplasia involving the nose  (IAGP)
Aplasia/Hypoplasia of the corpus callosum  (IAGP)
Aplasia/Hypoplasia of the lungs  (IAGP)
Arrhythmia  (IAGP)
Aspiration pneumonia  (IAGP)
Asthma  (IAGP)
Ataxia  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bifid uvula  (IAGP)
Bilateral cleft lip  (IAGP)
Bimanual synkinesia  (IAGP)
Blepharophimosis  (IAGP)
Brachydactyly  (IAGP)
Branchial anomaly  (IAGP)
Breast hypoplasia  (IAGP)
Broad philtrum  (IAGP)
Camptodactyly  (IAGP)
Central apnea  (IAGP)
Central diabetes insipidus  (IAGP)
Central hypothyroidism  (IAGP)
Cerebral visual impairment  (IAGP)
Choanal atresia  (IAGP)
Chorea  (IAGP)
Chorioretinal coloboma  (IAGP)
Chronic lung disease  (IAGP)
Cleft lip  (IAGP)
Cleft palate  (IAGP)
Coarctation of aorta  (IAGP)
Cognitive impairment  (IAGP)
Color vision defect  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Congenital sensorineural hearing impairment  (IAGP)
Constipation  (IAGP)
Cryptorchidism  (IAGP)
Cyclopia  (IAGP)
Dandy-Walker malformation  (IAGP)
Decreased fertility  (IAGP)
Decreased response to growth hormone stimuation test  (IAGP)
Decreased serum testosterone concentration  (IAGP)
Decreased testicular size  (IAGP)
Deep philtrum  (IAGP)
Deeply set eye  (IAGP)
Delayed puberty  (IAGP)
Delayed skeletal maturation  (IAGP)
Depressed nasal bridge  (IAGP)
Depressed nasal ridge  (IAGP)
Depressed nasal tip  (IAGP)
Depression  (IAGP)
Diabetes insipidus  (IAGP)
Diabetes mellitus  (IAGP)
Duodenal atresia  (IAGP)
Dysarthria  (IAGP)
Dyspareunia  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Encephalocele  (IAGP)
Epicanthus  (IAGP)
Erectile dysfunction  (IAGP)
Ethmoidal encephalocele  (IAGP)
Eunuchoid habitus  (IAGP)
Expressive language delay  (IAGP)
External ear malformation  (IAGP)
Failure to thrive  (IAGP)
Failure to thrive in infancy  (IAGP)
Feeding difficulties in infancy  (IAGP)
Female hypogonadism  (IAGP)
Flat occiput  (IAGP)
Flexion contracture  (IAGP)
Frontal bossing  (IAGP)
Gait disturbance  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Generalized hypotonia  (IAGP)
Generalized joint laxity  (IAGP)
Global developmental delay  (IAGP)
Gynecomastia  (IAGP)
Hand polydactyly  (IAGP)
Hemangioma  (IAGP)
High palate  (IAGP)
Highly arched eyebrow  (IAGP)
Hip dislocation  (IAGP)
Holoprosencephaly  (IAGP)
Hydrocephalus  (IAGP)
Hypertelorism  (IAGP)
Hypoglycemia  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hyponatremia  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the ovary  (IAGP)
Hypoplasia of the pons  (IAGP)
Hypoplasia of the uterus  (IAGP)
Hypoplasia of the zygomatic bone  (IAGP)
Hyposmia  (IAGP)
Hypotelorism  (IAGP)
Hypothalamic gonadotropin-releasing hormone deficiency  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Ichthyosis  (IAGP)
Impotence  (IAGP)
Impulsivity  (IAGP)
Inability to walk  (IAGP)
Increased female libido  (IAGP)
Infantile axial hypotonia  (IAGP)
Intellectual disability  (IAGP)
Intestinal atresia  (IAGP)
Intrauterine growth retardation  (IAGP)
Iris coloboma  (IAGP)
Irritability  (IAGP)
Joint hyperflexibility  (IAGP)
Lethargy  (IAGP)
Limb dystonia  (IAGP)
Macrocephaly  (IAGP)
Macrotia  (IAGP)
Male hypogonadism  (IAGP)
Maternal diabetes  (IAGP)
Median cleft lip  (IAGP)
Median cleft lip and palate  (IAGP)
Megalencephaly  (IAGP)
Microcephaly  (IAGP)
Micropenis  (IAGP)
Microphthalmia  (IAGP)
Midnasal stenosis  (IAGP)
Morphological abnormality of the gastrointestinal tract  (IAGP)
Muscle weakness  (IAGP)
Narrow nasal bridge  (IAGP)
Neural tube defect  (IAGP)
Non-obstructive azoospermia  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Omphalocele  (IAGP)
Optic atrophy  (IAGP)
Oromotor apraxia  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Panhypopituitarism  (IAGP)
Paraplegia  (IAGP)
Perisylvian polymicrogyria  (IAGP)
Pes cavus  (IAGP)
Pes planus  (IAGP)
Poor speech  (IAGP)
Poor suck  (IAGP)
Precocious puberty  (IAGP)
Premature birth  (IAGP)
Primary amenorrhea  (IAGP)
Proboscis  (IAGP)
Proteinuria  (IAGP)
Ptosis  (IAGP)
Recurrent fractures  (IAGP)
Reduced bone mineral density  (IAGP)
Renal agenesis  (IAGP)
Respiratory insufficiency  (IAGP)
Retinopathy  (IAGP)
Rhombencephalosynapsis  (IAGP)
Scoliosis  (IAGP)
Secondary amenorrhea  (IAGP)
Seizure  (IAGP)
Semilobar holoprosencephaly  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short attention span  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Single naris  (IAGP)
Skeletal dysplasia  (IAGP)
Sleep-wake cycle disturbance  (IAGP)
Small pituitary gland  (IAGP)
Solitary median maxillary central incisor  (IAGP)
Sparse body hair  (IAGP)
Spasticity  (IAGP)
Specific learning disability  (IAGP)
Spinal cord tumor  (IAGP)
Spinal dysraphism  (IAGP)
Strabismus  (IAGP)
Synophrys  (IAGP)
Talipes  (IAGP)
Temperature instability  (IAGP)
Tented upper lip vermilion  (IAGP)
Tetralogy of Fallot  (IAGP)
Thick eyebrow  (IAGP)
Tooth agenesis  (IAGP)
Tremor  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ventricular septal defect  (IAGP)
Visual impairment  (IAGP)
Vomiting  (IAGP)
Wide intermamillary distance  (IAGP)
References

Additional References at PubMed
PMID:7737407   PMID:8595889   PMID:8661131   PMID:8663044   PMID:8700553   PMID:8891346   PMID:9139660   PMID:9332670   PMID:10574949   PMID:10579907   PMID:10736564   PMID:10751172  
PMID:11021964   PMID:11294897   PMID:11341643   PMID:11358849   PMID:11420691   PMID:11953856   PMID:12054865   PMID:12140757   PMID:12477932   PMID:15146197   PMID:15193767   PMID:15199049  
PMID:15935652   PMID:16384934   PMID:16597617   PMID:16683270   PMID:17133345   PMID:17264867   PMID:17265164   PMID:17309880   PMID:17394220   PMID:17512240   PMID:17600781   PMID:18199118  
PMID:18386787   PMID:18437684   PMID:18596921   PMID:19415685   PMID:20301509   PMID:20301702   PMID:20463092   PMID:20634891   PMID:20702560   PMID:21034500   PMID:21048031   PMID:21076617  
PMID:21119603   PMID:21319186   PMID:21832120   PMID:21873635   PMID:22235191   PMID:22237711   PMID:22319038   PMID:22423049   PMID:23466786   PMID:23533228   PMID:23906837   PMID:23994638  
PMID:24431302   PMID:24464787   PMID:24849601   PMID:25131394   PMID:25241761   PMID:25473897   PMID:25911675   PMID:25912421   PMID:26931467   PMID:27237708   PMID:27273073   PMID:27402846  
PMID:28195315   PMID:28514442   PMID:28791365   PMID:28898437   PMID:29584859   PMID:29626475   PMID:29758290   PMID:29987050   PMID:30079292   PMID:30276721   PMID:31087283   PMID:31527546  
PMID:31637260   PMID:31718875   PMID:32664970   PMID:33019532   PMID:33649301  


Genomics

Comparative Map Data
FGF8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl10101,770,109 - 101,780,371 (-)EnsemblGRCh38hg38GRCh38
GRCh3810101,770,109 - 101,780,369 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3710103,529,866 - 103,540,126 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3610103,519,877 - 103,525,817 (-)NCBINCBI36hg18NCBI36
Build 3410103,519,876 - 103,525,817NCBI
Celera1097,268,628 - 97,274,500 (-)NCBI
Cytogenetic Map10q24.32NCBI
HuRef1097,160,317 - 97,170,664 (-)NCBIHuRef
CHM1_110103,813,541 - 103,823,715 (-)NCBICHM1_1
Fgf8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391945,724,930 - 45,731,506 (-)NCBIGRCm39mm39
GRCm39 Ensembl1945,725,237 - 45,731,354 (-)Ensembl
GRCm381945,736,491 - 45,742,941 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1945,736,798 - 45,742,915 (-)EnsemblGRCm38mm10GRCm38
MGSCv371945,811,288 - 45,817,374 (-)NCBIGRCm37mm9NCBIm37
MGSCv361945,790,129 - 45,796,184 (-)NCBImm8
Celera1946,499,127 - 46,505,223 (-)NCBICelera
Cytogenetic Map19C3NCBI
cM Map1938.75NCBI
Fgf8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21244,584,477 - 244,590,359 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1244,584,652 - 244,590,359 (-)Ensembl
Rnor_6.01265,492,949 - 265,498,965 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1265,493,124 - 265,498,831 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01272,923,589 - 272,929,296 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41250,951,023 - 250,956,730 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11251,211,591 - 251,217,299 (-)NCBI
Celera1240,393,901 - 240,399,608 (-)NCBICelera
Cytogenetic Map1q54NCBI
Fgf8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554858,517,412 - 8,521,770 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554858,517,412 - 8,521,732 (+)NCBIChiLan1.0ChiLan1.0
FGF8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.110101,844,792 - 101,849,873 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl10101,844,792 - 101,853,916 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01098,372,251 - 98,378,811 (-)NCBIMhudiblu_PPA_v0panPan3
FGF8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12814,362,407 - 14,367,109 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2814,362,109 - 14,367,468 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2814,530,980 - 14,536,626 (-)NCBI
ROS_Cfam_1.02814,830,423 - 14,836,072 (-)NCBI
UMICH_Zoey_3.12814,376,915 - 14,382,561 (-)NCBI
UNSW_CanFamBas_1.02814,416,494 - 14,421,136 (-)NCBI
UU_Cfam_GSD_1.02814,548,787 - 14,554,435 (-)NCBI
Fgf8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721332,401,605 - 32,407,401 (+)NCBI
SpeTri2.0NW_0049366004,004,847 - 4,010,626 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FGF8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14112,808,210 - 112,814,134 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114112,808,215 - 112,814,225 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214122,661,225 - 122,666,751 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FGF8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1994,797,157 - 94,803,725 (-)NCBI
ChlSab1.1 Ensembl994,798,088 - 94,803,629 (-)Ensembl
Vero_WHO_p1.0NW_02366604855,874,226 - 55,880,198 (-)NCBI
Fgf8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248311,251,991 - 1,259,247 (-)NCBI

Position Markers
RH18043  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710103,530,213 - 103,530,348UniSTSGRCh37
Build 3610103,520,203 - 103,520,338RGDNCBI36
Celera1097,268,954 - 97,269,089RGD
Cytogenetic Map10q24UniSTS
HuRef1097,160,642 - 97,160,777UniSTS
GeneMap99-GB4 RH Map10482.2UniSTS
NCBI RH Map101103.2UniSTS
D1Bda63  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710103,530,105 - 103,530,326UniSTSGRCh37
Build 3610103,520,095 - 103,520,316RGDNCBI36
Celera1097,268,846 - 97,269,067RGD
HuRef1097,160,534 - 97,160,755UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2544
Count of miRNA genes:542
Interacting mature miRNAs:621
Transcripts:ENST00000320185, ENST00000344255, ENST00000346714, ENST00000347978, ENST00000469792, ENST00000485728
Prediction methods: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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1 1 5 1 57 2 4 7 2 4
Low 56 70 12 5 225 6 301 19 666 18 427 69 2 207 41
Below cutoff 1449 2049 811 201 1201 120 3050 1338 2692 174 616 954 86 843 2088 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001206389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_033163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_033164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_033165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB014615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF079325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF520763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH004750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC128235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC128236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN369230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS007996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D38752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U36223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U46211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U46212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U46213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U56978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000320185   ⟹   ENSP00000321797
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl10101,770,109 - 101,776,114 (-)Ensembl
RefSeq Acc Id: ENST00000344255   ⟹   ENSP00000340039
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl10101,770,131 - 101,776,114 (-)Ensembl
RefSeq Acc Id: ENST00000346714   ⟹   ENSP00000344306
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl10101,770,324 - 101,775,974 (-)Ensembl
RefSeq Acc Id: ENST00000347978   ⟹   ENSP00000321945
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl10101,770,324 - 101,776,070 (-)Ensembl
RefSeq Acc Id: ENST00000469792   ⟹   ENSP00000473299
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl10101,770,142 - 101,776,097 (-)Ensembl
RefSeq Acc Id: ENST00000485728
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl10101,770,324 - 101,775,900 (-)Ensembl
RefSeq Acc Id: ENST00000618991   ⟹   ENSP00000484420
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl10101,770,236 - 101,780,371 (-)Ensembl
RefSeq Acc Id: NM_001206389   ⟹   NP_001193318
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810101,770,109 - 101,780,369 (-)NCBI
GRCh3710103,529,887 - 103,540,126 (-)ENTREZGENE
HuRef1097,160,317 - 97,170,664 (-)ENTREZGENE
CHM1_110103,813,541 - 103,823,715 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006119   ⟹   NP_006110
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810101,770,109 - 101,776,114 (-)NCBI
GRCh3710103,529,887 - 103,540,126 (-)ENTREZGENE
Build 3610103,519,877 - 103,525,817 (-)NCBI Archive
HuRef1097,160,317 - 97,170,664 (-)ENTREZGENE
CHM1_110103,813,541 - 103,819,413 (-)NCBI
Sequence:
RefSeq Acc Id: NM_033163   ⟹   NP_149353
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810101,770,109 - 101,776,114 (-)NCBI
GRCh3710103,529,887 - 103,540,126 (-)ENTREZGENE
Build 3610103,519,877 - 103,525,817 (-)NCBI Archive
HuRef1097,160,317 - 97,170,664 (-)ENTREZGENE
CHM1_110103,813,541 - 103,819,413 (-)NCBI
Sequence:
RefSeq Acc Id: NM_033164   ⟹   NP_149354
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810101,770,131 - 101,776,114 (-)NCBI
GRCh3710103,529,887 - 103,540,126 (-)ENTREZGENE
Build 3610103,519,877 - 103,525,817 (-)NCBI Archive
HuRef1097,160,317 - 97,170,664 (-)ENTREZGENE
CHM1_110103,813,541 - 103,819,413 (-)NCBI
Sequence:
RefSeq Acc Id: NM_033165   ⟹   NP_149355
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810101,770,109 - 101,776,114 (-)NCBI
GRCh3710103,529,887 - 103,540,126 (-)ENTREZGENE
Build 3610103,519,877 - 103,525,817 (-)NCBI Archive
HuRef1097,160,317 - 97,170,664 (-)ENTREZGENE
CHM1_110103,813,541 - 103,819,413 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001193318 (Get FASTA)   NCBI Sequence Viewer  
  NP_006110 (Get FASTA)   NCBI Sequence Viewer  
  NP_149353 (Get FASTA)   NCBI Sequence Viewer  
  NP_149354 (Get FASTA)   NCBI Sequence Viewer  
  NP_149355 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB03787 (Get FASTA)   NCBI Sequence Viewer  
  AAB17893 (Get FASTA)   NCBI Sequence Viewer  
  AAB17894 (Get FASTA)   NCBI Sequence Viewer  
  AAB34255 (Get FASTA)   NCBI Sequence Viewer  
  AAB40953 (Get FASTA)   NCBI Sequence Viewer  
  AAB40954 (Get FASTA)   NCBI Sequence Viewer  
  AAB40955 (Get FASTA)   NCBI Sequence Viewer  
  AAC50782 (Get FASTA)   NCBI Sequence Viewer  
  AAC50783 (Get FASTA)   NCBI Sequence Viewer  
  AAC50784 (Get FASTA)   NCBI Sequence Viewer  
  AAC50785 (Get FASTA)   NCBI Sequence Viewer  
  AAH69106 (Get FASTA)   NCBI Sequence Viewer  
  AAI28236 (Get FASTA)   NCBI Sequence Viewer  
  AAI28237 (Get FASTA)   NCBI Sequence Viewer  
  AAM55238 (Get FASTA)   NCBI Sequence Viewer  
  BAA22527 (Get FASTA)   NCBI Sequence Viewer  
  BAA28605 (Get FASTA)   NCBI Sequence Viewer  
  CAI53480 (Get FASTA)   NCBI Sequence Viewer  
  EAW49746 (Get FASTA)   NCBI Sequence Viewer  
  EAW49747 (Get FASTA)   NCBI Sequence Viewer  
  EAW49748 (Get FASTA)   NCBI Sequence Viewer  
  EAW49749 (Get FASTA)   NCBI Sequence Viewer  
  EAW49750 (Get FASTA)   NCBI Sequence Viewer  
  P55075 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001193318   ⟸   NM_001206389
- Peptide Label: isoform G
- UniProtKB: A0A087X1S5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_149355   ⟸   NM_033165
- Peptide Label: isoform A precursor
- UniProtKB: P55075 (UniProtKB/Swiss-Prot),   A1A515 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_006110   ⟸   NM_006119
- Peptide Label: isoform B precursor
- UniProtKB: P55075 (UniProtKB/Swiss-Prot),   A1A515 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_149354   ⟸   NM_033164
- Peptide Label: isoform E precursor
- UniProtKB: P55075 (UniProtKB/Swiss-Prot),   A1A515 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_149353   ⟸   NM_033163
- Peptide Label: isoform F precursor
- UniProtKB: P55075 (UniProtKB/Swiss-Prot),   A1A515 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000344306   ⟸   ENST00000346714
RefSeq Acc Id: ENSP00000321945   ⟸   ENST00000347978
RefSeq Acc Id: ENSP00000321797   ⟸   ENST00000320185
RefSeq Acc Id: ENSP00000473299   ⟸   ENST00000469792
RefSeq Acc Id: ENSP00000484420   ⟸   ENST00000618991
RefSeq Acc Id: ENSP00000340039   ⟸   ENST00000344255

Promoters
RGD ID:7218483
Promoter ID:EPDNEW_H14987
Type:initiation region
Name:FGF8_1
Description:fibroblast growth factor 8
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
GRCh3810101,776,114 - 101,776,174EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_033164.4(FGF8):c.436G>T (p.Val146Phe) single nucleotide variant Holoprosencephaly sequence [RCV000656423] Chr10:101770595 [GRCh38]
Chr10:103530352 [GRCh37]
Chr10:10q24.32
likely pathogenic
NM_033163.4(FGF8):c.157G>C (p.Val53Leu) single nucleotide variant Holoprosencephaly sequence [RCV000656426] Chr10:101774912 [GRCh38]
Chr10:103534669 [GRCh37]
Chr10:10q24.32
likely pathogenic
NM_033163.4(FGF8):c.130C>T (p.Arg44Trp) single nucleotide variant Holoprosencephaly sequence [RCV000656428]|Peters plus syndrome [RCV001007891] Chr10:101775156 [GRCh38]
Chr10:103534913 [GRCh37]
Chr10:10q24.32
benign|uncertain significance
NM_033164.4(FGF8):c.464A>G (p.Asn155Ser) single nucleotide variant Holoprosencephaly sequence [RCV000656427] Chr10:101770567 [GRCh38]
Chr10:103530324 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_033163.4(FGF8):c.157-1G>A single nucleotide variant Holoprosencephaly sequence [RCV000656364] Chr10:101774913 [GRCh38]
Chr10:103534670 [GRCh37]
Chr10:10q24.32
likely pathogenic
NM_033164.4(FGF8):c.86_103dup (p.Gly29_Arg34dup) duplication Holoprosencephaly sequence [RCV000656430]|not provided [RCV000711644] Chr10:101775182..101775183 [GRCh38]
Chr10:103534939..103534940 [GRCh37]
Chr10:10q24.32
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_033163.4(FGF8):c.77C>T (p.Pro26Leu) single nucleotide variant Hypogonadotropic hypogonadism 6 with or without anosmia [RCV000009692]|not provided [RCV000767027]|not specified [RCV000239300] Chr10:101775209 [GRCh38]
Chr10:103534966 [GRCh37]
Chr10:10q24.32
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006119.5(FGF8):c.292C>G (p.Arg98Gly) single nucleotide variant Hypogonadotropic hypogonadism 6 with or without anosmia [RCV000009695] Chr10:101771528 [GRCh38]
Chr10:103531285 [GRCh37]
Chr10:10q24.32
pathogenic
NM_006119.5(FGF8):c.599C>T (p.Thr200Met) single nucleotide variant Holoprosencephaly 1 [RCV000988442]|Hypogonadotropic hypogonadism 6 with or without anosmia [RCV000009697]|not provided [RCV001531080] Chr10:101770378 [GRCh38]
Chr10:103530135 [GRCh37]
Chr10:10q24.32
likely benign|uncertain significance
NM_001206389.1(FGF8):c.-153C>A single nucleotide variant Hypogonadotropic hypogonadism 6 with or without anosmia [RCV000030886] Chr10:101775769 [GRCh38]
Chr10:103535526 [GRCh37]
Chr10:10q24.32
pathogenic
NM_006119.5(FGF8):c.70-256T>C single nucleotide variant Hypogonadotropic hypogonadism 6 with or without anosmia [RCV000030887] Chr10:101775168 [GRCh38]
Chr10:103534925 [GRCh37]
Chr10:10q24.32
pathogenic
NM_001206389.1(FGF8):c.-15A>G single nucleotide variant Hypogonadotropic hypogonadism 6 with or without anosmia [RCV000030888] Chr10:101774771 [GRCh38]
Chr10:103534528 [GRCh37]
Chr10:10q24.32
pathogenic
GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3 copy number gain See cases [RCV000050747] Chr10:95112607..116776637 [GRCh38]
Chr10:96872364..118383651 [GRCh37]
Chr10:96862354..118526138 [NCBI36]
Chr10:10q23.33-25.3
pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3
pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3 copy number gain See cases [RCV000053564] Chr10:100194215..132432797 [GRCh38]
Chr10:101953972..134246301 [GRCh37]
Chr10:101943962..134096291 [NCBI36]
Chr10:10q24.31-26.3
pathogenic
GRCh38/hg38 10q24.31-24.32(chr10:101120347-101831908)x3 copy number gain See cases [RCV000053565] Chr10:101120347..101831908 [GRCh38]
Chr10:102880104..103591665 [GRCh37]
Chr10:102870094..103581655 [NCBI36]
Chr10:10q24.31-24.32
pathogenic
NM_033163.4(FGF8):c.451G>A (p.Gly151Ser) single nucleotide variant Hypogonadotropic hypogonadism 6 with or without anosmia [RCV000128828] Chr10:101770613 [GRCh38]
Chr10:103530370 [GRCh37]
Chr10:10q24.32
likely pathogenic|uncertain significance
NM_001206389.1(FGF8):c.-76C>G single nucleotide variant Hypogonadotropic hypogonadism 6 with or without anosmia [RCV000128829] Chr10:101774832 [GRCh38]
Chr10:103534589 [GRCh37]
Chr10:10q24.32
likely pathogenic
NM_033163.5(FGF8):c.335_337+2del deletion Hypogonadotropic hypogonadism 6 with or without anosmia [RCV001333418] Chr10:101774730..101774734 [GRCh38]
Chr10:103534487..103534491 [GRCh37]
Chr10:10q24.32
uncertain significance
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 copy number gain See cases [RCV000137747] Chr10:100600492..133622588 [GRCh38]
Chr10:102360249..135436092 [GRCh37]
Chr10:102350239..135286082 [NCBI36]
Chr10:10q24.31-26.3
pathogenic
NM_033164.4(FGF8):c.412-62G>A single nucleotide variant Hypogonadotropic hypogonadism 6 with or without anosmia [RCV001000328]|not specified [RCV000202940] Chr10:101770681 [GRCh38]
Chr10:103530438 [GRCh37]
Chr10:10q24.32
benign
NM_033163.4(FGF8):c.385C>T (p.Arg129Ter) single nucleotide variant Holoprosencephaly sequence [RCV000223728]|Hypogonadotropic hypogonadism 6 with or without anosmia [RCV000735419] Chr10:101771522 [GRCh38]
Chr10:103531279 [GRCh37]
Chr10:10q24.32
pathogenic|likely pathogenic
NM_033163.4(FGF8):c.617G>A (p.Arg206Gln) single nucleotide variant Holoprosencephaly sequence [RCV000223812] Chr10:101770447 [GRCh38]
Chr10:103530204 [GRCh37]
Chr10:10q24.32
likely pathogenic
NM_033163.4(FGF8):c.356C>T (p.Thr119Met) single nucleotide variant Holoprosencephaly sequence [RCV000661903]|Semilobar holoprosencephaly [RCV000223893] Chr10:101771551 [GRCh38]
Chr10:103531308 [GRCh37]
Chr10:10q24.32
likely pathogenic
NM_033163.4(FGF8):c.317C>A (p.Ala106Glu) single nucleotide variant Semilobar holoprosencephaly [RCV000223804] Chr10:101774752 [GRCh38]
Chr10:103534509 [GRCh37]
Chr10:10q24.32
likely pathogenic
GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3 copy number gain See cases [RCV000240457] Chr10:103288313..135512075 [GRCh37]
Chr10:10q24.32-26.3
pathogenic
NM_033163.4(FGF8):c.379C>T (p.Arg127Ter) single nucleotide variant Hypogonadotropic hypogonadism 6 with or without anosmia [RCV000735418]|not provided [RCV001007971] Chr10:101771528 [GRCh38]
Chr10:103531285 [GRCh37]
Chr10:10q24.32
pathogenic
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 copy number gain See cases [RCV000446733] Chr10:100780957..135427143 [GRCh37]
Chr10:10q24.2-26.3
pathogenic
GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000431909] Chr10:85557432..105804295 [GRCh37]
Chr10:10q23.1-25.1
pathogenic|drug response
NM_033163.4(FGF8):c.287T>A (p.Val96Asp) single nucleotide variant not provided [RCV000419587] Chr10:101774782 [GRCh38]
Chr10:103534539 [GRCh37]
Chr10:10q24.32
likely pathogenic
NM_033163.4(FGF8):c.32+11C>T single nucleotide variant not specified [RCV000425754] Chr10:101775858 [GRCh38]
Chr10:103535615 [GRCh37]
Chr10:10q24.32
likely benign
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_033163.4(FGF8):c.261C>G (p.Ser87Arg) single nucleotide variant not specified [RCV000503695] Chr10:101774808 [GRCh38]
Chr10:103534565 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_033163.4(FGF8):c.628_629dup (p.His211fs) duplication Hypogonadotropic hypogonadism 6 with or without anosmia [RCV000501421] Chr10:101770434..101770435 [GRCh38]
Chr10:103530191..103530192 [GRCh37]
Chr10:10q24.32
likely pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3
pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
NM_033164.4(FGF8):c.526_540del (p.Arg176_Gly180del) deletion Holoprosencephaly sequence [RCV000656424] Chr10:101770491..101770505 [GRCh38]
Chr10:103530248..103530262 [GRCh37]
Chr10:10q24.32
pathogenic
NM_033164.4(FGF8):c.365C>T (p.Thr122Met) single nucleotide variant Holoprosencephaly sequence [RCV000656425] Chr10:101771509 [GRCh38]
Chr10:103531266 [GRCh37]
Chr10:10q24.32
likely pathogenic
NM_033164.4(FGF8):c.411+1G>A single nucleotide variant Holoprosencephaly sequence [RCV000656499] Chr10:101771462 [GRCh38]
Chr10:103531219 [GRCh37]
Chr10:10q24.32
likely pathogenic
NM_033164.4(FGF8):c.609C>T (p.Thr203=) single nucleotide variant not provided [RCV000874332]|not specified [RCV000600092] Chr10:101770422 [GRCh38]
Chr10:103530179 [GRCh37]
Chr10:10q24.32
benign|likely benign
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3
pathogenic
GRCh37/hg19 10q24.31-24.32(chr10:102841029-103558701)x3 copy number gain not provided [RCV000737286] Chr10:102841029..103558701 [GRCh37]
Chr10:10q24.31-24.32
benign
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_033164.4(FGF8):c.324G>A (p.Thr108=) single nucleotide variant not provided [RCV000906397] Chr10:101771550 [GRCh38]
Chr10:103531307 [GRCh37]
Chr10:10q24.32
likely benign
GRCh37/hg19 10q24.31-24.32(chr10:102822575-103558868) copy number gain Split hand-foot malformation 3 [RCV000767666] Chr10:102822575..103558868 [GRCh37]
Chr10:10q24.31-24.32
pathogenic
NM_033164.4(FGF8):c.156+6T>C single nucleotide variant not provided [RCV000874176] Chr10:101775124 [GRCh38]
Chr10:103534881 [GRCh37]
Chr10:10q24.32
likely benign
NM_033164.4(FGF8):c.24G>T (p.Leu8=) single nucleotide variant not provided [RCV000875803] Chr10:101775877 [GRCh38]
Chr10:103535634 [GRCh37]
Chr10:10q24.32
likely benign
NM_033164.4(FGF8):c.72A>G (p.Glu24=) single nucleotide variant not provided [RCV000916944] Chr10:101775214 [GRCh38]
Chr10:103534971 [GRCh37]
Chr10:10q24.32
likely benign
NM_006119.5(FGF8):c.419C>T (p.Ala140Val) single nucleotide variant Holoprosencephaly 1 [RCV000988443] Chr10:101770558 [GRCh38]
Chr10:103530315 [GRCh37]
Chr10:10q24.32
likely benign
NM_033163.5(FGF8):c.444+138C>T single nucleotide variant not provided [RCV001560442] Chr10:101771325 [GRCh38]
Chr10:103531082 [GRCh37]
Chr10:10q24.32
likely benign
NM_033164.4(FGF8):c.549G>A (p.Thr183=) single nucleotide variant not provided [RCV000860621] Chr10:101770482 [GRCh38]
Chr10:103530239 [GRCh37]
Chr10:10q24.32
benign
NM_033164.4(FGF8):c.474G>A (p.Ala158=) single nucleotide variant not provided [RCV000860609] Chr10:101770557 [GRCh38]
Chr10:103530314 [GRCh37]
Chr10:10q24.32
likely benign
Single allele single nucleotide variant not provided [RCV001530609] Chr10:101770052 [GRCh38]
Chr10:103529809 [GRCh37]
Chr10:10q24.32
likely benign
NM_033164.4(FGF8):c.493G>A (p.Glu165Lys) single nucleotide variant Microcephaly [RCV001252859] Chr10:101770538 [GRCh38]
Chr10:103530295 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_033163.5(FGF8):c.157-6C>G single nucleotide variant Hypogonadotropic hypogonadism 6 with or without anosmia [RCV001262872] Chr10:101774918 [GRCh38]
Chr10:103534675 [GRCh37]
Chr10:10q24.32
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3686 AgrOrtholog
COSMIC FGF8 COSMIC
Ensembl Genes ENSG00000107831 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000321797 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000321945 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000340039 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000344306 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000473299 UniProtKB/TrEMBL
  ENSP00000484420 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000320185 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000344255 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000346714 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000347978 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000469792 UniProtKB/TrEMBL
  ENST00000618991 ENTREZGENE, UniProtKB/TrEMBL
GTEx ENSG00000107831 GTEx
HGNC ID HGNC:3686 ENTREZGENE
Human Proteome Map FGF8 Human Proteome Map
InterPro FGF8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fibroblast_GF_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IL1/FGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2253 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2253 ENTREZGENE
OMIM 600483 OMIM
  612702 OMIM
PANTHER PTHR11486 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11486:SF3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28125 PharmGKB
PROSITE HBGF_FGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50353 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087X1S5 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S1MI72_HUMAN UniProtKB/TrEMBL
  A1A515 ENTREZGENE, UniProtKB/TrEMBL
  FGF8_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  R4GMQ3_HUMAN UniProtKB/TrEMBL
UniProt Secondary A1A514 UniProtKB/Swiss-Prot
  Q14915 UniProtKB/Swiss-Prot
  Q15766 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 FGF8  fibroblast growth factor 8    fibroblast growth factor 8 (androgen-induced)  Symbol and/or name change 5135510 APPROVED
2011-08-16 FGF8  fibroblast growth factor 8 (androgen-induced)  FGF8  fibroblast growth factor 8 (androgen-induced)  Symbol and/or name change 5135510 APPROVED