AutismKB 2.0

Annotation Detail for EEF1A2


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Basic Information Top
Gene Symbol:EEF1A2 ( EEF1AL,EF-1-alpha-2,EF1A,FLJ41696,HS1,STN,STNL )
Gene Full Name: eukaryotic translation elongation factor 1 alpha 2
Band: 20q13.33
Quick LinksEntrez ID:1917; OMIM: 602959; Uniprot ID:EF1A2_HUMAN; ENSEMBL ID: ENSG00000101210; HGNC ID: 3192
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 body2 / 7076128
blastocyst3 / 6231948
fetus107 / 564012189
neonate0 / 310970 
infant6 / 23620254
juvenile1 / 5555617
adult178 / 193912191
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor82 / 94178870
cervical tumor2 / 3436658
chondrosarcoma0 / 828230 
colorectal tumor20 / 114246175
esophageal tumor0 / 172900 
gastrointestinal tumor14 / 119369117
germ cell tumor3 / 26384511
glioma5 / 10688346
head and neck tumor4 / 13630229
kidney tumor3 / 6895943
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor35 / 103127339
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal229 / 336030768
ovarian tumor0 / 766820 
pancreatic tumor74 / 104616707
primitive neuroectodermal tumor of the CNS38 / 125680302
prostate cancer34 / 102680331
retinoblastoma23 / 46356496
skin tumor2 / 12494916
soft tissue/muscle tissue tumor3 / 12519123
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
bladder0 / 297570 
blood1 / 1234788
bone0 / 716550 
bone marrow0 / 488010 
brain175 / 1100989158
cervix2 / 4817141
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye70 / 211054331
heart1 / 8962611
intestine27 / 234472115
kidney4 / 21177718
larynx0 / 241450 
liver2 / 2077439
lung39 / 336974115
lymph0 / 442700 
lymph node0 / 916100 
mammary gland82 / 153271535
mouth1 / 6705214
muscle9 / 10771583
nerve6 / 15768380
ovary0 / 1020510 
pancreas79 / 214812367
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland4 / 16585241
placenta0 / 2808250 
prostate35 / 189345184
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach5 / 9661951
testis3 / 3304429
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204540_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.15
Adipocyte8.5
AdrenalCortex25.2
Adrenalgland31.05
Amygdala1646.55
Appendix9
AtrioventricularNode6.95
BDCA4+_DentriticCells8.25
Bonemarrow8.85
BronchialEpithelialCells8.3
CD105+_Endothelial7.75
CD14+_Monocytes9.3
CD19+_BCells(neg._sel.)8.8
CD33+_Myeloid9.75
CD34+10.3
CD4+_Tcells10.7
CD56+_NKCells9.45
CD71+_EarlyErythroid7.4
CD8+_Tcells7.75
CardiacMyocytes12.9
Caudatenucleus367.55
Cerebellum483.25
CerebellumPeduncles875.4
CiliaryGanglion23.25
CingulateCortex731.7
Colorectaladenocarcinoma576.4
DorsalRootGanglion33.55
FetalThyroid20.85
Fetalbrain868.75
Fetalliver7.8
Fetallung6.8
GlobusPallidus316.7
Heart2441.85
Hypothalamus207.2
Kidney7.35
Leukemia_chronicMyelogenousK-56224.2
Leukemia_promyelocytic-HL-607.8
Leukemialymphoblastic(MOLT-4)6.5
Liver10.75
Lung8.65
Lymphnode6.9
Lymphoma_burkitts(Daudi)11.05
Lymphoma_burkitts(Raji)12.65
MedullaOblongata738.9
OccipitalLobe522.65
OlfactoryBulb6.5
Ovary5.85
Pancreas7.9
PancreaticIslet90.55
ParietalLobe666.9
Pituitary132.8
Placenta8.75
Pons206.5
PrefrontalCortex2851.6
Prostate39.65
Salivarygland7.5
SkeletalMuscle1743.1
Skin6.95
SmoothMuscle9.35
Spinalcord80.95
SubthalamicNucleus632.2
SuperiorCervicalGanglion10.75
TemporalLobe638.3
Testis7.85
TestisGermCell6.75
TestisIntersitial7.95
TestisLeydigCell8.45
TestisSeminiferousTubule6.9
Thalamus541.15
Thymus6.1
Thyroid133.9
Tongue425.8
Tonsil7.95
Trachea7.05
TrigeminalGanglion15.65
Uterus6.65
UterusCorpus7.9
WholeBlood8.6
Wholebrain1270.4
colon8.9
pineal_day1647.88
pineal_night1618.74
retina53.05
small_intestine8.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P256033
  • 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
Amygdala10.1 ± 0.43
Basal Forebrain9.52 ± 0.27
Basal Part of Pons10.7 ± 0.3
Cerebellar Cortex10.35 ± 0.29
Cerebellar Nuclei9.73 ± 0.48
Claustrum9.75 ± 0.46
Epithalamus8.52 ± 1.08
Frontal Lobe10.12 ± 0.53
Globus Pallidus8.49 ± 0.44
Hypothalamus9.97 ± 0.29
Insula10.07 ± 0.39
Limbic Lobe10.07 ± 0.51
Mesencephalon9.63 ± 0.59
Myelencephalon9.81 ± 0.75
Occipital Lobe9.56 ± 0.51
Parietal Lobe9.97 ± 0.5
Pontine Tegmentum9.78 ± 0.44
Striatum9.17 ± 0.52
Subthalamus10 ± 0.2
Temporal Lobe10.14 ± 0.4
Thalamus9.77 ± 0.28
White Matter7.39 ± 0.33
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
EF1A2_HUMAN_0 0 0 0 EHALLAYTLGVK PRIDE
EF1A2_HUMAN_0 0 0 0 IGGIGTVPVGR PRIDE
EF1A2_HUMAN_0 0 0 0 LPLQDVYK PRIDE
EF1A2_HUMAN_0 0 0 0 STTTGHLIYK PRIDE
EF1A2_HUMAN_0 0 0 0 THINIVVIGHVDSGK PRIDE
EF1A2_HUMAN_100 29 100 128 NMITGTSQADCAVLIVAAGVGEFEAGISK PRIDE
EF1A2_HUMAN_134 12 134 145 EHALLAYTLGVK PRIDE
EF1A2_HUMAN_135 12 135 146 EHALLAYTLGVK PRIDE
EF1A2_HUMAN_218 37 218 254 KEGNASGVSLLEALDTILPPTRPTDKPLRLPLQDVYK PRIDE
EF1A2_HUMAN_247 8 247 254 LPLQDVYK PRIDE
EF1A2_HUMAN_255 11 255 265 IGGIGTVPVGR PRIDE
EF1A2_HUMAN_266 24 266 289 VETGILRPGMVVTFAPVNITTEVK PRIDE
EF1A2_HUMAN_267 24 267 290 VETGILRPGMVVTFAPVNITTEVK PRIDE
EF1A2_HUMAN_37 14 37 50 TIEKFEKEAAEMGK PRIDE
EF1A2_HUMAN_5 15 5 19 THINIVVIGHVDSGK PRIDE
PAp00002047 12 135 146 EHALLAYTLGVK 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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