AutismKB 2.0

Evidence Details for ADCY9


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Basic Information Top
Gene Symbol:ADCY9 ( AC9,FLJ12046 )
Gene Full Name: adenylate cyclase 9
Band: 16p13.3
Quick LinksEntrez ID:115; OMIM: 603302; Uniprot ID:ADCY9_HUMAN; ENSEMBL ID: ENSG00000162104; HGNC ID: 240
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ADCY9|115|nucleotide
ATGGCTTCCCCACCCCACCAGCAGCTGCTGCATCACCACAGCACCGAGGTGAGCTGCGACTCCAGCGGGGACAGCAACAGCGTGCGCGTCAAGATCAACCCCAAG
CAGCTGTCCTCCAACAGCCACCCCAAGCACTGCAAATACAGCATCTCCTCTAGCTGCAGCAGCTCTGGGGACTCCGGGGGCGTCCCCCGGCGAGTGGGCGGCGGA
GGCCGGCTGCGCAGGCAGAAGAAGCTGCCCCAGCTGTTCGAGAGGGCCTCCAGCCGCTGGTGGGACCCCAAGTTCGACTCGGTGAACCTGGAGGAGGCCTGCCTG
GAGCGCTGCTTCCCGCAGACCCAGCGCCGGTTCCGGTATGCGCTCTTCTACATCGGCTTCGCCTGCCTTCTGTGGAGCATCTATTTTGCGGTCCACATGAGATCC
AGACTGATCGTCATGGTCGCCCCCGCGCTGTGCTTCCTCCTGGTGTGTGTGGGCTTCTTTCTGTTTACCTTCACCAAGCTGTACGCCCGGCATTACGCGTGGACC
TCGCTGGCTCTCACCCTGCTGGTGTTCGCCCTGACCCTGGCTGCGCAGTTCCAGGTCTTGACGCCTGTCTCAGGACGCGGCGACAGCTCCAACCTTACGGCCACA
GCCCGGCCCACAGATACTTGCTTATCTCAAGTGGGGAGCTTCTCCATGTGCATCGAAGTGCTCTTTTTGCTCTATACCGTCATGCACTTACCTTTGTACCTGAGT
TTGTGTCTGGGGGTGGCCTACTCTGTCCTTTTCGAGACCTTTGGCTACCATTTCCGGGATGAAGCCTGCTTCCCCTCGCCCGGAGCCGGGGCCCTGCACTGGGAG
CTGCTGAGCAGGGGGCTGCTCCACGGCTGCATCCACGCCATCGGGGTCCACCTGTTCGTCATGTCCCAGGTGAGGTCCAGGAGCACCTTCCTCAAGGTGGGGCAA
TCCATTATGCACGGGAAGGACCTGGAAGTGGAAAAAGCCCTCAAAGAGAGGATGATTCATTCCGTGATGCCAAGAATCATAGCCGATGACTTAATGAAGCAGGGA
GATGAGGAGAGTGAGAATTCTGTCAAGAGGCATGCCACCTCGAGCCCCAAGAACAGGAAGAAAAAGTCTTCCATCCAAAAAGCTCCTATAGCCTTCCGCCCTTTT
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>ADCY9|115|protein
MASPPHQQLLHHHSTEVSCDSSGDSNSVRVKINPKQLSSNSHPKHCKYSISSSCSSSGDSGGVPRRVGGGGRLRRQKKLPQLFERASSRWWDPKFDSVNLEEACL
ERCFPQTQRRFRYALFYIGFACLLWSIYFAVHMRSRLIVMVAPALCFLLVCVGFFLFTFTKLYARHYAWTSLALTLLVFALTLAAQFQVLTPVSGRGDSSNLTAT
ARPTDTCLSQVGSFSMCIEVLFLLYTVMHLPLYLSLCLGVAYSVLFETFGYHFRDEACFPSPGAGALHWELLSRGLLHGCIHAIGVHLFVMSQVRSRSTFLKVGQ
SIMHGKDLEVEKALKERMIHSVMPRIIADDLMKQGDEESENSVKRHATSSPKNRKKKSSIQKAPIAFRPFKMQQIEEVSILFADIVGFTKMSANKSAHALVGLLN
DLFGRFDRLCEETKCEKISTLGDCYYCVAGCPEPRADHAYCCIEMGLGMIKAIEQFCQEKKEMVNMRVGVHTGTVLCGILGMRRFKFDVWSNDVNLANLMEQLGV
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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) 1 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (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
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Buxbaum, 2004 USA microsatellite-based genomic screenautism 115 - 115 - - - -
Lauritsen, 2006 Faroe Islands microsatellite-based genomic screenautism - - - - 12 44 56
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018