AutismKB 2.0

Evidence Details for ARHGEF11


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Basic Information Top
Gene Symbol:ARHGEF11 ( DKFZp667F1223,GTRAP48,KIAA0380,PDZ-RHOGEF )
Gene Full Name: Rho guanine nucleotide exchange factor (GEF) 11
Band: 1q23.1
Quick LinksEntrez ID:9826; OMIM: 605708; Uniprot ID:ARHGB_HUMAN; ENSEMBL ID: ENSG00000132694; HGNC ID: 14580
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ARHGEF11|9826|nucleotide
ATGAGTGTAAGGTTACCCCAGAGTATAGACAGGTTAAGTAGCCTGTCTTCTCTGGGAGATTCTGCACCAGAGCGCAAGTCCCCTTCCCACCATCGCCAGCCTTCG
GATGCCTCTGAGACAACAGGTCTCGTTCAACGCTGTGTCATTATCCAAAAGGACCAGCATGGCTTCGGCTTCACAGTCAGTGGGGATCGCATTGTTCTGGTGCAG
TCTGTGCGGCCTGGAGGTGCAGCCATGAAGGCCGGTGTGAAAGAGGGCGACCGGATCATCAAAGTCAACGGCACCATGGTGACCAATAGCTCACACCTGGAAGTG
GTAAAGCTGATCAAATCTGGCGCCTATGTCGCACTCACCCTCCTGGGCTCTTCACCTTCATCCATGGGCATCTCTGGGCTCCAGCAGGACCCATCCCCAGCAGGA
GCTCCCCGAATCACGTCAGTGATCCCCTCACCACCACCTCCTCCACCTCTACCACCTCCACAACGCATCACAGGACCCAAACCTCTGCAGGATCCCGAAGTTCAA
AAACATGCCACCCAGATCCTCAGGAATATGCTGAGGCAGGAAGAAAAAGAATTACAGGACATACTTCCACTATATGGTGACACCAGCCAGAGACCATCAGAAGGC
CGGCTCTCTCTGGATTCCCAGGAGGGGGACAGTGGCTTGGACTCTGGGACAGAACGCTTTCCTTCCCTCAGTGAGTCATTGATGAATCGGAACTCGGTACTGTCA
GACCCTGGGCTAGACAGTCCTCGAACCTCCCCTGTGATCATGGCCAGGGTGGCCCAGCACCACAGGCGGCAGGGCTCGGATGCAGCAGTCCCCTCAACCGGTGAC
CAGGGTGTAGATCAAAGCCCAAAGCCTTTAATTATTGGCCCAGAGGAAGACTATGACCCGGGTTATTTCAACAACGAGAGCGACATCATATTCCAGGATCTGGAG
AAACTGAAGTCTCGGCCAGCTCACCTGGGGGTTTTTCTACGTTACATCTTCTCTCAGGCGGACCCCAGTCCACTGCTTTTTTACCTGTGTGCAGAAGTTTATCAG
CAGGCAAGCCCCAAGGATTCCCGAAGCTTGGGGAAAGACATCTGGAATATTTTCCTGGAGAAAAATGCGCCTCTGAGAGTGAAGATCCCTGAGATGCTACAGGCT
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>ARHGEF11|9826|protein
MSVRLPQSIDRLSSLSSLGDSAPERKSPSHHRQPSDASETTGLVQRCVIIQKDQHGFGFTVSGDRIVLVQSVRPGGAAMKAGVKEGDRIIKVNGTMVTNSSHLEV
VKLIKSGAYVALTLLGSSPSSMGISGLQQDPSPAGAPRITSVIPSPPPPPPLPPPQRITGPKPLQDPEVQKHATQILRNMLRQEEKELQDILPLYGDTSQRPSEG
RLSLDSQEGDSGLDSGTERFPSLSESLMNRNSVLSDPGLDSPRTSPVIMARVAQHHRRQGSDAAVPSTGDQGVDQSPKPLIIGPEEDYDPGYFNNESDIIFQDLE
KLKSRPAHLGVFLRYIFSQADPSPLLFYLCAEVYQQASPKDSRSLGKDIWNIFLEKNAPLRVKIPEMLQAEIDSRLRNSEDARGVLCEAQEAAMPEIQEQIHDYR
TKRTLGLGSLYGENDLLDLDGDPLRERQVAEKQLAALGDILSKYEEDRSAPMDFALNTYMSHAGIRLREARPSNTAEKAQSAPDKDKWLPFFPKTKKSSNSKKEK
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top