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