EGR3 (early growth response 3) - Rat Genome Database

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Gene: EGR3 (early growth response 3) Homo sapiens
Analyze
Symbol: EGR3
Name: early growth response 3
RGD ID: 736598
HGNC Page HGNC:3240
Description: Enables sequence-specific double-stranded DNA binding activity. Involved in several processes, including cell migration involved in sprouting angiogenesis; endothelial cell chemotaxis; and positive regulation of endothelial cell proliferation. Predicted to be located in chromatin.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: early growth response protein 3; EGR-3; MGC138484; PILOT; zinc finger protein pilot
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38822,687,659 - 22,693,480 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl822,687,659 - 22,693,480 (-)EnsemblGRCh38hg38GRCh38
GRCh37822,545,172 - 22,550,993 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36822,601,119 - 22,606,760 (-)NCBINCBI36Build 36hg18NCBI36
Build 34822,601,118 - 22,606,760NCBI
Celera821,507,165 - 21,512,936 (-)NCBICelera
Cytogenetic Map8p21.3NCBI
HuRef821,088,681 - 21,094,160 (-)NCBIHuRef
CHM1_1822,747,408 - 22,752,963 (-)NCBICHM1_1
T2T-CHM13v2.0822,961,911 - 22,967,732 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(-)-demecolcine  (EXP)
(S)-nicotine  (ISO)
15-acetyldeoxynivalenol  (EXP)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP,ISO)
2-methoxyethanol  (ISO)
3-methylcholanthrene  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-nitrophenol  (ISO)
acrylamide  (ISO)
afimoxifene  (EXP)
all-trans-retinoic acid  (EXP,ISO)
alpha-Zearalanol  (ISO)
ammonium chloride  (ISO)
antimonite  (EXP)
AP20187  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
atrazine  (ISO)
bathocuproine disulfonic acid  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-lapachone  (EXP)
bexarotene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
buta-1,3-diene  (ISO)
C.I. Natural Red 20  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
Calcimycin  (ISO)
calcitriol  (EXP)
chloroprene  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
clomiphene  (EXP)
clozapine  (ISO)
cocaine  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (ISO)
DDE  (EXP)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dichloromethane  (EXP)
diethylstilbestrol  (EXP)
dimethylarsinic acid  (ISO)
dioxygen  (ISO)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
divanadium pentaoxide  (EXP)
dorsomorphin  (EXP)
doxorubicin  (ISO)
ellagic acid  (EXP)
Enterolactone  (EXP)
entinostat  (EXP)
estriol  (EXP)
estrone  (EXP)
ethanol  (ISO)
ethylbenzene  (EXP)
fenvalerate  (ISO)
fluoxetine  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fulvestrant  (EXP)
genistein  (EXP,ISO)
gentamycin  (ISO)
hexestrol  (EXP)
hydroquinone  (EXP)
isotretinoin  (EXP)
ivermectin  (EXP)
L-methionine  (ISO)
leflunomide  (EXP)
Licochalcone B  (EXP)
lipopolysaccharide  (EXP)
manganese(II) chloride  (ISO)
mestranol  (EXP)
methoxychlor  (EXP)
methylarsonic acid  (ISO)
methylmercury chloride  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
morphine  (ISO)
nicotine  (ISO)
Nonylphenol  (EXP)
o-xylene  (EXP)
ozone  (EXP)
paracetamol  (ISO)
perfluorobutanesulfonic acid  (EXP)
perfluorobutyric acid  (EXP)
perfluorohexanesulfonic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (ISO)
perfluoropentanoic acid  (EXP)
phenylmercury acetate  (EXP)
phenytoin  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
pirinixic acid  (ISO)
progesterone  (EXP)
pyrrolidine dithiocarbamate  (EXP)
quercetin  (EXP)
raloxifene  (EXP)
resveratrol  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
Shikonin  (ISO)
silicon dioxide  (EXP,ISO)
sodium arsenate  (EXP,ISO)
sodium arsenite  (EXP,ISO)
Soman  (ISO)
succimer  (ISO)
tamibarotene  (EXP)
testosterone  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
toluene  (EXP)
triadimefon  (EXP)
trichloroethene  (EXP,ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
triptonide  (ISO)
trovafloxacin  (ISO)
valproic acid  (EXP,ISO)
vincristine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (ISA)
nucleoplasm  (IEA,TAS)
nucleus  (IEA)
synapse  (IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:1906159   PMID:8443122   PMID:8889549   PMID:9488654   PMID:9731539   PMID:11909874   PMID:12477932   PMID:14525795   PMID:15171706   PMID:15173177   PMID:15489334   PMID:17360599  
PMID:18059339   PMID:19124717   PMID:19274049   PMID:19453261   PMID:19822898   PMID:19839995   PMID:19965691   PMID:20144677   PMID:20379146   PMID:20506119   PMID:20537399   PMID:20634891  
PMID:20687139   PMID:21421043   PMID:21873635   PMID:22276163   PMID:22370066   PMID:22425949   PMID:23342084   PMID:23460371   PMID:23485457   PMID:23904169   PMID:23906810   PMID:23935197  
PMID:23962955   PMID:24886494   PMID:25613138   PMID:25633035   PMID:26474411   PMID:27667480   PMID:27856665   PMID:28070994   PMID:28098878   PMID:28473536   PMID:28847731   PMID:31081063  
PMID:32138690   PMID:32518380   PMID:33113163   PMID:33485349   PMID:34243729   PMID:34349018   PMID:36342511   PMID:37100882   PMID:37999751   PMID:38478384   PMID:38657122   PMID:38748804  
PMID:38970508   PMID:38973154   PMID:38992750   PMID:39197193  


Genomics

Comparative Map Data
EGR3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38822,687,659 - 22,693,480 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl822,687,659 - 22,693,480 (-)EnsemblGRCh38hg38GRCh38
GRCh37822,545,172 - 22,550,993 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36822,601,119 - 22,606,760 (-)NCBINCBI36Build 36hg18NCBI36
Build 34822,601,118 - 22,606,760NCBI
Celera821,507,165 - 21,512,936 (-)NCBICelera
Cytogenetic Map8p21.3NCBI
HuRef821,088,681 - 21,094,160 (-)NCBIHuRef
CHM1_1822,747,408 - 22,752,963 (-)NCBICHM1_1
T2T-CHM13v2.0822,961,911 - 22,967,732 (-)NCBIT2T-CHM13v2.0
Egr3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391470,314,766 - 70,320,062 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1470,314,652 - 70,320,063 (+)EnsemblGRCm39 Ensembl
GRCm381470,077,317 - 70,082,613 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1470,077,203 - 70,082,614 (+)EnsemblGRCm38mm10GRCm38
MGSCv371470,477,252 - 70,479,964 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361468,812,525 - 68,815,237 (+)NCBIMGSCv36mm8
Celera1467,617,884 - 67,620,596 (+)NCBICelera
Cytogenetic Map14D2NCBI
cM Map1436.2NCBI
Egr3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81551,560,482 - 51,565,778 (+)NCBIGRCr8
mRatBN7.21545,150,335 - 45,156,052 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1545,150,567 - 45,154,627 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1549,268,727 - 49,271,183 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01550,380,222 - 50,382,678 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01547,239,546 - 47,242,002 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01551,756,683 - 51,762,080 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1551,756,736 - 51,760,722 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01555,482,581 - 55,485,350 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41550,477,453 - 50,479,909 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11550,493,232 - 50,495,689 (+)NCBI
Celera1544,830,934 - 44,833,390 (+)NCBICelera
Cytogenetic Map15p11NCBI
Egr3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540346,105,447 - 46,108,149 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540346,105,447 - 46,108,149 (-)NCBIChiLan1.0ChiLan1.0
EGR3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2741,192,397 - 41,198,059 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1816,919,951 - 16,925,743 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0821,937,516 - 21,943,646 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1818,877,396 - 18,882,874 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl818,877,396 - 18,882,874 (-)Ensemblpanpan1.1panPan2
EGR3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12534,591,691 - 34,597,144 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2534,591,863 - 34,594,346 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2535,181,838 - 35,187,272 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02534,801,578 - 34,807,024 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2534,801,876 - 34,806,955 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12534,747,844 - 34,753,287 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02534,602,152 - 34,607,596 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02534,757,654 - 34,763,098 (+)NCBIUU_Cfam_GSD_1.0
Egr3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494312,155,031 - 12,223,380 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365556,410,279 - 6,415,482 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0 EnsemblNW_0049365556,356,691 - 6,393,825 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365556,347,446 - 6,393,784 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EGR3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl146,944,935 - 6,948,580 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1146,943,184 - 6,948,507 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2147,423,458 - 7,429,476 (-)NCBISscrofa10.2Sscrofa10.2susScr3
EGR3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1820,767,219 - 20,772,838 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl820,767,224 - 20,772,682 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605221,453,195 - 21,459,987 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Egr3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475818,180,123 - 18,186,196 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475818,180,787 - 18,186,148 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in EGR3
20 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000050297] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 copy number gain See cases [RCV000051145] Chr8:12383584..36370018 [GRCh38]
Chr8:12241093..36227536 [GRCh37]
Chr8:12285464..36347088 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3 copy number gain See cases [RCV000053633] Chr8:12750796..29445409 [GRCh38]
Chr8:12608305..29302926 [GRCh37]
Chr8:12652676..29358845 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21
pathogenic
GRCh38/hg38 8p21.3(chr8:21654619-23001935)x3 copy number gain See cases [RCV000053636] Chr8:21654619..23001935 [GRCh38]
Chr8:21512131..22859448 [GRCh37]
Chr8:21556411..22915393 [NCBI36]
Chr8:8p21.3
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 copy number gain See cases [RCV000053629] Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p21.3(chr8:21482945-22853239)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054236]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054236]|See cases [RCV000054236] Chr8:21482945..22853239 [GRCh38]
Chr8:21340456..22710752 [GRCh37]
Chr8:21384736..22766697 [NCBI36]
Chr8:8p21.3
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3 copy number gain See cases [RCV000136026] Chr8:241605..24656971 [GRCh38]
Chr8:191605..24514484 [GRCh37]
Chr8:181605..24570374 [NCBI36]
Chr8:8p23.3-21.2
pathogenic
GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3 copy number gain See cases [RCV000135967] Chr8:241530..23198398 [GRCh38]
Chr8:191530..23055911 [GRCh37]
Chr8:181530..23111856 [NCBI36]
Chr8:8p23.3-21.3
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3 copy number gain See cases [RCV000136825] Chr8:12725750..30180521 [GRCh38]
Chr8:12583259..30038037 [GRCh37]
Chr8:12627630..30157579 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 copy number gain See cases [RCV000138058] Chr8:12698495..35476082 [GRCh38]
Chr8:12556004..35333600 [GRCh37]
Chr8:12600375..35453142 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3 copy number gain See cases [RCV000138244] Chr8:12382844..28625564 [GRCh38]
Chr8:12240353..28483081 [GRCh37]
Chr8:12284724..28539000 [NCBI36]
Chr8:8p23.1-21.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 copy number gain See cases [RCV000139549] Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1 copy number loss See cases [RCV000142516] Chr8:12383584..29033946 [GRCh38]
Chr8:12241093..28891463 [GRCh37]
Chr8:12285464..28947382 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1 copy number loss See cases [RCV000142747] Chr8:18972996..33619264 [GRCh38]
Chr8:18830506..33476782 [GRCh37]
Chr8:18874786..33596324 [NCBI36]
Chr8:8p22-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000148252] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3 copy number gain See cases [RCV000203434] Chr8:20478546..28986438 [GRCh37]
Chr8:8p21.3-12
pathogenic
Single allele duplication not provided [RCV000768452] Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22
pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3 copy number gain See cases [RCV000239945] Chr8:12580132..26774307 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
Single allele complex 8p inverted duplication/deletion syndrome [RCV002280753] Chr8:158048..43019304 [GRCh37]
Chr8:8p23.3-11.21
pathogenic
NM_004430.3(EGR3):c.202C>G (p.Leu68Val) single nucleotide variant not provided [RCV000489532] Chr8:22691435 [GRCh38]
Chr8:22548948 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329) copy number gain Autism [RCV000626542] Chr8:12580104..25947329 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p22-21.2(chr8:13091530-24483615) copy number loss See cases [RCV000447428] Chr8:13091530..24483615 [GRCh37]
Chr8:8p22-21.2
pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 copy number loss not provided [RCV000509389] Chr8:16992973..32612724 [GRCh37]
Chr8:8p22-12
not provided
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3 copy number gain See cases [RCV000510571] Chr8:12528482..33684786 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p21.3(chr8:22492051-23039856)x3 copy number gain See cases [RCV000512002] Chr8:22492051..23039856 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 copy number gain See cases [RCV000510899] Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p21.3(chr8:22381361-23226751)x3 copy number gain See cases [RCV000510870] Chr8:22381361..23226751 [GRCh37]
Chr8:8p21.3
likely benign
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3 copy number gain not provided [RCV000683041] Chr8:8770948..27079636 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh37/hg19 8p21.3(chr8:22539315-22932915)x3 copy number gain not provided [RCV000682976] Chr8:22539315..22932915 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 copy number gain not provided [RCV000683043] Chr8:12552775..35935825 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3 copy number gain not provided [RCV000683042] Chr8:1825200..24533193 [GRCh37]
Chr8:8p23.3-21.2
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_004430.3(EGR3):c.234C>T (p.Pro78=) single nucleotide variant not provided [RCV000963906] Chr8:22691403 [GRCh38]
Chr8:22548916 [GRCh37]
Chr8:8p21.3
benign
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3 copy number gain not provided [RCV000762735] Chr8:12556004..34374150 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
NM_004430.3(EGR3):c.1122G>C (p.Ala374=) single nucleotide variant not provided [RCV000926503] Chr8:22690515 [GRCh38]
Chr8:22548028 [GRCh37]
Chr8:8p21.3
likely benign
NM_004430.3(EGR3):c.366G>T (p.Thr122=) single nucleotide variant not provided [RCV000920656] Chr8:22691271 [GRCh38]
Chr8:22548784 [GRCh37]
Chr8:8p21.3
likely benign
NM_004430.3(EGR3):c.1014C>T (p.Cys338=) single nucleotide variant not provided [RCV000893695] Chr8:22690623 [GRCh38]
Chr8:22548136 [GRCh37]
Chr8:8p21.3
benign
GRCh37/hg19 8p21.3-21.2(chr8:21662847-24199218)x1 copy number loss not provided [RCV000849161] Chr8:21662847..24199218 [GRCh37]
Chr8:8p21.3-21.2
pathogenic
NM_004430.3(EGR3):c.1128C>T (p.Pro376=) single nucleotide variant not provided [RCV000919314] Chr8:22690509 [GRCh38]
Chr8:22548022 [GRCh37]
Chr8:8p21.3
likely benign
NM_004430.3(EGR3):c.1080G>A (p.Glu360=) single nucleotide variant not provided [RCV000896012] Chr8:22690557 [GRCh38]
Chr8:22548070 [GRCh37]
Chr8:8p21.3
benign
GRCh37/hg19 8p21.3(chr8:20564910-22629124)x3 copy number gain not provided [RCV000847279] Chr8:20564910..22629124 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p21.3-21.2(chr8:22442548-27369334)x1 copy number loss not provided [RCV000847074] Chr8:22442548..27369334 [GRCh37]
Chr8:8p21.3-21.2
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_004430.3(EGR3):c.591C>A (p.Tyr197Ter) single nucleotide variant Neurodevelopmental delay [RCV001253432] Chr8:22691046 [GRCh38]
Chr8:22548559 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3 copy number gain not provided [RCV001260030] Chr8:12528482..29886483 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormal fetal cardiovascular morphology [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
NM_004430.3(EGR3):c.360C>A (p.Leu120=) single nucleotide variant not provided [RCV001708811] Chr8:22691277 [GRCh38]
Chr8:22548790 [GRCh37]
Chr8:8p21.3
benign
NC_000008.10:g.(?_21900440)_(23564111_?)dup duplication Conotruncal heart malformations [RCV003107885]|not provided [RCV001928022] Chr8:21900440..23564111 [GRCh37]
Chr8:8p21.3-21.2
uncertain significance|no classifications from unflagged records
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
Single allele complex See cases [RCV002292428] Chr8:6999114..11935023 [GRCh37]
Chr8:8p23.3-11.21
pathogenic
GRCh37/hg19 8p21.3-21.2(chr8:19779604-26531980)x4 copy number gain not provided [RCV002279745] Chr8:19779604..26531980 [GRCh37]
Chr8:8p21.3-21.2
pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1 copy number loss See cases [RCV002286343] Chr8:158048..30187456 [GRCh37]
Chr8:8p23.3-12
pathogenic
NM_004430.3(EGR3):c.123C>G (p.Asp41Glu) single nucleotide variant not specified [RCV004332109] Chr8:22692822 [GRCh38]
Chr8:22550335 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_004430.3(EGR3):c.1099G>A (p.Gly367Ser) single nucleotide variant not specified [RCV004149614] Chr8:22690538 [GRCh38]
Chr8:22548051 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_004430.3(EGR3):c.598C>A (p.Pro200Thr) single nucleotide variant not specified [RCV004117762] Chr8:22691039 [GRCh38]
Chr8:22548552 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_004430.3(EGR3):c.209A>T (p.Tyr70Phe) single nucleotide variant not specified [RCV004137131] Chr8:22691428 [GRCh38]
Chr8:22548941 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p21.3-21.2(chr8:21925038-26372195)x1 copy number loss not provided [RCV003223292] Chr8:21925038..26372195 [GRCh37]
Chr8:8p21.3-21.2
likely pathogenic
GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1 copy number loss Microcephaly [RCV003327707] Chr8:12721809..30183737 [GRCh38]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1 copy number loss Neurodevelopmental disorder [RCV003327729] Chr8:449893..23854904 [GRCh38]
Chr8:8p23.3-21.2
pathogenic
NM_004430.3(EGR3):c.154+490G>T single nucleotide variant EGR3-related disorder [RCV003397771] Chr8:22692301 [GRCh38]
Chr8:22549814 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3 copy number gain not provided [RCV003484725] Chr8:14240573..43824035 [GRCh37]
Chr8:8p22-11.1
pathogenic
Single allele duplication not provided [RCV003448693] Chr8:12530550..43483193 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3 copy number gain not provided [RCV003484713] Chr8:2201405..41723095 [GRCh37]
Chr8:8p23.2-11.21
pathogenic
GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3 copy number gain not provided [RCV003484722] Chr8:11945856..37902453 [GRCh37]
Chr8:8p23.1-11.23
pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3 copy number gain not provided [RCV003484724] Chr8:12560782..38748763 [GRCh37]
Chr8:8p23.1-11.22
pathogenic
GRCh37/hg19 8p21.3(chr8:22492103-22913733)x3 copy number gain not provided [RCV003484730] Chr8:22492103..22913733 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1 copy number loss not provided [RCV003483018] Chr8:12490999..28150620 [GRCh37]
Chr8:8p23.1-21.1
pathogenic
Single allele duplication not provided [RCV003448690] Chr8:20868762..22701502 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3 copy number gain not specified [RCV003986756] Chr8:158048..41600696 [GRCh37]
Chr8:8p23.3-11.21
pathogenic
GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3 copy number gain not specified [RCV003986767] Chr8:20136266..43786723 [GRCh37]
Chr8:8p21.3-11.1
pathogenic
NM_004430.3(EGR3):c.1039G>A (p.Glu347Lys) single nucleotide variant EGR3-related disorder [RCV003897272] Chr8:22690598 [GRCh38]
Chr8:22548111 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_004430.3(EGR3):c.276C>G (p.Asp92Glu) single nucleotide variant not specified [RCV004377518] Chr8:22691361 [GRCh38]
Chr8:22548874 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_004430.3(EGR3):c.244A>C (p.Thr82Pro) single nucleotide variant not specified [RCV004622461] Chr8:22691393 [GRCh38]
Chr8:22548906 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_004430.3(EGR3):c.236G>T (p.Gly79Val) single nucleotide variant not specified [RCV004622463] Chr8:22691401 [GRCh38]
Chr8:22548914 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_004430.3(EGR3):c.861C>G (p.Ser287Arg) single nucleotide variant not specified [RCV004622462] Chr8:22690776 [GRCh38]
Chr8:22548289 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p23.3-21.2(chr8:158049-24812752)x1 copy number loss not provided [RCV004819357] Chr8:158049..24812752 [GRCh37]
Chr8:8p23.3-21.2
pathogenic
NM_004430.3(EGR3):c.1102G>A (p.Ala368Thr) single nucleotide variant not specified [RCV004910080] Chr8:22690535 [GRCh38]
Chr8:22548048 [GRCh37]
Chr8:8p21.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3280
Count of miRNA genes:1062
Interacting mature miRNAs:1304
Transcripts:ENST00000317216, ENST00000518773, ENST00000519492, ENST00000522910, ENST00000524088
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298482BP2_HBlood pressure QTL 2 (human)1.8Blood pressurediastolic8695325632953256Human
1558703SCL6_HSerum cholesterol level QTL 1 (human)1.2Lipid levelHDL cholesterol81246863538468635Human
597212644GWAS1308718_Hmathematical ability QTL GWAS1308718 (human)7e-09mathematical ability82269162422691625Human

Markers in Region
RH17894  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37822,545,363 - 22,545,623UniSTSGRCh37
Build 36822,601,308 - 22,601,568RGDNCBI36
Celera821,507,354 - 21,507,614RGD
Cytogenetic Map8p23-p21UniSTS
HuRef821,088,870 - 21,089,130UniSTS
GeneMap99-GB4 RH Map895.2UniSTS
RH141385  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37822,545,265 - 22,545,430UniSTSGRCh37
Build 36822,601,210 - 22,601,375RGDNCBI36
Celera821,507,256 - 21,507,421RGD
HuRef821,088,772 - 21,088,937UniSTS
EGR3_8320  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37822,545,115 - 22,546,000UniSTSGRCh37
Build 36822,601,060 - 22,601,945RGDNCBI36
Celera821,507,106 - 21,507,991RGD
HuRef821,088,622 - 21,089,507UniSTS
G15926  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37822,547,400 - 22,547,627UniSTSGRCh37
Build 36822,603,345 - 22,603,572RGDNCBI36
Celera821,509,391 - 21,509,618RGD
Cytogenetic Map8p23-p21UniSTS
HuRef821,090,907 - 21,091,134UniSTS
WI-15547  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8p23-p21UniSTS
GeneMap99-GB4 RH Map8100.0UniSTS
Whitehead-RH Map898.7UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2417 2788 2242 4951 1707 2271 2 608 1901 451 2265 7194 6402 48 3718 832 1706 1553 171

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001199880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001199881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC105046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC333411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  N66802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S40832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X63741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y07558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000317216   ⟹   ENSP00000318057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl822,687,659 - 22,693,480 (-)Ensembl
Ensembl Acc Id: ENST00000518773
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl822,691,165 - 22,692,224 (-)Ensembl
Ensembl Acc Id: ENST00000519492   ⟹   ENSP00000429370
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl822,690,424 - 22,693,178 (-)Ensembl
Ensembl Acc Id: ENST00000522910   ⟹   ENSP00000430310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl822,690,043 - 22,692,414 (-)Ensembl
Ensembl Acc Id: ENST00000524088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl822,690,472 - 22,692,717 (-)Ensembl
RefSeq Acc Id: NM_001199880   ⟹   NP_001186809
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38822,687,659 - 22,692,364 (-)NCBI
GRCh37822,545,172 - 22,550,815 (-)NCBI
HuRef821,088,681 - 21,094,160 (-)NCBI
CHM1_1822,747,408 - 22,752,136 (-)NCBI
T2T-CHM13v2.0822,961,911 - 22,966,616 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001199881   ⟹   NP_001186810
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38822,687,659 - 22,692,577 (-)NCBI
GRCh37822,545,172 - 22,550,815 (-)NCBI
HuRef821,088,681 - 21,094,160 (-)NCBI
CHM1_1822,747,408 - 22,752,327 (-)NCBI
T2T-CHM13v2.0822,961,911 - 22,966,829 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004430   ⟹   NP_004421
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38822,687,659 - 22,693,480 (-)NCBI
GRCh37822,545,172 - 22,550,815 (-)NCBI
Build 36822,601,119 - 22,606,760 (-)NCBI Archive
HuRef821,088,681 - 21,094,160 (-)NCBI
CHM1_1822,747,408 - 22,752,963 (-)NCBI
T2T-CHM13v2.0822,961,911 - 22,967,732 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005273425   ⟹   XP_005273482
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38822,687,659 - 22,692,191 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011544429   ⟹   XP_011542731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38822,687,659 - 22,692,577 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054359946   ⟹   XP_054215921
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0822,961,911 - 22,966,443 (-)NCBI
RefSeq Acc Id: XM_054359947   ⟹   XP_054215922
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0822,961,911 - 22,966,942 (-)NCBI
RefSeq Acc Id: NP_004421   ⟸   NM_004430
- Peptide Label: isoform 1
- UniProtKB: E7EW38 (UniProtKB/Swiss-Prot),   B4DHJ5 (UniProtKB/Swiss-Prot),   A8K8U9 (UniProtKB/Swiss-Prot),   Q2M3W2 (UniProtKB/Swiss-Prot),   Q06889 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001186810   ⟸   NM_001199881
- Peptide Label: isoform 3
- UniProtKB: B4DH80 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001186809   ⟸   NM_001199880
- Peptide Label: isoform 2
- UniProtKB: Q06889 (UniProtKB/Swiss-Prot),   B4DH80 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005273482   ⟸   XM_005273425
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011542731   ⟸   XM_011544429
- Peptide Label: isoform X2
- Sequence:
Ensembl Acc Id: ENSP00000429370   ⟸   ENST00000519492
Ensembl Acc Id: ENSP00000430310   ⟸   ENST00000522910
Ensembl Acc Id: ENSP00000318057   ⟸   ENST00000317216
RefSeq Acc Id: XP_054215922   ⟸   XM_054359947
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054215921   ⟸   XM_054359946
- Peptide Label: isoform X1
Protein Domains
C2H2-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q06889-F1-model_v2 AlphaFold Q06889 1-387 view protein structure

Promoters
RGD ID:6813384
Promoter ID:HG_ACW:76212
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:EGR3.BAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 36822,604,556 - 22,606,037 (-)MPROMDB
RGD ID:6806621
Promoter ID:HG_KWN:60903
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000215098
Position:
Human AssemblyChrPosition (strand)Source
Build 36822,606,341 - 22,607,187 (-)MPROMDB
RGD ID:7212833
Promoter ID:EPDNEW_H12162
Type:initiation region
Name:EGR3_1
Description:early growth response 3
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
GRCh38822,693,392 - 22,693,452EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3240 AgrOrtholog
COSMIC EGR3 COSMIC
Ensembl Genes ENSG00000179388 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000317216 ENTREZGENE
  ENST00000317216.3 UniProtKB/Swiss-Prot
  ENST00000519492.1 UniProtKB/TrEMBL
  ENST00000522910 ENTREZGENE
  ENST00000522910.1 UniProtKB/Swiss-Prot
Gene3D-CATH Classic Zinc Finger UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000179388 GTEx
HGNC ID HGNC:3240 ENTREZGENE
Human Proteome Map EGR3 Human Proteome Map
InterPro EGR_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1960 UniProtKB/Swiss-Prot
NCBI Gene 1960 ENTREZGENE
OMIM 602419 OMIM
PANTHER EARLY GROWTH RESPONSE PROTEIN 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KRUEPPEL-LIKE TRANSCRIPTION FACTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF3446 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27675 PharmGKB
PROSITE ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ZnF_C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57667 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K8U9 ENTREZGENE
  B4DH80 ENTREZGENE, UniProtKB/TrEMBL
  B4DHJ5 ENTREZGENE
  E5RIM5_HUMAN UniProtKB/TrEMBL
  E7EW38 ENTREZGENE
  EGR3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q2M3W2 ENTREZGENE
UniProt Secondary A8K8U9 UniProtKB/Swiss-Prot
  B4DHJ5 UniProtKB/Swiss-Prot
  E7EW38 UniProtKB/Swiss-Prot
  Q2M3W2 UniProtKB/Swiss-Prot