AutismKB 2.0

Evidence Details for ARHGEF1


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Basic Information Top
Gene Symbol:ARHGEF1 ( GEF1,LBCL2,LSC,P115-RHOGEF,SUB1.5 )
Gene Full Name: Rho guanine nucleotide exchange factor (GEF) 1
Band: 19q13.2
Quick LinksEntrez ID:9138; OMIM: 601855; Uniprot ID:ARHG1_HUMAN; ENSEMBL ID: ENSG00000076928; HGNC ID: 681
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ARHGEF1|9138|nucleotide
ATGGAAGACTTCGCCCGAGGGGCGGCCTCCCCAGGCCCCTCCCGGCCTGGCCTGGTTCCCGTCAGCATCATCGGGGCTGAGGATGAGGATTTTGAGAACGAGCTG
GAGACAAACTCAGAAGAGCAAAACAGCCAGTTCCAGAGCCTGGAGCAGGTGAAGCGGCGCCCAGCCCACCTCATGGCCCTCCTGCAGCACGTGGCCCTGCAGTTT
GAGCCAGGACCCCTGCTTTGCTGTCTGCATGCCGACATGCTGGGCTCACTGGGCCCCAAGGAGGCCAAGAAGGCCTTCCTGGACTTCTACCACAGCTTCCTGGAG
AAGACAGCGGTTCTCCGGGTGCCGGTCCCTCCCAACGTCGCCTTTGAACTTGACCGCACTAGGGCTGACCTCATCTCCGAGGATGTCCAGCGGCGGTTCGTGCAG
GAGGTGGTGCAAAGCCAGCAGGTAGCCGTGGGCCGGCAGCTGGAGGACTTCCGTTCCAAGCGGCTCATGGGCATGACGCCCTGGGAGCAGGAGCTGGCCCAGCTG
GAGGCTTGGGTTGGGCGGGACCGAGCCAGCTACGAGGCCCGGGAGCGGCACGTGGCGGAGCGGCTGCTCATGCACCTGGAGGAGATGCAACATACCATCTCTACC
GACGAAGAAAAGAGTGCTGCCGTGGTCAACGCCATTGGCCTGTACATGCGCCACCTTGGGGTGCGGACCAAGAGTGGAGACAAGAAGTCGGGGAGGAACTTCTTC
CGGAAAAAGGTGATGGGGAACCGGCGGTCGGACGAGCCTGCCAAGACCAAGAAGGGGCTGAGCAGCATCCTGGATGCCGCCCGCTGGAACCGGGGAGAGCCCCAG
GTTCCAGATTTTCGACACCTCAAAGCAGAGGTTGATGCCGAGAAGCCAGGTGCTACAGACCGGAAGGGAGGCGTGGGGATGCCCTCTCGGGACCGGAATATCGGG
GCTCCTGGGCAGGACACCCCTGGAGTCTCTCTGCACCCTCTGTCCCTGGACAGCCCAGACCGGGAACCAGGTGCTGACGCCCCCCTGGAGCTGGGGGACTCATCC
CCGCAGGGCCCAATGAGCCTGGAGTCCTTGGCGCCCCCAGAGAGTACCGACGAGGGGGCCGAAACCGAGAGCCCCGAGCCTGGAGATGAGGGGGAGCCGGGGCGG
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>ARHGEF1|9138|protein
MEDFARGAASPGPSRPGLVPVSIIGAEDEDFENELETNSEEQNSQFQSLEQVKRRPAHLMALLQHVALQFEPGPLLCCLHADMLGSLGPKEAKKAFLDFYHSFLE
KTAVLRVPVPPNVAFELDRTRADLISEDVQRRFVQEVVQSQQVAVGRQLEDFRSKRLMGMTPWEQELAQLEAWVGRDRASYEARERHVAERLLMHLEEMQHTIST
DEEKSAAVVNAIGLYMRHLGVRTKSGDKKSGRNFFRKKVMGNRRSDEPAKTKKGLSSILDAARWNRGEPQVPDFRHLKAEVDAEKPGATDRKGGVGMPSRDRNIG
APGQDTPGVSLHPLSLDSPDREPGADAPLELGDSSPQGPMSLESLAPPESTDEGAETESPEPGDEGEPGRSGLELEPEEPPGWRELVPPDTLHSLPKSQVKRQEV
ISELLVTEAAHVRMLRVLHDLFFQPMAECLFFPLEELQNIFPSLDELIEVHSLFLDRLMKRRQESGYLIEEIGDVLLARFDGAEGSWFQKISSRFCSRQSFALEQ
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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) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 3 (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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top