Evidence Detail for EIF4E

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Basic Information Top
Gene Symbol:EIF4E ( CBP,EIF4E1,EIF4EL1,EIF4F,MGC111573 )
Gene Full Name: eukaryotic translation initiation factor 4E
Band: 4q21-q25
Quick LinksEntrez ID:1977; OMIM: 133440; Uniprot ID:IF4E_HUMAN; ENSEMBL ID: ENSG00000151247
Sequences Top
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 1 (1) 1 (2) 0 (0) 3 (4) 24 (6)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Neves-Pereira, 2009_1 human bloodAD case report
  • Subjects: 1 boy
  • Normal Controls: -
  • Methods: GTG banded metaphase nuclei at the 550 band level, FISH
  • Evidence Details: Screening identified a de novo balanced 46,XY,t(4;5)(q23;q31.3) translocation in a boy with classic autism.The breakpoint on chromosome four is located in a region linked to autism and maps 56 kb downstream of the EIF4E reference sequence.
Neves-Pereira, 2009_2 human blood--AD genetics: mutation screen
  • Subjects: 120 AGRE multiplex families
  • Normal Controls: 1020
  • Methods: direct sequencing of coding regions and promoter
  • Evidence Details: In two independent families, direct sequencing revealed a heterozygous single base C insertion in the EIF4E promoter region in the proband. In both of these families, the variant was also present in the second autistic sibling and the father. The variant was not found in 1020 anonymous control samples.
Neves-Pereira, 2009_3 human HeLa cell nuclear extract--- RNA expression regulation
  • Subjects: -
  • Normal Controls: -
  • Methods: Binding reactions and EMSA
  • Evidence Details: The mutation is located in a region previously identified as the EIF4E basal promoter element (4EBE) that binds hnRNPK and contains a stretch of 7 C nucleotides (C7-4EBE). The C insertion extends it to an 8 C nucleotide run (C8-4EBE).Electrophoretic mobility shift assays (EMSA) demonstrate that the C8-4EBE DNA sequence variant has an increased affinity for an abundant nuclear protein, probably hnRNPK
Kelleher lii, 2012_1 human bloodASD Mutation screen
  • Subjects: 290
  • Normal Controls: 300
  • Methods: direct sequencing
  • Evidence Details: 0 functional rare mutation was found in ASD case, 0 in control
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000130 4 4q21-23 loss 1 - Denovo CNVs; Jacquemont, 2006
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000105 4q23-24 4 D4S1591 - 2.53 - Ylisaukko-oja, 2006
AutLD0000110 4q23 4 - - 2.42 - Spence, 2006

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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