AutismKB 2.0

Annotation Detail for EEF1E1


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Basic Information Top
Gene Symbol:EEF1E1 ( AIMP3,P18 )
Gene Full Name: eukaryotic translation elongation factor 1 epsilon 1
Band: 6p24.3
Quick LinksEntrez ID:9521; OMIM: 609206; Uniprot ID:MCA3_HUMAN; ENSEMBL ID: ENSG00000124802; HGNC ID: 3212
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body1 / 7076114
blastocyst1 / 6231916
fetus12 / 56401221
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult106 / 193912154
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma4 / 17475228
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor1 / 2638453
glioma2 / 10688318
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia6 / 9584262
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia3 / 9725030
normal79 / 336030723
ovarian tumor2 / 7668226
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor6 / 12494948
soft tissue/muscle tissue tumor59 / 125191471
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites1 / 4001524
bladder4 / 29757134
blood1 / 1234788
bone3 / 7165541
bone marrow6 / 48801122
brain24 / 110098921
cervix1 / 4817120
connective tissue56 / 149255375
ear1 / 1621261
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye2 / 2110549
heart0 / 896260 
intestine5 / 23447221
kidney12 / 21177756
larynx0 / 241450 
liver3 / 20774314
lung11 / 33697432
lymph0 / 442700 
lymph node8 / 9161087
mammary gland12 / 15327178
mouth2 / 6705229
muscle3 / 10771527
nerve0 / 157680 
ovary3 / 10205129
pancreas8 / 21481237
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta3 / 28082510
prostate5 / 18934526
salivary gland3 / 20155148
skin8 / 21057437
spleen0 / 539520 
stomach4 / 9661941
testis4 / 33044212
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus7 / 23287830
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204905_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts392.1
Adipocyte18.5
AdrenalCortex15.4
Adrenalgland19.9
Amygdala45.65
Appendix12.9
AtrioventricularNode16.6
BDCA4+_DentriticCells73.1
Bonemarrow29.75
BronchialEpithelialCells106.75
CD105+_Endothelial314.45
CD14+_Monocytes34.95
CD19+_BCells(neg._sel.)155.95
CD33+_Myeloid41.2
CD34+337.15
CD4+_Tcells62.55
CD56+_NKCells69.95
CD71+_EarlyErythroid47.45
CD8+_Tcells73.55
CardiacMyocytes54.05
Caudatenucleus19.15
Cerebellum20.55
CerebellumPeduncles30.95
CiliaryGanglion9.2
CingulateCortex28.05
Colorectaladenocarcinoma36.45
DorsalRootGanglion16.85
FetalThyroid22.05
Fetalbrain24.85
Fetalliver21.5
Fetallung18.25
GlobusPallidus17.8
Heart23.6
Hypothalamus82.7
Kidney18.25
Leukemia_chronicMyelogenousK-562358.3
Leukemia_promyelocytic-HL-60319.7
Leukemialymphoblastic(MOLT-4)96.9
Liver16.8
Lung9.15
Lymphnode14.65
Lymphoma_burkitts(Daudi)298
Lymphoma_burkitts(Raji)22.15
MedullaOblongata23.9
OccipitalLobe44.45
OlfactoryBulb11.15
Ovary16.25
Pancreas19.75
PancreaticIslet30.35
ParietalLobe14.75
Pituitary46.9
Placenta10.15
Pons25.9
PrefrontalCortex27.9
Prostate16.8
Salivarygland20.5
SkeletalMuscle17.6
Skin9.75
SmoothMuscle54.3
Spinalcord26
SubthalamicNucleus17.45
SuperiorCervicalGanglion17.65
TemporalLobe28.45
Testis24.85
TestisGermCell62.8
TestisIntersitial81.9
TestisLeydigCell76.8
TestisSeminiferousTubule53.7
Thalamus40
Thymus18.6
Thyroid17.75
Tongue18.9
Tonsil23.6
Trachea22.8
TrigeminalGanglion19
Uterus17.35
UterusCorpus9.2
WholeBlood33.25
Wholebrain50.75
colon35.6
pineal_day128.68
pineal_night188.44
retina28.45
small_intestine26.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P156842
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala7.8 ± 0.37
Basal Forebrain7.74 ± 0.33
Basal Part of Pons8.2 ± 0.11
Cerebellar Cortex8.17 ± 0.15
Cerebellar Nuclei8.45 ± 0.37
Claustrum7.82 ± 0.43
Epithalamus7.84 ± 0.34
Frontal Lobe8.16 ± 0.38
Globus Pallidus7.66 ± 0.3
Hypothalamus8.54 ± 0.25
Insula8.08 ± 0.26
Limbic Lobe7.8 ± 0.41
Mesencephalon8.07 ± 0.36
Myelencephalon7.91 ± 0.41
Occipital Lobe7.74 ± 0.35
Parietal Lobe7.96 ± 0.38
Pontine Tegmentum8.03 ± 0.38
Striatum7.55 ± 0.3
Subthalamus8.26 ± 0.3
Temporal Lobe8 ± 0.31
Thalamus7.96 ± 0.28
White Matter8.03 ± 0.31
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Eef1e1CBCerebellum14.81
16.66
Eef1e1CTXCerebral cortex36.85
27.92
Eef1e1HIPHippocampal region22.56
24.41
Eef1e1HPFHippocampal formation28.7
27.67
Eef1e1HYHypothalamus16.54
14.13
Eef1e1LSXLateral septal complex9.92
6.7
Eef1e1MBMidbrain23.85
22.92
Eef1e1MYMedulla27.19
32.38
Eef1e1OLFOlfactory bulb39.31
31.35
Eef1e1PPons21.09
25.22
Eef1e1PALPallidum27.71
28.87
Eef1e1RHPRetrohippocampal region40.54
33.54
Eef1e1sAMYStriatum-like amygdalar nuclei30.51
24.31
Eef1e1STRStriatum12.07
9.65
Eef1e1STRdStriatum dorsal region9.8
8.17
Eef1e1STRvStriatum ventral region13.91
10.3
Eef1e1THThalamus20.47
16.65
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
MCA3_HUMAN_0 0 0 0 QIPVLQTNNGPSLTGLTTIAAHLVK PRIDE
MCA3_HUMAN_156 10 156 165 QHLSSVVFIK PRIDE
MCA3_HUMAN_2 15 2 16 AAAAELSLLEKSLGL PRIDE
MCA3_HUMAN_2 19 2 20 AAAAELSLLEKSLGLSKGN PRIDE
MCA3_HUMAN_2 27 2 28 AAAAELSLLEKSLGLSKGNKYSAQGER PRIDE
MCA3_HUMAN_28 25 28 52 QIPVLQTNNGPSLTGLTTIAAHLVK PRIDE
MCA3_HUMAN_53 15 53 67 QANKEYLLGSTAEEK PRIDE
MCA3_HUMAN_68 10 68 77 AIVQQWLEYR PRIDE
PAp00008730 12 145 156 WFCHIQHYPGIR Peptide Atlas

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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