AutismKB 2.0

Evidence Details for AP2B1


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Basic Information Top
Gene Symbol:AP2B1 ( ADTB2,AP105B,AP2-BETA,CLAPB1,DKFZp781K0743 )
Gene Full Name: adaptor-related protein complex 2, beta 1 subunit
Band: 17q12
Quick LinksEntrez ID:163; OMIM: 601025; Uniprot ID:AP2B1_HUMAN; ENSEMBL ID: ENSG00000006125; HGNC ID: 563
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>AP2B1|163|nucleotide
ATGACTGACTCCAAGTATTTCACAACCAATAAAAAAGGAGAAATATTTGAACTAAAAGCTGAACTCAACAATGAAAAGAAAGAAAAGAGAAAGGAGGCTGTGAAG
AAAGTGATTGCTGCTATGACCGTGGGGAAGGATGTTAGTTCTCTCTTTCCAGACGTAGTGAACTGTATGCAGACTGACAATCTGGAACTAAAGAAGCTTGTGTAT
CTCTACTTGATGAACTACGCCAAGAGTCAGCCAGACATGGCCATCATGGCTGTAAACAGCTTTGTGAAGGACTGTGAAGATCCTAATCCTTTGATTCGAGCCTTG
GCAGTCAGAACCATGGGGTGCATCCGGGTAGACAAAATTACAGAATATCTCTGTGAGCCGCTCCGCAAGTGCTTGAAGGATGAGGATCCCTATGTTCGGAAAACA
GCAGCAGTCTGCGTGGCAAAACTCCATGATATCAATGCCCAAATGGTGGAAGATCAGGGATTTCTGGATTCTCTACGGGATCTCATAGCAGATTCAAATCCAATG
GTGGTGGCTAATGCCGTAGCGGCATTATCTGAAATCAGTGAGTCTCACCCAAACAGCAACTTACTTGATCTGAACCCACAGAACATTAATAAGCTGCTGACAGCC
CTGAATGAATGCACTGAATGGGGCCAGATTTTCATCCTGGACTGCCTGTCTAATTACAACCCTAAAGATGATCGGGAGGCTCAGAGCATCTGTGAGCGGGTAACT
CCCCGGCTATCCCATGCCAACTCAGCAGTGGTGCTTTCAGCGGTAAAAGTCCTAATGAAGTTTCTAGAATTGTTACCTAAGGATTCTGACTACTACAATATGCTG
CTGAAGAAGTTAGCCCCTCCACTTGTCACTTTGCTGTCTGGGGAGCCAGAAGTGCAGTATGTCGCCCTGAGGAACATCAACTTAATTGTCCAGAAAAGGCCTGAA
ATCTTGAAGCAGGAAATCAAAGTCTTCTTTGTGAAGTACAATGATCCCATCTATGTTAAACTAGAGAAGTTGGACATCATGATTCGTTTGGCATCTCAAGCCAAC
ATTGCTCAGGTTCTGGCAGAACTGAAAGAATATGCTACAGAGGTGGATGTTGACTTTGTTCGAAAAGCTGTGCGGGCCATTGGACGGTGTGCCATCAAGGTGGAG
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>AP2B1|163|protein
MTDSKYFTTNKKGEIFELKAELNNEKKEKRKEAVKKVIAAMTVGKDVSSLFPDVVNCMQTDNLELKKLVYLYLMNYAKSQPDMAIMAVNSFVKDCEDPNPLIRAL
AVRTMGCIRVDKITEYLCEPLRKCLKDEDPYVRKTAAVCVAKLHDINAQMVEDQGFLDSLRDLIADSNPMVVANAVAALSEISESHPNSNLLDLNPQNINKLLTA
LNECTEWGQIFILDCLSNYNPKDDREAQSICERVTPRLSHANSAVVLSAVKVLMKFLELLPKDSDYYNMLLKKLAPPLVTLLSGEPEVQYVALRNINLIVQKRPE
ILKQEIKVFFVKYNDPIYVKLEKLDIMIRLASQANIAQVLAELKEYATEVDVDFVRKAVRAIGRCAIKVEQSAERCVSTLLDLIQTKVNYVVQEAIVVIRDIFRK
YPNKYESIIATLCENLDSLDEPDARAAMIWIVGEYAERIDNADELLESFLEGFHDESTQVQLTLLTAIVKLFLKKPSETQELVQQVLSLATQDSDNPDLRDRGYI
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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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top