AutismKB 2.0

Evidence Details for EEF1D


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Basic Information Top
Gene Symbol:EEF1D ( EF-1D,EF1D,FLJ20897,FP1047 )
Gene Full Name: eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)
Band: 8q24.3
Quick LinksEntrez ID:1936; OMIM: 130592; Uniprot ID:EF1D_HUMAN; ENSEMBL ID: ENSG00000104529; HGNC ID: 3211
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EEF1D|1936|nucleotide
ATGAGGAGCGGGAAGGCCTCCTGCACCCTGGAGACCGTGTGGGAAGACAAGCACAAGTATGAGGAGGCCGAGCGGCGCTTCTACGAACACGAGGCCACACAGGCG
GCCGCCTCCGCCCAGCAGCTGCCAGCCGAGGGGCCAGCCATGAATGGGCCCGGCCAGGACGACCCTGAGGACGCTGATGAGGCGGAAGCCCCTGACGGCGGCAGC
AGGCGTGATCCCAGGAAGAGCCAGGACAGCAGGAAGCCCCTGCAGAAAAAGAGGAAGCGCTCCCCCAAGAGCGGGCTCGGCCCCGCGGACCTGGCCCTCCTGGGC
CTCTCGGCCGAACGCGTGTGGCTGGACAAGTCACTTTTCGACCAGGCAGAGAGCTCCTACCGCCAGAAGCTGGCAGATGTGGCTGCCCAGGCAGCCTGGCCTCCT
GCCTTGGCCCCTTGGGGTCTCTGCACCCATGGAAACCAGGTGGCCTGCCACCACGTGACCTGGGGGATCTGGGTCAACAAGTCCTCCTTCGACCAGGCTGAGCGG
GCCTTCGTGGAGTGGTCTCAGGCCCTGTTGCTGGCCCCCGAGGGCAGCCGCAGGCAGGGGACTCCCAACACAGGCCAGCAGGTGGCCGTCCCCGACCTGGCCCAC
CAGCCCAGCCCACCGGTCAATGGCCAGCCCCCGCTGGGCAGCCTGCAGGCACTGGTTCGGGAGGTGTGGCTGGAGAAGCCCCGGTATGATGCAGCCGAGAGGGGC
TTCTACGAGGCCCTGTTTGACGGCCATCCCCCAGGGAAGGTGCGCCTGCAAGAGCGAGCCGGCCTGGCCGAGGGTGCCCGGCGGGGCCGCAGAGACCGGCGGGGC
CGCAACATCTTAGGGAACAAGCGGGCCGGGCTGCGACGGGCCGATGGGGAGGCCCCCTCTGCCTTGCCCTACTGTTACTTCCTGCAGAAGGATGCAGAGGCCCCC
TGGCTCAGCAAGCCTGCCTACGACAGCGCCGAGTGCCGCCACCACGCTGCCGAGGCCCTGCGGGTGGCCTGGTGCCTCGAAGCTGCCTCCCTGTCTCACCGACCC
GGTCCTCGGTCTGGCCTGTCCGTGTCCAGCCTGAGACCCAACAGAAAAATGGCTACAAACTTCCTAGCACATGAGAAGATCTGGTTCGACAAGTTCAAATATGAC
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>EEF1D|1936|protein
MRSGKASCTLETVWEDKHKYEEAERRFYEHEATQAAASAQQLPAEGPAMNGPGQDDPEDADEAEAPDGGSRRDPRKSQDSRKPLQKKRKRSPKSGLGPADLALLG
LSAERVWLDKSLFDQAESSYRQKLADVAAQAAWPPALAPWGLCTHGNQVACHHVTWGIWVNKSSFDQAERAFVEWSQALLLAPEGSRRQGTPNTGQQVAVPDLAH
QPSPPVNGQPPLGSLQALVREVWLEKPRYDAAERGFYEALFDGHPPGKVRLQERAGLAEGARRGRRDRRGRNILGNKRAGLRRADGEAPSALPYCYFLQKDAEAP
WLSKPAYDSAECRHHAAEALRVAWCLEAASLSHRPGPRSGLSVSSLRPNRKMATNFLAHEKIWFDKFKYDDAERRFYEQMNGPVAGASRQENGASVILRDIARAR
ENIQKSLAGSSGPGASSGTSGDHGELVVRIASLEVENQSLRGVVQELQQAISKLEARLNVLEKSSPGHRATAPQTQHVSPMRQVEPPAKKPATPAEDDEDDDIDL
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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 (0) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top