AutismKB 2.0

Annotation Detail for EEF2


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Basic Information Top
Gene Symbol:EEF2 ( EEF-2,EF2 )
Gene Full Name: eukaryotic translation elongation factor 2
Band: 19p13.3
Quick LinksEntrez ID:1938; OMIM: 130610; Uniprot ID:EF2_HUMAN; ENSEMBL ID: ENSG00000167658; HGNC ID: 3214
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 body43 / 70761607
blastocyst22 / 62319353
fetus84 / 564012148
neonate1 / 3109732
infant3 / 23620127
juvenile10 / 55556179
adult1102 / 1939121568
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma4 / 17475228
breast (mammary gland) tumor110 / 941781168
cervical tumor21 / 34366611
chondrosarcoma4 / 8282348
colorectal tumor167 / 1142461461
esophageal tumor18 / 172901041
gastrointestinal tumor39 / 119369326
germ cell tumor47 / 263845178
glioma59 / 106883552
head and neck tumor131 / 136302961
kidney tumor20 / 68959290
leukemia44 / 95842459
liver tumor8 / 9635983
lung tumor60 / 103127581
lymphoma25 / 71755348
non-neoplasia12 / 97250123
normal559 / 3360307166
ovarian tumor12 / 76682156
pancreatic tumor12 / 104616114
primitive neuroectodermal tumor of the CNS31 / 125680246
prostate cancer307 / 1026802989
retinoblastoma8 / 46356172
skin tumor36 / 124949288
soft tissue/muscle tissue tumor34 / 125191271
uterine tumor12 / 90257132
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue7 / 13106534
adrenal gland3 / 3319790
ascites7 / 40015174
bladder8 / 29757268
blood30 / 123478242
bone10 / 71655139
bone marrow30 / 48801614
brain205 / 1100989186
cervix24 / 48171498
connective tissue4 / 14925526
ear5 / 16212308
embryonic tissue98 / 215722454
esophagus18 / 20209890
eye45 / 211054213
heart8 / 8962689
intestine195 / 234472831
kidney42 / 211777198
larynx16 / 24145662
liver14 / 20774367
lung111 / 336974329
lymph22 / 44270496
lymph node15 / 91610163
mammary gland137 / 153271893
mouth72 / 670521073
muscle31 / 107715287
nerve0 / 157680 
ovary14 / 102051137
pancreas17 / 21481279
parathyroid1 / 2053948
pharynx8 / 41328193
pituitary gland2 / 16585120
placenta33 / 280825117
prostate332 / 1893451753
salivary gland6 / 20155297
skin54 / 210574256
spleen8 / 53952148
stomach20 / 96619206
testis28 / 33044284
thymus6 / 8113173
thyroid59 / 474731242
tonsil10 / 16999588
trachea0 / 524130 
umbilical cord3 / 13680219
uterus37 / 232878158
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204102_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts4083.15
Adipocyte5126.9
AdrenalCortex3217.45
Adrenalgland3270.15
Amygdala3948.95
Appendix1509.9
AtrioventricularNode759.15
BDCA4+_DentriticCells3340.95
Bonemarrow1820
BronchialEpithelialCells3684.5
CD105+_Endothelial2595.6
CD14+_Monocytes2542.6
CD19+_BCells(neg._sel.)4188.15
CD33+_Myeloid3343.85
CD34+4308.25
CD4+_Tcells3183.8
CD56+_NKCells3182.15
CD71+_EarlyErythroid1156.5
CD8+_Tcells2446.45
CardiacMyocytes4112.5
Caudatenucleus1512.85
Cerebellum3081.35
CerebellumPeduncles3946.15
CiliaryGanglion692.6
CingulateCortex2543.75
Colorectaladenocarcinoma3783.35
DorsalRootGanglion772.15
FetalThyroid3379.8
Fetalbrain4433.05
Fetalliver1802.2
Fetallung2226.4
GlobusPallidus1019.7
Heart5119.45
Hypothalamus2755.75
Kidney2879.8
Leukemia_chronicMyelogenousK-5625258.85
Leukemia_promyelocytic-HL-604263.8
Leukemialymphoblastic(MOLT-4)2576.05
Liver4630.3
Lung4763.05
Lymphnode2713.45
Lymphoma_burkitts(Daudi)5914.35
Lymphoma_burkitts(Raji)10409.4
MedullaOblongata2637.6
OccipitalLobe2023.3
OlfactoryBulb1473.45
Ovary3299.15
Pancreas2571.35
PancreaticIslet4723.15
ParietalLobe2117.65
Pituitary2336.25
Placenta2861.45
Pons1345.2
PrefrontalCortex3725.3
Prostate6270.3
Salivarygland2289.85
SkeletalMuscle2263.55
Skin1066.65
SmoothMuscle6563.5
Spinalcord2130.9
SubthalamicNucleus1638.5
SuperiorCervicalGanglion504.5
TemporalLobe2391.3
Testis3645.4
TestisGermCell3546.9
TestisIntersitial3221.95
TestisLeydigCell2756.65
TestisSeminiferousTubule3185.15
Thalamus1425.15
Thymus3345.05
Thyroid8929.1
Tongue2445.3
Tonsil3149.1
Trachea3217.35
TrigeminalGanglion728
Uterus4076.9
UterusCorpus3054.8
WholeBlood3044.6
Wholebrain3174.65
colon4495.3
pineal_day2485.26
pineal_night2807.84
retina3329.85
small_intestine3595.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12198_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
Amygdala7.63 ± 0.4
Basal Forebrain7.41 ± 0.21
Basal Part of Pons7.5 ± 0.35
Cerebellar Cortex7.77 ± 0.2
Cerebellar Nuclei7.32 ± 0.34
Claustrum7.62 ± 0.41
Epithalamus6.92 ± 0.38
Frontal Lobe7.51 ± 0.35
Globus Pallidus7.13 ± 0.42
Hypothalamus7.14 ± 0.36
Insula7.32 ± 0.4
Limbic Lobe7.5 ± 0.42
Mesencephalon7.45 ± 0.42
Myelencephalon7.5 ± 0.35
Occipital Lobe7.49 ± 0.37
Parietal Lobe7.6 ± 0.39
Pontine Tegmentum7.32 ± 0.39
Striatum7.17 ± 0.34
Subthalamus7.08 ± 0.57
Temporal Lobe7.51 ± 0.32
Thalamus7.43 ± 0.38
White Matter7.11 ± 0.29
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Eef2CBCerebellum80.83
100
Eef2CTXCerebral cortex100
100
Eef2HIPHippocampal region100
100
Eef2HPFHippocampal formation100
100
Eef2HYHypothalamus100
100
Eef2LSXLateral septal complex100
97.89
Eef2MBMidbrain100
100
Eef2MYMedulla100
100
Eef2OLFOlfactory bulb98.83
99.16
Eef2PPons100
100
Eef2PALPallidum100
100
Eef2RHPRetrohippocampal region100
100
Eef2sAMYStriatum-like amygdalar nuclei100
100
Eef2STRStriatum100
100
Eef2STRdStriatum dorsal region100
100
Eef2STRvStriatum ventral region98.54
92.34
Eef2THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
EF2_HUMAN_0 0 0 0 ALLELQLEPEELYQTFQR PRIDE
EF2_HUMAN_0 0 0 0 EGIPALDNFLDKL PRIDE
EF2_HUMAN_0 0 0 0 ETVSEESNVLCLSK PRIDE
EF2_HUMAN_0 0 0 0 TFCQLILDPIFK PRIDE
EF2_HUMAN_0 0 0 0 VFSGLVSTGLK PRIDE
EF2_HUMAN_0 0 0 0 YVEPIEDVPCGNIVGLVGVDQFLVK PRIDE
EF2_HUMAN_1 9 1 9 VNFTVDQIR PRIDE
EF2_HUMAN_144 6 144 149 QAIAER PRIDE
EF2_HUMAN_162 18 162 179 ALLELQLEPEELYQTFQR PRIDE
EF2_HUMAN_2 9 2 10 VNFTVDQIR PRIDE
EF2_HUMAN_20 12 20 31 NMSVIAHVDHGK PRIDE
EF2_HUMAN_20 22 20 41 NMSVIAHVDHGKSTLTDSLVCK PRIDE
EF2_HUMAN_226 9 226 234 QFAEMYVAK PRIDE
EF2_HUMAN_235 14 235 248 FAAKGEGQLGPAER PRIDE
EF2_HUMAN_239 10 239 248 GEGQLGPAER PRIDE
EF2_HUMAN_251 7 251 257 KVEDMMK PRIDE
EF2_HUMAN_264 8 264 271 YFDPANGK PRIDE
EF2_HUMAN_287 12 287 298 TFCQLILDPIFK PRIDE
EF2_HUMAN_299 15 299 313 VFDAIMNFKKEETAK PRIDE
EF2_HUMAN_299 9 299 307 VFDAIMNFK PRIDE
EF2_HUMAN_314 8 314 321 LIEKLDIK PRIDE
EF2_HUMAN_32 10 32 41 STLTDSLVCK PRIDE
EF2_HUMAN_341 25 341 365 RWLPAGDALLQMITIHLPSPVTAQK PRIDE
EF2_HUMAN_342 24 342 365 WLPAGDALLQMITIHLPSPVTAQK PRIDE
EF2_HUMAN_391 9 391 399 GPLMMYISK PRIDE
EF2_HUMAN_415 11 415 425 VFSGLVSTGLK PRIDE
EF2_HUMAN_428 10 428 437 IMGPNYTPGK PRIDE
EF2_HUMAN_438 11 438 448 KEDLYLKPIQR PRIDE
EF2_HUMAN_439 10 439 448 EDLYLKPIQR PRIDE
EF2_HUMAN_456 25 456 480 YVEPIEDVPCGNIVGLVGVDQFLVK PRIDE
EF2_HUMAN_481 14 481 494 TGTITTFEHAHNMR PRIDE
EF2_HUMAN_498 8 498 505 FSVSPVVR PRIDE
EF2_HUMAN_506 13 506 518 VAVEAKNPADLPK PRIDE
EF2_HUMAN_529 30 529 558 SDPMVQCIIEESGEHIIAGAGELHLEICLK PRIDE
EF2_HUMAN_559 12 559 570 DLEEDHACIPIK PRIDE
EF2_HUMAN_580 14 580 593 ETVSEESNVLCLSK PRIDE
EF2_HUMAN_605 20 605 624 ARPFPDGLAEDIDKGEVSAR PRIDE
EF2_HUMAN_607 18 607 624 PFPDGLAEDIDKGEVSAR PRIDE
EF2_HUMAN_608 18 608 625 PFPDGLAEDIDKGEVSAR PRIDE
EF2_HUMAN_625 6 625 630 QELKQR PRIDE
EF2_HUMAN_633 14 633 646 YLAEKYEWDVAEAR PRIDE
EF2_HUMAN_633 15 633 647 YLAEKYEWDVAEARK PRIDE
EF2_HUMAN_638 9 638 646 YEWDVAEAR PRIDE
EF2_HUMAN_647 20 647 666 KIWCFGPDGTGPNILTDITK PRIDE
EF2_HUMAN_648 19 648 666 IWCFGPDGTGPNILTDITK PRIDE
EF2_HUMAN_667 21 667 687 GVQYLNEIKDSVVAGFQWATK PRIDE
EF2_HUMAN_71 19 71 89 STAISLFYELSENDLNFIK PRIDE
EF2_HUMAN_71 22 71 92 STAISLFYELSENDLNFIKQSK PRIDE
EF2_HUMAN_726 13 726 738 RCLYASVLTAQPR PRIDE
EF2_HUMAN_727 12 727 738 CLYASVLTAQPR PRIDE
EF2_HUMAN_728 12 728 739 CLYASVLTAQPR PRIDE
EF2_HUMAN_739 26 739 764 LMEPIYLVEIQCPEQVVGGIYGVLNR PRIDE
EF2_HUMAN_739 27 739 765 LMEPIYLVEIQCPEQVVGGIYGVLNRK PRIDE
EF2_HUMAN_766 19 766 784 RGHVFEESQVAGTPMFVVK PRIDE
EF2_HUMAN_767 18 767 784 GHVFEESQVAGTPMFVVK PRIDE
EF2_HUMAN_785 16 785 800 AYLPVNESFGFTADLR PRIDE
EF2_HUMAN_823 16 823 838 PFDNSSRPSQVVAETR PRIDE
EF2_HUMAN_830 9 830 838 PSQVVAETR PRIDE
EF2_HUMAN_842 16 842 857 GLKEGIPALDNFLDKL PRIDE
EF2_HUMAN_845 13 845 857 EGIPALDNFLDKL PRIDE
EF2_HUMAN_93 27 93 119 DGAGFLINLIDSPGHVDFSSEVTAALR PRIDE
PAp00000679 20 606 625 ARPFPDGLAEDIDKGEVSAR 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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