AutismKB 2.0

Evidence Details for PLEKHA6


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Basic Information Top
Gene Symbol:PLEKHA6 ( KIAA0969,MGC176733,PEPP3 )
Gene Full Name: pleckstrin homology domain containing, family A member 6
Band: 1q32.1
Quick LinksEntrez ID:22874; OMIM: 607771; Uniprot ID:PKHA6_HUMAN; ENSEMBL ID: ENSG00000143850; HGNC ID: 17053
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PLEKHA6|22874|nucleotide
ATGTCCAATAAAACAGGTGGGAAACGCCCGGCTACCACCAACAGTGACATACCCAACCACAACATGGTGTCCGAGGTCCCTCCAGAGCGGCCCAGCGTCCGGGCA
ACTCGCACAGCCCGCAAAGCCGTCGCCTTTGGCAAGCGCTCACACTCCATGAAGCGGAACCCCAATGCACCTGTCACCAAGGCGGGCTGGCTCTTCAAACAGGCC
AGCTCCGGGGTTAAGCAGTGGAACAAGCGCTGGTTCGTCCTGGTGGATCGCTGCCTCTTCTACTATAAAGATGAGAAGGAAGAGAGTATCCTGGGCAGCATCCCC
CTCCTGAGCTTCCGGGTAGCCGCAGTGCAGCCCTCAGACAACATCAGCCGGAAACACACGTTTAAGGCTGAGCATGCCGGGGTCCGCACCTACTTCTTCAGTGCC
GAGAGCCCCGAGGAGCAAGAGGCCTGGATCCAGGCCATGGGGGAGGCTGCTCGAGTACAGATCCCTCCAGCCCAGAAGTCAGTGCCCCAAGCTGTGCGGCACAGC
CATGAGAAGCCAGACTCGGAGAACGTCCCACCCAGCAAGCACCACCAGCAGCCACCCCACAACAGCCTCCCTAAGCCTGAGCCAGAGGCCAAGACTCGAGGGGAG
GGTGATGGCCGAGGCTGTGAGAAGGCAGAGAGAAGGCCTGAGAGGCCAGAAGTCAAGAAAGAGCCTCCGGTGAAAGCCAATGGCCTCCCAGCTGGACCGGAGCCA
GCCTCAGAGCCGGGCAGCCCTTACCCCGAGGGCCCAAGAGTGCCAGGGGGTGGGGAACAGCCTGCCCAGCCCAATGGCTGGCAGTACCACTCCCCAAGCCGGCCA
GGGAGCACAGCTTTCCCGTCTCAGGATGGAGAGACTGGGGGACACCGGCGGAGTTTCCCACCACGCACCAACCCTGACAAAATTGCCCAGCGCAAGAGCTCCATG
AACCAGCTTCAGCAGTGGGTGAATCTGCGCCGGGGGGTACCCCCGCCTGAAGACCTTCGGAGTCCCTCTAGGTTCTATCCTGTGTCTCGCAGGGTCCCTGAGTAC
TATGGCCCCTACTCCTCCCAGTACCCCGATGATTATCAGTACTACCCGCCAGGAGTGCGGCCGGAGAGCATCTGTTCCATGCCGGCCTATGATCGGATCAGCCCG
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>PLEKHA6|22874|protein
MSNKTGGKRPATTNSDIPNHNMVSEVPPERPSVRATRTARKAVAFGKRSHSMKRNPNAPVTKAGWLFKQASSGVKQWNKRWFVLVDRCLFYYKDEKEESILGSIP
LLSFRVAAVQPSDNISRKHTFKAEHAGVRTYFFSAESPEEQEAWIQAMGEAARVQIPPAQKSVPQAVRHSHEKPDSENVPPSKHHQQPPHNSLPKPEPEAKTRGE
GDGRGCEKAERRPERPEVKKEPPVKANGLPAGPEPASEPGSPYPEGPRVPGGGEQPAQPNGWQYHSPSRPGSTAFPSQDGETGGHRRSFPPRTNPDKIAQRKSSM
NQLQQWVNLRRGVPPPEDLRSPSRFYPVSRRVPEYYGPYSSQYPDDYQYYPPGVRPESICSMPAYDRISPPWALEDKRHAFRNGGGPAYQLREWKEPASYGRQDA
TVWIPSPSRQPVYYDELDAASSSLRRLSLQPRSHSVPRSPSQGSYSRARIYSPVRSPSARFERLPPRSEDIYADPAAYVMRRSISSPKVPPYPEVFRDSLHTYKL
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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) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 1 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top