AutismKB 2.0

Evidence Details for ADCY6


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Basic Information Top
Gene Symbol:ADCY6 ( AC6,DKFZp779F075,KIAA0422 )
Gene Full Name: adenylate cyclase 6
Band: 12q13.12
Quick LinksEntrez ID:112; OMIM: 600294; Uniprot ID:ADCY6_HUMAN; ENSEMBL ID: ENSG00000174233; HGNC ID: 237
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ADCY6|112|nucleotide
ATGTCATGGTTTAGTGGCCTCCTGGTCCCTAAAGTGGATGAACGGAAAACAGCCTGGGGTGAACGCAATGGGCAGAAGCGTTCGCGGCGCCGTGGCACTCGGGCA
GGTGGCTTCTGCACGCCCCGCTATATGAGCTGCCTCCGGGATGCAGAGCCACCCAGCCCCACCCCTGCGGGCCCCCCTCGGTGCCCCTGGCAGGATGACGCCTTC
ATCCGGAGGGGCGGCCCAGGCAAGGGCAAGGAGCTGGGGCTGCGGGCAGTGGCCCTGGGCTTCGAGGATACCGAGGTGACAACGACAGCGGGCGGGACGGCTGAG
GTGGCGCCCGACGCGGTGCCCAGGAGTGGGCGATCCTGCTGGCGCCGTCTGGTGCAGGTGTTCCAGTCGAAGCAGTTCCGTTCGGCCAAGCTGGAGCGCCTGTAC
CAGCGGTACTTCTTCCAGATGAACCAGAGCAGCCTGACGCTGCTGATGGCGGTGCTGGTGCTGCTCACAGCGGTGCTGCTGGCTTTCCACGCCGCACCCGCCCGC
CCTCAGCCTGCCTATGTGGCACTGTTGGCCTGTGCCGCCGCCCTGTTCGTGGGGCTCATGGTGGTGTGTAACCGGCATAGCTTCCGCCAGGACTCCATGTGGGTG
GTGAGCTACGTGGTGCTGGGCATCCTGGCGGCAGTGCAGGTCGGGGGCGCTCTCGCAGCAGACCCGCGCAGCCCCTCTGCGGGCCTCTGGTGCCCTGTGTTCTTT
GTCTACATCGCCTACACGCTCCTCCCCATCCGCATGCGGGCTGCCGTCCTCAGCGGCCTGGGCCTCTCCACCTTGCATTTGATCTTGGCCTGGCAACTTAACCGT
GGTGATGCCTTCCTCTGGAAGCAGCTCGGTGCCAATGTGCTGCTGTTCCTCTGCACCAACGTCATTGGCATCTGCACACACTATCCAGCAGAGGTGTCTCAGCGC
CAGGCCTTTCAGGAGACCCGCGGTTACATCCAGGCCCGGCTCCACCTGCAGCATGAGAATCGGCAGCAGGAGCGGCTGCTGCTGTCGGTATTGCCCCAGCACGTT
GCCATGGAGATGAAAGAAGACATCAACACAAAAAAAGAAGACATGATGTTCCACAAGATCTACATACAGAAGCATGACAATGTCAGCATCCTGTTTGCAGACATT
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>ADCY6|112|protein
MSWFSGLLVPKVDERKTAWGERNGQKRSRRRGTRAGGFCTPRYMSCLRDAEPPSPTPAGPPRCPWQDDAFIRRGGPGKGKELGLRAVALGFEDTEVTTTAGGTAE
VAPDAVPRSGRSCWRRLVQVFQSKQFRSAKLERLYQRYFFQMNQSSLTLLMAVLVLLTAVLLAFHAAPARPQPAYVALLACAAALFVGLMVVCNRHSFRQDSMWV
VSYVVLGILAAVQVGGALAADPRSPSAGLWCPVFFVYIAYTLLPIRMRAAVLSGLGLSTLHLILAWQLNRGDAFLWKQLGANVLLFLCTNVIGICTHYPAEVSQR
QAFQETRGYIQARLHLQHENRQQERLLLSVLPQHVAMEMKEDINTKKEDMMFHKIYIQKHDNVSILFADIEGFTSLASQCTAQELVMTLNELFARFDKLAAENHC
LRIKILGDCYYCVSGLPEARADHAHCCVEMGVDMIEAISLVREVTGVNVNMRVGIHSGRVHCGVLGLRKWQFDVWSNDVTLANHMEAGGRAGRIHITRATLQYLN
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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 (2) 0 (0) 0 (0) 0 (0) 10 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Yuen RK, 2016 200 - 301 Genome-wide characteristics of de novo mutations in autism.
Michaelson JJ, 2012 - 10 565 Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (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