Summary ?
GeneID56478
SymbolEIF4ENIF1
Synonyms4E-T|Clast4
Descriptioneukaryotic translation initiation factor 4E nuclear import factor 1
ReferenceMIM:607445|HGNC:HGNC:16687|Ensembl:ENSG00000184708|HPRD:10456|Vega:OTTHUMG00000030793
Gene typeprotein-coding
Map location22q11.2
Pascal p-value0.088
Sherlock p-value0.405
Fetal beta-0.241
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.
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
GSMA_IGenome scan meta-analysisPsr: 0.031 
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophreniasClick to show details
NetworkShortest path distance of core genes in the Human protein-protein interaction networkContribution to shortest path in PPI network: 0.0033 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
EIF4ENIF1chr2231844182GTNM_001164501
NM_001164502
NM_019843
p.602P>Q
p.427P>Q
p.602P>Q
missense
missense
missense
SchizophreniaDNM:Fromer_2014


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.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
ABCB10.740.71
GBP30.730.68
APOL30.720.69
ABCG20.710.65
EPAS10.690.69
TGFBR20.690.63
GBP40.680.71
TGM20.680.63
APOL10.670.66
GPR1160.670.67
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
MED19-0.53-0.57
ALKBH2-0.52-0.58
C17orf48-0.51-0.54
NR2C2AP-0.51-0.54
RPL10A-0.51-0.61
ZNF821-0.50-0.49
POLB-0.50-0.55
RPL4-0.50-0.54
RPL5-0.50-0.60
RBM3-0.50-0.50

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0005515protein bindingIPI10856257 
GO:0008565protein transporter activityTAS10856257 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0015031protein transportIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005829cytosolIEA-
GO:0005634nucleusTAS10856257 
GO:0005737cytoplasmTAS10856257 

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA UP 1382904All SZGR 2.0 genes in this pathway
BENPORATH NANOG TARGETS 988594All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS STEM CELL LONG TERM 302191All SZGR 2.0 genes in this pathway
MARSON BOUND BY FOXP3 STIMULATED 1022619All SZGR 2.0 genes in this pathway
ACEVEDO LIVER CANCER UP 973570All SZGR 2.0 genes in this pathway
ACEVEDO LIVER TUMOR VS NORMAL ADJACENT TISSUE UP 863514All SZGR 2.0 genes in this pathway
PILON KLF1 TARGETS DN 19721213All SZGR 2.0 genes in this pathway
WAKABAYASHI ADIPOGENESIS PPARG RXRA BOUND 8D 882506All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-232522581Ahsa-miR-23abrainAUCACAUUGCCAGGGAUUUCC
hsa-miR-23bbrainAUCACAUUGCCAGGGAUUACC
miR-3775025091A,m8hsa-miR-377AUCACACAAAGGCAACUUUUGU
miR-493-5p327333m8hsa-miR-493-5pUUGUACAUGGUAGGCUUUCAUU