AutismKB 2.0

Evidence Details for EIF3CL


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Basic Information Top
Gene Symbol:EIF3CL ( - )
Gene Full Name: eukaryotic translation initiation factor 3, subunit C-like
Band: 16p12.1
Quick LinksEntrez ID:728689; OMIM: NA; Uniprot ID:B5ME19_HUMAN; ENSEMBL ID: ENSG00000205609; HGNC ID: 26347
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EIF3CL|728689|nucleotide
ATGTCGCGGTTTTTCACCACCGGTTCGGACAGCGAGTCCGAGTCGTCCTTGTCCGGGGAGGAGCTCGTCACCAAACCTGTCGGAGGCAACTATGGCAAACAGCCA
TTGTTGCTGAGCGAGGATGAAGAAGATACCAAGAGAGTTGTCCGCAGTGCCAAGGACAAGAGGTTTGAGGAGCTGACCAACCTTATCCGGACCATCCGTAATGCC
ATGAAGATTCGTGATGTCACCAAGTGCCTGGAAGAGTTTGAGCTCCTGGGAAAAGCATATGGGAAGGCCAAAAGCATTGTGGACAAAGAAGGTGTCCCCCGGTTC
TATATCCGCATCCTGGCTGACCTAGAGGACTATCTTAATGAGCTTTGGGAAGATAAGGAAGGGAAGAAGAAGATGAACAAGAACAATGCCAAGGCTCTGAGCACC
TTGCGTCAGAAGATCCGAAAATACAACCGTGATTTCGAGTCCCATATCACAAGCTACAAGCAGAACCCCGAGCAGTCTGCGGATGAAGATGCTGAGAAAAATGAG
GAGGATTCAGAAGGCTCTTCAGATGAGGATGAGGATGAGGACGGAGTCAGTGCTGCAACTTTCTTGAAGAAGAAATCAGAAGCTCCTTCTGGGGAGAGTCGCAAG
TTCCTCAAAAAGATGGATGATGAAGATGAGGACTCAGAAGATTCCGAAGATGATGAAGACTGGGACACAGGTTCCACATCTTCCGATTCCGACTCAGAGGAGGAA
GAAGGGAAACAAACCGCGCTGGCCTCAAGATTTCTTAAAAAGGCACCCACCACAGATGAGGACAAGAAGGCAGCCGAGAAGAAACGGGAGGACAAAGCTAAGAAG
AAGCACGACAGGAAATCCAAGCGCCTGGATGAGGAGGAGGAGGAGGACAATGAAGGCGGGGAGTGGGAAAGGGTCCGGGGCGGAGTGCCGTTGGTTAAGGAGAAG
CCAAAAATGTTTGCCAAGGGAACTGAGATCACCCATGCTGTTGTTATCAAGAAACTGAATGAGATCCTACAGGCACGAGGCAAGAAGGGAACTGATCGTGCTGCC
CAGATTGAGCTGCTGCAACTGCTGGTTCAGATTGCAGCGGAAAACAACCTGGGAGAGGGCGTCATTGTCAAGATCAAGTTCAATATCATCGCCTCTCTCTATGAC
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>EIF3CL|728689|protein
MSRFFTTGSDSESESSLSGEELVTKPVGGNYGKQPLLLSEDEEDTKRVVRSAKDKRFEELTNLIRTIRNAMKIRDVTKCLEEFELLGKAYGKAKSIVDKEGVPRF
YIRILADLEDYLNELWEDKEGKKKMNKNNAKALSTLRQKIRKYNRDFESHITSYKQNPEQSADEDAEKNEEDSEGSSDEDEDEDGVSAATFLKKKSEAPSGESRK
FLKKMDDEDEDSEDSEDDEDWDTGSTSSDSDSEEEEGKQTALASRFLKKAPTTDEDKKAAEKKREDKAKKKHDRKSKRLDEEEEEDNEGGEWERVRGGVPLVKEK
PKMFAKGTEITHAVVIKKLNEILQARGKKGTDRAAQIELLQLLVQIAAENNLGEGVIVKIKFNIIASLYDYNPNLATYMKPEMWGKCLDCINELMDILFANPNIF
VGENILEESENLHNADQPLRVRGCILTLVERMDEEFTKIMQNTDPHSQEYVEHLKDEAQVCAIIERVQRYLEEKGTTEEVCRIYLLRILHTYYKFDYKAHQRQLT
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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) 2 (4) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (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
Finelli, 2004 - FISHautistic feature - - - - 2 - 2
Weiss, 2008 USA, Ireland aCGH, SNP microarrayASD 751 - - - 2252 23502 25754
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top