AutismKB 2.0

Evidence Details for CHN2


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Basic Information Top
Gene Symbol:CHN2 ( ARHGAP3,BCH,MGC138360,RHOGAP3 )
Gene Full Name: chimerin (chimaerin) 2
Band: 7p14.3
Quick LinksEntrez ID:1124; OMIM: 602857; Uniprot ID:CHIO_HUMAN; ENSEMBL ID: ENSG00000106069; HGNC ID: 1944
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CHN2|1124|nucleotide
ATGTTCTCTGAAGAACTGTGGCTGGAAAATGAGAAAAAGTGTGCTGTGGTTCGGAAGTCTAAGCAGGGCAGGAAACGCCAAGAACTGCTGGCCGTAGCCTTCGGG
GTGAAGGTGGGTGTCAAAGGCGGCTTTCTTTGGCCCCCTCTCAAACTCTTTGCCTGTTCACAGATCTCCTCCCTGGTTCGAAGGGCTGCCCTCACACACAACGAC
AACCACTTCAATTATGAGAAGACACACAACTTTAAGGTCCACACGTTCCGAGGCCCACACTGGTGTGAATATTGTGCCAATTTCATGTGGGGGCTCATCGCCCAA
GGGGTCCGGTGCTCAGACTGTGGATTGAACGTACACAAACAGTGTTCCAAGCACGTTCCCAATGACTGCCAACCTGATCTCAAGAGGATCAAGAAAGTGTACTGT
TGTGACCTCACAACACTTGTGAAGGCTCACAACACTCAGAGACCCATGGTGGTAGACATATGCATTCGGGAAATTGAAGCAAGAGGATTAAAATCGGAAGGCCTT
TACAGAGTCTCTGGGTTCACTGAACACATTGAAGATGTCAAAATGGCATTTGACAGAGATGGTGAAAAGGCCGATATATCTGCCAATGTCTATCCAGACATAAAC
ATCATCACTGGAGCCCTTAAACTGTATTTCAGAGACTTACCCATCCCTGTCATCACATATGATACCTATTCCAAATTTATAGATGCAGCAAAAATCTCCAATGCA
GATGAGAGGCTGGAAGCCGTCCATGAAGTGCTGATGCTGCTGCCTCCTGCCCACTATGAAACCCTCCGGTACCTAATGATCCACCTCAAAAAGGTTACTATGAAT
GAAAAAGACAATTTCATGAATGCAGAAAATCTGGGGATCGTGTTTGGGCCCACTCTGATGAGGCCCCCTGAGGACAGCACCCTGACCACCCTGCATGATATGCGG
TACCAAAAGCTGATTGTGCAGATTTTAATAGAAAACGAAGACGTTTTATTCTAA

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>CHN2|1124|protein
MFSEELWLENEKKCAVVRKSKQGRKRQELLAVAFGVKVGVKGGFLWPPLKLFACSQISSLVRRAALTHNDNHFNYEKTHNFKVHTFRGPHWCEYCANFMWGLIAQ
GVRCSDCGLNVHKQCSKHVPNDCQPDLKRIKKVYCCDLTTLVKAHNTQRPMVVDICIREIEARGLKSEGLYRVSGFTEHIEDVKMAFDRDGEKADISANVYPDIN
IITGALKLYFRDLPIPVITYDTYSKFIDAAKISNADERLEAVHEVLMLLPPAHYETLRYLMIHLKKVTMNEKDNFMNAENLGIVFGPTLMRPPEDSTLTTLHDMR
YQKLIVQILIENEDVLF

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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) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 1 (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