Summary ?
GeneID29904
SymbolEEF2K
SynonymsHSU93850|eEF-2K
Descriptioneukaryotic elongation factor 2 kinase
ReferenceMIM:606968|HGNC:HGNC:24615|Ensembl:ENSG00000103319|HPRD:07369|Vega:OTTHUMG00000094771
Gene typeprotein-coding
Map location16p12.2
Pascal p-value0.075
Sherlock p-value0.077
Fetal beta-0.233
eGeneMyers' cis & trans
Meta
SupportCompositeSet

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DNM:Fromer_2014Whole Exome Sequencing analysisThis study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.
GSMA_IIEGenome scan meta-analysis (European-ancestry samples)Psr: 0.01775 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
EEF2Kchr1622269932GANM_013302p.383E>KmissenseSchizophreniaDNM:Fromer_2014

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs929837chr1622172607EEF2K299040.12cis

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0000166nucleotide bindingIEA-
GO:0005509calcium ion bindingIEA-
GO:0005516calmodulin bindingIEA-
GO:0005524ATP bindingIEA-
GO:0004674protein serine/threonine kinase activityIEA-
GO:0004686elongation factor-2 kinase activityIEA-
GO:0016740transferase activityIEA-
GO:0008135translation factor activity, nucleic acid bindingTAS9144159 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0006414translational elongationTAS9144159 
GO:0006468protein amino acid phosphorylationIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005829cytosolEXP15809305 
GO:0005737cytoplasmTAS9144159 

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
BIOCARTA EIF PATHWAY 169All SZGR 2.0 genes in this pathway
ST ERK1 ERK2 MAPK PATHWAY 3225All SZGR 2.0 genes in this pathway
ST P38 MAPK PATHWAY 3728All SZGR 2.0 genes in this pathway
PID MTOR 4PATHWAY 6955All SZGR 2.0 genes in this pathway
PID P38 GAMMA DELTA PATHWAY 119All SZGR 2.0 genes in this pathway
REACTOME INSULIN RECEPTOR SIGNALLING CASCADE 8764All SZGR 2.0 genes in this pathway
REACTOME PKB MEDIATED EVENTS 2923All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY INSULIN RECEPTOR 10872All SZGR 2.0 genes in this pathway
REACTOME MTORC1 MEDIATED SIGNALLING 118All SZGR 2.0 genes in this pathway
REACTOME PI3K CASCADE 7151All SZGR 2.0 genes in this pathway
LIU PROSTATE CANCER DN 481290All SZGR 2.0 genes in this pathway
FULCHER INFLAMMATORY RESPONSE LECTIN VS LPS UP 579346All SZGR 2.0 genes in this pathway
BASAKI YBX1 TARGETS DN 384230All SZGR 2.0 genes in this pathway
GARGALOVIC RESPONSE TO OXIDIZED PHOSPHOLIPIDS RED DN 2519All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN 17811082All SZGR 2.0 genes in this pathway
DAIRKEE TERT TARGETS UP 380213All SZGR 2.0 genes in this pathway
KIM MYC AMPLIFICATION TARGETS UP 201127All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 6HR DN 911527All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 24HR DN 1011592All SZGR 2.0 genes in this pathway
MONNIER POSTRADIATION TUMOR ESCAPE DN 373196All SZGR 2.0 genes in this pathway
OUILLETTE CLL 13Q14 DELETION DN 6038All SZGR 2.0 genes in this pathway
ACEVEDO NORMAL TISSUE ADJACENT TO LIVER TUMOR DN 354216All SZGR 2.0 genes in this pathway
FEVR CTNNB1 TARGETS UP 682433All SZGR 2.0 genes in this pathway
ZWANG CLASS 1 TRANSIENTLY INDUCED BY EGF 516308All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
let-7/9810641070m8hsa-let-7abrainUGAGGUAGUAGGUUGUAUAGUU
hsa-let-7bbrainUGAGGUAGUAGGUUGUGUGGUU
hsa-let-7cbrainUGAGGUAGUAGGUUGUAUGGUU
hsa-let-7dbrainAGAGGUAGUAGGUUGCAUAGU
hsa-let-7ebrainUGAGGUAGGAGGUUGUAUAGU
hsa-let-7fbrainUGAGGUAGUAGAUUGUAUAGUU
hsa-miR-98brainUGAGGUAGUAAGUUGUAUUGUU
hsa-let-7gSZUGAGGUAGUAGUUUGUACAGU
hsa-let-7ibrainUGAGGUAGUAGUUUGUGCUGU
miR-19610631069m8hsa-miR-196aUAGGUAGUUUCAUGUUGUUGG
hsa-miR-196bUAGGUAGUUUCCUGUUGUUGG
miR-330168516921A,m8hsa-miR-330brainGCAAAGCACACGGCCUGCAGAGA
miR-34/4491117m8hsa-miR-34abrainUGGCAGUGUCUUAGCUGGUUGUU
hsa-miR-34cAGGCAGUGUAGUUAGCUGAUUGC
hsa-miR-449UGGCAGUGUAUUGUUAGCUGGU
hsa-miR-449bAGGCAGUGUAUUGUUAGCUGGC