AutismKB 2.0

Evidence Details for PLEKHA2


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Basic Information Top
Gene Symbol:PLEKHA2 ( FLJ25921,TAPP2 )
Gene Full Name: pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2
Band: 8p11.22
Quick LinksEntrez ID:59339; OMIM: 607773; Uniprot ID:PKHA2_HUMAN; ENSEMBL ID: ENSG00000169499; HGNC ID: 14336
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PLEKHA2|59339|nucleotide
ATGCCTTATGTGGATCGGCAGAACCGAATCTGTGGGTTTCTGGACATCGAGGAGCATGAGAACAGCGGCAAGTTTCTGCGGAGGTACTTCATTCTGGACACCCAG
GCTAACTGCCTCCTCTGGTATATGGACAACCCCCAGAATCTGGCAATGGGGGCAGGAGCTGTTGGAGCTTTGCAGCTGACCTACATCTCGAAGGTGAGCATAGCT
ACCCCAAAACAGAAACCAAAAACTCCATTTTGCTTTGTTATCAATGCCCTGTCTCAGAGATATTTCCTTCAAGCCAATGATCAGAAAGATATGAAGGACTGGGTT
GAAGCCCTGAACCAAGCCAGCAAGATCACCGTTCCCAAAGGTGGGGGCCTACCCATGACCACTGAAGTTCTCAAGAGCTTAGCAGCTCCTCCAGCCCTGGAGAAG
AAGCCACAGGTGGCCTACAAGACGGAGATCATTGGAGGGGTGGTGGTCCACACACCCATCAGCCAGAACGGTGGGGATGGGCAGGAAGGGAGTGAGCCCGGGTCC
CACACCATCCTTCGAAGGTCTCAGAGTTACATCCCCACGTCAGGCTGCCGTGCTTCCACTGGGCCTCCCCTCATTAAGAGTGGTTACTGCGTGAAGCAAGGGAAT
GTGCGGAAGAGCTGGAAACGTCGCTTCTTTGCACTTGATGACTTTACCATCTGCTACTTCAAGTGTGAGCAGGACCGAGAACCACTGCGCACCATATTTCTTAAG
GATGTTCTGAAGACCCATGAATGTCTGGTCAAGTCTGGTGATCTCTTAATGAGGGACAACCTGTTTGAAATAATAACAAGCTCCAGGACCTTCTACGTACAGGCA
GACAGTCCAGAAGACATGCACAGCTGGATTAAGGAGATTGGCGCAGCTGTCCAGGCCCTCAAGTGCCACCCCAGAGAAACGTCCTTTTCTAGATCCATTTCTTTG
ACCCGACCTGGAAGCTCCAGCCTTTCAAGTGGGCCCAACTCTATCCTGTGCAGGGGGCGGCCACCTTTGGAGGAAAAGAAAGCCCTCTGCAAAGCCCCCTCTGTG
GCCTCCTCCTGGCAGCCCTGGACACCTGTCCCCCAGGCTGGGGAGAAGCTGCTTCCACCTGGAGACACTTCAGAGGACTCCTTGTTCACGCCTCGTCCTGGGGAG
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>PLEKHA2|59339|protein
MPYVDRQNRICGFLDIEEHENSGKFLRRYFILDTQANCLLWYMDNPQNLAMGAGAVGALQLTYISKVSIATPKQKPKTPFCFVINALSQRYFLQANDQKDMKDWV
EALNQASKITVPKGGGLPMTTEVLKSLAAPPALEKKPQVAYKTEIIGGVVVHTPISQNGGDGQEGSEPGSHTILRRSQSYIPTSGCRASTGPPLIKSGYCVKQGN
VRKSWKRRFFALDDFTICYFKCEQDREPLRTIFLKDVLKTHECLVKSGDLLMRDNLFEIITSSRTFYVQADSPEDMHSWIKEIGAAVQALKCHPRETSFSRSISL
TRPGSSSLSSGPNSILCRGRPPLEEKKALCKAPSVASSWQPWTPVPQAGEKLLPPGDTSEDSLFTPRPGEGSAPGVLPSSRIRHRSEPQHPKEKPFMFNLDDENI
RTSDV
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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