AutismKB 2.0

Evidence Details for EDDM3A


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Basic Information Top
Gene Symbol:EDDM3A ( EP3A,FAM12A,HE3-ALPHA,HE3A,HE3ALPHA,MGC119614,MGC119615 )
Gene Full Name: epididymal protein 3A
Band: 14q11.2
Quick LinksEntrez ID:10876; OMIM: 611580; Uniprot ID:EP3A_HUMAN; ENSEMBL ID: ENSG00000181562; HGNC ID: 16978
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EDDM3A|10876|nucleotide
ATGACATCCTCTCTAAAGATTTGGGGCATACTCTTGGCCCTGCTTTGCATCCTTTGCAGGCTGTGTGTATACAGTAACAACATTTACTGGAGAGAATTCATAAAA
CTTCATTACTTAAGTCCAAGTCGAGAATTCAAAGAGTACAAATGTGATGTCCTCATGAGAGAAAAAGAGGCTCTGAAAGGCAAGAGCTTTCATATGTTCATCTAT
AGCTTATGGTTCAAAATTCAGCGTGCATGCATCAATGAGAAGGGGAGCGACCGATATAGAAATGCATATGTATGGGCCCCAGGTGCCCTCAAAGTACTCGAGTGT
CACTGGGAGAAGTACAACAATAGGTACACAGAGAGCAGAAGCTTCAGCTACATTGAATTCCATTGTGGCGTAGATGGATATGTTGATAACATAGAAGACCTGAGG
ATTATAGAACCTATCAGCAACTAG






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>EDDM3A|10876|protein
MTSSLKIWGILLALLCILCRLCVYSNNIYWREFIKLHYLSPSREFKEYKCDVLMREKEALKGKSFHMFIYSLWFKIQRACINEKGSDRYRNAYVWAPGALKVLEC
HWEKYNNRYTESRSFSYIEFHCGVDGYVDNIEDLRIIEPISN



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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (3)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top