EIF3E (eukaryotic translation initiation factor 3 subunit E) - Rat Genome Database

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Gene: EIF3E (eukaryotic translation initiation factor 3 subunit E) Homo sapiens
Analyze
Symbol: EIF3E
Name: eukaryotic translation initiation factor 3 subunit E
RGD ID: 1323023
HGNC Page HGNC:3277
Description: Enables RNA binding activity and cadherin binding activity. Contributes to translation initiation factor activity. Involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; positive regulation of translation; and translational initiation. Located in PML body and cytosol. Part of eukaryotic translation initiation factor 3 complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: eIF-3 p48; eIF3-p46; EIF3-P48; EIF3S6; eukaryotic translation initiation factor 3 subunit 6; eukaryotic translation initiation factor 3 subunit E isoform 2 transcript; eukaryotic translation initiation factor 3, subunit 6 (48kD); eukaryotic translation initiation factor 3, subunit 6 48kDa; eukaryotic translation initiation factor 3, subunit E; INT6; mammary tumor-associated protein INT6; murine mammary tumor integration site 6 (oncogene homolog); viral integration site protein INT-6 homolog
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: EIF3EP1   EIF3EP2   EIF3EP3   EIF3EP4  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388108,201,216 - 108,248,717 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8108,162,787 - 108,443,496 (-)EnsemblGRCh38hg38GRCh38
GRCh378109,213,445 - 109,260,946 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368109,283,148 - 109,330,135 (-)NCBINCBI36Build 36hg18NCBI36
Build 348109,283,148 - 109,330,128NCBI
Celera8105,401,123 - 105,448,104 (-)NCBICelera
Cytogenetic Map8q23.1NCBI
HuRef8104,535,352 - 104,582,408 (-)NCBIHuRef
CHM1_18109,254,211 - 109,301,195 (-)NCBICHM1_1
T2T-CHM13v2.08109,329,722 - 109,377,212 (-)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
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. The scanning mechanism of eukaryotic translation initiation. Hinnebusch AG Annu Rev Biochem. 2014;83:779-812. doi: 10.1146/annurev-biochem-060713-035802. Epub 2014 Jan 29.
2. Int6 silencing causes induction of angiogenic factors in neuronal cells via accumulation of hypoxia-inducible factor 2alpha and decreases brain damage in rats. Miyashita R, etal., Neurosci Lett. 2012 Oct 18;528(1):83-8. doi: 10.1016/j.neulet.2012.08.033. Epub 2012 Aug 28.
3. Silencing of int6 gene restores function of the ischaemic hindlimb in a rat model of peripheral arterial disease. Okamoto N, etal., Cardiovasc Res. 2011 Nov 1;92(2):209-17. doi: 10.1093/cvr/cvr203. Epub 2011 Jul 19.
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8688078   PMID:8995409   PMID:8995410   PMID:9295280   PMID:9403073   PMID:9822659   PMID:10504338   PMID:10644362   PMID:11118224   PMID:11121040   PMID:11590142   PMID:12220626  
PMID:12386384   PMID:12435599   PMID:12477932   PMID:12553909   PMID:12588972   PMID:14519125   PMID:14667819   PMID:14702039   PMID:15030549   PMID:15231748   PMID:15489334   PMID:15558017  
PMID:15592455   PMID:15862967   PMID:15867213   PMID:16045761   PMID:16169070   PMID:16189514   PMID:16343815   PMID:16766523   PMID:16920360   PMID:17220478   PMID:17310990   PMID:17322308  
PMID:17324924   PMID:17353931   PMID:17403899   PMID:17468741   PMID:17516841   PMID:17581632   PMID:18029348   PMID:18157088   PMID:18562274   PMID:18599441   PMID:18628297   PMID:19454010  
PMID:19615732   PMID:19738201   PMID:19748344   PMID:19946888   PMID:20360068   PMID:20434207   PMID:20453879   PMID:20458337   PMID:20462248   PMID:20890303   PMID:21081503   PMID:21319273  
PMID:21516116   PMID:21732829   PMID:21745818   PMID:21873635   PMID:21988832   PMID:22190034   PMID:22268729   PMID:22508697   PMID:22532700   PMID:22553336   PMID:22586326   PMID:22623428  
PMID:22681889   PMID:22863883   PMID:22907435   PMID:22939629   PMID:23125841   PMID:23184937   PMID:23402259   PMID:23463506   PMID:23478175   PMID:23623729   PMID:24092755   PMID:24248602  
PMID:24481065   PMID:24705354   PMID:24736843   PMID:24778252   PMID:24981860   PMID:25064007   PMID:25147182   PMID:25315684   PMID:25400724   PMID:25416956   PMID:25468996   PMID:25476789  
PMID:25737280   PMID:25758454   PMID:25849773   PMID:25921289   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26549023   PMID:26618866   PMID:26673895   PMID:26777405   PMID:26831064  
PMID:27173435   PMID:27248496   PMID:27342126   PMID:27432908   PMID:27477275   PMID:27512140   PMID:27550454   PMID:27591049   PMID:27684187   PMID:28302793   PMID:28438065   PMID:28514442  
PMID:28515276   PMID:28524877   PMID:28581483   PMID:28685749   PMID:28902428   PMID:29128334   PMID:29180619   PMID:29228324   PMID:29229926   PMID:29395067   PMID:29467282   PMID:29491746  
PMID:29507755   PMID:29509190   PMID:29653964   PMID:29778605   PMID:29795372   PMID:29844126   PMID:29845934   PMID:29871559   PMID:30196744   PMID:30209976   PMID:30279242   PMID:30320910  
PMID:30442662   PMID:30462309   PMID:30463901   PMID:30575818   PMID:30809309   PMID:30833792   PMID:30884312   PMID:30916365   PMID:30948266   PMID:31048545   PMID:31091453   PMID:31363146  
PMID:31470122   PMID:31515488   PMID:31519766   PMID:31527615   PMID:31527668   PMID:31586073   PMID:31980649   PMID:31995728   PMID:32129710   PMID:32176739   PMID:32269044   PMID:32296183  
PMID:32589965   PMID:32665550   PMID:32680882   PMID:32687490   PMID:32707033   PMID:32780723   PMID:32807901   PMID:32814053   PMID:32867821   PMID:32994395   PMID:33022573   PMID:33060197  
PMID:33239621   PMID:33306668   PMID:33660365   PMID:33742100   PMID:33863777   PMID:33930296   PMID:33961781   PMID:34133714   PMID:34191006   PMID:34316702   PMID:34349018   PMID:34373319  
PMID:34373451   PMID:34662580   PMID:34672954   PMID:34728620   PMID:34901782   PMID:35013218   PMID:35013556   PMID:35032548   PMID:35122331   PMID:35140242   PMID:35235311   PMID:35256949  
PMID:35271311   PMID:35439318   PMID:35446349   PMID:35509820   PMID:35563538   PMID:35776542   PMID:35831314   PMID:35850772   PMID:35906200   PMID:35915203   PMID:35944360   PMID:36114006  
PMID:36215168   PMID:36424410   PMID:36517590   PMID:36526897   PMID:36736316   PMID:36880596   PMID:37039823   PMID:37071682   PMID:37167062   PMID:37223481   PMID:37314180   PMID:37314216  
PMID:37317656   PMID:37689310   PMID:37827155   PMID:37866880   PMID:38113892   PMID:38124661   PMID:38334954  


Genomics

Comparative Map Data
EIF3E
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388108,201,216 - 108,248,717 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8108,162,787 - 108,443,496 (-)EnsemblGRCh38hg38GRCh38
GRCh378109,213,445 - 109,260,946 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368109,283,148 - 109,330,135 (-)NCBINCBI36Build 36hg18NCBI36
Build 348109,283,148 - 109,330,128NCBI
Celera8105,401,123 - 105,448,104 (-)NCBICelera
Cytogenetic Map8q23.1NCBI
HuRef8104,535,352 - 104,582,408 (-)NCBIHuRef
CHM1_18109,254,211 - 109,301,195 (-)NCBICHM1_1
T2T-CHM13v2.08109,329,722 - 109,377,212 (-)NCBIT2T-CHM13v2.0
Eif3e
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391543,113,436 - 43,146,132 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1543,113,454 - 43,146,115 (-)EnsemblGRCm39 Ensembl
GRCm381543,250,040 - 43,282,736 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1543,250,058 - 43,282,719 (-)EnsemblGRCm38mm10GRCm38
MGSCv371543,081,586 - 43,114,282 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361543,080,127 - 43,112,771 (-)NCBIMGSCv36mm8
Celera1543,733,344 - 43,766,034 (-)NCBICelera
Cytogenetic Map15B3.2NCBI
cM Map1516.73NCBI
Eif3e
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8776,224,567 - 76,257,346 (-)NCBIGRCr8
mRatBN7.2774,339,848 - 74,372,483 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl774,339,828 - 74,373,096 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx776,191,489 - 76,224,165 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0778,393,972 - 78,426,652 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0778,262,071 - 78,294,759 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.013100,129,757 - 100,162,596 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl13100,129,761 - 100,162,461 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.013105,112,034 - 105,144,806 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera771,344,789 - 71,377,414 (-)NCBICelera
Cytogenetic Map7q31NCBI
Eif3e
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541730,822,027 - 30,858,975 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541730,823,555 - 30,858,975 (-)NCBIChiLan1.0ChiLan1.0
EIF3E
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27125,571,964 - 125,619,087 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan18101,095,253 - 101,142,373 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v08104,848,222 - 104,895,349 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.18106,996,244 - 107,043,318 (-)NCBIpanpan1.1PanPan1.1panPan2
EIF3E
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1138,834,724 - 8,887,818 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl138,834,821 - 8,887,760 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha138,807,247 - 8,860,343 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0139,108,531 - 9,161,638 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl139,097,850 - 9,161,614 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1138,851,894 - 8,904,969 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0138,975,736 - 9,028,816 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0139,056,970 - 9,110,052 (-)NCBIUU_Cfam_GSD_1.0
Eif3e
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530329,130,486 - 29,172,976 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647036,556,599 - 36,599,264 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647036,556,666 - 36,599,075 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EIF3E
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl429,264,042 - 29,352,902 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1429,288,878 - 29,343,593 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2431,681,789 - 31,731,604 (+)NCBISscrofa10.2Sscrofa10.2susScr3
EIF3E
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18102,915,111 - 102,960,669 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl8102,915,252 - 102,960,559 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603937,620,704 - 37,668,766 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Eif3e
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476323,256,498 - 23,294,299 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476323,256,617 - 23,294,346 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in EIF3E
6 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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 8q23.1-23.2(chr8:107356178-110913494)x3 copy number gain See cases [RCV000052185] Chr8:107356178..110913494 [GRCh38]
Chr8:108368406..111925723 [GRCh37]
Chr8:108437582..111994899 [NCBI36]
Chr8:8q23.1-23.2		 uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3		 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 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23		 pathogenic|likely pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1 copy number loss See cases [RCV000138134] Chr8:101171263..109127664 [GRCh38]
Chr8:102183491..110139893 [GRCh37]
Chr8:102252667..110209069 [NCBI36]
Chr8:8q22.3-23.1		 pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3		 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 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3		 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3		 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 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 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic|likely 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 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3		 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 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 copy number gain See cases [RCV002285066] Chr8:84712253..146295771 [GRCh37]
Chr8:8q21.2-24.3		 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 8q23.1-23.2(chr8:109214531-110868812)x3 copy number gain See cases [RCV000446663] Chr8:109214531..110868812 [GRCh37]
Chr8:8q23.1-23.2		 uncertain significance
GRCh37/hg19 8q23.1-24.12(chr8:107032887-120742018)x1 copy number loss See cases [RCV000448650] Chr8:107032887..120742018 [GRCh37]
Chr8:8q23.1-24.12		 pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
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 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3		 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 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
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 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3		 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
GRCh37/hg19 8q23.1(chr8:109228008-109239043)x1 copy number loss not provided [RCV000747766] Chr8:109228008..109239043 [GRCh37]
Chr8:8q23.1		 benign
GRCh37/hg19 8q23.1(chr8:109235872-109237800)x1 copy number loss not provided [RCV000747767] Chr8:109235872..109237800 [GRCh37]
Chr8:8q23.1		 benign
GRCh37/hg19 8q22.3-23.3(chr8:104437051-114170843)x1 copy number loss not provided [RCV000847013] Chr8:104437051..114170843 [GRCh37]
Chr8:8q22.3-23.3		 uncertain significance
GRCh37/hg19 8q23.1(chr8:109027316-109787856)x3 copy number gain not provided [RCV000849255] Chr8:109027316..109787856 [GRCh37]
Chr8:8q23.1		 uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 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
GRCh37/hg19 8q23.1-24.13(chr8:108421573-123429638)x3 copy number gain not provided [RCV001259025] Chr8:108421573..123429638 [GRCh37]
Chr8:8q23.1-24.13		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q23.1-24.12(chr8:107032887-120742018) copy number loss not specified [RCV002053793] Chr8:107032887..120742018 [GRCh37]
Chr8:8q23.1-24.12		 pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
GRCh37/hg19 8q23.1(chr8:109177188-109403782)x3 copy number gain not provided [RCV001834437] Chr8:109177188..109403782 [GRCh37]
Chr8:8q23.1		 uncertain significance
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) copy number gain not provided [RCV002221452] Chr8:96496503..146295711 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3 copy number gain not provided [RCV002474526] Chr8:79409349..119040631 [GRCh37]
Chr8:8q21.12-24.11		 pathogenic
NM_001568.3(EIF3E):c.1072G>C (p.Asp358His) single nucleotide variant not specified [RCV004091284] Chr8:108203493 [GRCh38]
Chr8:109215722 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001568.3(EIF3E):c.25C>T (p.Arg9Cys) single nucleotide variant not provided [RCV003331518] Chr8:108248678 [GRCh38]
Chr8:109260907 [GRCh37]
Chr8:8q23.1		 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
NM_001568.3(EIF3E):c.56T>G (p.Val19Gly) single nucleotide variant not specified [RCV004377787] Chr8:108248647 [GRCh38]
Chr8:109260876 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001568.3(EIF3E):c.35A>C (p.His12Pro) single nucleotide variant not specified [RCV004377786] Chr8:108248668 [GRCh38]
Chr8:109260897 [GRCh37]
Chr8:8q23.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1793
Count of miRNA genes:819
Interacting mature miRNAs:957
Transcripts:ENST00000220849, ENST00000518100, ENST00000518345, ENST00000518442, ENST00000518634, ENST00000519030, ENST00000519413, ENST00000519517, ENST00000519627, ENST00000521297, ENST00000521440, ENST00000521614, ENST00000522088, ENST00000522352, ENST00000522445, ENST00000522887, ENST00000523646, ENST00000523674
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
407317606GWAS966582_Hblood protein measurement QTL GWAS966582 (human)0.0000002blood protein measurementblood protein measurement (CMO:0000028)8108229593108229594Human
406997947GWAS646923_Hforced expiratory volume QTL GWAS646923 (human)7e-11forced expiratory volumeforced expiratory volume (CMO:0000254)8108243503108243504Human
407067146GWAS716122_HDupuytren Contracture QTL GWAS716122 (human)1e-32Dupuytren Contracture8108215779108215780Human
407024328GWAS673304_HDupuytren Contracture QTL GWAS673304 (human)8e-15Dupuytren Contracture8108215779108215780Human
406978588GWAS627564_Hheel bone mineral density QTL GWAS627564 (human)9e-16heel bone mineral densitybone mineral density (CMO:0001226)8108215779108215780Human

Markers in Region
RH47662  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378109,244,264 - 109,244,403UniSTSGRCh37
Build 368109,313,440 - 109,313,579RGDNCBI36
Celera8105,431,409 - 105,431,548RGD
Cytogenetic Map8q22-q23UniSTS
HuRef8104,565,642 - 104,565,781UniSTS
GeneMap99-GB4 RH Map8445.79UniSTS
STS-N21321  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378109,243,120 - 109,243,313UniSTSGRCh37
Build 368109,312,296 - 109,312,489RGDNCBI36
Celera8105,430,265 - 105,430,458RGD
Cytogenetic Map8q22-q23UniSTS
HuRef8104,564,498 - 104,564,691UniSTS
GeneMap99-GB4 RH Map8445.99UniSTS
RH27221  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372165,430,079 - 165,430,242UniSTSGRCh37
GRCh378109,214,020 - 109,215,243UniSTSGRCh37
Build 362165,138,325 - 165,138,488RGDNCBI36
Celera8105,401,171 - 105,402,394UniSTS
Celera2159,039,951 - 159,040,114RGD
Cytogenetic Map2q22-q24UniSTS
Cytogenetic Map8q22-q23UniSTS
HuRef8104,535,400 - 104,536,623UniSTS
HuRef2157,312,521 - 157,312,684UniSTS
SHGC-79010  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378109,228,120 - 109,228,411UniSTSGRCh37
Build 368109,297,296 - 109,297,587RGDNCBI36
Celera8105,415,266 - 105,415,557RGD
Cytogenetic Map8q22-q23UniSTS
HuRef8104,549,501 - 104,549,792UniSTS
TNG Radiation Hybrid Map852817.0UniSTS
RH118844  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378109,220,215 - 109,220,419UniSTSGRCh37
GRCh378109,220,132 - 109,220,419UniSTSGRCh37
Build 368109,289,308 - 109,289,595RGDNCBI36
Celera8105,407,361 - 105,407,565UniSTS
Celera8105,407,278 - 105,407,565RGD
Cytogenetic Map8q22-q23UniSTS
HuRef8104,541,511 - 104,541,798UniSTS
HuRef8104,541,594 - 104,541,798UniSTS
TNG Radiation Hybrid Map852812.0UniSTS
ECD12775  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37674,002,460 - 74,002,994UniSTSGRCh37
Build 36674,059,181 - 74,059,715RGDNCBI36
Celera674,397,003 - 74,397,537RGD
Cytogenetic Map8q22-q23UniSTS
Cytogenetic Map6q13UniSTS
HuRef671,201,298 - 71,201,832UniSTS
G19931  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37674,001,756 - 74,001,857UniSTSGRCh37
Build 36674,058,477 - 74,058,578RGDNCBI36
Celera674,396,299 - 74,396,400RGD
Cytogenetic Map8q22-q23UniSTS
Cytogenetic Map6q13UniSTS
HuRef671,200,594 - 71,200,695UniSTS
A002C29  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37674,001,756 - 74,001,857UniSTSGRCh37
Build 36674,058,477 - 74,058,578RGDNCBI36
Celera674,396,299 - 74,396,400RGD
Cytogenetic Map8q22-q23UniSTS
Cytogenetic Map6q13UniSTS
HuRef671,200,594 - 71,200,695UniSTS
GeneMap99-GB4 RH Map6315.3UniSTS
REN32267  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37674,001,964 - 74,002,220UniSTSGRCh37
Build 36674,058,685 - 74,058,941RGDNCBI36
Celera674,396,507 - 74,396,763RGD
Cytogenetic Map8q22-q23UniSTS
Cytogenetic Map6q13UniSTS
HuRef671,200,802 - 71,201,058UniSTS
REN32268  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37674,002,212 - 74,002,467UniSTSGRCh37
Build 36674,058,933 - 74,059,188RGDNCBI36
Celera674,396,755 - 74,397,010RGD
Cytogenetic Map8q22-q23UniSTS
Cytogenetic Map6q13UniSTS
HuRef671,201,050 - 71,201,305UniSTS
RH36368  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378109,235,161 - 109,235,261UniSTSGRCh37
Build 368109,304,337 - 109,304,437RGDNCBI36
Celera8105,422,307 - 105,422,407RGD
Cytogenetic Map8q22-q23UniSTS
HuRef8104,556,540 - 104,556,640UniSTS
GeneMap99-GB4 RH Map8445.68UniSTS
RH44515  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37674,002,035 - 74,002,123UniSTSGRCh37
Build 36674,058,756 - 74,058,844RGDNCBI36
Celera674,396,578 - 74,396,666RGD
Cytogenetic Map8q22-q23UniSTS
Cytogenetic Map6q13UniSTS
HuRef671,200,873 - 71,200,961UniSTS
GeneMap99-GB4 RH Map6330.75UniSTS
D6S1876  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37674,002,780 - 74,003,003UniSTSGRCh37
GRCh378109,214,111 - 109,215,677UniSTSGRCh37
Build 36674,059,501 - 74,059,724RGDNCBI36
Celera8105,401,262 - 105,402,828UniSTS
Celera674,397,323 - 74,397,546RGD
Cytogenetic Map6q13UniSTS
Cytogenetic Map8q22-q23UniSTS
HuRef8104,535,491 - 104,537,035UniSTS
HuRef671,201,618 - 71,201,841UniSTS
GeneMap99-GB4 RH Map6310.55UniSTS
GeneMap99-GB4 RH Map6331.09UniSTS
Whitehead-RH Map6506.4UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC087620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG498300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC333871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U54562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U62962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U85947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U94175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000220849   ⟹   ENSP00000220849
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,201,216 - 108,248,717 (-)Ensembl
Ensembl Acc Id: ENST00000518100   ⟹   ENSP00000429327
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,201,740 - 108,248,716 (-)Ensembl
Ensembl Acc Id: ENST00000518345   ⟹   ENSP00000430678
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,201,759 - 108,248,730 (-)Ensembl
Ensembl Acc Id: ENST00000518442
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,234,284 - 108,248,802 (-)Ensembl
Ensembl Acc Id: ENST00000518634
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,241,893 - 108,355,726 (-)Ensembl
Ensembl Acc Id: ENST00000519030   ⟹   ENSP00000428796
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,201,745 - 108,248,733 (-)Ensembl
Ensembl Acc Id: ENST00000519413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,216,476 - 108,227,932 (-)Ensembl
Ensembl Acc Id: ENST00000519517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,203,470 - 108,231,908 (-)Ensembl
Ensembl Acc Id: ENST00000519627   ⟹   ENSP00000430839
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,201,745 - 108,248,726 (-)Ensembl
Ensembl Acc Id: ENST00000521297   ⟹   ENSP00000429968
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,201,743 - 108,248,719 (-)Ensembl
Ensembl Acc Id: ENST00000521440   ⟹   ENSP00000430152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,233,394 - 108,248,727 (-)Ensembl
Ensembl Acc Id: ENST00000521614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,201,854 - 108,243,445 (-)Ensembl
Ensembl Acc Id: ENST00000522088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,309,022 - 108,435,333 (-)Ensembl
Ensembl Acc Id: ENST00000522352   ⟹   ENSP00000428170
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,201,743 - 108,248,720 (-)Ensembl
Ensembl Acc Id: ENST00000522445   ⟹   ENSP00000430709
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,201,777 - 108,248,718 (-)Ensembl
Ensembl Acc Id: ENST00000522887   ⟹   ENSP00000430649
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,235,054 - 108,248,717 (-)Ensembl
Ensembl Acc Id: ENST00000523646
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,228,177 - 108,229,398 (-)Ensembl
Ensembl Acc Id: ENST00000523674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,201,216 - 108,248,719 (-)Ensembl
Ensembl Acc Id: ENST00000676487   ⟹   ENSP00000503785
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,230,725 - 108,443,474 (-)Ensembl
Ensembl Acc Id: ENST00000676530
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,201,883 - 108,243,593 (-)Ensembl
Ensembl Acc Id: ENST00000676548   ⟹   ENSP00000504326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,230,514 - 108,248,730 (-)Ensembl
Ensembl Acc Id: ENST00000676642   ⟹   ENSP00000503038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,201,794 - 108,248,716 (-)Ensembl
Ensembl Acc Id: ENST00000676663   ⟹   ENSP00000504047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,201,827 - 108,443,460 (-)Ensembl
Ensembl Acc Id: ENST00000676698   ⟹   ENSP00000503133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,201,743 - 108,248,730 (-)Ensembl
Ensembl Acc Id: ENST00000676706   ⟹   ENSP00000503667
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,201,732 - 108,248,726 (-)Ensembl
Ensembl Acc Id: ENST00000676892   ⟹   ENSP00000503531
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,201,216 - 108,248,775 (-)Ensembl
Ensembl Acc Id: ENST00000676931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,228,315 - 108,242,233 (-)Ensembl
Ensembl Acc Id: ENST00000677040   ⟹   ENSP00000504521
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,201,743 - 108,443,474 (-)Ensembl
Ensembl Acc Id: ENST00000677084   ⟹   ENSP00000504517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,201,403 - 108,443,453 (-)Ensembl
Ensembl Acc Id: ENST00000677215
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,303,355 - 108,443,465 (-)Ensembl
Ensembl Acc Id: ENST00000677272   ⟹   ENSP00000504529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,201,878 - 108,248,719 (-)Ensembl
Ensembl Acc Id: ENST00000677317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,201,882 - 108,217,921 (-)Ensembl
Ensembl Acc Id: ENST00000677409   ⟹   ENSP00000504815
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,201,208 - 108,443,475 (-)Ensembl
Ensembl Acc Id: ENST00000677447   ⟹   ENSP00000504306
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,230,122 - 108,248,730 (-)Ensembl
Ensembl Acc Id: ENST00000677458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,337,365 - 108,443,488 (-)Ensembl
Ensembl Acc Id: ENST00000677501
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,201,743 - 108,243,662 (-)Ensembl
Ensembl Acc Id: ENST00000677524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,201,827 - 108,217,092 (-)Ensembl
Ensembl Acc Id: ENST00000677590
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,201,874 - 108,248,531 (-)Ensembl
Ensembl Acc Id: ENST00000677614   ⟹   ENSP00000504788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,201,794 - 108,443,470 (-)Ensembl
Ensembl Acc Id: ENST00000677674   ⟹   ENSP00000503434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,201,216 - 108,248,719 (-)Ensembl
Ensembl Acc Id: ENST00000677696
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,201,910 - 108,230,430 (-)Ensembl
Ensembl Acc Id: ENST00000677746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,226,483 - 108,248,705 (-)Ensembl
Ensembl Acc Id: ENST00000677965
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,201,794 - 108,248,710 (-)Ensembl
Ensembl Acc Id: ENST00000678004   ⟹   ENSP00000503071
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,201,856 - 108,248,718 (-)Ensembl
Ensembl Acc Id: ENST00000678023   ⟹   ENSP00000502937
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,201,793 - 108,443,419 (-)Ensembl
Ensembl Acc Id: ENST00000678042   ⟹   ENSP00000503596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,162,787 - 108,248,724 (-)Ensembl
Ensembl Acc Id: ENST00000678243   ⟹   ENSP00000503845
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,201,823 - 108,248,718 (-)Ensembl
Ensembl Acc Id: ENST00000678334   ⟹   ENSP00000503856
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,201,793 - 108,443,496 (-)Ensembl
Ensembl Acc Id: ENST00000678472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,308,638 - 108,443,475 (-)Ensembl
Ensembl Acc Id: ENST00000678773   ⟹   ENSP00000504386
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,200,551 - 108,248,730 (-)Ensembl
Ensembl Acc Id: ENST00000678797   ⟹   ENSP00000504851
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,201,794 - 108,443,483 (-)Ensembl
Ensembl Acc Id: ENST00000678881   ⟹   ENSP00000504404
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,201,870 - 108,443,439 (-)Ensembl
Ensembl Acc Id: ENST00000678887
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,380,319 - 108,443,475 (-)Ensembl
Ensembl Acc Id: ENST00000678901   ⟹   ENSP00000502918
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,201,813 - 108,248,718 (-)Ensembl
Ensembl Acc Id: ENST00000678937   ⟹   ENSP00000503965
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,201,216 - 108,248,717 (-)Ensembl
Ensembl Acc Id: ENST00000679009
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,234,872 - 108,236,907 (-)Ensembl
Ensembl Acc Id: ENST00000679198   ⟹   ENSP00000503334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,201,827 - 108,443,438 (-)Ensembl
RefSeq Acc Id: NM_001568   ⟹   NP_001559
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388108,201,216 - 108,248,717 (-)NCBI
GRCh378109,213,972 - 109,260,959 (-)ENTREZGENE
Build 368109,283,148 - 109,330,135 (-)NCBI Archive
HuRef8104,535,352 - 104,582,408 (-)ENTREZGENE
CHM1_18109,254,211 - 109,301,195 (-)NCBI
T2T-CHM13v2.08109,329,722 - 109,377,212 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001559 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB58251 (Get FASTA)   NCBI Sequence Viewer  
  AAB88873 (Get FASTA)   NCBI Sequence Viewer  
  AAC51760 (Get FASTA)   NCBI Sequence Viewer  
  AAC51917 (Get FASTA)   NCBI Sequence Viewer  
  AAC51919 (Get FASTA)   NCBI Sequence Viewer  
  AAH00734 (Get FASTA)   NCBI Sequence Viewer  
  AAH08419 (Get FASTA)   NCBI Sequence Viewer  
  AAH16706 (Get FASTA)   NCBI Sequence Viewer  
  AAH17887 (Get FASTA)   NCBI Sequence Viewer  
  AAH21679 (Get FASTA)   NCBI Sequence Viewer  
  AGW27411 (Get FASTA)   NCBI Sequence Viewer  
  BAG36003 (Get FASTA)   NCBI Sequence Viewer  
  BAG54018 (Get FASTA)   NCBI Sequence Viewer  
  CAG33310 (Get FASTA)   NCBI Sequence Viewer  
  CAG47071 (Get FASTA)   NCBI Sequence Viewer  
  EAW91918 (Get FASTA)   NCBI Sequence Viewer  
  EAW91919 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000220849
  ENSP00000220849.5
  ENSP00000428170.2
  ENSP00000428796.1
  ENSP00000429327.1
  ENSP00000429968.2
  ENSP00000430152.2
  ENSP00000430649.1
  ENSP00000430678.2
  ENSP00000430709.1
  ENSP00000430839.2
  ENSP00000502918.1
  ENSP00000502937.1
  ENSP00000503038.1
  ENSP00000503071.1
  ENSP00000503133.1
  ENSP00000503334.1
  ENSP00000503434.1
  ENSP00000503531.1
  ENSP00000503596.1
  ENSP00000503667.1
  ENSP00000503785.1
  ENSP00000503845.1
  ENSP00000503856.1
  ENSP00000503965.1
  ENSP00000504047.1
  ENSP00000504091.1
  ENSP00000504306.1
  ENSP00000504326.1
  ENSP00000504386.1
  ENSP00000504404.1
  ENSP00000504517.1
  ENSP00000504521.1
  ENSP00000504529.1
  ENSP00000504788.1
  ENSP00000504815.1
  ENSP00000504851.1
GenBank Protein P60228 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001559   ⟸   NM_001568
- UniProtKB: Q6FG33 (UniProtKB/Swiss-Prot),   Q64252 (UniProtKB/Swiss-Prot),   Q64059 (UniProtKB/Swiss-Prot),   Q64058 (UniProtKB/Swiss-Prot),   O43902 (UniProtKB/Swiss-Prot),   Q8WVK4 (UniProtKB/Swiss-Prot),   P60228 (UniProtKB/Swiss-Prot),   Q6IAX5 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000429327   ⟸   ENST00000518100
Ensembl Acc Id: ENSP00000430678   ⟸   ENST00000518345
Ensembl Acc Id: ENSP00000428796   ⟸   ENST00000519030
Ensembl Acc Id: ENSP00000430839   ⟸   ENST00000519627
Ensembl Acc Id: ENSP00000429968   ⟸   ENST00000521297
Ensembl Acc Id: ENSP00000430152   ⟸   ENST00000521440
Ensembl Acc Id: ENSP00000430709   ⟸   ENST00000522445
Ensembl Acc Id: ENSP00000428170   ⟸   ENST00000522352
Ensembl Acc Id: ENSP00000430649   ⟸   ENST00000522887
Ensembl Acc Id: ENSP00000220849   ⟸   ENST00000220849
Ensembl Acc Id: ENSP00000503531   ⟸   ENST00000676892
Ensembl Acc Id: ENSP00000503667   ⟸   ENST00000676706
Ensembl Acc Id: ENSP00000503038   ⟸   ENST00000676642
Ensembl Acc Id: ENSP00000504047   ⟸   ENST00000676663
Ensembl Acc Id: ENSP00000503133   ⟸   ENST00000676698
Ensembl Acc Id: ENSP00000504326   ⟸   ENST00000676548
Ensembl Acc Id: ENSP00000503785   ⟸   ENST00000676487
Ensembl Acc Id: ENSP00000504517   ⟸   ENST00000677084
Ensembl Acc Id: ENSP00000504521   ⟸   ENST00000677040
Ensembl Acc Id: ENSP00000504306   ⟸   ENST00000677447
Ensembl Acc Id: ENSP00000504815   ⟸   ENST00000677409
Ensembl Acc Id: ENSP00000504529   ⟸   ENST00000677272
Ensembl Acc Id: ENSP00000504788   ⟸   ENST00000677614
Ensembl Acc Id: ENSP00000503434   ⟸   ENST00000677674
Ensembl Acc Id: ENSP00000502937   ⟸   ENST00000678023
Ensembl Acc Id: ENSP00000503596   ⟸   ENST00000678042
Ensembl Acc Id: ENSP00000503071   ⟸   ENST00000678004
Ensembl Acc Id: ENSP00000503856   ⟸   ENST00000678334
Ensembl Acc Id: ENSP00000503845   ⟸   ENST00000678243
Ensembl Acc Id: ENSP00000504404   ⟸   ENST00000678881
Ensembl Acc Id: ENSP00000504386   ⟸   ENST00000678773
Ensembl Acc Id: ENSP00000504851   ⟸   ENST00000678797
Ensembl Acc Id: ENSP00000503965   ⟸   ENST00000678937
Ensembl Acc Id: ENSP00000502918   ⟸   ENST00000678901
Ensembl Acc Id: ENSP00000503334   ⟸   ENST00000679198
Protein Domains
Eukaryotic translation initiation factor 3 subunit E   PCI

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P60228-F1-model_v2 AlphaFold P60228 1-445 view protein structure

Promoters
RGD ID:7213985
Promoter ID:EPDNEW_H12738
Type:initiation region
Name:EIF3E_1
Description:eukaryotic translation initiation factor 3 subunit E
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
GRCh388108,248,717 - 108,248,777EPDNEW
RGD ID:6806623
Promoter ID:HG_KWN:61915
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001568,   UC003YMV.1,   UC010MCI.1,   UC010MCJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368109,329,899 - 109,330,399 (-)MPROMDB
RGD ID:6851562
Promoter ID:EP73582
Type:multiple initiation site
Name:HS_EIF3S6
Description:Eukaryotic translation initiation factor 3, subunit 6 48kDa.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 368109,330,122 - 109,330,182EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3277 AgrOrtholog
COSMIC EIF3E COSMIC
Ensembl Genes ENSG00000104408 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000220849 ENTREZGENE
  ENST00000220849.10 UniProtKB/Swiss-Prot
  ENST00000518100.6 UniProtKB/TrEMBL
  ENST00000518345.2 UniProtKB/TrEMBL
  ENST00000518442.5 UniProtKB/TrEMBL
  ENST00000519030.6 UniProtKB/TrEMBL
  ENST00000519627.2 UniProtKB/TrEMBL
  ENST00000521297.2 UniProtKB/TrEMBL
  ENST00000521440.6 UniProtKB/TrEMBL
  ENST00000522352.6 UniProtKB/TrEMBL
  ENST00000522445.6 UniProtKB/TrEMBL
  ENST00000522887.1 UniProtKB/TrEMBL
  ENST00000676487.1 UniProtKB/TrEMBL
  ENST00000676548.1 UniProtKB/TrEMBL
  ENST00000676642.1 UniProtKB/TrEMBL
  ENST00000676663.1 UniProtKB/TrEMBL
  ENST00000676698.1 UniProtKB/TrEMBL
  ENST00000676706.1 UniProtKB/TrEMBL
  ENST00000676892.1 UniProtKB/TrEMBL
  ENST00000677040.1 UniProtKB/TrEMBL
  ENST00000677084.1 UniProtKB/TrEMBL
  ENST00000677272.1 UniProtKB/TrEMBL
  ENST00000677409.1 UniProtKB/TrEMBL
  ENST00000677447.1 UniProtKB/TrEMBL
  ENST00000677614.1 UniProtKB/TrEMBL
  ENST00000677674.1 UniProtKB/TrEMBL
  ENST00000678004.1 UniProtKB/TrEMBL
  ENST00000678023.1 UniProtKB/TrEMBL
  ENST00000678042.1 UniProtKB/TrEMBL
  ENST00000678243.1 UniProtKB/TrEMBL
  ENST00000678334.1 UniProtKB/TrEMBL
  ENST00000678773.1 UniProtKB/TrEMBL
  ENST00000678797.1 UniProtKB/TrEMBL
  ENST00000678881.1 UniProtKB/TrEMBL
  ENST00000678901.1 UniProtKB/TrEMBL
  ENST00000678937.1 UniProtKB/TrEMBL
  ENST00000679198.1 UniProtKB/TrEMBL
GTEx ENSG00000104408 GTEx
HGNC ID HGNC:3277 ENTREZGENE
Human Proteome Map EIF3E Human Proteome Map
InterPro eIF3e UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  eIF3e_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PCI_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3646 UniProtKB/Swiss-Prot
NCBI Gene 3646 ENTREZGENE
OMIM 602210 OMIM
PANTHER EUKARYOTIC TRANSLATION INITIATION FACTOR 3 SUBUNIT E UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10317 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam eIF3_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EIF3E_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PCI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27705 PharmGKB
PIRSF eIF3e_su6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PCI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART eIF3_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PINT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A161SXE1_HUMAN UniProtKB/TrEMBL
  A0A7I2V2H9_HUMAN UniProtKB/TrEMBL
  A0A7I2V2Q9_HUMAN UniProtKB/TrEMBL
  A0A7I2V2S9_HUMAN UniProtKB/TrEMBL
  A0A7I2V2W0_HUMAN UniProtKB/TrEMBL
  A0A7I2V3I0_HUMAN UniProtKB/TrEMBL
  A0A7I2V3I2_HUMAN UniProtKB/TrEMBL
  A0A7I2V3S3_HUMAN UniProtKB/TrEMBL
  A0A7I2V3W9_HUMAN UniProtKB/TrEMBL
  A0A7I2V429_HUMAN UniProtKB/TrEMBL
  A0A7I2V4B4_HUMAN UniProtKB/TrEMBL
  A0A7I2V4G3_HUMAN UniProtKB/TrEMBL
  A0A7I2V570_HUMAN UniProtKB/TrEMBL
  A0A7I2V5K7_HUMAN UniProtKB/TrEMBL
  A0A7I2V5P9_HUMAN UniProtKB/TrEMBL
  A0A7I2V5Z6_HUMAN UniProtKB/TrEMBL
  B2R806_HUMAN UniProtKB/TrEMBL
  B3KW56_HUMAN UniProtKB/TrEMBL
  E5RGA2_HUMAN UniProtKB/TrEMBL
  E5RHS5_HUMAN UniProtKB/TrEMBL
  E5RII3_HUMAN UniProtKB/TrEMBL
  E5RIP5_HUMAN UniProtKB/TrEMBL
  E5RJ25_HUMAN UniProtKB/TrEMBL
  EIF3E_HUMAN UniProtKB/Swiss-Prot
  H0YAW4_HUMAN UniProtKB/TrEMBL
  H0YBP5_HUMAN UniProtKB/TrEMBL
  H0YBR5_HUMAN UniProtKB/TrEMBL
  O43902 ENTREZGENE
  P60228 ENTREZGENE
  Q64058 ENTREZGENE
  Q64059 ENTREZGENE
  Q64252 ENTREZGENE
  Q6FG33 ENTREZGENE
  Q6IAX5 ENTREZGENE, UniProtKB/TrEMBL
  Q8WVK4 ENTREZGENE
UniProt Secondary E5RIT4 UniProtKB/TrEMBL
  O43902 UniProtKB/Swiss-Prot
  Q64058 UniProtKB/Swiss-Prot
  Q64059 UniProtKB/Swiss-Prot
  Q64252 UniProtKB/Swiss-Prot
  Q6FG33 UniProtKB/Swiss-Prot
  Q8WVK4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 EIF3E  eukaryotic translation initiation factor 3 subunit E    eukaryotic translation initiation factor 3, subunit E  Symbol and/or name change 5135510 APPROVED