AutismKB 2.0

Evidence Details for ARHGEF2


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Basic Information Top
Gene Symbol:ARHGEF2 ( DKFZp547L106,DKFZp547P1516,FLJ45440,GEF,GEF-H1,GEFH1,KIAA0651,LFP40,P40 )
Gene Full Name: Rho/Rac guanine nucleotide exchange factor (GEF) 2
Band: 1q22
Quick LinksEntrez ID:9181; OMIM: 607560; Uniprot ID:ARHG2_HUMAN; ENSEMBL ID: ENSG00000116584; HGNC ID: 682
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ARHGEF2|9181|nucleotide
ATGTCTCGGATCGAATCCCTCACGCGGGCGCGGATCGACCGGAGCAGAGAGCTGGCGAGCAAGACCCGGGAAAAGGAGAAGATGAAGGAAGCCAAGGATGCCCGC
TATACCAATGGGCACCTCTTCACCACCATTTCAGTTTCAGGCATGACCATGTGCTATGCCTGTAACAAGAGCATCACAGCCAAGGAAGCCCTCATCTGCCCAACC
TGCAATGTGACTATCCACAACCGCTGTAAAGACACCCTCGCCAACTGTACCAAGGTCAAGCAGAAGCAACAGAAAGCGGCCCTGCTGAAGAACAACACCGCCTTG
CAGTCCGTTTCTCTTCGAAGTAAGACAACCATCCGGGAGCGGCCAAGCTCGGCCATCTACCCCTCCGACAGCTTCCGGCAGTCCCTCCTGGGCTCCCGCCGTGGC
CGCTCCTCCTTGTCTTTAGCCAAGAGTGTTTCTACCACCAACATTGCTGGACATTTCAATGATGAGTCTCCCCTGGGGCTGCGCCGGATCCTCTCACAGTCCACA
GACTCCCTCAACATGCGGAACCGAACCCTATCCGTGGAATCCCTCATTGACGAAGCAGAGGTAATCTACAGTGAGCTGATGAGTGACTTTGAGATGGATGAGAAG
GACTTTGCAGCTGACTCTTGGAGTCTTGCTGTGGACAGCAGCTTCCTGCAGCAGCATAAAAAGGAGGTGATGAAGCAGCAAGATGTCATCTATGAGCTAATCCAG
ACAGAGCTGCACCATGTGAGGACACTGAAGATCATGACCCGCCTCTTCCGCACGGGGATGCTGGAAGAGCTACACTTGGAGCCAGGAGTGGTCCAGGGCCTGTTC
CCCTGCGTGGACGAGCTCAGTGACATCCATACACGCTTCCTCAGCCAGCTATTAGAACGCCGACGCCAGGCCCTGTGCCCTGGCAGCACCCGGAACTTTGTCATC
CATCGCTTGGGTGATCTGCTCATCAGCCAGTTCTCAGGTCCTAGTGCGGAGCAGATGTGTAAGACCTACTCGGAGTTCTGCAGCCGCCACAGCAAGGCCTTAAAG
CTCTATAAGGAGCTGTACGCCCGAGACAAACGCTTCCAGCAATTCATCCGGAAAGTGACCCGCCCCGCCGTGCTCAAGCGGCACGGGGTACAGGAGTGCATCCTG
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>ARHGEF2|9181|protein
MSRIESLTRARIDRSRELASKTREKEKMKEAKDARYTNGHLFTTISVSGMTMCYACNKSITAKEALICPTCNVTIHNRCKDTLANCTKVKQKQQKAALLKNNTAL
QSVSLRSKTTIRERPSSAIYPSDSFRQSLLGSRRGRSSLSLAKSVSTTNIAGHFNDESPLGLRRILSQSTDSLNMRNRTLSVESLIDEAEVIYSELMSDFEMDEK
DFAADSWSLAVDSSFLQQHKKEVMKQQDVIYELIQTELHHVRTLKIMTRLFRTGMLEELHLEPGVVQGLFPCVDELSDIHTRFLSQLLERRRQALCPGSTRNFVI
HRLGDLLISQFSGPSAEQMCKTYSEFCSRHSKALKLYKELYARDKRFQQFIRKVTRPAVLKRHGVQECILLVTQRITKYPLLISRILQHSHGIEEERQDLTTALG
LVKELLSNVDEGIYQLEKGARLQEIYNRMDPRAQTPVPGKGPFGREELLRRKLIHDGCLLWKTATGRFKDVLVLLMTDVLVFLQEKDQKYIFPTLDKPSVVSLQN
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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