AutismKB 2.0

Evidence Details for ADAP1


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Basic Information Top
Gene Symbol:ADAP1 ( CENTA1,GCS1L,p42IP4 )
Gene Full Name: ArfGAP with dual PH domains 1
Band: 7p22.3
Quick LinksEntrez ID:11033; OMIM: 608114; Uniprot ID:ADAP1_HUMAN; ENSEMBL ID: ENSG00000105963,ENSG00000240230; HGNC ID: 16486
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ADAP1|11033|nucleotide
ATGGCCAAGGAGCGGCGCAGGGCGGTCCTGGAGCTGCTGCAGCGGCCGGGGAACGCGCGCTGCGCGGACTGCGGCGCCCCGGATCCCGACTGGGCCTCCTACACT
CTGGGCGTCTTCATCTGCCTGAGCTGCTCGGGAATCCACCGGAATATCCCCCAGGTCAGCAAGGTGAAGTCCGTCCGCCTGGACGCCTGGGAGGAGGCCCAAGTG
GAGTTCATGGCCTCCCACGGGAACGACGCCGCGAGAGCCAGGTTTGAGTCCAAAGTACCCTCCTTCTACTACCGGCCCACGCCCTCCGACTGCCAGCTCCTTCGA
GAGCAGTGGATCCGGGCCAAGTACGAGCGACAGGAGTTCATCTACCCGGAGAAGCAGGAGCCCTACTCGGCAGGGTACCGTGAGGGTTTTCTCTGGAAGCGTGGC
CGGGACAACGGGCAGTTTTTGAGCCGGAAGTTTGTGCTGACAGAACGAGAGGGTGCTCTGAAGTATTTCAACAGAAATGATGCCAAGGAGCCCAAGGCCGTGATG
AAGATCGAGCACCTGAACGCCACCTTCCAGCCGGCCAAGATCGGCCACCCCCACGGCCTGCAGGTCACCTACCTGAAGGACAACAGCACCCGTAACATCTTCATC
TACCATGAGGACGGGAAGGAGATTGTGGACTGGTTCAATGCACTCCGAGCTGCTCGCTTCCACTACCTGCAGGTGGCATTCCCAGGGGCCAGCGACGCAGATCTG
GTGCCAAAGCTCTCCAGGAACTACCTGAAGGAAGGCTACATGGAGAAGACGGGGCCCAAGCAAACGGAAGGCTTCCGGAAGCGCTGGTTCACCATGGATGACCGC
AGGCTCATGTACTTCAAAGACCCCCTGGACGCCTTCGCCCGAGGGGAAGTCTTCATTGGCAGCAAGGAGAGTGGCTACACGGTGCTGCATGGGTTCCCGCCGTCC
ACCCAGGGCCACCACTGGCCACATGGCATCACCATCGTCACGCCCGACCGCAAGTTTCTGTTTGCCTGCGAGACGGAGTCCGACCAGAGGGAGTGGGTGGCGGCC
TTCCAGAAGGCGGTGGACAGGCCCATGCTGCCCCAGGAGTACGCAGTGGAGGCGCACTTCAAGCATAAACCTTAG
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>ADAP1|11033|protein
MAKERRRAVLELLQRPGNARCADCGAPDPDWASYTLGVFICLSCSGIHRNIPQVSKVKSVRLDAWEEAQVEFMASHGNDAARARFESKVPSFYYRPTPSDCQLLR
EQWIRAKYERQEFIYPEKQEPYSAGYREGFLWKRGRDNGQFLSRKFVLTEREGALKYFNRNDAKEPKAVMKIEHLNATFQPAKIGHPHGLQVTYLKDNSTRNIFI
YHEDGKEIVDWFNALRAARFHYLQVAFPGASDADLVPKLSRNYLKEGYMEKTGPKQTEGFRKRWFTMDDRRLMYFKDPLDAFARGEVFIGSKESGYTVLHGFPPS
TQGHHWPHGITIVTPDRKFLFACETESDQREWVAAFQKAVDRPMLPQEYAVEAHFKHKP

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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 (3) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 10 (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
Christian, 2008 USA aCGHASD 397 35 362 - 397 372 769
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
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
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
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