AutismKB 2.0

Annotation Detail for EIF2B5


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Basic Information Top
Gene Symbol:EIF2B5 ( CACH,CLE,EIF-2B,EIF2Bepsilon,LVWM )
Gene Full Name: eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
Band: 3q27.1
Quick LinksEntrez ID:8893; OMIM: 603945; Uniprot ID:EI2BE_HUMAN; ENSEMBL ID: ENSG00000145191; HGNC ID: 3261
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 body4 / 7076156
blastocyst3 / 6231948
fetus39 / 56401269
neonate0 / 310970 
infant3 / 23620127
juvenile3 / 5555653
adult138 / 193912171
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor7 / 9417874
cervical tumor2 / 3436658
chondrosarcoma7 / 8282384
colorectal tumor10 / 11424687
esophageal tumor3 / 17290173
gastrointestinal tumor13 / 119369108
germ cell tumor26 / 26384598
glioma8 / 10688374
head and neck tumor20 / 136302146
kidney tumor9 / 68959130
leukemia5 / 9584252
liver tumor3 / 9635931
lung tumor20 / 103127193
lymphoma11 / 71755153
non-neoplasia2 / 9725020
normal211 / 336030762
ovarian tumor4 / 7668252
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS33 / 125680262
prostate cancer14 / 102680136
retinoblastoma1 / 4635621
skin tumor35 / 124949280
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor12 / 90257132
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites8 / 40015199
bladder2 / 2975767
blood7 / 12347856
bone4 / 7165555
bone marrow0 / 488010 
brain109 / 110098999
cervix8 / 48171166
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue13 / 21572260
esophagus3 / 20209148
eye13 / 21105461
heart8 / 8962689
intestine17 / 23447272
kidney15 / 21177770
larynx1 / 2414541
liver5 / 20774324
lung30 / 33697489
lymph6 / 44270135
lymph node6 / 9161065
mammary gland11 / 15327171
mouth17 / 67052253
muscle6 / 10771555
nerve1 / 1576863
ovary6 / 10205158
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland1 / 1658560
placenta26 / 28082592
prostate22 / 189345116
salivary gland2 / 2015599
skin41 / 210574194
spleen8 / 53952148
stomach6 / 9661962
testis15 / 33044245
thymus10 / 81131123
thyroid0 / 474730 
tonsil3 / 16999176
trachea9 / 52413171
umbilical cord0 / 136800 
uterus25 / 232878107
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212351_at
Cell line Expression level Expression bar
721_B_lymphoblasts71.1
Adipocyte18.85
AdrenalCortex20.75
Adrenalgland17.6
Amygdala18.5
Appendix19.05
AtrioventricularNode15.25
BDCA4+_DentriticCells53.75
Bonemarrow26.85
BronchialEpithelialCells20.35
CD105+_Endothelial76.55
CD14+_Monocytes27.85
CD19+_BCells(neg._sel.)61.25
CD33+_Myeloid43.4
CD34+132.85
CD4+_Tcells169.85
CD56+_NKCells102.6
CD71+_EarlyErythroid20.4
CD8+_Tcells93.55
CardiacMyocytes21.85
Caudatenucleus20.2
Cerebellum17
CerebellumPeduncles25.15
CiliaryGanglion18.75
CingulateCortex21.3
Colorectaladenocarcinoma27.8
DorsalRootGanglion15.05
FetalThyroid26.75
Fetalbrain29.45
Fetalliver22.45
Fetallung21.45
GlobusPallidus17
Heart33.35
Hypothalamus39.8
Kidney15.95
Leukemia_chronicMyelogenousK-56220.45
Leukemia_promyelocytic-HL-6037.4
Leukemialymphoblastic(MOLT-4)41.65
Liver27.45
Lung30.85
Lymphnode33
Lymphoma_burkitts(Daudi)70.4
Lymphoma_burkitts(Raji)42.4
MedullaOblongata19.8
OccipitalLobe16.85
OlfactoryBulb15.9
Ovary13.4
Pancreas49.75
PancreaticIslet30.45
ParietalLobe20.4
Pituitary40.2
Placenta23.75
Pons18.6
PrefrontalCortex35.4
Prostate33.1
Salivarygland18.65
SkeletalMuscle22.75
Skin15.3
SmoothMuscle22.85
Spinalcord23.8
SubthalamicNucleus21.85
SuperiorCervicalGanglion22.4
TemporalLobe18.3
Testis17.9
TestisGermCell16.6
TestisIntersitial16.75
TestisLeydigCell18.65
TestisSeminiferousTubule17.3
Thalamus20.45
Thymus43.4
Thyroid25.75
Tongue22.25
Tonsil21.2
Trachea16.95
TrigeminalGanglion19.4
Uterus18.2
UterusCorpus17.9
WholeBlood18.7
Wholebrain26.8
colon13.05
pineal_day25.76
pineal_night24.96
retina21.325
small_intestine13.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9296_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
Amygdala4.63 ± 1.06
Basal Forebrain4.11 ± 0.56
Basal Part of Pons5.06 ± 0.75
Cerebellar Cortex5.08 ± 0.44
Cerebellar Nuclei4.5 ± 0.57
Claustrum3.94 ± 0.93
Epithalamus4.64 ± 0.7
Frontal Lobe4.86 ± 0.53
Globus Pallidus3.9 ± 0.37
Hypothalamus4.67 ± 0.79
Insula4.85 ± 0.52
Limbic Lobe4.31 ± 0.71
Mesencephalon4.59 ± 0.74
Myelencephalon4.51 ± 0.67
Occipital Lobe3.91 ± 0.81
Parietal Lobe4.67 ± 0.65
Pontine Tegmentum4.52 ± 0.6
Striatum3.85 ± 0.65
Subthalamus4.75 ± 0.4
Temporal Lobe4.77 ± 0.59
Thalamus4.54 ± 0.61
White Matter4.38 ± 0.6
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
EI2BE_HUMAN_2 14 2 15 AAPVVAPPGVVVSR PRIDE
PAp00008079 19 402 420 VAAGAQIHQSLLCDNAEVK 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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