AutismKB 2.0

Evidence Details for PLEKHN1


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Basic Information Top
Gene Symbol:PLEKHN1 ( DKFZp434H2010,MGC120613,MGC120616,RP11-54O7.7 )
Gene Full Name: pleckstrin homology domain containing, family N member 1
Band: 1p36.33
Quick LinksEntrez ID:84069; OMIM: NA; Uniprot ID:PKHN1_HUMAN; ENSEMBL ID: ENSG00000187583; HGNC ID: 25284
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PLEKHN1|84069|nucleotide
ATGGGGAACAGCCACTGTGTCCCTCAGGCCCCCAGGAGGCTCCGGGCCTCCTTCTCCAGAAAGCCCTCGCTGAAGGGAAACAGAGAGGACAGCGCGCGGATGTCG
GCCGGCCTGCCGGGCCCCGAGGCTGCTCGAAGCGGGGACGCCGCCGCCAACAAGCTCTTCCACTACATCCCGGGCACGGACATCCTGGACCTGGAGAACCAGCGA
GAAAACCTGGAGCAGCCATTCCTGAGTGTGTTCAAGAAGGGGCGGCGGAGGGTGCCTGTGAGGAACCTGGGAAAAGTTGTGCATTACGCCAAGGTCCAGCTGCGG
TTCCAGCACAGCCAGGATGTCAGCGACTGCTACCTGGAGCTATTCCCCGCCCACCTGTACTTCCAGGCCCACGGCTCGGAAGGACTCACATTTCAGGGGCTGTTA
CCGCTGACGGAGCTGAGTGTCTGCCCGCTCGAGGGGTCCCGAGAGCACGCCTTCCAGATCACAGGCCCACTGCCCGCACCCCTCCTGGTGCTCTGCCCCAGCCGG
GCCGAGCTGGACCGCTGGCTTTACCACCTGGAGAAGCAGACGGCCCTCCTCGGGGGGCCGCGGCGCTGCCACTCGGCACCCCCACAGGGGTCCTGCGGAGACGAA
CTCCCCTGGACTTTGCAGCGCCGTCTAACCCGGCTGCGGACGGCGTCAGGGCACGAACCCGGCGGCAGTGCTGTCTGTGCCTCGAGGGTCAAGCTGCAGCACCTG
CCCGCACAGGAGCAGTGGGACCGGCTCTTGGTCCTGTACCCAACGTCCTTGGCCATTTTCTCCGAGGAGCTGGACGGGCTTTGCTTCAAGGGGGAGCTCCCACTC
CGTGCCGTCCACATCAACCTGGAGGAGAAGGAGAAGCAGATCCGCTCCTTCCTGATTGAAGGCCCCCTCATCAACACCATCCGCGTGGTGTGCGCCAGCTACGAG
GACTACGGTCACTGGCTGCTGTGCCTTCGCGCTGTCACCCACAGGGAGGGGGCCCCGCCGCTGCCTGGTGCCGAGAGCTTCCCAGGGTCGCAGGTTATGGGCAGT
GGCCGAGGCTCACTCTCCTCAGGCGGACAGACCAGCTGGGACTCGGGGTGCTTGGCGCCCCCCTCCACCCGCACCAGCCACTCCCTGCCTGAGTCCTCAGTGCCA
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>PLEKHN1|84069|protein
MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLR
FQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDE
LPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYE
DYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPL
YADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSP
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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) 1 (4) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top