AutismKB 2.0

Evidence Details for DIP2A


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Basic Information Top
Gene Symbol:DIP2A ( C21orf106,DIP2 )
Gene Full Name: DIP2 disco-interacting protein 2 homolog A (Drosophila)
Band: 21q22.3
Quick LinksEntrez ID:23181; OMIM: 607711; Uniprot ID:DIP2A_HUMAN; ENSEMBL ID: ENSG00000160305; HGNC ID: 17217
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DIP2A|23181|nucleotide
ATGGCTGACCGCGGGTGCCCGCTGGAGGCGGCGCCGCTGCCTGCCGAGGTGCGGGAGAGCCTGGCTGAGCTGGAGCTGGAGCTGTCGGAAGATGTCCACACTGAA
GCCGTGCAAGCAGCTTTGGCCAAATACAAAGAGAGGAAGATGCCTATGCCTTCGAAGAGACGTTCTGTCCTTGTGCATTCGTCTGTGGAAACCTACACCCCTCCA
GACACGTCGTCTGCCTCAGAAGATGAGGGCTCTTTACGGCGACCCGGGCGACTCACCTCCACTCCGCTCCAGAGCCATTCCAGCGTCGAGCCCTGGCTCGACCGG
GTCATTCAGGGCTCGTCCACCTCATCCTCTGCATCCTCCACCTCATCTCACCCGGGAGGGAGACCCACCACTGCTCCCAGTGCTGCAGCCACGCCGGGGGCCGCC
GCTACCACTGCACTCGCAGGCCTCGAGGCCCACACCCACATAGATCTGCATTCTGCCCCTCCTGATGTCACCACGGGCCTCGTGGAGCATTCGTACTTTGAGCGT
CCACAGGTGGCTTCTGTGAGAAGTGTTCCTCGGGGGTGCAGCGGGAGCATGCTGGAAACAGCAGATGGTGTCCCTGTGAACAGCAGAGTGTCCTCCAAAATCCAG
CAGCTTCTGAACACCCTGAAGAGGCCAAAGCGCCCTCCACTGAAGGAGTTCTTTGTGGATGATTTTGAGGAATTGTTGGAAGTTCAGCAACCAGATCCAAATCAG
CCAAAGCCTGAGGGAAGCGAGACGAGTGTGCTGAGAGGGGAGCCTCTCACTGCAGGTGTCCCCCGACCGCCGTCGCTGTTGGCCACCTTGCAGCGCTGGGGCACA
ACACAGCCCAAATCCCCCTGTCTGACTGCCTTGGATACAACTGGGAAAGCCGTCTACACTCTCACCTATGGTAAACTTTGGAGTCGGAGTTTAAAACTAGCTTAT
ACTCTACTTAATAAACTGACAAGTAAGAATGAACCTCTACTTAAACCTGGAGACAGAGTGGCGCTCGTGTTTCCGAATAGTGACCCTGTGATGTTCATGGTTGCA
TTTTATGGGTGTCTCCTGGCAGAGCTGGTTCCTGTCCCCATAGAAGTGCCATTAACAAGAAAGGATGCAGGCAGCCAGCAGGTTGGGTTTCTGCTGGGCAGCTGT
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>DIP2A|23181|protein
MADRGCPLEAAPLPAEVRESLAELELELSEDVHTEAVQAALAKYKERKMPMPSKRRSVLVHSSVETYTPPDTSSASEDEGSLRRPGRLTSTPLQSHSSVEPWLDR
VIQGSSTSSSASSTSSHPGGRPTTAPSAAATPGAAATTALAGLEAHTHIDLHSAPPDVTTGLVEHSYFERPQVASVRSVPRGCSGSMLETADGVPVNSRVSSKIQ
QLLNTLKRPKRPPLKEFFVDDFEELLEVQQPDPNQPKPEGSETSVLRGEPLTAGVPRPPSLLATLQRWGTTQPKSPCLTALDTTGKAVYTLTYGKLWSRSLKLAY
TLLNKLTSKNEPLLKPGDRVALVFPNSDPVMFMVAFYGCLLAELVPVPIEVPLTRKDAGSQQVGFLLGSCGVFLALTTDACQKGLPKAQTGEVAAFKGWPPLSWL
VIDGKHLAKPPKDWHPLAQDTGTGTAYIEYKTSKEGSTVGVTVSHASLLAQCRALTQACGYSEAETLTNVLDFKRDAGLWHGVLTSVMNRMHVVSVPYALMKANP
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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1) 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
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top