AutismKB 2.0

Evidence Details for PLEKHA5


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Basic Information Top
Gene Symbol:PLEKHA5 ( FLJ10667,FLJ26734,FLJ31492,KIAA1686,PEPP-2,PEPP2 )
Gene Full Name: pleckstrin homology domain containing, family A member 5
Band: 12p12.3
Quick LinksEntrez ID:54477; OMIM: 607770; Uniprot ID:PKHA5_HUMAN; ENSEMBL ID: ENSG00000052126; HGNC ID: 30036
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PLEKHA5|54477|nucleotide
ATGGCGGCGGATCTGAACCTGGAGTGGATCTCCCTGCCCCGGTCCTGGACTTACGGGATCACCAGGGGCGGCCGAGTCTTCTTCATCAACGAGGAGGCCAAGAGC
ACCACCTGGCTGCACCCCGTCACCGGCGAGGCGGTGGTCACCGGACACCGGCGGCAGAGCACAGATTTGCCTACTGGCTGGGAAGAAGCATATACTTTTGAAGGT
GCAAGATACTATATAAACCATAATGAAAGGAAAGTGACCTGCAAACATCCAGTCACAGGACAACCATCACAGGACAATTGTATTTTTGTAGTGAATGAACAGACT
GTTGCAACCATGACATCTGAAGAAAAGAAGGAACGGCCAATAAGTATGATAAATGAAGCTTCTAACTATAACGTGACTTCAGATTATGCAGTGCATCCAATGAGC
CCTGTAGGCAGAACTTCACGAGCTTCAAAAAAAGTTCATAATTTTGGAAAGAGGTCAAATTCAATTAAAAGGAATCCTAATGCACCGGTTGTCAGACGAGGTTGG
CTTTATAAACAGGACAGTACTGGCATGAAATTGTGGAAGAAACGCTGGTTTGTGCTTTCTGACCTTTGCCTCTTTTATTATAGAGATGAGAAAGAAGAGGGTATC
CTGGGAAGCATACTGTTACCTAGTTTTCAGATAGCTTTGCTTACCTCTGAAGATCACATTAATCGCAAATATGCTTTTAAGGCAGCCCATCCAAACATGCGGACC
TATTATTTCTGCACTGATACAGGAAAGGAAATGGAGTTGTGGATGAAAGCCATGTTAGATGCTGCCCTAGTACAGACAGAACCTGTGAAAAGAGTGGACAAGATT
ACATCTGAAAATGCACCAACTAAAGAAACCAATAACATTCCCAACCATAGAGTGCTAATTAAACCAGAGATCCAAAACAATCAAAAAAACAAGGAAATGAGCAAA
ATTGAAGAAAAAAAGGCATTAGAAGCTGAAAAATATGGATTTCAGAAGGATGGTCAAGATAGACCCTTAACAAAAATTAATAGTGTAAAGCTGAATTCTCTGCCA
TCTGAATATGAGAGTGGGTCAGCATGCCCTGCTCAGACTGTGCACTACAGACCAATCAACTTGAGCAGTTCAGAGAACAAAATAGTCAATGTTAGCCTGGCAGAT
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>PLEKHA5|54477|protein
MAADLNLEWISLPRSWTYGITRGGRVFFINEEAKSTTWLHPVTGEAVVTGHRRQSTDLPTGWEEAYTFEGARYYINHNERKVTCKHPVTGQPSQDNCIFVVNEQT
VATMTSEEKKERPISMINEASNYNVTSDYAVHPMSPVGRTSRASKKVHNFGKRSNSIKRNPNAPVVRRGWLYKQDSTGMKLWKKRWFVLSDLCLFYYRDEKEEGI
LGSILLPSFQIALLTSEDHINRKYAFKAAHPNMRTYYFCTDTGKEMELWMKAMLDAALVQTEPVKRVDKITSENAPTKETNNIPNHRVLIKPEIQNNQKNKEMSK
IEEKKALEAEKYGFQKDGQDRPLTKINSVKLNSLPSEYESGSACPAQTVHYRPINLSSSENKIVNVSLADLRGGNRPNTGPLYTEADRVIQRTNSMQQLEQWIKI
QKGRGHEEETRGVISYQTLPRNMPSHRAQIMARYPEGYRTLPRNSKTRPESICSVTPSTHDKTLGPGAEEKRRSMRDDTMWQLYEWQQRQFYNKQSTLPRHSTLS
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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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (3)
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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top