AutismKB 2.0

Evidence Details 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: 4q23
Quick LinksEntrez ID:1977; OMIM: 133440; Uniprot ID:IF4E_HUMAN; ENSEMBL ID: ENSG00000151247; HGNC ID: 3287
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EIF4E|1977|nucleotide
ATGTTGGACCTGACCTCCCGCGGACAAGTGGGGACGTCCCGGAGGATGGCCGAGGCGGCGTGTAGCGCACACTTTCTGGAAACCACCCCTACTCCTAATCCCCCG
ACTACAGAAGAGGAGAAAACGGAATCTAATCAGGAGGTTGCTAACCCAGAACACTATATTAAACATCCCCTACAGAACAGATGGGCACTCTGGTTTTTTAAAAAT
GATAAAAGCAAAACTTGGCAAGCAAACCTGCGGCTGATCTCCAAGTTTGATACTGTTGAAGACTTTTGGGCTCTGTACAACCATATCCAGTTGTCTAGTAATTTA
ATGCCTGGCTGTGACTACTCACTTTTTAAGGATGGTATTGAGCCTATGTGGGAAGATGAGAAAAACAAACGGGGAGGACGATGGCTAATTACATTGAACAAACAG
CAGAGACGAAGTGACCTCGATCGCTTTTGGCTAGAGACACTTCTGTGCCTTATTGGAGAATCTTTTGATGACTACAGTGATGATGTATGTGGCGCTGTTGTTAAT
GTTAGAGCTAAAGGTGATAAGATAGCAATATGGACTACTGAATGTGAAAACAGAGAAGCTGTTACACATATAGGGAGGGTATACAAGGAAAGGTTAGGACTTCCT
CCAAAGATAGTGATTGGTTATCAGTCCCACGCAGACACAGCTACTAAGAGCGGCTCCACCACTAAAAATAGGTTTGTTGTTTAA




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>EIF4E|1977|protein
MLDLTSRGQVGTSRRMAEAACSAHFLETTPTPNPPTTEEEKTESNQEVANPEHYIKHPLQNRWALWFFKNDKSKTWQANLRLISKFDTVEDFWALYNHIQLSSNL
MPGCDYSLFKDGIEPMWEDEKNKRGGRWLITLNKQQRRSDLDRFWLETLLCLIGESFDDYSDDVCGAVVNVRAKGDKIAIWTTECENREAVTHIGRVYKERLGLP
PKIVIGYQSHADTATKSGSTTKNRFVV


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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (1) 1 (2) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 1 (1) 22 (5)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Linkage Studies Top