AutismKB 2.0

Evidence Details for ADAD2


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Basic Information Top
Gene Symbol:ADAD2 ( FLJ00337,TENRL )
Gene Full Name: adenosine deaminase domain containing 2
Band: 16q24.1
Quick LinksEntrez ID:161931; OMIM: NA; Uniprot ID:ADAD2_HUMAN; ENSEMBL ID: ENSG00000140955; HGNC ID: 30714
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ADAD2|161931|nucleotide
ATGGCTTCGGCTTCTCAGGGCGCTGACGACGACGGCAGTCGTAGGAAGCCCCGCCTGGCTGCATCGTTGCAGATCAGCCCCCAGCCCCGCCCCTGGCGACCGCTA
CCCGCCCAGGCCCAAAGTGCCTGGGGGCCCGCGCCCGCGCCCGCGACGTATCGCGCGGAGGGCGGGTGGCCCCAGGTCTCGGTGTTGAGGGACAGTGGGCCTGGG
GCAGGGGCCGGAGTCGGGGAACTGGGGGCAGCCCGGGCGTGGGAAAACTTGGGGGAACAGATGGGGAAGGCCCCGAGGGTCCCTGTGCCCCCAGCAGGGCTCAGC
CTGCCGCTCAAAGACCCACCTGCCAGCCAGGCCGTGTCCTTGCTCACGGAGTACGCGGCCAGCCTGGGCATCTTCCTGCTCTTCCGGGAGGACCAGCCACCAGGT
CCCTGCTTCCCCTTCTCGGTGAGCGCGGAACTGGATGGGGTGGTCTGCCCTGCGGGCACTGCGAATAGCAAGACGGAGGCCAAACAGCAGGCAGCGCTCTCTGCC
CTCTGCTACATCCGGAGTCAGCTGGAGAACCCAGAGTCCCCCCAGACCTCCAGCCGGCCTCCACTGGCCCCCCTGAGCGTAGAGAACATCCTGACCCATGAGCAG
CGCTGCGCAGCGTTGGTGAGCGCCGGCTTTGACCTCCTGTTGGACGAGCGCTCGCCATACTGGGCCTGTAAGGGGACTGTGGCTGGAGTCATCCTGGAGAGGGAG
ATCCCGCGTGCCAGGGGCCACGTGAAGGAGATCTACAAGCTGGTGGCTCTGGGCACCGGCAGCAGCTGCTGTGCTGGCTGGCTGGAGTTCTCGGGCCAGCAGCTC
CACGACTGCCATGGCCTGGTCATCGCCCGCAGGGCCCTGCTGAGGTTCTTGTTCCGGCAGCTCCTGCTGGCCACACAGGGGGGCCCCAAGGGCAAGGAGCAGTCC
GTGCTGGCCCCCCAGCCAGGGCCCGGACCCCCATTCACCCTCAAGCCCCGCGTCTTCCTGCACCTCTACATCAGCAACACCCCCAAGGGCGCGGCCCGTGACATC
TACCTGCCCCCCACCTCGGAAGGTGGCCTCCCGCACAGCCCACCCATGCGCCTGCAGGCCCATGTGCTCGGGCAGCTGAAGCCTGTGTGCTACGTGGCGCCCTCG
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>ADAD2|161931|protein
MASASQGADDDGSRRKPRLAASLQISPQPRPWRPLPAQAQSAWGPAPAPATYRAEGGWPQVSVLRDSGPGAGAGVGELGAARAWENLGEQMGKAPRVPVPPAGLS
LPLKDPPASQAVSLLTEYAASLGIFLLFREDQPPGPCFPFSVSAELDGVVCPAGTANSKTEAKQQAALSALCYIRSQLENPESPQTSSRPPLAPLSVENILTHEQ
RCAALVSAGFDLLLDERSPYWACKGTVAGVILEREIPRARGHVKEIYKLVALGTGSSCCAGWLEFSGQQLHDCHGLVIARRALLRFLFRQLLLATQGGPKGKEQS
VLAPQPGPGPPFTLKPRVFLHLYISNTPKGAARDIYLPPTSEGGLPHSPPMRLQAHVLGQLKPVCYVAPSLCDTHVGCLSASDKLARWAVLGLGGALLAHLVSPL
YSTSLILADSCHDPPTLSRAIHTRPCLDSVLGPCLPPPYVRTALHLFAGPPVAPSEPTPDTCRGLSLNWSLGDPGIEVVDVATGRVKANAALGPPSRLCKASFLR
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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) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top