AutismKB 2.0

Annotation Detail for EIF2AK3


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Basic Information Top
Gene Symbol:EIF2AK3 ( DKFZp781H1925,PEK,PERK,WRS )
Gene Full Name: eukaryotic translation initiation factor 2-alpha kinase 3
Band: 2p11.2
Quick LinksEntrez ID:9451; OMIM: 604032; Uniprot ID:E2AK3_HUMAN; ENSEMBL ID: ENSG00000172071; HGNC ID: 3255
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 body3 / 7076142
blastocyst1 / 6231916
fetus24 / 56401242
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult41 / 193912121
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma5 / 8282360
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor3 / 26384511
glioma2 / 10688318
head and neck tumor5 / 13630236
kidney tumor0 / 689590 
leukemia3 / 9584231
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma3 / 7175541
non-neoplasia3 / 9725030
normal107 / 336030731
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites2 / 4001549
bladder3 / 29757100
blood6 / 12347848
bone2 / 7165527
bone marrow2 / 4880140
brain11 / 11009899
cervix0 / 481710 
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye5 / 21105423
heart2 / 8962622
intestine6 / 23447225
kidney3 / 21177714
larynx0 / 241450 
liver6 / 20774328
lung9 / 33697426
lymph1 / 4427022
lymph node20 / 91610218
mammary gland3 / 15327119
mouth3 / 6705244
muscle6 / 10771555
nerve0 / 157680 
ovary0 / 1020510 
pancreas9 / 21481241
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta2 / 2808257
prostate1 / 1893455
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach1 / 9661910
testis3 / 3304429
thymus1 / 8113112
thyroid3 / 4747363
tonsil0 / 169990 
trachea6 / 52413114
umbilical cord1 / 1368073
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218696_at
Cell line Expression level Expression bar
721_B_lymphoblasts75.75
Adipocyte17.95
AdrenalCortex33.4
Adrenalgland24.45
Amygdala58.95
Appendix19.9
AtrioventricularNode14.7
BDCA4+_DentriticCells158.35
Bonemarrow20.1
BronchialEpithelialCells19.2
CD105+_Endothelial18.65
CD14+_Monocytes19.4
CD19+_BCells(neg._sel.)344.25
CD33+_Myeloid24.75
CD34+39.6
CD4+_Tcells19.75
CD56+_NKCells47.45
CD71+_EarlyErythroid16.75
CD8+_Tcells76.45
CardiacMyocytes22.75
Caudatenucleus21.9
Cerebellum15.15
CerebellumPeduncles28.7
CiliaryGanglion14.85
CingulateCortex20
Colorectaladenocarcinoma21
DorsalRootGanglion16.45
FetalThyroid31.95
Fetalbrain23.65
Fetalliver19.8
Fetallung27.2
GlobusPallidus11.9
Heart26.55
Hypothalamus24.25
Kidney14.8
Leukemia_chronicMyelogenousK-56225.65
Leukemia_promyelocytic-HL-6054.9
Leukemialymphoblastic(MOLT-4)14.4
Liver26.65
Lung20.25
Lymphnode46.7
Lymphoma_burkitts(Daudi)155.8
Lymphoma_burkitts(Raji)37.95
MedullaOblongata14.8
OccipitalLobe20.2
OlfactoryBulb18.55
Ovary13.6
Pancreas47.55
PancreaticIslet71.55
ParietalLobe20.95
Pituitary39.3
Placenta49.85
Pons18.6
PrefrontalCortex23.65
Prostate93.15
Salivarygland46.15
SkeletalMuscle25.15
Skin14.4
SmoothMuscle26.3
Spinalcord19.95
SubthalamicNucleus16.75
SuperiorCervicalGanglion23.4
TemporalLobe17.25
Testis14.25
TestisGermCell13.75
TestisIntersitial15.5
TestisLeydigCell19.25
TestisSeminiferousTubule15.85
Thalamus17.2
Thymus13.5
Thyroid150.5
Tongue17.55
Tonsil27.75
Trachea55.9
TrigeminalGanglion21.25
Uterus33
UterusCorpus19.55
WholeBlood24.35
Wholebrain15.1
colon66.1
pineal_day20.42
pineal_night20.06
retina28.65
small_intestine43.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16379_PI416261804
  • 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
Amygdala3.92 ± 0.71
Basal Forebrain3.16 ± 0.62
Basal Part of Pons3.3 ± 0.4
Cerebellar Cortex3.51 ± 0.67
Cerebellar Nuclei3.99 ± 0.5
Claustrum3.76 ± 0.82
Epithalamus3.42 ± 0.55
Frontal Lobe3.32 ± 0.64
Globus Pallidus3.83 ± 0.76
Hypothalamus3.74 ± 0.62
Insula3.71 ± 0.57
Limbic Lobe3.47 ± 0.67
Mesencephalon3.7 ± 0.66
Myelencephalon3.47 ± 0.58
Occipital Lobe3.96 ± 0.57
Parietal Lobe3.51 ± 0.68
Pontine Tegmentum3.7 ± 0.73
Striatum3.43 ± 0.76
Subthalamus3.61 ± 0.53
Temporal Lobe3.53 ± 0.58
Thalamus3.64 ± 0.6
White Matter4.64 ± 0.61
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Eif2ak3CBCerebellum99.16
78.59
Eif2ak3CTXCerebral cortex100
85.29
Eif2ak3HIPHippocampal region98.69
78.33
Eif2ak3HPFHippocampal formation100
84.32
Eif2ak3HYHypothalamus74.2
42.93
Eif2ak3LSXLateral septal complex84.77
38.14
Eif2ak3MBMidbrain87.58
60.42
Eif2ak3MYMedulla85.09
77.86
Eif2ak3OLFOlfactory bulb100
84.01
Eif2ak3PPons85.1
70.77
Eif2ak3PALPallidum76.37
54.07
Eif2ak3RHPRetrohippocampal region100
90.62
Eif2ak3sAMYStriatum-like amygdalar nuclei68.24
59.41
Eif2ak3STRStriatum76.55
53.86
Eif2ak3STRdStriatum dorsal region73.88
55.6
Eif2ak3STRvStriatum ventral region88.27
50.68
Eif2ak3THThalamus99.35
75
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
E2AK3_HUMAN_489 10 489 498 NKRSTQITVR PRIDE

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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