AutismKB 2.0

Evidence Details for ADCY1


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Basic Information Top
Gene Symbol:ADCY1 ( AC1 )
Gene Full Name: adenylate cyclase 1 (brain)
Band: 7p12.3
Quick LinksEntrez ID:107; OMIM: 103072; Uniprot ID:ADCY1_HUMAN; ENSEMBL ID: ENSG00000164742; HGNC ID: 232
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ADCY1|107|nucleotide
ATGGCGGGGGCGCCGCGCGGCGGAGGCGGCGGCGGAGGCGGCGCGGGCGAGCCCGGGGGCGCCGAGCGGGCGGCCGGGACAAGCCGCCGGCGCGGGCTCCGGGCG
TGCGACGAGGAGTTCGCTTGCCCAGAGCTGGAGGCGCTGTTCCGCGGCTACACGCTGCGGCTGGAGCAGGCGGCCACGCTGAAGGCGCTGGCCGTTCTCAGCCTG
CTGGCGGGCGCGCTGGCGCTGGCCGAGCTGCTGGGCGCGCCGGGGCCCGCGCCCGGCCTGGCCAAGGGCTCACACCCGGTGCACTGCGTCCTCTTCCTGGCGCTG
CTCGTGGTAACCAACGTCCGGTCCCTGCAGGTGCCCCAGCTGCAGCAGGTCGGCCAGCTGGCGCTGCTCTTCAGCCTCACCTTCGCGCTGCTCTGCTGTCCTTTC
GCGCTGGGCGGCCCCGCCCGGGGTTCCGCCGGGGCCGCTGGGGGGCCAGCGACCGCCGAACAAGGGGTTTGGCAGCTCCTTTTGGTCACCTTCGTGTCCTATGCC
TTGCTGCCCGTGCGCAGCCTGCTGGCCATAGGCTTTGGGCTCGTGGTGGCTGCGTCGCACTTGCTGGTCACAGCCACCTTGGTCCCCGCCAAGCGCCCACGTCTC
TGGAGGACGCTCGGTGCCAATGCCTTGCTCTTCGTCGGTGTGAACATGTATGGGGTCTTTGTGCGGATTCTGACTGAGCGTTCACAGAGGAAGGCGTTCCTGCAG
GCCCGGAGCTGCATTGAGGACCGACTGAGGCTGGAGGATGAGAACGAGAAGCAGGAGCGGCTCCTCATGAGCCTCCTGCCCCGGAACGTTGCCATGGAGATGAAG
GAGGACTTCCTGAAGCCCCCTGAGAGGATTTTCCACAAGATTTACATCCAGAGGCACGACAATGTGAGCATCCTGTTTGCTGACATCGTGGGTTTCACGGGCTTG
GCATCCCAGTGCACAGCCCAGGAGCTGGTGAAACTCCTCAATGAGCTCTTCGGCAAGTTCGATGAATTAGCCACGGAGAACCACTGTCGCCGCATCAAGATTCTC
GGGGACTGCTACTACTGCGTGTCGGGCCTCACCCAGCCCAAGACTGACCATGCCCACTGCTGTGTGGAGATGGGACTCGACATGATTGATACCATCACATCTGTG
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>ADCY1|107|protein
MAGAPRGGGGGGGGAGEPGGAERAAGTSRRRGLRACDEEFACPELEALFRGYTLRLEQAATLKALAVLSLLAGALALAELLGAPGPAPGLAKGSHPVHCVLFLAL
LVVTNVRSLQVPQLQQVGQLALLFSLTFALLCCPFALGGPARGSAGAAGGPATAEQGVWQLLLVTFVSYALLPVRSLLAIGFGLVVAASHLLVTATLVPAKRPRL
WRTLGANALLFVGVNMYGVFVRILTERSQRKAFLQARSCIEDRLRLEDENEKQERLLMSLLPRNVAMEMKEDFLKPPERIFHKIYIQRHDNVSILFADIVGFTGL
ASQCTAQELVKLLNELFGKFDELATENHCRRIKILGDCYYCVSGLTQPKTDHAHCCVEMGLDMIDTITSVAEATEVDLNMRVGLHTGRVLCGVLGLRKWQYDVWS
NDVTLANVMEAAGLPGKVHITKTTLACLNGDYEVEPGYGHERNSFLKTHNIETFFIVPSHRRKIFPGLILSDIKPAKRMKFKTVCYLLVQLMHCRKMFKAEIPFS
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 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
Wolpert, 2001 - FISHautism - - - - 1 - 1
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top