AutismKB 2.0

Evidence Details for EDC4


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Basic Information Top
Gene Symbol:EDC4 ( Ge-1,HEDLS,RCD-8 )
Gene Full Name: enhancer of mRNA decapping 4
Band: 16q22.1
Quick LinksEntrez ID:23644; OMIM: 606030; Uniprot ID:EDC4_HUMAN; ENSEMBL ID: ENSG00000038358; HGNC ID: 17157
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EDC4|23644|nucleotide
ATGGCCTCCTGCGCGAGCATCGACATCGAGGACGCCACGCAGCACCTGCGGGACATCCTCAAGCTGGACCGGCCCGCGGGCGGCCCCAGTGCAGAGAGCCCACGG
CCATCCAGTGCCTACAATGGGGACCTCAATGGACTTCTGGTCCCAGACCCGCTCTGCTCAGGTGATAGTACCTCAGCAAACAAGACTGGTCTTCGGACCATGCCA
CCCATTAACCTGCAAGAGAAGCAGGTCATCTGTCTCTCAGGAGATGATAGCTCCACCTGCATTGGGATTTTGGCCAAGGAGGTGGAGATTGTGGCTAGCAGTGAC
TCTAGCATTTCAAGCAAGGCCCGGGGAAGCAACAAGGTGAAAATTCAGCCTGTCGCCAAGTATGACTGGGAACAGAAGTACTACTATGGCAACCTGATTGCTGTG
TCTAACTCCTTCTTGGCCTATGCCATTCGGGCTGCCAACAATGGCTCTGCCATGGTGCGGGTGATCAGCGTCAGCACTTCGGAGCGGACCTTGCTCAAGGGCTTC
ACAGGCAGTGTGGCTGATCTGGCTTTCGCGCACCTCAACTCTCCACAGCTGGCCTGCCTGGATGAGGCAGGCAACCTGTTCGTGTGGCGCTTGGCTCTGGTTAAT
GGCAAAATTCAAGAAGAGATCTTGGTCCATATTCGGCAGCCAGAGGGCACGCCACTGAACCACTTTCGCAGGATCATCTGGTGCCCCTTCATCCCTGAGGAGAGC
GAAGACTGCTGTGAGGAGAGCAGCCCAACAGTGGCCCTGCTGCATGAAGACCGGGCTGAGGTGTGGGACCTGGACATGCTCCGCTCCAGCCACAGTACCTGGCCT
GTGGATGTTAGCCAGATCAAGCAGGGCTTCATTGTGGTAAAAGGTCATAGCACGTGCCTCAGTGAAGGAGCCCTCTCTCCTGATGGGACTGTGCTGGCTACTGCG
AGCCACGATGGCTATGTCAAGTTCTGGCAGATCTACATTGAGGGGCAAGATGAGCCAAGGTGTCTGCACGAGTGGAAACCTCATGATGGGCGGCCCCTCTCCTGC
CTCCTGTTCTGTGACAACCATAAGAAACAAGACCCTGATGTCCCTTTCTGGAGGTTCCTTATTACTGGTGCTGACCAGAACCGAGAGTTAAAGATGTGGTGTACA
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>EDC4|23644|protein
MASCASIDIEDATQHLRDILKLDRPAGGPSAESPRPSSAYNGDLNGLLVPDPLCSGDSTSANKTGLRTMPPINLQEKQVICLSGDDSSTCIGILAKEVEIVASSD
SSISSKARGSNKVKIQPVAKYDWEQKYYYGNLIAVSNSFLAYAIRAANNGSAMVRVISVSTSERTLLKGFTGSVADLAFAHLNSPQLACLDEAGNLFVWRLALVN
GKIQEEILVHIRQPEGTPLNHFRRIIWCPFIPEESEDCCEESSPTVALLHEDRAEVWDLDMLRSSHSTWPVDVSQIKQGFIVVKGHSTCLSEGALSPDGTVLATA
SHDGYVKFWQIYIEGQDEPRCLHEWKPHDGRPLSCLLFCDNHKKQDPDVPFWRFLITGADQNRELKMWCTVSWTCLQTIRFSPDIFSSVSVPPSLKVCLDLSAEY
LILSDVQRKVLYVMELLQNQEEGHACFSSISEFLLTHPVLSFGIQVVSRCRLRHTEVLPAEEENDSLGADGTHGAGAMESAAGVLIKLFCVHTKALQDVQIRFQP
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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1) 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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top