AutismKB 2.0

Evidence Details for EIF2C4


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Basic Information Top
Gene Symbol:EIF2C4 ( AGO4 )
Gene Full Name: eukaryotic translation initiation factor 2C, 4
Band: 1p34.3
Quick LinksEntrez ID:192670; OMIM: 607356; Uniprot ID:AGO4_HUMAN; ENSEMBL ID: ENSG00000134698; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EIF2C4|192670|nucleotide
ATGGAGGCGCTGGGACCCGGACCTCCGGCTAGCCTGTTTCAGCCACCTCGTCGTCCTGGCCTTGGAACTGTTGGAAAACCAATTCGACTGTTAGCCAATCATTTT
CAGGTTCAGATTCCTAAAATAGATGTGTATCACTATGATGTGGATATTAAGCCTGAAAAACGGCCTCGTAGAGTCAACAGGGAGGTAGTAGATACAATGGTGCGG
CACTTCAAGATGCAAATATTTGGTGATCGGCAGCCTGGGTATGATGGCAAAAGAAACATGTACACAGCACATCCACTACCAATTGGACGGGATAGGGTTGATATG
GAGGTGACTCTTCCAGGCGAGGGTAAAGACCAAACATTTAAAGTGTCTGTTCAGTGGGTGTCAGTTGTGAGCCTTCAGTTGCTTTTAGAAGCTTTGGCTGGGCAC
TTGAATGAAGTCCCAGATGACTCAGTACAAGCACTTGATGTTATCACAAGACACCTTCCCTCCATGAGGTACACCCCAGTGGGCCGTTCCTTTTTCTCACCCCCG
GAAGGTTACTACCACCCTCTGGGAGGGGGCAGGGAGGTCTGGTTTGGTTTTCATCAGTCTGTGAGACCTGCCATGTGGAATATGATGCTCAACATTGATGTATCT
GCAACTGCTTTCTACCGGGCTCAGCCTATCATTGAGTTCATGTGTGAGGTTTTAGACATTCAGAACATCAATGAACAGACCAAACCTCTAACAGACTCCCAGCGT
GTCAAATTTACCAAAGAAATCAGAGGTCTCAAAGTTGAGGTGACCCACTGTGGACAGATGAAACGAAAATACCGAGTTTGTAATGTGACTAGACGGCCAGCCAGT
CATCAAACTTTTCCTTTGCAGCTAGAAAACGGTCAAGCTATGGAATGTACAGTAGCTCAATATTTTAAGCAAAAGTATAGTCTGCAACTGAAATACCCCCATCTT
CCCTGTCTCCAAGTGGGACAAGAACAAAAGCATACATACTTGCCACTCGAGGTCTGTAATATAGTGGCAGGACAGCGATGTATCAAGAAGCTCACAGACAATCAG
ACTTCCACAATGATCAAAGCTACAGCAAGATCTGCTCCTGACAGACAGGAAGAGATCAGTAGACTGGTGAAGAGCAACAGTATGGTGGGTGGACCTGATCCATAC
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>EIF2C4|192670|protein
MEALGPGPPASLFQPPRRPGLGTVGKPIRLLANHFQVQIPKIDVYHYDVDIKPEKRPRRVNREVVDTMVRHFKMQIFGDRQPGYDGKRNMYTAHPLPIGRDRVDM
EVTLPGEGKDQTFKVSVQWVSVVSLQLLLEALAGHLNEVPDDSVQALDVITRHLPSMRYTPVGRSFFSPPEGYYHPLGGGREVWFGFHQSVRPAMWNMMLNIDVS
ATAFYRAQPIIEFMCEVLDIQNINEQTKPLTDSQRVKFTKEIRGLKVEVTHCGQMKRKYRVCNVTRRPASHQTFPLQLENGQAMECTVAQYFKQKYSLQLKYPHL
PCLQVGQEQKHTYLPLEVCNIVAGQRCIKKLTDNQTSTMIKATARSAPDRQEEISRLVKSNSMVGGPDPYLKEFGIVVHNEMTELTGRVLPAPMLQYGGRNKTVA
TPNQGVWDMRGKQFYAGIEIKVWAVACFAPQKQCREDLLKSFTDQLRKISKDAGMPIQGQPCFCKYAQGADSVEPMFKHLKMTYVGLQLIVVILPGKTPVYAEVK
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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (3)
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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top