AutismKB 2.0

Evidence Details for ARHGEF17


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Basic Information Top
Gene Symbol:ARHGEF17 ( FLJ90019,KIAA0337,P164RHOGEF,TEM4,p164-RhoGEF )
Gene Full Name: Rho guanine nucleotide exchange factor (GEF) 17
Band: 11q13.4
Quick LinksEntrez ID:9828; OMIM: NA; Uniprot ID:ARHGH_HUMAN; ENSEMBL ID: ENSG00000110237; HGNC ID: 21726
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ARHGEF17|9828|nucleotide
ATGGCGGACGGGGCACCCCGGCCCCAGCTTTACCGCAGCGTCTCGTTCAAGCTGCTGGAGCGCTGGAGCGGCGGCCCCGGGCTGAGGGAGGAGGACACGGACACC
CCCGGCTTGAGGCGACGCGCCTCGTGCCGGCCGACCACGGCTGCCCGGGGCCAGCCCTCTCGGCGCGTGTCCAAGCTGGCGTCTGGGCCCCTGGCCGCCCCCGCG
CAGCCGCGCCCGCTCCGCAGCCTCTCGCCGTCGGTTCGCCAGCTCTCCCGGCGCTTCGACGCGCCGCGTCTGGACGACGGCTCCGCTGGGACCCGAGACGGAGGC
GTCTTACCCGCGGCCGCGGAAGAAGCGGCCGAGGGCCCAGCGCGAGGAGCCTGGCCCAGCGTCACCGAGATGCGCAAGCTCTTCGGCGGTCCTGGCTCCAGGAGG
CCCAGCGCCGACTCTGAATCCCCAGGAACGCCCAGCCCCGACGGTGCCGCGTGGGAGCCTCCGGCTCGGGAGTCGCGGCAGCCACCGACGCCACCCCCTCGGACA
TGCTTCCCCCTGGCGGGTCTGCGTTCGGCGCGGCCCCTGACCGGGCCGGAGACCGAAGGGAGGCTGCGCCGGCCGCAGCAGCAACAGGAGCGGGCGCAGCGTCCA
GCGGATGGTTTACATTCTTGGCATATCTTCTCCCAACCGCAGGCCGGGGCCCGGGCCTCCTGCTCCTCCTCCTCCATCGCCGCCTCCTATCCTGTCAGCCGCAGT
CGTGCTGCCAGCTCCAGCGAGGAGGAAGAGGAGGGCCCGCCGCAGCTGCCTGGAGCCCAGAGTCCGGCCTACCACGGCGGCCACTCCTCGGGCAGTGACGACGAC
CGAGACGGTGAGGGCGGCCACCGCTGGGGAGGGAGGCCCGGGCTCAGGCCTGGAAGCTCCCTATTGGATCAGGACTGCAGGCCTGACAGTGATGGGTTAAATCTA
AGCAGCATGAACTCAGCAGGGGTTTCTGGGAGCCCTGAGCCCCCAACATCTCCAAGAGCCCCTAGAGAAGAAGGACTCCGGGAGTGGGGTAGTGGCTCTCCGCCC
TGCGTCCCAGGTCCCCAGGAGGGACTTCGGCCTATGTCTGACTCTGTGGGAGGAGCTTTCCGTGTGGCCAAGGTGAGCTTTCCCTCGTACCTGGCCAGCCCCGCA
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>ARHGEF17|9828|protein
MADGAPRPQLYRSVSFKLLERWSGGPGLREEDTDTPGLRRRASCRPTTAARGQPSRRVSKLASGPLAAPAQPRPLRSLSPSVRQLSRRFDAPRLDDGSAGTRDGG
VLPAAAEEAAEGPARGAWPSVTEMRKLFGGPGSRRPSADSESPGTPSPDGAAWEPPARESRQPPTPPPRTCFPLAGLRSARPLTGPETEGRLRRPQQQQERAQRP
ADGLHSWHIFSQPQAGARASCSSSSIAASYPVSRSRAASSSEEEEEGPPQLPGAQSPAYHGGHSSGSDDDRDGEGGHRWGGRPGLRPGSSLLDQDCRPDSDGLNL
SSMNSAGVSGSPEPPTSPRAPREEGLREWGSGSPPCVPGPQEGLRPMSDSVGGAFRVAKVSFPSYLASPAGSRGSSRYSSTETLKDDDLWSSRGSGGWGVYRSPS
FGAGEGLLRSQARTRAKGPGGTSRALRDGGFEPEKSRQRKSLSNPDIASETLTLLSFLRSDLSELRVRKPGGSSGDRGSNPLDGRDSPSAGGPVGQLEPIPIPAP
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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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top