AutismKB 2.0

Evidence Details for PLEKHA4


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Basic Information Top
Gene Symbol:PLEKHA4 ( PEPP1 )
Gene Full Name: pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4
Band: 19q13.33
Quick LinksEntrez ID:57664; OMIM: 607769; Uniprot ID:PKHA4_HUMAN; ENSEMBL ID: ENSG00000105559; HGNC ID: 14339
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PLEKHA4|57664|nucleotide
ATGGAGGGGAGCCGACCTCGCAGCAGCCTGAGCCTGGCCAGCAGCGCCTCCACCATCTCCTCGCTCAGCAGCCTGAGCCCCAAGAAGCCCACCCGGGCAGTAAAC
AAGATCCACGCCTTTGGGAAGAGAGGCAATGCGCTCAGGAGGGATCCCAACCTTCCCGTGCACATCCGAGGCTGGCTTCATAAGCAGGACAGCTCGGGGCTCCGT
CTCTGGAAACGCCGCTGGTTCGTCCTCTCCGGCCATTGCCTCTTTTATTACAAGGACAGCCGCGAGGAGAGTGTCCTAGGCAGCGTCCTGCTCCCCAGCTACAAT
ATTAGACCAGATGGGCCGGGAGCCCCCCGAGGGCGGCGCTTCACCTTCACCGCAGAGCACCCGGGCATGAGGACCTACGTTTTGGCCGCTGACACCTTAGAAGAC
CTGCGGGGCTGGCTACGGGCGCTGGGCCGGGCCTCCCGTGCGGAGGGGGACGACTATGGGCAACCCAGGTCACCTGCACGACCCCAGCCCGGGGAGGGCCCCGGC
GGCCCCGGTGGTCCCCCGGAGGTGAGCAGAGGGGAAGAGGGGCGCATCTCAGAATCACCGGAAGTGACTCGACTCTCCAGAGGTCGTGGTAGACCCAGGCTGCTC
ACTCCCAGCCCCACAACCGACCTCCACTCTGGACTCCAGATGCGGAGGGCGAGGAGCCCCGACCTGTTCACCCCCCTCTCTCGCCCTCCCTCGCCTCTGAGCCTC
CCCCGTCCCCGTTCTGCCCCTGCGCGGCGACCCCCTGCCCCCTCAGGAGACACAGCACCCCCTGCCCGACCTCACACCCCGTTGAGTCGCATTGATGTCCGACCT
CCTCTGGATTGGGGCCCCCAACGCCAGACCCTCTCCCGACCCCCTACTCCCCGCCGAGGACCTCCCTCTGAGGCTGGGGGAGGAAAGCCCCCCAGGAGTCCCCAG
CACTGGAGTCAGGAGCCCAGAACACAGCCGGGTCCTCCCCTGGAGTCAACTTTCCACCAAAGCTTGGAGACAGATACGCTGCTGACCAAGTTGTGCGGGCAGGAC
CGGCTTCTGCGGAGGCTGCAGGAGGAGATAGACCAGAAGCAGGAGGAGAAGGAGCAACTAGAAGCAGCTCTGGAGTTGACCCGGCAACAGCTGGGCCAAGCCACC
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>PLEKHA4|57664|protein
MEGSRPRSSLSLASSASTISSLSSLSPKKPTRAVNKIHAFGKRGNALRRDPNLPVHIRGWLHKQDSSGLRLWKRRWFVLSGHCLFYYKDSREESVLGSVLLPSYN
IRPDGPGAPRGRRFTFTAEHPGMRTYVLAADTLEDLRGWLRALGRASRAEGDDYGQPRSPARPQPGEGPGGPGGPPEVSRGEEGRISESPEVTRLSRGRGRPRLL
TPSPTTDLHSGLQMRRARSPDLFTPLSRPPSPLSLPRPRSAPARRPPAPSGDTAPPARPHTPLSRIDVRPPLDWGPQRQTLSRPPTPRRGPPSEAGGGKPPRSPQ
HWSQEPRTQPGPPLESTFHQSLETDTLLTKLCGQDRLLRRLQEEIDQKQEEKEQLEAALELTRQQLGQATREAGAPGRAWGRQRLLQDRLVSVRATLCHLTQERE
RVWDTYSGLEQELGTLRETLEYLLHLGSPQDRVSAQQQLWMVEDTLAGLGGPQKPPPHTEPDSPSPVLQGEESSERESLPESLELSSPRSPETDWGRPPGGDKDL
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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) 1 (1) 0 (0) 0 (0) 0 (2) 0 (1) 0 (0) 0 (0) 2 (5)
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