AutismKB 2.0

Evidence Details for ARID2


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Basic Information Top
Gene Symbol:ARID2 ( BAF200,DKFZp686G052,DKFZp779P0222,FLJ30619,KIAA1557,p200 )
Gene Full Name: AT rich interactive domain 2 (ARID, RFX-like)
Band: 12q12
Quick LinksEntrez ID:196528; OMIM: 609539; Uniprot ID:ARID2_HUMAN; ENSEMBL ID: ENSG00000189079; HGNC ID: 18037
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ARID2|196528|nucleotide
ATGGCAAACTCGACGGGGAAGGCGCCTCCGGACGAGCGGAGAAAGGGACTCGCTTTCCTGGACGAGCTGCGGCAGTTCCACCACAGCAGAGGGTCGCCTTTTAAA
AAAATCCCTGCGGTGGGTGGGAAGGAGCTGGATCTTCACGGTCTCTACACCAGAGTCACTACTTTAGGCGGATTCGCGAAGGTTTCTGAGAAGAATCAGTGGGGA
GAAATTGTTGAAGAGTTCAACTTTCCCAGAAGTTGTTCTAACGCTGCCTTTGCTTTAAAACAGTATTACTTGCGTTACCTAGAAAAGTACGAGAAAGTTCATCAT
TTTGGGGAGGATGATGATGAGGTACCACCAGGCAATCCAAAGCCACAGCTTCCTATTGGTGCAATTCCATCTTCCTACAATTACCAGCAACACAGTGTGTCGGAT
TATCTGCGTCAAAGTTATGGGCTGTCCATGGACTTTAATTCGCCAAATGATTATAATAAATTGGTGCTTTCACTGTTATCTGGACTCCCAAATGAAGTGGACTTT
GCTATTAACGTATGCACTCTCCTATCAAATGAAAGCAAGCACGTCATGCAACTTGAAAAAGATCCTAAAATCATCACTTTACTACTTGCTAATGCCGGGGTGTTT
GACGACACTTTAGGATCCTTTTCCACTGTATTTGGAGAAGAATGGAAAGAGAAGACTGATAGAGACTTCGTTAAGTTTTGGAAAGACATCGTTGATGATAATGAA
GTTCGTGACCTCATTTCTGACAGAAACAAGTCTCATGAAGGTACATCAGGAGAATGGATTTGGGAGTCTTTATTTCATCCACCTCGAAAGCTGGGCATTAACGAT
ATTGAAGGACAGCGGGTACTTCAGATTGCAGTGATTTTGAGAAATCTTTCCTTTGAGGAGGGCAATGTTAAGCTCTTGGCAGCTAATCGTACCTGTCTTCGTTTC
CTATTACTTTCTGCACATAGTCATTTTATTTCTTTAAGGCAATTAGGCCTTGACACATTAGGAAATATTGCAGCTGAGCTTTTACTGGACCCTGTTGATTTCAAA
ACTACTCATCTGATGTTTCATACTGTTACAAAATGTCTAATGTCAAGGGATAGATTTTTAAAGATGAGAGGCATGGAAATTTTGGGAAATCTTTGCAAAGCAGAA
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>ARID2|196528|protein
MANSTGKAPPDERRKGLAFLDELRQFHHSRGSPFKKIPAVGGKELDLHGLYTRVTTLGGFAKVSEKNQWGEIVEEFNFPRSCSNAAFALKQYYLRYLEKYEKVHH
FGEDDDEVPPGNPKPQLPIGAIPSSYNYQQHSVSDYLRQSYGLSMDFNSPNDYNKLVLSLLSGLPNEVDFAINVCTLLSNESKHVMQLEKDPKIITLLLANAGVF
DDTLGSFSTVFGEEWKEKTDRDFVKFWKDIVDDNEVRDLISDRNKSHEGTSGEWIWESLFHPPRKLGINDIEGQRVLQIAVILRNLSFEEGNVKLLAANRTCLRF
LLLSAHSHFISLRQLGLDTLGNIAAELLLDPVDFKTTHLMFHTVTKCLMSRDRFLKMRGMEILGNLCKAEDNGVLICEYVDQDSYREIICHLTLPDVLLVISTLE
VLYMLTEMGDVACTKIAKVEKSIDMLVCLVSMDIQMFGPDALAAVKLIEHPSSSHQMLSEIRPQAIEQVQTQTHVASAPASRAVVAQHVAPPPGIVEIDSEKFAC
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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) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
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