AutismKB 2.0

Evidence Details for EEF2


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Basic Information Top
Gene Symbol:EEF2 ( EEF-2,EF2 )
Gene Full Name: eukaryotic translation elongation factor 2
Band: 19p13.3
Quick LinksEntrez ID:1938; OMIM: 130610; Uniprot ID:EF2_HUMAN; ENSEMBL ID: ENSG00000167658; HGNC ID: 3214
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EEF2|1938|nucleotide
ATGGTGAACTTCACGGTAGACCAGATCCGCGCCATCATGGACAAGAAGGCCAACATCCGCAACATGTCTGTCATCGCCCACGTGGACCATGGCAAGTCCACGCTG
ACAGACTCCCTGGTGTGCAAGGCGGGCATCATCGCCTCGGCCCGGGCCGGGGAGACACGCTTCACTGATACCCGGAAGGACGAGCAGGAGCGTTGCATCACCATC
AAGTCAACTGCCATCTCCCTCTTCTACGAGCTCTCGGAGAATGACTTGAACTTCATCAAGCAGAGCAAGGACGGTGCCGGCTTCCTCATCAACCTCATTGACTCC
CCCGGGCATGTCGACTTCTCCTCGGAGGTGACTGCTGCCCTCCGAGTCACCGATGGCGCATTGGTGGTGGTGGACTGCGTGTCAGGCGTGTGCGTGCAGACGGAG
ACAGTGCTGCGGCAGGCCATTGCCGAGCGCATCAAGCCTGTGCTGATGATGAACAAGATGGACCGCGCCCTGCTGGAGCTGCAGCTGGAGCCCGAGGAGCTCTAC
CAGACTTTCCAGCGCATCGTGGAGAACGTGAACGTCATCATCTCCACCTACGGCGAGGGCGAGAGCGGCCCCATGGGCAACATCATGATCGATCCTGTCCTCGGT
ACCGTGGGCTTTGGGTCTGGCCTCCACGGGTGGGCCTTCACCCTGAAGCAGTTTGCCGAGATGTATGTGGCCAAGTTCGCCGCCAAGGGGGAGGGCCAGTTGGGG
CCTGCCGAGCGGGCCAAGAAAGTAGAGGACATGATGAAGAAGCTGTGGGGTGACAGGTACTTTGACCCAGCCAACGGCAAGTTCAGCAAGTCAGCCACCAGCCCC
GAAGGGAAGAAGCTGCCACGCACCTTCTGCCAGCTGATCCTGGACCCCATCTTCAAGGTGTTTGATGCGATCATGAATTTCAAGAAAGAGGAGACAGCAAAACTG
ATAGAGAAACTGGACATCAAACTGGACAGCGAGGACAAGGACAAAGAAGGCAAACCCCTGCTGAAGGCTGTGATGCGCCGCTGGCTGCCTGCCGGAGACGCCTTG
TTGCAGATGATCACCATCCACCTGCCCTCCCCTGTGACGGCCCAGAAGTACCGCTGCGAGCTCCTGTACGAGGGGCCCCCGGACGACGAGGCTGCCATGGGCATT
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>EEF2|1938|protein
MVNFTVDQIRAIMDKKANIRNMSVIAHVDHGKSTLTDSLVCKAGIIASARAGETRFTDTRKDEQERCITIKSTAISLFYELSENDLNFIKQSKDGAGFLINLIDS
PGHVDFSSEVTAALRVTDGALVVVDCVSGVCVQTETVLRQAIAERIKPVLMMNKMDRALLELQLEPEELYQTFQRIVENVNVIISTYGEGESGPMGNIMIDPVLG
TVGFGSGLHGWAFTLKQFAEMYVAKFAAKGEGQLGPAERAKKVEDMMKKLWGDRYFDPANGKFSKSATSPEGKKLPRTFCQLILDPIFKVFDAIMNFKKEETAKL
IEKLDIKLDSEDKDKEGKPLLKAVMRRWLPAGDALLQMITIHLPSPVTAQKYRCELLYEGPPDDEAAMGIKSCDPKGPLMMYISKMVPTSDKGRFYAFGRVFSGL
VSTGLKVRIMGPNYTPGKKEDLYLKPIQRTILMMGRYVEPIEDVPCGNIVGLVGVDQFLVKTGTITTFEHAHNMRVMKFSVSPVVRVAVEAKNPADLPKLVEGLK
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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) 1 (2) 1 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 14 (4)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top