AutismKB 2.0

Evidence Details for AP1B1


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Basic Information Top
Gene Symbol:AP1B1 ( ADTB1,AP105A,BAM22,CLAPB2 )
Gene Full Name: adaptor-related protein complex 1, beta 1 subunit
Band: 22q12.2
Quick LinksEntrez ID:162; OMIM: 600157; Uniprot ID:AP1B1_HUMAN; ENSEMBL ID: ENSG00000100280; HGNC ID: 554
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>AP1B1|162|nucleotide
ATGACTGACTCAAAATATTTCACCACGACCAAGAAAGGGGAGATCTTCGAGCTGAAGGCAGAGCTCAACAGTGACAAGAAGGAGAAGAAGAAGGAGGCAGTGAAG
AAAGTGATTGCATCGATGACCGTGGGCAAAGATGTCAGTGCCCTCTTCCCCGATGTGGTCAACTGCATGCAGACGGACAACCTGGAGCTGAAGAAGCTAGTATAC
CTCTACTTGATGAATTACGCCAAGAGTCAGCCTGACATGGCCATTATGGCCGTCAACACCTTTGTGAAGGACTGTGAGGACCCCAACCCCCTCATCCGAGCCCTG
GCAGTGCGGACCATGGGCTGCATCCGCGTTGACAAGATCACAGAGTACCTGTGCGAGCCACTCCGGAAGTGCCTGAAGGACGAGGATCCATATGTGCGCAAGACA
GCAGCTGTGTGCGTGGCCAAGCTCCACGACATCAACGCCCAGCTGGTGGAGGACCAGGGCTTCCTGGACACCCTTAAAGACCTCATCTCCGACTCTAACCCCATG
GTGGTGGCCAATGCAGTGGCAGCGCTCTCAGAAATTGCCGAGTCTCACCCCAGCAGCAACCTGCTCGATCTGAACCCACAGTCCATCAACAAGCTGCTGACAGCC
CTCAATGAGTGCACCGAGTGGGGCCAGATCTTCATCCTGGACTGCCTCGCCAACTATATGCCCAAGGACGACCGCGAGGCCCAGAGCATCTGTGAGCGGGTCACC
CCCAGGCTCTCCCATGCCAACTCCGCTGTGGTGCTCTCTGCTGTGAAGGTGCTGATGAAGTTCATGGAGATGTTGTCTAAGGACTTGGACTACTACGGCACACTG
CTCAAGAAGCTGGCCCCACCCCTGGTCACACTGCTGTCAGCCGAGCCAGAGCTGCAGTATGTGGCCCTGCGCAACATCAATCTCATCGTGCAGAAAAGGCCTGAG
ATCCTGAAGCATGAGATGAAGGTGTTCTTCGTGAAGTACAACGACCCTATCTACGTGAAGCTGGAGAAGCTGGACATCATGATCCGCCTGGCCTCTCAGGCCAAC
ATCGCCCAGGTGTTGGCAGAGCTGAAAGAGTACGCAACAGAAGTGGATGTGGACTTTGTACGGAAGGCTGTGCGTGCTATTGGCCGCTGCGCCATCAAGGTGGAG
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>AP1B1|162|protein
MTDSKYFTTTKKGEIFELKAELNSDKKEKKKEAVKKVIASMTVGKDVSALFPDVVNCMQTDNLELKKLVYLYLMNYAKSQPDMAIMAVNTFVKDCEDPNPLIRAL
AVRTMGCIRVDKITEYLCEPLRKCLKDEDPYVRKTAAVCVAKLHDINAQLVEDQGFLDTLKDLISDSNPMVVANAVAALSEIAESHPSSNLLDLNPQSINKLLTA
LNECTEWGQIFILDCLANYMPKDDREAQSICERVTPRLSHANSAVVLSAVKVLMKFMEMLSKDLDYYGTLLKKLAPPLVTLLSAEPELQYVALRNINLIVQKRPE
ILKHEMKVFFVKYNDPIYVKLEKLDIMIRLASQANIAQVLAELKEYATEVDVDFVRKAVRAIGRCAIKVEQSAERCVSTLLDLIQTKVNYVVQEAIVVIKDIFRK
YPNKYESVIATLCENLDSLDEPEARAAMIWIVGEYAERIDNADELLESFLEGFHDESTQVQLQLLTAIVKLFLKKPTETQELVQQVLSLATQDSDNPDLRDRGYI
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top