AutismKB 2.0

Evidence Details for PLEKHG4


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Basic Information Top
Gene Symbol:PLEKHG4 ( ARHGEF44,DKFZp434I216,PRTPHN1,SCA4 )
Gene Full Name: pleckstrin homology domain containing, family G (with RhoGef domain) member 4
Band: 16q22.1
Quick LinksEntrez ID:25894; OMIM: 609526; Uniprot ID:PKHG4_HUMAN; ENSEMBL ID: ENSG00000196155; HGNC ID: 24501
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PLEKHG4|25894|nucleotide
ATGGAAAGGCCCCTGGAGAATGGGGATGAGTCCCCAGACTCTCAGGGCCATGCCACCGACTGGAGATTTGCTGTGTGCAGTTTCAGGGATGCCTGGGAAGAGGAG
GAACCTGCTTCCCAGATGCACGTTAAGGACCCAGGTCCTCCAAGACCACCAGCCGGGGCCACCCAGGATGAGGAGCTACAGGGCAGCCCCTTGTCCAGGAAATTC
CAGTTACCCCCAGCTGCAGATGAGTCGGGGGATGCCCAGAGGGGCACAGTAGAAAGCTCCTCAGTCCTGTCAGAAGGGCCAGGCCCCTCTGGAGTGGAGAGTCTC
CTATGCCCCATGTCCTCCCACCTCAGCTTGGCACAGGGTGAGAGTGACACCCCAGGGGTAGGGTTGGTAGGGGACCCAGGTCCAAGCAGGGCGATGCCATCTGGC
TTGAGCCCTGGGGCATTGGACAGCGACCCTGTGGGCCTTGGAGACCCTTTATCAGAAATATCAAAGCTGCTGGAGGCAGCCCCCAGTGGATCCGGCCTCCCTAAG
CCTGCTGACTGCCTCCTGGCCCAAGACCTCTGTTGGGAGCTGCTGGCCAGTGGTATGGCCACCTTGCCAGGGACTCGGGATGTCCAAGGCCGGGCAGTGCTGCTT
CTGTGTGCCCACAGCCCAGCCTGGCTTCAGTCTGAGTGCAGCAGCCAGGAACTCATCCGCCTCCTGCTGTACCTGCGAAGCATCCCCAGGCCCGAAGTACAGGCA
CTGGGACTGACAGTGCTAGTTGATGCCCGAATTTGTGCTCCAAGTTCTTCCCTCTTCTCTGGGCTCAGCCAACTACAAGAAGCAGCCCCAGGGGCCGTGTACCAG
GTGCTGCTAGTGGGAAGCACGCTGCTGAAGGAAGTGCCTTCCGGGCTGCAGCTGGAGCAGTTGCCTTCTCAGAGCCTGCTGACCCACATCCCAACGGCGGGGCTG
CCCACTTCGCTAGGAGGAGGCCTGCCTTACTGCCACCAGGCCTGGCTGGATTTCCGAAGGCGGCTGGAAGCTCTACTACAGAACTGCCAGGCAGCTTGTGCCCTG
CTCCAGGGGGCCATCGAAAGTGTGAAGGCTGTGCCCCAGCCCATGGAGCCTGGGGAGGTCGGTCAGCTGCTACAGCAGACAGAGGTCCTGATGCAGCAGGTGCTA
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>PLEKHG4|25894|protein
MERPLENGDESPDSQGHATDWRFAVCSFRDAWEEEEPASQMHVKDPGPPRPPAGATQDEELQGSPLSRKFQLPPAADESGDAQRGTVESSSVLSEGPGPSGVESL
LCPMSSHLSLAQGESDTPGVGLVGDPGPSRAMPSGLSPGALDSDPVGLGDPLSEISKLLEAAPSGSGLPKPADCLLAQDLCWELLASGMATLPGTRDVQGRAVLL
LCAHSPAWLQSECSSQELIRLLLYLRSIPRPEVQALGLTVLVDARICAPSSSLFSGLSQLQEAAPGAVYQVLLVGSTLLKEVPSGLQLEQLPSQSLLTHIPTAGL
PTSLGGGLPYCHQAWLDFRRRLEALLQNCQAACALLQGAIESVKAVPQPMEPGEVGQLLQQTEVLMQQVLDSPWLAWLQCQGGRELTWLKQEVPEVTLSPDYRTA
MDKADELYDRVDGLLHQLTLQSNQRIQALELVQTLEARESGLHQIEVWLQQVGWPALEEAGEPSLDMLLQAQGSFQELYQVAQEQVRQGEKFLQPLTGWEAAELD
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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top