AutismKB 2.0

Evidence Details for ABI2


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Basic Information Top
Gene Symbol:ABI2 ( ABI-2,ABI2B,AIP-1,AblBP3,SSH3BP2,argBPIA,argBPIB )
Gene Full Name: abl-interactor 2
Band: 2q33.2
Quick LinksEntrez ID:10152; OMIM: 606442; Uniprot ID:ABI2_HUMAN; ENSEMBL ID: ENSG00000138443; HGNC ID: 24011
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ABI2|10152|nucleotide
ATGGCGGAGCTGCAGATGCTGCTGGAAGAGGAAATCCCGGGGGGCCGCCGGGCCCTCTTCGACAGCTACACAAATCTGGAACGGGTGGCCGATTACTGCGAGAAC
AACTACATACAGTCAGCAGATAAGCAGAGAGCCCTAGAAGAAACCAAAGCCTACACCACCCAATCCTTAGCAAGTGTTGCCTATCTGATAAACACCTTGGCCAAC
AATGTCCTGCAGATGCTGGATATCCAGGCATCCCAGCTACGAAGGATGGAATCTTCAATCAATCATATTTCACAAACAGTTGATATTCATAAAGAGAAAGTTGCA
AGAAGAGAAATTGGTATTTTGACTACCAATAAAAACACTTCAAGGACACATAAGATTATTGCTCCAGCCAACCTTGAACGACCAGTTCGTTATATTAGAAAACCT
ATTGACTATACAATTCTAGATGATATTGGACATGGAGTAAAGGTGAGTACCCAGAACATGAAGATGGGTGGGCTGCCGCGTACAACACCTCCAACTCAGAAGCCC
CCTAGTCCCCCTATGTCAGGGAAAGGGACACTTGGGCGGCACTCCCCCTATCGCACACTGGAGCCAGTGCGTCCTCCAGTGGTACCAAATGATTACGTACCTAGC
CCAACCCGTAATATGGCTCCCTCGCAGCAGAGCCCTGTGAGGACAGCTTCTGTGAATCAAAGAAATCGAACTTACAGCAGCAGTGGGAGTAGTGGAGGGAGCCAC
CCAAGTAGTCGGAGCAGCAGTCGAGAGAACAGTGGAAGTGGTAGTGTGGGGGTTCCTATTGCTGTTCCTACTCCATCTCCTCCCAGTGTCTTTCCAGGTCATCCT
GTACAGTTCTACAGCATGAATAGGCCTGCCTCTCGCCATACTCCCCCAACAATAGGGGGCTCGTTGCCCTATAGACGCCCTCCTTCCATTACTTCACAAACAAGC
CTTCAGAATCAGATGAATGGAGGACCTTTTTATAGCCAGAATCCAGTATCTCTTGCTCCTCCTCCTCCCTCCATCCTACAGGTAACTCCTCAGTTACCTTTAATG
GGATTTGTGGCCAGAGTCCAAGAAAATATTTCAGATACACCACCTCCACCGCCACCTGTGGAAGAACCAGTCTTTGATGAGTCTCCCCCACCTCCTCCTCCTCCA
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>ABI2|10152|protein
MAELQMLLEEEIPGGRRALFDSYTNLERVADYCENNYIQSADKQRALEETKAYTTQSLASVAYLINTLANNVLQMLDIQASQLRRMESSINHISQTVDIHKEKVA
RREIGILTTNKNTSRTHKIIAPANLERPVRYIRKPIDYTILDDIGHGVKVSTQNMKMGGLPRTTPPTQKPPSPPMSGKGTLGRHSPYRTLEPVRPPVVPNDYVPS
PTRNMAPSQQSPVRTASVNQRNRTYSSSGSSGGSHPSSRSSSRENSGSGSVGVPIAVPTPSPPSVFPGHPVQFYSMNRPASRHTPPTIGGSLPYRRPPSITSQTS
LQNQMNGGPFYSQNPVSLAPPPPSILQVTPQLPLMGFVARVQENISDTPPPPPPVEEPVFDESPPPPPPPEDYEEEEAAVVEYSDPYAEEDPPWAPRSYLEKVVA
IYDYTKDKEDELSFQEGAIIYVIKKNDDGWYEGVMNGVTGLFPGNYVESIMHYSE
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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 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top