AutismKB 2.0

Evidence Details for ARHGAP42


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Basic Information Top
Gene Symbol:ARHGAP42 ( FLJ32810,GRAF3,KIAA0621 )
Gene Full Name: Rho GTPase activating protein 42
Band: 11q22.1
Quick LinksEntrez ID:143872; OMIM: NA; Uniprot ID:RHG42_HUMAN; ENSEMBL ID: ENSG00000165895; HGNC ID: 26545
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ARHGAP42|143872|nucleotide
ATGGGGCTGCCCACTCTGGAGTTCAGCGATTCCTACTTGGACAGCCCAGATTTCAGGGAGCGCTTGCAGTGTCACGAGATTGAGCTGGAGCGAACCAACAAGTTC
ATCAAGGAGCTCATTAAGGACGGCTCTCTGCTCATTGGGGCGTTGAGGAATCTGTCTATGGCAGTGCAGAAATTTTCCCAGTCATTGCAAGATTTCCAGTTTGAA
TGTATTGGTGATGCTGAAACAGATGATGAAATTAGTATTGCTCAGTCACTAAAAGAATTTGCAAGACTACTCATTGCAGTAGAAGAAGAAAGGCGAAGACTGATC
CAAAACGCTAACGATGTATTAATTGCACCACTTGAGAAATTTCGAAAAGAACAGATAGGTGCAGCAAAAGATGGAAAGAAGAAGTTTGACAAAGAGAGTGAAAAA
TATTACTCTATCCTTGAAAAGCATTTAAATTTGTCCGCAAAGAAAAAGGAGTCTCATTTACAAGAGGCAGATACACAAATTGACCGAGAACATCAGAACTTCTAT
GAAGCATCATTAGAATATGTCTTTAAAATTCAAGAGGTCCAAGAAAAAAAGAAGTTTGAATTTGTTGAACCGCTTTTGTCATTTCTTCAGGGCTTATTTACTTTT
TACCATGAGGGATATGAACTTGCCCAGGAATTTGCACCGTATAAGCAACAGCTGCAGTTCAACTTGCAGAATACAAGGAATAATTTTGAAAGTACTCGACAAGAG
GTAGAGCGGTTGATGCAAAGGATGAAATCTGCTAACCAGGACTACAGACCACCCAGCCAGTGGACGATGGAAGGCTATCTGTATGTCCAGGAGAAACGACCGCTT
GGTTTTACATGGATTAAACATTATTGTACATATGATAAGGGAAGTAAAACATTTACAATGAGTGTTTCAGAAATGAAATCCAGTGGGAAAATGAATGGCCTTGTT
ACTAGCTCACCGGAAATGTTTAAATTAAAATCTTGTATCCGACGAAAGACAGATTCAATTGACAAACGATTCTGCTTTGACATAGAAGTAGTTGAAAGGCATGGG
ATCATCACGTTACAGGCCTTCTCAGAAGCTAATAGGAAACTCTGGCTTGAAGCCATGGATGGGAAGGAACCGATTTATACTCTGCCTGCCATTATAAGCAAGAAA
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>ARHGAP42|143872|protein
MGLPTLEFSDSYLDSPDFRERLQCHEIELERTNKFIKELIKDGSLLIGALRNLSMAVQKFSQSLQDFQFECIGDAETDDEISIAQSLKEFARLLIAVEEERRRLI
QNANDVLIAPLEKFRKEQIGAAKDGKKKFDKESEKYYSILEKHLNLSAKKKESHLQEADTQIDREHQNFYEASLEYVFKIQEVQEKKKFEFVEPLLSFLQGLFTF
YHEGYELAQEFAPYKQQLQFNLQNTRNNFESTRQEVERLMQRMKSANQDYRPPSQWTMEGYLYVQEKRPLGFTWIKHYCTYDKGSKTFTMSVSEMKSSGKMNGLV
TSSPEMFKLKSCIRRKTDSIDKRFCFDIEVVERHGIITLQAFSEANRKLWLEAMDGKEPIYTLPAIISKKEEMYLNEAGFNFVRKCIQAVETRGITILGLYRIGG
VNSKVQKLMNTTFSPKSPPDIDIDIELWDNKTITSGLKNYLRCLAEPLMTYKLHKDFIIAVKSDDQNYRVEAVHALVHKLPEKNREMLDILIKHLVKVSLHSQQN
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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) 1 (1) 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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top