AutismKB 2.0

Evidence Details for PLEKHG2


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Basic Information Top
Gene Symbol:PLEKHG2 ( ARHGEF42,CLG,DKFZp667J2325,FLJ00018,FLJ22458,FLJ38638 )
Gene Full Name: pleckstrin homology domain containing, family G (with RhoGef domain) member 2
Band: 19q13.2
Quick LinksEntrez ID:64857; OMIM: 611893; Uniprot ID:PKHG2_HUMAN; ENSEMBL ID: ENSG00000090924; HGNC ID: 29515
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PLEKHG2|64857|nucleotide
ATGCCTGAGGGAGCCCAAGGACTGAGCCTCTCCAAACCTAGCCCAAGCCTCGGGTGTGGCCGAAGAGGTGAAGTGTGTGACTGTGGCACCGTGTGTGAGACTCGG
ACAGCTCCTGCAGCCCCCACCATGGCCTCCCCCCGAGGTTCTGGGAGCTCCACATCCCTGAGCACAGTGGGCTCTGAGGGGGATCCAGCCCCTGGGCCCACTCCA
GCCTGCTCAGCCTCCAGGCCAGAGCCCCTTCCAGGGCCTCCCATCCGCCTACATCTCTCTCCGGTGGGGATCCCAGGTTCAGCCAGACCCTCAAGGCTGGAGCGT
GTGGCCCGGGAGATCGTGGAGACAGAACGGGCCTATGTCAGGGACCTCCGCAGCATCGTGGAGGACTACCTGGGCCCTCTGCTGGACGGCGGGGTCCTGGGGCTG
AGCGTGGAGCAGGTGGGCACGCTGTTTGCCAACATTGAGGACATCTACGAGTTCAGCAGCGAGCTCCTGGAGGACTTGGAGAACAGCAGCAGCGCCGGGGGTATT
GCCGAGTGCTTCGTGCAGAGGAGCGAGGATTTTGACATCTACACATTGTACTGCATGAACTACCCGAGCTCCCTGGCCCTGCTCCGGGAGCTGTCGTTGTCTCCG
CCAGCAGCCCTGTGGCTGCAGGAGCGCCAGGCCCAGCTTCGCCACTCGCTGCCCCTGCAGAGCTTCCTGCTGAAACCTGTCCAGCGCATTCTCAAGTACCATCTG
CTGCTGCAGGAACTAGGGAAGCACTGGGCGGAGGGCCCAGGCACTGGGGGTCGCGAGATGGTGGAGGAAGCTATTGTGTCCATGACAGCGGTTGCCTGGTACATC
AACGACATGAAGCGCAAGCAGGAGCATGCAGCGCGCCTCCAGGAAGTGCAGCGGCGGCTGGGTGGCTGGACCGGACCAGAGCTCAGTGCTTTTGGGGAACTGGTG
TTGGAGGGCGCGTTCCGAGGAGGCGGAGGGGGTGGCCCCCGGCTACGAGGGGGTGAGCGGCTGCTCTTCCTGTTCTCTCGGATGCTGCTGGTGGCCAAGCGCAGG
GGGCTGGAGTACACCTACAAAGGCCACATCTTCTGCTGCAACCTGAGCGTGAGCGAGAGTCCCCGAGACCCTCTAGGGTTCAAGGTGTCTGATCTGACCATTCCC
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>PLEKHG2|64857|protein
MPEGAQGLSLSKPSPSLGCGRRGEVCDCGTVCETRTAPAAPTMASPRGSGSSTSLSTVGSEGDPAPGPTPACSASRPEPLPGPPIRLHLSPVGIPGSARPSRLER
VAREIVETERAYVRDLRSIVEDYLGPLLDGGVLGLSVEQVGTLFANIEDIYEFSSELLEDLENSSSAGGIAECFVQRSEDFDIYTLYCMNYPSSLALLRELSLSP
PAALWLQERQAQLRHSLPLQSFLLKPVQRILKYHLLLQELGKHWAEGPGTGGREMVEEAIVSMTAVAWYINDMKRKQEHAARLQEVQRRLGGWTGPELSAFGELV
LEGAFRGGGGGGPRLRGGERLLFLFSRMLLVAKRRGLEYTYKGHIFCCNLSVSESPRDPLGFKVSDLTIPKHRHLLQAKNQEEKRLWIHCLQRLFFENHPASIPA
KAKQVLLENSLHCAPKSKPVLEPLTPPLGSPRPRDARSFTPGRRNTAPSPGPSVIRRGRRQSEPVKDPYVMFPQNAKPGFKHAGSEGELYPPESQPPVSGSAPPE
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (2)
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
Linkage Studies Top