AutismKB 2.0

Evidence Details for ARHGEF7


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ARHGEF7 ( BETA-PIX,COOL-1,COOL1,DKFZp686C12170,DKFZp761K1021,KIAA0142,KIAA0412,Nbla10314,P50,P50BP,P85,P85COOL1,P85SPR,PAK3,PIXB )
Gene Full Name: Rho guanine nucleotide exchange factor (GEF) 7
Band: 13q34
Quick LinksEntrez ID:8874; OMIM: 605477; Uniprot ID:ARHG7_HUMAN; ENSEMBL ID: ENSG00000102606; HGNC ID: 15607
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ARHGEF7|8874|nucleotide
ATGAATTCCGCCGAGCAAACCGTTACGTGGCTCATCACTCTGGGGGTGCTGGAGTCGCCCAAAAAAACCATCTCGGACCCGGAGGGCTTTCTGCAGGCGTCGCTG
AAGGATGGGGTGGTCCTCTGCAGGCTGCTGGAGCGCCTGCTCCCCGGGACCATCGAGAAAGTCTACCCCGAGCCCCGGAGCGAGAGCGAGTGCCTGAGCAACATC
CGCGAGTTCCTGCGCGGCTGCGGGGCTTCCCTGCGGCTGGAGCTCCTGTTTCCTCCTTCCCAGCCTCCTCAGCATCTGGTAACCACCATTCTCTTGTCTGCTTCT
ACGTTTGATGCAAATGATTTGTATCAGGGGCAGAATTTTAACAAGGTCCTCAGTTCCTTAGTGACTCTAAATAAAGTAACAGCAGACATCGGGCTGGGGAGTGAC
TCCGTGTGTGCCCGGCCCTCGTCTCACCGCATAAAGTCTTTTGACTCCCTTGGATCACAGTCTTTGCACACTCGGACTTCAAAACTGTTCCAGGGCCAGTATCGG
AGTTTGGACATGACCGATAATAGCAACAATCAACTGGTAGTAAGAGCAAAGTTTAACTTCCAGCAGACCAATGAGGACGAGCTTTCCTTCTCAAAAGGAGACGTC
ATCCATGTCACCCGTGTGGAAGAGGGAGGCTGGTGGGAGGGCACACTCAACGGCCGGACCGGCTGGTTCCCCAGCAACTACGTGCGCGAGGTCAAGGCCAGCGAG
AAGCCTGTGTCTCCCAAATCAGGAACACTGAAGAGCCCTCCCAAAGGATTTGATACGACTGCCATAAACAAAAGCTATTACAATGTGGTGCTACAGAATATTTTA
GAAACAGAAAATGAATATTCTAAAGAACTTCAGACTGTGCTTTCAACGTACCTACGGCCATTGCAGACCAGTGAGAAGTTAAGTTCAGCAAACATTTCATATTTA
ATGGGAAATCTAGAAGAAATATGTTCTTTCCAGCAAATGCTCGTACAGTCTTTAGAAGAATGCACCAAGTTGCCCGAAGCTCAGCAGAGAGTCGGAGGCTGCTTT
TTAAACCTGATGCCACAGATGAAAACCCTGTACCTCACGTATTGTGCCAATCACCCTTCTGCAGTGAATGTCCTCACGGAACACAGTGAGGAGTTGGGGGAGTTC
Show »

>ARHGEF7|8874|protein
MNSAEQTVTWLITLGVLESPKKTISDPEGFLQASLKDGVVLCRLLERLLPGTIEKVYPEPRSESECLSNIREFLRGCGASLRLELLFPPSQPPQHLVTTILLSAS
TFDANDLYQGQNFNKVLSSLVTLNKVTADIGLGSDSVCARPSSHRIKSFDSLGSQSLHTRTSKLFQGQYRSLDMTDNSNNQLVVRAKFNFQQTNEDELSFSKGDV
IHVTRVEEGGWWEGTLNGRTGWFPSNYVREVKASEKPVSPKSGTLKSPPKGFDTTAINKSYYNVVLQNILETENEYSKELQTVLSTYLRPLQTSEKLSSANISYL
MGNLEEICSFQQMLVQSLEECTKLPEAQQRVGGCFLNLMPQMKTLYLTYCANHPSAVNVLTEHSEELGEFMETKGASSPGILVLTTGLSKPFMRLDKYPTLLKEL
ERHMEDYHTDRQDIQKSMAAFKNLSAQCQEVRKRKELELQILTEAIRNWEGDDIKTLGNVTYMSQVLIQCAGSEEKNERYLLLFPNVLLMLSASPRMSGFIYQGK
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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) 1 (1) 0 (0) 0 (0) 0 (0) 10 (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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top