E2F7 (E2F transcription factor 7) - Rat Genome Database

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Gene: E2F7 (E2F transcription factor 7) Homo sapiens
Analyze
Symbol: E2F7
Name: E2F transcription factor 7
RGD ID: 1321054
HGNC Page HGNC:23820
Description: Enables DNA-binding transcription repressor activity; cis-regulatory region sequence-specific DNA binding activity; and identical protein binding activity. Involved in DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; regulation of transcription by RNA polymerase II; and sprouting angiogenesis. Located in nuclear speck.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: E2F-7; FLJ12981; transcription factor E2F7
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
GRCh381277,021,251 - 77,065,569 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1277,021,248 - 77,065,569 (-)EnsemblGRCh38hg38GRCh38
GRCh371277,415,031 - 77,459,349 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361275,939,157 - 75,983,491 (-)NCBINCBI36Build 36hg18NCBI36
Celera1277,080,472 - 77,124,821 (-)NCBICelera
Cytogenetic Map12q21.2NCBI
HuRef1274,467,815 - 74,512,166 (-)NCBIHuRef
CHM1_11277,380,867 - 77,425,221 (-)NCBICHM1_1
T2T-CHM13v2.01276,999,082 - 77,043,421 (-)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
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP,ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-diaminotoluene  (ISO)
2-butoxyethanol  (ISO)
2-palmitoylglycerol  (EXP)
3-methylcholanthrene  (ISO)
4-hydroxyphenyl retinamide  (ISO)
acetamide  (ISO)
acrolein  (EXP)
acrylamide  (EXP)
aflatoxin B1  (EXP)
alpha-pinene  (EXP)
antimycin A  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
atrazine  (ISO)
azathioprine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bromobenzene  (ISO)
cadmium atom  (EXP)
caffeine  (EXP)
calcitriol  (EXP)
cannabidiol  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
cisplatin  (EXP)
cobalt atom  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
coumestrol  (EXP)
CU-O LINKAGE  (EXP)
cyclosporin A  (EXP)
dibenz[a,h]anthracene  (ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dioxygen  (EXP)
doxorubicin  (EXP)
endosulfan  (EXP)
Enterolactone  (EXP)
ethyl methanesulfonate  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
gallic acid  (EXP)
gentamycin  (ISO)
harmine  (EXP)
Lasiocarpine  (EXP)
lead(0)  (EXP)
MeIQx  (EXP)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
nickel atom  (EXP)
niclosamide  (EXP)
ozone  (EXP,ISO)
paracetamol  (EXP,ISO)
PCB138  (ISO)
perfluorooctanoic acid  (EXP)
phenobarbital  (EXP,ISO)
phosphoramide mustard  (ISO)
picoxystrobin  (EXP)
propanal  (EXP)
quercetin  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
silicon dioxide  (ISO)
sodium arsenite  (EXP,ISO)
sotorasib  (EXP)
succimer  (ISO)
sunitinib  (EXP)
temozolomide  (EXP)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trametinib  (EXP)
triclosan  (EXP)
trimellitic anhydride  (ISO)
triptonide  (ISO)
trovafloxacin  (ISO)
tungsten  (ISO)
Tungsten carbide  (EXP)
urethane  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:12893818   PMID:14633988   PMID:14702039   PMID:15133492   PMID:15897886   PMID:16344560   PMID:17200349   PMID:17353931   PMID:18202719   PMID:19223542   PMID:19240061  
PMID:19274049   PMID:20819778   PMID:21248772   PMID:21654808   PMID:21873635   PMID:22802528   PMID:22802529   PMID:22903062   PMID:23054209   PMID:23096114   PMID:23184937   PMID:23853115  
PMID:23974101   PMID:24057671   PMID:24453475   PMID:25036637   PMID:25411162   PMID:25708247   PMID:26018753   PMID:26170170   PMID:26186194   PMID:26397135   PMID:26527279   PMID:26681691  
PMID:26885983   PMID:27460513   PMID:27591049   PMID:28473536   PMID:28514442   PMID:28986522   PMID:29331416   PMID:29507755   PMID:29540532   PMID:29540696   PMID:29590434   PMID:29760477  
PMID:29772445   PMID:29844126   PMID:29845934   PMID:29991511   PMID:30032296   PMID:30066905   PMID:30203720   PMID:30254209   PMID:30607582   PMID:31010829   PMID:31053300   PMID:31086464  
PMID:31475738   PMID:31665637   PMID:31732746   PMID:31839203   PMID:31884338   PMID:31980649   PMID:32052431   PMID:32582990   PMID:32592206   PMID:32694731   PMID:32814835   PMID:33155202  
PMID:33201900   PMID:33637098   PMID:33961781   PMID:34226413   PMID:34315543   PMID:34339800   PMID:34728620   PMID:35032548   PMID:35197448   PMID:35729702   PMID:35924788   PMID:35941108  
PMID:35944360   PMID:35984189   PMID:36382488   PMID:36525235   PMID:36627545   PMID:36765037   PMID:37028765   PMID:37277864   PMID:37358838   PMID:37615745   PMID:38073330   PMID:38113892  
PMID:38241554   PMID:38454344  


Genomics

Comparative Map Data
E2F7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381277,021,251 - 77,065,569 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1277,021,248 - 77,065,569 (-)EnsemblGRCh38hg38GRCh38
GRCh371277,415,031 - 77,459,349 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361275,939,157 - 75,983,491 (-)NCBINCBI36Build 36hg18NCBI36
Celera1277,080,472 - 77,124,821 (-)NCBICelera
Cytogenetic Map12q21.2NCBI
HuRef1274,467,815 - 74,512,166 (-)NCBIHuRef
CHM1_11277,380,867 - 77,425,221 (-)NCBICHM1_1
T2T-CHM13v2.01276,999,082 - 77,043,421 (-)NCBIT2T-CHM13v2.0
E2f7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3910110,580,799 - 110,623,245 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl10110,581,300 - 110,623,245 (+)EnsemblGRCm39 Ensembl
GRCm3810110,745,439 - 110,787,384 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl10110,745,439 - 110,787,384 (+)EnsemblGRCm38mm10GRCm38
MGSCv3710110,182,521 - 110,224,440 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3610110,149,578 - 110,191,483 (+)NCBIMGSCv36mm8
MGSCv3610110,874,175 - 110,915,960 (+)NCBIMGSCv36mm8
Celera10112,679,553 - 112,721,244 (+)NCBICelera
Cytogenetic Map10D1NCBI
cM Map1057.74NCBI
E2f7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8748,036,881 - 48,079,055 (+)NCBIGRCr8
mRatBN7.2746,150,533 - 46,192,739 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl746,151,293 - 46,192,734 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx748,049,531 - 48,091,687 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0750,252,659 - 50,294,815 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0750,030,385 - 50,072,539 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0753,275,659 - 53,318,261 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl753,275,676 - 53,316,481 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0753,286,853 - 53,328,709 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4749,689,755 - 49,751,823 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1749,710,871 - 49,771,412 (+)NCBI
Celera742,963,883 - 43,003,790 (+)NCBICelera
Cytogenetic Map7q22NCBI
E2f7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540516,148,480 - 16,186,282 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540516,148,640 - 16,187,272 (-)NCBIChiLan1.0ChiLan1.0
E2F7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21085,057,718 - 85,102,581 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11285,054,112 - 85,098,451 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01274,540,049 - 74,582,561 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11277,388,950 - 77,433,262 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1277,388,950 - 77,433,262 (-)Ensemblpanpan1.1panPan2
E2F7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11519,856,093 - 19,895,657 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1519,857,227 - 19,895,225 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1520,339,285 - 20,381,001 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01520,194,252 - 20,236,238 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1520,195,500 - 20,234,063 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11519,793,846 - 19,832,959 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01519,851,678 - 19,893,451 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01519,980,571 - 20,022,547 (-)NCBIUU_Cfam_GSD_1.0
E2f7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494540,476,352 - 40,522,277 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365685,206,135 - 5,244,450 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365685,206,135 - 5,245,324 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
E2F7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl5104,127,731 - 104,163,212 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.15104,126,924 - 104,163,582 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.25109,254,285 - 109,289,365 (+)NCBISscrofa10.2Sscrofa10.2susScr3
E2F7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11172,598,220 - 72,642,366 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1172,599,353 - 72,641,420 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037172,897,900 - 172,942,501 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
E2f7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475021,010,339 - 21,063,757 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475021,010,347 - 21,063,655 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in E2F7
57 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q21.2-21.31(chr12:75683698-80195649)x1 copy number loss See cases [RCV000050867] Chr12:75683698..80195649 [GRCh38]
Chr12:76077478..80589429 [GRCh37]
Chr12:74363745..79113560 [NCBI36]
Chr12:12q21.2-21.31		 pathogenic
GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1 copy number loss See cases [RCV000051313] Chr12:70337484..81761145 [GRCh38]
Chr12:70731264..82154924 [GRCh37]
Chr12:69017531..80679055 [NCBI36]
Chr12:12q15-21.31		 pathogenic
GRCh38/hg38 12q15-21.2(chr12:70390897-79214318)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051314]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051314]|See cases [RCV000051314] Chr12:70390897..79214318 [GRCh38]
Chr12:70784677..79608098 [GRCh37]
Chr12:69070944..78132229 [NCBI36]
Chr12:12q15-21.2		 pathogenic
NM_203394.2(E2F7):c.1992G>A (p.Glu664=) single nucleotide variant Malignant melanoma [RCV000070218] Chr12:77028031 [GRCh38]
Chr12:77421811 [GRCh37]
Chr12:75945942 [NCBI36]
Chr12:12q21.2		 not provided
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12q21.2-21.31(chr12:76566873-82021089)x1 copy number loss See cases [RCV000141023] Chr12:76566873..82021089 [GRCh38]
Chr12:76960653..82414868 [GRCh37]
Chr12:75484784..80938999 [NCBI36]
Chr12:12q21.2-21.31		 likely pathogenic
GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1 copy number loss See cases [RCV000143099] Chr12:73485697..92795805 [GRCh38]
Chr12:73879477..93189581 [GRCh37]
Chr12:72165744..91713712 [NCBI36]
Chr12:12q21.1-22		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_203394.3(E2F7):c.2372T>C (p.Ile791Thr) single nucleotide variant not specified [RCV004307680] Chr12:77025751 [GRCh38]
Chr12:77419531 [GRCh37]
Chr12:12q21.2		 likely benign
NM_203394.3(E2F7):c.1787T>C (p.Leu596Pro) single nucleotide variant not specified [RCV004281760] Chr12:77029928 [GRCh38]
Chr12:77423708 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.2670G>C (p.Arg890Ser) single nucleotide variant not specified [RCV004317558] Chr12:77024081 [GRCh38]
Chr12:77417861 [GRCh37]
Chr12:12q21.2		 uncertain significance
GRCh37/hg19 12q21.2(chr12:77266211-77964428)x3 copy number gain not provided [RCV000683447] Chr12:77266211..77964428 [GRCh37]
Chr12:12q21.2		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12q15-21.33(chr12:69608090-89629345)x1 copy number loss not provided [RCV000737927] Chr12:69608090..89629345 [GRCh37]
Chr12:12q15-21.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_203394.3(E2F7):c.1293G>A (p.Pro431=) single nucleotide variant not provided [RCV000963477] Chr12:77033873 [GRCh38]
Chr12:77427653 [GRCh37]
Chr12:12q21.2		 benign
NM_203394.3(E2F7):c.2676G>A (p.Gln892=) single nucleotide variant not provided [RCV000900658] Chr12:77024075 [GRCh38]
Chr12:77417855 [GRCh37]
Chr12:12q21.2		 benign
NM_203394.3(E2F7):c.1434C>T (p.Asp478=) single nucleotide variant not provided [RCV000879208] Chr12:77030281 [GRCh38]
Chr12:77424061 [GRCh37]
Chr12:12q21.2		 benign
NM_203394.3(E2F7):c.2571A>C (p.Pro857=) single nucleotide variant not provided [RCV000879074] Chr12:77024180 [GRCh38]
Chr12:77417960 [GRCh37]
Chr12:12q21.2		 benign
NM_203394.3(E2F7):c.1057G>A (p.Val353Ile) single nucleotide variant not specified [RCV004315892] Chr12:77043131 [GRCh38]
Chr12:77436911 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.1934G>C (p.Arg645Thr) single nucleotide variant not provided [RCV000965965] Chr12:77028089 [GRCh38]
Chr12:77421869 [GRCh37]
Chr12:12q21.2		 benign
NM_203394.3(E2F7):c.2529C>T (p.Tyr843=) single nucleotide variant not provided [RCV000953463] Chr12:77025594 [GRCh38]
Chr12:77419374 [GRCh37]
Chr12:12q21.2		 benign
NM_203394.3(E2F7):c.2180C>T (p.Thr727Ile) single nucleotide variant not specified [RCV004297211] Chr12:77025943 [GRCh38]
Chr12:77419723 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.233C>T (p.Ala78Val) single nucleotide variant not specified [RCV004202634] Chr12:77055991 [GRCh38]
Chr12:77449771 [GRCh37]
Chr12:12q21.2		 likely benign
NM_203394.3(E2F7):c.1651T>C (p.Ser551Pro) single nucleotide variant not specified [RCV004137764] Chr12:77030064 [GRCh38]
Chr12:77423844 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.349G>A (p.Ala117Thr) single nucleotide variant not specified [RCV004086101] Chr12:77055875 [GRCh38]
Chr12:77449655 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.1652C>T (p.Ser551Phe) single nucleotide variant not specified [RCV004137765] Chr12:77030063 [GRCh38]
Chr12:77423843 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.2045C>T (p.Pro682Leu) single nucleotide variant not specified [RCV004114592] Chr12:77027978 [GRCh38]
Chr12:77421758 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.2237T>C (p.Met746Thr) single nucleotide variant not specified [RCV004151127] Chr12:77025886 [GRCh38]
Chr12:77419666 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.292A>G (p.Ile98Val) single nucleotide variant not specified [RCV004098042] Chr12:77055932 [GRCh38]
Chr12:77449712 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.359A>G (p.Asp120Gly) single nucleotide variant not specified [RCV004191421] Chr12:77055865 [GRCh38]
Chr12:77449645 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.2689A>G (p.Ser897Gly) single nucleotide variant not specified [RCV004084842] Chr12:77024062 [GRCh38]
Chr12:77417842 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.2477C>G (p.Pro826Arg) single nucleotide variant not specified [RCV004140096] Chr12:77025646 [GRCh38]
Chr12:77419426 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.2135C>G (p.Pro712Arg) single nucleotide variant not specified [RCV004177623] Chr12:77027888 [GRCh38]
Chr12:77421668 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.2024T>A (p.Val675Asp) single nucleotide variant not specified [RCV004184393] Chr12:77027999 [GRCh38]
Chr12:77421779 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.1264A>G (p.Arg422Gly) single nucleotide variant not specified [RCV004118235] Chr12:77033902 [GRCh38]
Chr12:77427682 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.2567C>T (p.Ser856Leu) single nucleotide variant not specified [RCV004113075] Chr12:77024184 [GRCh38]
Chr12:77417964 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.209T>C (p.Val70Ala) single nucleotide variant not specified [RCV004115197] Chr12:77056015 [GRCh38]
Chr12:77449795 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.1216G>T (p.Ala406Ser) single nucleotide variant not specified [RCV004148351] Chr12:77033950 [GRCh38]
Chr12:77427730 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.1355A>G (p.Tyr452Cys) single nucleotide variant not specified [RCV004152174] Chr12:77033077 [GRCh38]
Chr12:77426857 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.139A>G (p.Ile47Val) single nucleotide variant not specified [RCV004185574] Chr12:77056085 [GRCh38]
Chr12:77449865 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.2300C>T (p.Pro767Leu) single nucleotide variant not specified [RCV004184049] Chr12:77025823 [GRCh38]
Chr12:77419603 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.1219C>A (p.Arg407Ser) single nucleotide variant not specified [RCV004226929] Chr12:77033947 [GRCh38]
Chr12:77427727 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.44G>A (p.Arg15Lys) single nucleotide variant not specified [RCV004133898] Chr12:77064592 [GRCh38]
Chr12:77458372 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.641G>A (p.Ser214Asn) single nucleotide variant not specified [RCV004255220] Chr12:77046226 [GRCh38]
Chr12:77440006 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.1945C>T (p.Pro649Ser) single nucleotide variant not specified [RCV004253201] Chr12:77028078 [GRCh38]
Chr12:77421858 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.2147A>G (p.Asn716Ser) single nucleotide variant not specified [RCV004269561] Chr12:77025976 [GRCh38]
Chr12:77419756 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.218T>A (p.Val73Asp) single nucleotide variant not specified [RCV004278199] Chr12:77056006 [GRCh38]
Chr12:77449786 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.1810G>A (p.Glu604Lys) single nucleotide variant not specified [RCV004309262] Chr12:77029905 [GRCh38]
Chr12:77423685 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.1520C>T (p.Thr507Met) single nucleotide variant not specified [RCV004267283] Chr12:77030195 [GRCh38]
Chr12:77423975 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.2168C>T (p.Ser723Phe) single nucleotide variant not specified [RCV004276898] Chr12:77025955 [GRCh38]
Chr12:77419735 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.2509C>A (p.Gln837Lys) single nucleotide variant not specified [RCV004269421] Chr12:77025614 [GRCh38]
Chr12:77419394 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.1375A>T (p.Asn459Tyr) single nucleotide variant not specified [RCV004329313] Chr12:77033057 [GRCh38]
Chr12:77426837 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.494C>A (p.Thr165Asn) single nucleotide variant not specified [RCV004339348] Chr12:77050620 [GRCh38]
Chr12:77444400 [GRCh37]
Chr12:12q21.2		 uncertain significance
GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1 copy number loss not specified [RCV003986972] Chr12:74887087..90469800 [GRCh37]
Chr12:12q21.1-21.33		 pathogenic
GRCh37/hg19 12q21.1-21.31(chr12:73466055-82398026)x1 copy number loss not specified [RCV003986983] Chr12:73466055..82398026 [GRCh37]
Chr12:12q21.1-21.31		 uncertain significance
NM_203394.3(E2F7):c.1693C>A (p.Pro565Thr) single nucleotide variant not specified [RCV004382137] Chr12:77030022 [GRCh38]
Chr12:77423802 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.1807C>G (p.Gln603Glu) single nucleotide variant not specified [RCV004382138] Chr12:77029908 [GRCh38]
Chr12:77423688 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.242G>C (p.Trp81Ser) single nucleotide variant not specified [RCV004382142] Chr12:77055982 [GRCh38]
Chr12:77449762 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.2135C>T (p.Pro712Leu) single nucleotide variant not specified [RCV004382139] Chr12:77027888 [GRCh38]
Chr12:77421668 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.123G>A (p.Met41Ile) single nucleotide variant not specified [RCV004382135] Chr12:77056101 [GRCh38]
Chr12:77449881 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.469C>T (p.Arg157Cys) single nucleotide variant not specified [RCV004382145] Chr12:77050645 [GRCh38]
Chr12:77444425 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.1231T>C (p.Phe411Leu) single nucleotide variant not specified [RCV004382134] Chr12:77033935 [GRCh38]
Chr12:77427715 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.380T>G (p.Val127Gly) single nucleotide variant not specified [RCV004382144] Chr12:77050734 [GRCh38]
Chr12:77444514 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.802G>A (p.Asp268Asn) single nucleotide variant not specified [RCV004382146] Chr12:77046065 [GRCh38]
Chr12:77439845 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.231A>C (p.Gln77His) single nucleotide variant not specified [RCV004382140] Chr12:77055993 [GRCh38]
Chr12:77449773 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.1397C>T (p.Ala466Val) single nucleotide variant not specified [RCV004382136] Chr12:77030318 [GRCh38]
Chr12:77424098 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_203394.3(E2F7):c.2530G>A (p.Val844Met) single nucleotide variant not specified [RCV004382143] Chr12:77025593 [GRCh38]
Chr12:77419373 [GRCh37]
Chr12:12q21.2		 likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR26A1hsa-miR-26a-5pMirtarbaseexternal_infoChIP-seq//Immunoblot//Immunofluorescence//Functional MTI (Weak)23096114
MIR26A2hsa-miR-26a-5pMirtarbaseexternal_infoChIP-seq//Immunoblot//Immunofluorescence//Functional MTI (Weak)23096114

Predicted Target Of
Summary Value
Count of predictions:2670
Count of miRNA genes:966
Interacting mature miRNAs:1131
Transcripts:ENST00000322886, ENST00000416496, ENST00000547316, ENST00000550669, ENST00000551058, ENST00000551558, ENST00000552907
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.

Markers in Region
RH119742  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371277,426,573 - 77,426,922UniSTSGRCh37
Build 361275,950,704 - 75,951,053RGDNCBI36
Celera1277,092,020 - 77,092,369RGD
Cytogenetic Map12q21.2UniSTS
HuRef1274,479,362 - 74,479,711UniSTS
TNG Radiation Hybrid Map1236014.0UniSTS
SHGC-148227  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371277,427,058 - 77,427,391UniSTSGRCh37
Build 361275,951,189 - 75,951,522RGDNCBI36
Celera1277,092,505 - 77,092,838RGD
Cytogenetic Map12q21.2UniSTS
HuRef1274,479,847 - 74,480,180UniSTS
TNG Radiation Hybrid Map1235967.0UniSTS
E2F7__7198  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371277,414,957 - 77,415,867UniSTSGRCh37
Build 361275,939,088 - 75,939,998RGDNCBI36
Celera1277,080,403 - 77,081,313RGD
HuRef1274,467,746 - 74,468,656UniSTS


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 101 6 25 16 510 19 250 43 87 68 167 219 9 2
Low 476 106 316 144 490 111 891 32 308 94 680 399 38 1 38 446 4 1
Below cutoff 1739 2706 1306 408 857 280 2958 1860 3169 207 590 974 127 1118 2108

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_203394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC025161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC079030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI380315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB159890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000322886   ⟹   ENSP00000323246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1277,021,251 - 77,065,569 (-)Ensembl
RefSeq Acc Id: ENST00000416496   ⟹   ENSP00000393639
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1277,021,248 - 77,065,563 (-)Ensembl
RefSeq Acc Id: ENST00000547316   ⟹   ENSP00000449033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1277,055,878 - 77,065,550 (-)Ensembl
RefSeq Acc Id: ENST00000550669   ⟹   ENSP00000448245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1277,027,944 - 77,065,567 (-)Ensembl
RefSeq Acc Id: ENST00000551058   ⟹   ENSP00000449284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1277,044,534 - 77,050,746 (-)Ensembl
RefSeq Acc Id: ENST00000551558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1277,045,622 - 77,065,563 (-)Ensembl
RefSeq Acc Id: ENST00000552907   ⟹   ENSP00000447963
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1277,034,006 - 77,050,741 (-)Ensembl
RefSeq Acc Id: NM_203394   ⟹   NP_976328
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381277,021,251 - 77,065,569 (-)NCBI
GRCh371277,415,026 - 77,459,360 (-)ENTREZGENE
Build 361275,939,157 - 75,983,491 (-)NCBI Archive
HuRef1274,467,815 - 74,512,166 (-)ENTREZGENE
CHM1_11277,380,867 - 77,425,221 (-)NCBI
T2T-CHM13v2.01276,999,082 - 77,043,421 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011537966   ⟹   XP_011536268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381277,021,251 - 77,065,569 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011537969   ⟹   XP_011536271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381277,021,251 - 77,056,130 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054371191   ⟹   XP_054227166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01276,999,082 - 77,043,421 (-)NCBI
RefSeq Acc Id: XM_054371192   ⟹   XP_054227167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01276,999,082 - 77,033,980 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_976328   ⟸   NM_203394
- UniProtKB: B3KUP8 (UniProtKB/Swiss-Prot),   B3KTZ5 (UniProtKB/Swiss-Prot),   B2RMR7 (UniProtKB/Swiss-Prot),   A6NC74 (UniProtKB/Swiss-Prot),   B5MED9 (UniProtKB/Swiss-Prot),   Q96AV8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011536268   ⟸   XM_011537966
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011536271   ⟸   XM_011537969
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000449033   ⟸   ENST00000547316
RefSeq Acc Id: ENSP00000323246   ⟸   ENST00000322886
RefSeq Acc Id: ENSP00000393639   ⟸   ENST00000416496
RefSeq Acc Id: ENSP00000448245   ⟸   ENST00000550669
RefSeq Acc Id: ENSP00000449284   ⟸   ENST00000551058
RefSeq Acc Id: ENSP00000447963   ⟸   ENST00000552907
RefSeq Acc Id: XP_054227166   ⟸   XM_054371191
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054227167   ⟸   XM_054371192
- Peptide Label: isoform X2
Protein Domains
E2F/DP family winged-helix DNA-binding

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96AV8-F1-model_v2 AlphaFold Q96AV8 1-911 view protein structure

Promoters
RGD ID:6789882
Promoter ID:HG_KWN:16204
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid
Transcripts:NM_203394,   UC001SYN.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361275,983,346 - 75,984,012 (-)MPROMDB
RGD ID:7224881
Promoter ID:EPDNEW_H18186
Type:initiation region
Name:E2F7_1
Description:E2F transcription factor 7
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
GRCh381277,065,553 - 77,065,613EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23820 AgrOrtholog
COSMIC E2F7 COSMIC
Ensembl Genes ENSG00000165891 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000322886 ENTREZGENE
  ENST00000322886.12 UniProtKB/Swiss-Prot
  ENST00000416496.6 UniProtKB/Swiss-Prot
  ENST00000547316.1 UniProtKB/TrEMBL
  ENST00000550669.5 UniProtKB/TrEMBL
  ENST00000551058.1 UniProtKB/TrEMBL
  ENST00000552907.5 UniProtKB/TrEMBL
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000165891 GTEx
HGNC ID HGNC:23820 ENTREZGENE
Human Proteome Map E2F7 Human Proteome Map
InterPro E2F UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  E2F_WHTH_DNA-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:144455 UniProtKB/Swiss-Prot
NCBI Gene 144455 ENTREZGENE
OMIM 612046 OMIM
PANTHER PTHR12081 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSCRIPTION FACTOR E2F7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam E2F_TDP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134894421 PharmGKB
SMART E2F_TDP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A6NC74 ENTREZGENE
  B2RMR7 ENTREZGENE
  B3KTZ5 ENTREZGENE
  B3KUP8 ENTREZGENE
  B5MED9 ENTREZGENE
  E2F7_HUMAN UniProtKB/Swiss-Prot
  F8VSE7_HUMAN UniProtKB/TrEMBL
  F8VXV5_HUMAN UniProtKB/TrEMBL
  H0YHW2_HUMAN UniProtKB/TrEMBL
  H0YIF4_HUMAN UniProtKB/TrEMBL
  Q96AV8 ENTREZGENE
UniProt Secondary A6NC74 UniProtKB/Swiss-Prot
  B2RMR7 UniProtKB/Swiss-Prot
  B3KTZ5 UniProtKB/Swiss-Prot
  B3KUP8 UniProtKB/Swiss-Prot
  B5MED9 UniProtKB/Swiss-Prot