AutismKB 2.0

Annotation Detail for EEF2K


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:EEF2K ( HSU93850,MGC45041,eEF-2K )
Gene Full Name: eukaryotic elongation factor-2 kinase
Band: 16p12.2
Quick LinksEntrez ID:29904; OMIM: 606968; Uniprot ID:EF2K_HUMAN; ENSEMBL ID: ENSG00000103319; HGNC ID: 24615
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
blastocyst0 / 623190 
fetus11 / 56401219
neonate0 / 310970 
infant2 / 2362084
juvenile1 / 5555617
adult71 / 193912136
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) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor7 / 11424661
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor8 / 26384530
glioma3 / 10688328
head and neck tumor9 / 13630266
kidney tumor1 / 6895914
leukemia3 / 9584231
liver tumor1 / 9635910
lung tumor2 / 10312719
lymphoma3 / 7175541
non-neoplasia4 / 9725041
normal93 / 336030727
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer2 / 10268019
retinoblastoma2 / 4635643
skin tumor2 / 12494916
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood2 / 12347816
bone3 / 7165541
bone marrow2 / 4880140
brain25 / 110098922
cervix4 / 4817183
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye8 / 21105437
heart3 / 8962633
intestine9 / 23447238
kidney2 / 2117779
larynx1 / 2414541
liver4 / 20774319
lung4 / 33697411
lymph3 / 4427067
lymph node6 / 9161065
mammary gland6 / 15327139
mouth4 / 6705259
muscle4 / 10771537
nerve0 / 157680 
ovary0 / 1020510 
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta10 / 28082535
prostate9 / 18934547
salivary gland3 / 20155148
skin18 / 21057485
spleen2 / 5395237
stomach1 / 9661910
testis4 / 33044212
thymus1 / 8113112
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus9 / 23287838
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P140792
  • 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
Amygdala2.25 ± 1.02
Basal Forebrain1.51 ± 0.57
Basal Part of Pons1.99 ± 0.53
Cerebellar Cortex2.4 ± 0.4
Cerebellar Nuclei1.94 ± 0.75
Claustrum2.36 ± 0.9
Epithalamus1.77 ± 0.75
Frontal Lobe1.73 ± 0.73
Globus Pallidus1.79 ± 0.59
Hypothalamus1.71 ± 0.71
Insula1.46 ± 0.6
Limbic Lobe1.8 ± 0.7
Mesencephalon1.98 ± 0.65
Myelencephalon1.92 ± 0.66
Occipital Lobe2.03 ± 0.71
Parietal Lobe1.8 ± 0.68
Pontine Tegmentum1.62 ± 0.73
Striatum1.69 ± 0.77
Subthalamus2.07 ± 0.69
Temporal Lobe1.66 ± 0.63
Thalamus1.85 ± 0.66
White Matter2.02 ± 0.62
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Eef2kCBCerebellum0.79
2.02
Eef2kCTXCerebral cortex21.61
16.05
Eef2kHIPHippocampal region23.54
28.15
Eef2kHPFHippocampal formation19.56
20.92
Eef2kHYHypothalamus5.39
4.26
Eef2kLSXLateral septal complex9.2
6.86
Eef2kMBMidbrain0.79
1.39
Eef2kMYMedulla0.33
0.71
Eef2kOLFOlfactory bulb9.1
7.6
Eef2kPPons1.13
2.4
Eef2kPALPallidum5.67
5.72
Eef2kRHPRetrohippocampal region10.8
8.69
Eef2ksAMYStriatum-like amygdalar nuclei9.9
7.22
Eef2kSTRStriatum3.37
2.64
Eef2kSTRdStriatum dorsal region2.03
1.77
Eef2kSTRvStriatum ventral region1.22
0.96
Eef2kTHThalamus3.19
3.25
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
EF2K_HUMAN_2 8 2 9 ADEDLIFR PRIDE
PAp00072577 18 407 424 LDHLHWPVFSDLDNMASR 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