AutismKB 2.0

Evidence Details for EIF2C1


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Basic Information Top
Gene Symbol:EIF2C1 ( AGO1,DKFZp686M13167,EIF2C,GERP95,Q99 )
Gene Full Name: eukaryotic translation initiation factor 2C, 1
Band: 1p34.3
Quick LinksEntrez ID:26523; OMIM: 606228; Uniprot ID:AGO1_HUMAN; ENSEMBL ID: ENSG00000092847; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EIF2C1|26523|nucleotide
ATGGAAGCGGGACCCTCGGGAGCAGCTGCGGGCGCTTACCTGCCCCCCCTGCAGCAGGTGTTCCAGGCACCTCGCCGGCCTGGCATTGGCACTGTGGGGAAACCA
ATCAAGCTCCTGGCCAATTACTTTGAGGTGGACATCCCTAAGATCGACGTGTACCACTACGAGGTGGACATCAAGCCGGATAAGTGTCCCCGTAGAGTCAACCGG
GAAGTGGTGGAATACATGGTCCAGCATTTCAAGCCTCAGATCTTTGGTGATCGCAAGCCTGTGTATGATGGAAAGAAGAACATTTACACTGTCACAGCACTGCCC
ATTGGCAACGAACGGGTCGACTTTGAGGTGACAATCCCTGGGGAAGGGAAGGATCGAATCTTTAAGGTCTCCATCAAGTGGCTAGCCATTGTGAGCTGGCGAATG
CTGCATGAGGCCCTGGTCAGCGGCCAGATCCCTGTTCCCTTGGAGTCTGTGCAAGCCCTGGATGTGGCCATGAGGCACCTGGCATCCATGAGGTACACCCCTGTG
GGCCGCTCCTTCTTCTCACCGCCTGAGGGCTACTACCACCCGCTGGGGGGTGGGCGCGAGGTCTGGTTCGGCTTTCACCAGTCTGTGCGCCCTGCCATGTGGAAG
ATGATGCTCAACATTGATGTCTCAGCCACTGCCTTTTATAAGGCACAGCCAGTGATTGAGTTCATGTGTGAGGTGCTGGACATCAGGAACATAGATGAGCAGCCC
AAGCCCCTCACGGACTCTCAGCGCGTTCGCTTCACCAAGGAGATCAAGGGCCTGAAGGTGGAAGTCACCCACTGTGGACAGATGAAGAGGAAGTACCGCGTGTGT
AATGTTACCCGTCGCCCTGCTAGCCATCAGACATTCCCCTTACAGCTGGAGAGTGGACAGACTGTGGAGTGCACAGTGGCACAGTATTTCAAGCAGAAATATAAC
CTTCAGCTCAAGTATCCCCATCTGCCCTGCCTACAAGTTGGCCAGGAACAAAAGCATACCTACCTTCCCCTAGAGGTCTGTAACATTGTGGCTGGGCAGCGCTGT
ATTAAAAAGCTGACCGACAACCAGACCTCGACCATGATAAAGGCCACAGCTAGATCCGCTCCAGACAGACAGGAGGAGATCAGTCGCCTGATGAAGAATGCCAGC
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>EIF2C1|26523|protein
MEAGPSGAAAGAYLPPLQQVFQAPRRPGIGTVGKPIKLLANYFEVDIPKIDVYHYEVDIKPDKCPRRVNREVVEYMVQHFKPQIFGDRKPVYDGKKNIYTVTALP
IGNERVDFEVTIPGEGKDRIFKVSIKWLAIVSWRMLHEALVSGQIPVPLESVQALDVAMRHLASMRYTPVGRSFFSPPEGYYHPLGGGREVWFGFHQSVRPAMWK
MMLNIDVSATAFYKAQPVIEFMCEVLDIRNIDEQPKPLTDSQRVRFTKEIKGLKVEVTHCGQMKRKYRVCNVTRRPASHQTFPLQLESGQTVECTVAQYFKQKYN
LQLKYPHLPCLQVGQEQKHTYLPLEVCNIVAGQRCIKKLTDNQTSTMIKATARSAPDRQEEISRLMKNASYNLDPYIQEFGIKVKDDMTEVTGRVLPAPILQYGG
RNRAIATPNQGVWDMRGKQFYNGIEIKVWAIACFAPQKQCREEVLKNFTDQLRKISKDAGMPIQGQPCFCKYAQGADSVEPMFRHLKNTYSGLQLIIVILPGKTP
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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 (0) 0 (0) 0 (0) 0 (0) (0)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top