AutismKB 2.0

Evidence Details for ADD3


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Basic Information Top
Gene Symbol:ADD3 ( ADDL )
Gene Full Name: adducin 3 (gamma)
Band: 10q25.1-q25.2
Quick LinksEntrez ID:120; OMIM: 601568; Uniprot ID:ADDG_HUMAN; ENSEMBL ID: ENSG00000148700; HGNC ID: 245
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ADD3|120|nucleotide
ATGAGCTCAGATGCCAGCCAAGGCGTGATTACCACTCCTCCTCCTCCCAGCATGCCTCACAAAGAGAGATATTTTGACCGCATCAATGAAAATGACCCAGAATAC
ATTAGGGAGAGGAACATGTCTCCTGATCTACGACAAGACTTCAACATGATGGAGCAGAGGAAACGAGTTACTCAGATCCTGCAAAGTCCTGCCTTTCGGGAAGAC
TTGGAATGCCTTATTCAAGAACAGATGAAGAAAGGCCACAACCCAACTGGATTACTAGCATTACAGCAGATTGCAGATTACATCATGGCCAATTCTTTCTCGGGT
TTTTCTTCACCTCCTCTCAGTCTTGGCATGGTCACACCTATCAATGACCTTCCTGGTGCAGATACATCCTCATATGTGAAGGGAGAAAAACTTACTCGCTGTAAA
CTTGCCAGCCTGTACAGACTTGTAGACTTGTTTGGATGGGCACACCTGGCAAATACCTATATCTCAGTAAGAATAAGTAAGGAGCAAGACCACATTATAATAATT
CCCAGAGGCCTATCTTTTTCTGAAGCTACAGCCTCCAATTTGGTGAAAGTCAATATAATAGGAGAAGTGGTTGACCAGGGAAGTACCAATTTGAAAATTGACCAT
ACAGGATTCAGTCCCCATGCTGCAATCTATTCAACACGTCCTGATGTTAAGTGTGTGATACACATCCATACCCTTGCAACAGCAGCTGTATCCTCCATGAAATGT
GGGATCCTTCCAATTTCTCAAGAGTCTCTTCTTCTGGGAGATGTTGCCTATTATGACTACCAAGGGTCACTTGAAGAACAGGAGGAGAGAATTCAACTGCAGAAG
GTTCTGGGACCAAGTTGTAAGGTGCTGGTACTCAGGAATCATGGTGTGGTTGCACTTGGAGAAACATTAGAGGAGGCTTTTCATTATATTTTTAATGTGCAACTA
GCCTGTGAGATTCAGGTGCAGGCCCTAGCAGGTGCAGGTGGAGTAGACAATCTCCATGTACTGGACTTTCAGAAGTATAAAGCTTTCACTTACACTGTAGCAGCG
TCTGGTGGAGGAGGTGTGAATATGGGTTCCCATCAAAAATGGAAGGTTGGCGAAATTGAGTTTGAAGGGCTTATGAGGACTCTGGACAACTTGGGGTATAGAACA
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>ADD3|120|protein
MSSDASQGVITTPPPPSMPHKERYFDRINENDPEYIRERNMSPDLRQDFNMMEQRKRVTQILQSPAFREDLECLIQEQMKKGHNPTGLLALQQIADYIMANSFSG
FSSPPLSLGMVTPINDLPGADTSSYVKGEKLTRCKLASLYRLVDLFGWAHLANTYISVRISKEQDHIIIIPRGLSFSEATASNLVKVNIIGEVVDQGSTNLKIDH
TGFSPHAAIYSTRPDVKCVIHIHTLATAAVSSMKCGILPISQESLLLGDVAYYDYQGSLEEQEERIQLQKVLGPSCKVLVLRNHGVVALGETLEEAFHYIFNVQL
ACEIQVQALAGAGGVDNLHVLDFQKYKAFTYTVAASGGGGVNMGSHQKWKVGEIEFEGLMRTLDNLGYRTGYAYRHPLIREKPRHKSDVEIPATVTAFSFEDDTV
PLSPLKYMAQRQQREKTRWLNSPNTYMKVNVPEESRNGETSPRTKITWMKAEDSSKVSGGTPIKIEDPNQFVPLNTNPNEVLEKRNKIREQNRYDLKTAGPQSQL
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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 (1) 0 (0) 0 (0) 0 (0) 1 (1) 1 (1) 0 (0) 0 (0) 11 (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
Nord, 2011 US aCGH--ASD - - - - 41 367 408
Linkage Studies Top