AutismKB 2.0

Annotation Detail for EIF2AK1


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Basic Information Top
Gene Symbol:EIF2AK1 ( HCR,HRI,KIAA1369 )
Gene Full Name: eukaryotic translation initiation factor 2-alpha kinase 1
Band: 7p22.1
Quick LinksEntrez ID:27102; OMIM: NA; Uniprot ID:E2AK1_HUMAN; ENSEMBL ID: ENSG00000086232; HGNC ID: 24921
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217735_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.65
Adipocyte5.5
AdrenalCortex5.55
Adrenalgland4.65
Amygdala5.85
Appendix5.45
AtrioventricularNode4.05
BDCA4+_DentriticCells6.15
Bonemarrow5.45
BronchialEpithelialCells5.3
CD105+_Endothelial5.55
CD14+_Monocytes5.9
CD19+_BCells(neg._sel.)5.7
CD33+_Myeloid6.85
CD34+6.95
CD4+_Tcells5.75
CD56+_NKCells6.4
CD71+_EarlyErythroid123.7
CD8+_Tcells5.15
CardiacMyocytes6.85
Caudatenucleus4.95
Cerebellum4.5
CerebellumPeduncles6.25
CiliaryGanglion4.1
CingulateCortex5.6
Colorectaladenocarcinoma5.5
DorsalRootGanglion4.4
FetalThyroid5.25
Fetalbrain8.95
Fetalliver4.95
Fetallung4.55
GlobusPallidus3.95
Heart6.9
Hypothalamus6.2
Kidney4.45
Leukemia_chronicMyelogenousK-5625.05
Leukemia_promyelocytic-HL-604.8
Leukemialymphoblastic(MOLT-4)4.35
Liver7.2
Lung6
Lymphnode4.7
Lymphoma_burkitts(Daudi)7.05
Lymphoma_burkitts(Raji)7.5
MedullaOblongata5.05
OccipitalLobe5.15
OlfactoryBulb4.3
Ovary3.6
Pancreas4.35
PancreaticIslet5.85
ParietalLobe5.85
Pituitary6.45
Placenta5.75
Pons5.25
PrefrontalCortex7
Prostate6.45
Salivarygland4.35
SkeletalMuscle6.25
Skin4.15
SmoothMuscle6.2
Spinalcord6.65
SubthalamicNucleus5.1
SuperiorCervicalGanglion6.1
TemporalLobe5.05
Testis4.7
TestisGermCell4.55
TestisIntersitial4.55
TestisLeydigCell5.4
TestisSeminiferousTubule4.65
Thalamus5.65
Thymus4.3
Thyroid6.85
Tongue5.2
Tonsil5.3
Trachea4.55
TrigeminalGanglion5.35
Uterus4.45
UterusCorpus4.9
WholeBlood6.45
Wholebrain6
colon5.5
pineal_day6.86
pineal_night6.78
retina6.6
small_intestine5.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P251173
  • 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
Amygdala8.98 ± 0.32
Basal Forebrain9.04 ± 0.12
Basal Part of Pons9.14 ± 0.21
Cerebellar Cortex8.69 ± 0.15
Cerebellar Nuclei9.27 ± 0.19
Claustrum9.37 ± 0.39
Epithalamus8.78 ± 0.15
Frontal Lobe8.93 ± 0.3
Globus Pallidus9.14 ± 0.19
Hypothalamus8.86 ± 0.28
Insula8.86 ± 0.21
Limbic Lobe8.9 ± 0.27
Mesencephalon9.08 ± 0.22
Myelencephalon8.97 ± 0.24
Occipital Lobe9.12 ± 0.25
Parietal Lobe9.02 ± 0.22
Pontine Tegmentum8.88 ± 0.27
Striatum9.02 ± 0.31
Subthalamus9.06 ± 0.24
Temporal Lobe8.87 ± 0.21
Thalamus9.08 ± 0.19
White Matter9.04 ± 0.2
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Eif2ak1CBCerebellum27.91
41.98
Eif2ak1CTXCerebral cortex68.85
59.54
Eif2ak1HIPHippocampal region44.04
73.17
Eif2ak1HPFHippocampal formation50.64
65.15
Eif2ak1HYHypothalamus25.34
22.9
Eif2ak1LSXLateral septal complex18.18
14.46
Eif2ak1MBMidbrain34.96
37.14
Eif2ak1MYMedulla47.55
61.97
Eif2ak1OLFOlfactory bulb40.67
35.57
Eif2ak1PPons34.85
45.26
Eif2ak1PALPallidum27.98
29.08
Eif2ak1RHPRetrohippocampal region62.28
57.24
Eif2ak1sAMYStriatum-like amygdalar nuclei30.15
23.86
Eif2ak1STRStriatum24.35
18.59
Eif2ak1STRdStriatum dorsal region25.41
19.64
Eif2ak1STRvStriatum ventral region22.13
15.64
Eif2ak1THThalamus36.67
34.92
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
E2AK1_HUMAN_1 9 1 9 MQGGNSGVR 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