AutismKB 2.0

Evidence Details for EIF3B


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Basic Information Top
Gene Symbol:EIF3B ( EIF3-ETA,EIF3-P110,EIF3-P116,EIF3S9,MGC104664,MGC131875,PRT1 )
Gene Full Name: eukaryotic translation initiation factor 3, subunit B
Band: 7p22.3
Quick LinksEntrez ID:8662; OMIM: 603917; Uniprot ID:EIF3B_HUMAN; ENSEMBL ID: ENSG00000106263; HGNC ID: 3280
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EIF3B|8662|nucleotide
ATGCAGGACGCGGAGAACGTGGCGGTGCCCGAGGCGGCCGAGGAGCGCGCCGAGCCCGGCCAGCAGCAGCCGGCCGCCGAGCCGCCGCCAGCCGAGGGGCTGCTG
CGGCCCGCGGGGCCCGGCGCTCCGGAGGCCGCGGGGACCGAGGCCTCCAGTGAGGAGGTGGGGATCGCGGAGGCCGGGCCGGAGTCCGAGGTGAGGACCGAGCCG
GCGGCCGAGGCAGAGGCGGCCTCCGGCCCGTCCGAGTCGCCCTCGCCGCCGGCCGCCGAGGAGCTGCCCGGGTCGCATGCTGAGCCCCCTGTCCCGGCACAGGGC
GAGGCCCCAGGAGAGCAGGCTCGGGACGAGCGCTCCGACAGCCGGGCCCAGGCGGTGTCCGAGGACGCGGGAGGAAACGAGGGCAGAGCGGCCGAGGCCGAACCC
CGGGCGCTGGAGAACGGCGACGCGGACGAGCCCTCCTTCAGCGACCCCGAGGACTTCGTGGACGACGTGAGCGAGGAAGAATTACTGGGAGATGTACTCAAAGAT
CGGCCCCAGGAAGCAGATGGAATCGATTCGGTGATTGTAGTGGACAATGTCCCTCAGGTGGGACCCGACCGACTTGAGAAACTCAAAAATGTCATCCACAAGATC
TTTTCCAAGTTTGGGAAAATCACAAATGATTTTTATCCTGAAGAGGATGGGAAGACAAAAGGGTATATTTTCCTGGAGTACGCGTCCCCTGCCCACGCTGTGGAT
GCTGTGAAGAACGCCGACGGCTACAAGCTTGACAAGCAGCACACATTCCGGGTCAACCTCTTTACGGATTTTGACAAGTATATGACGATCAGTGACGAGTGGGAT
ATTCCAGAGAAACAGCCTTTCAAAGACCTGGGGAACTTACGTTACTGGCTTGAAGAGGCAGAATGCAGAGATCAGTACAGTGTGATTTTTGAGAGTGGAGACCGC
ACTTCCATATTCTGGAATGACGTAAAAGACCCTGTCTCAATTGAAGAAAGAGCGAGATGGACAGAGACGTATGTGCGTTGGTCTCCTAAGGGCACCTACCTGGCT
ACCTTTCATCAAAGAGGCATTGCTCTATGGGGGGGAGAGAAATTCAAGCAAATTCAGAGATTCAGCCACCAAGGGGTTCAGCTTATTGACTTCTCACCTTGTGAA
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>EIF3B|8662|protein
MQDAENVAVPEAAEERAEPGQQQPAAEPPPAEGLLRPAGPGAPEAAGTEASSEEVGIAEAGPESEVRTEPAAEAEAASGPSESPSPPAAEELPGSHAEPPVPAQG
EAPGEQARDERSDSRAQAVSEDAGGNEGRAAEAEPRALENGDADEPSFSDPEDFVDDVSEEELLGDVLKDRPQEADGIDSVIVVDNVPQVGPDRLEKLKNVIHKI
FSKFGKITNDFYPEEDGKTKGYIFLEYASPAHAVDAVKNADGYKLDKQHTFRVNLFTDFDKYMTISDEWDIPEKQPFKDLGNLRYWLEEAECRDQYSVIFESGDR
TSIFWNDVKDPVSIEERARWTETYVRWSPKGTYLATFHQRGIALWGGEKFKQIQRFSHQGVQLIDFSPCERYLVTFSPLMDTQDDPQAIIIWDILTGHKKRGFHC
ESSAHWPIFKWSHDGKFFARMTLDTLSIYETPSMGLLDKKSLKISGIKDFSWSPGGNIIAFWVPEDKDIPARVTLMQLPTRQEIRVRNLFNVVDCKLHWQKNGDY
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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 (3) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Yu, 2002 USA STS mappingPDD 105 - 105 - - 668 668
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top