AutismKB 2.0

Evidence Details for AP2A2


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Basic Information Top
Gene Symbol:AP2A2 ( ADTAB,CLAPA2,HIP9,HYPJ )
Gene Full Name: adaptor-related protein complex 2, alpha 2 subunit
Band: 11p15.5
Quick LinksEntrez ID:161; OMIM: 607242; Uniprot ID:AP2A2_HUMAN; ENSEMBL ID: ENSG00000183020; HGNC ID: 562
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>AP2A2|161|nucleotide
ATGCCGGCCGTGTCCAAGGGGGACGGGATGCGGGGCCTGGCGGTCTTCATCTCGGATATCCGCAACTGTAAAAGTAAAGAAGCAGAAATAAAAAGGATAAACAAG
GAACTGGCAAATATCAGATCAAAATTTAAAGGTGACAAGGCTCTTGATGGCTATAGTAAAAAAAAGTACGTCTGCAAGTTGCTCTTCATCTTTCTCCTTGGTCAT
GACATTGACTTTGGACACATGGAGGCTGTGAACCTGCTGAGTTCAAACAGATACACGGAAAAGCAGATCGGCTACCTTTTCATCTCTGTGTTGGTGAACTCAAAC
AGTGAGCTGATCCGCCTGATCAACAACGCCATCAAGAATGACCTGGCCAGCCGCAACCCCACCTTCATGGGCCTGGCCCTGCACTGCATCGCCAGCGTGGGCAGC
CGGGAGATGGCCGAGGCCTTCGCCGGGGAGATCCCTAAGGTCCTCGTAGCCGGAGACACTATGGACAGCGTGAAGCAGAGCGCGGCCCTGTGCTTGCTGCGCCTG
TACAGGACGTCCCCCGATCTTGTCCCCATGGGCGACTGGACATCCCGAGTGGTGCACCTGCTCAATGACCAGCACTTGGGTGTGGTAACTGCAGCCACAAGTCTG
ATCACCACTTTAGCACAGAAGAACCCAGAAGAGTTTAAAACCTCCGTGTCTCTGGCTGTCTCTAGGCTAAGCAGAATCGTGACGTCTGCATCCACAGATCTCCAG
GATTACACTTACTATTTTGTCCCGGCTCCCTGGCTGTCTGTCAAACTGCTGAGACTGCTGCAGTGCTACCCACCCCCAGACCCTGCAGTGCGAGGCCGCCTGACT
GAGTGCCTGGAGACCATCCTGAACAAAGCCCAAGAACCGCCCAAGTCGAAGAAGGTCCAGCACTCCAACGCGAAGAATGCCGTGCTCTTCGAGGCCATCAGCTTA
ATCATTCACCATGACAGTGAGCCGAACCTGCTCGTCCGTGCCTGCAACCAGTTGGGCCAGTTTCTGCAGCACCGCGAGACCAACCTGCGCTACCTGGCCCTGGAG
AGCATGTGCACGCTGGCCAGCTCTGAGTTCTCCCATGAGGCTGTCAAGACGCACATCGAGACGGTCATCAACGCCCTGAAGACTGAGCGGGACGTGAGCGTGCGG
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>AP2A2|161|protein
MPAVSKGDGMRGLAVFISDIRNCKSKEAEIKRINKELANIRSKFKGDKALDGYSKKKYVCKLLFIFLLGHDIDFGHMEAVNLLSSNRYTEKQIGYLFISVLVNSN
SELIRLINNAIKNDLASRNPTFMGLALHCIASVGSREMAEAFAGEIPKVLVAGDTMDSVKQSAALCLLRLYRTSPDLVPMGDWTSRVVHLLNDQHLGVVTAATSL
ITTLAQKNPEEFKTSVSLAVSRLSRIVTSASTDLQDYTYYFVPAPWLSVKLLRLLQCYPPPDPAVRGRLTECLETILNKAQEPPKSKKVQHSNAKNAVLFEAISL
IIHHDSEPNLLVRACNQLGQFLQHRETNLRYLALESMCTLASSEFSHEAVKTHIETVINALKTERDVSVRQRAVDLLYAMCDRSNAPQIVAEMLSYLETADYSIR
EEIVLKVAILAEKYAVDYTWYVDTILNLIRIAGDYVSEEVWYRVIQIVINRDDVQGYAAKTVFEALQAPACHENLVKVGGYILGEFGNLIAGDPRSSPLIQFHLL
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top