AutismKB 2.0

Evidence Details for GAB4


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Basic Information Top
Gene Symbol:GAB4 ( - )
Gene Full Name: GRB2-associated binding protein family, member 4
Band: 22q11.1
Quick LinksEntrez ID:128954; OMIM: NA; Uniprot ID:GAB4_HUMAN; ENSEMBL ID: ENSG00000215568; HGNC ID: 18325
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GAB4|128954|nucleotide
ATGTCCCTGCCGTCCCCCTCACCCTCCCGGGAGCTGTGCCCACCTGACCCGGCATTTGCGCCTTTGTCTTCGTGGCCCGGAAGTGGCCCCGCCGGCGGAAGCACG
AGAAGTGGCCACGTGCTGTACAGCGGCTGGCTGAGGAAGTCGCCCCCCGAGAAGAAGCTGAGGCTCTTTGCCTGGAGGAAACGCTGGTTTATCCTGCGGAGGGGC
CAGACTAGCAGTGACCCAGATGTTCTGGAATACTACAAGAATGATGGCTCCAAGAAGCCCCTGCGCACCATCAACCTGAACCTCTGTGAGCAGCTGGATGTTGAT
GTGACTCTGAACTTCAACAAGAAGGAGATTCAGAAGGGCTATATGTTTGACATCAAGACCAGTGAGCGTACCTTTTACCTGGTGGCTGAGACCAGGGAGGACATG
AATGAGTGGGTCCAGAGCATCTGTCAGATCTGTGGCTTCAGGCAGGAGGAAAGCACAGGCTTCCTGGGAAACATTTCCTCAGCCAGTCACGGCCTCTGCTCTTCT
CCAGCTGAGCCCAGCTGCTCCCATCAGCACCTCCCCCAAGAACAAGAACCCACATCTGAGCCCCCGGTGTCTCACTGTGTGCCGCCCACCTGGCCCATCCCTGCA
CCTCCGGGGTGTCTCCGCTCGCACCAGCACGCCAGCCAGAGAGCAGAACATGCAAGGAGTGCCAGCTTCTCCCAGGGTTCTGAGGCCCCATTCATCATGAGGAGA
AACACAGCCATGCAAAATCTTGCCCAGCACAGTGGATACAGTGTTGATGGGGTCAGCGGTCACATCCATGGCTTCCATAGCCTTTCCAAGCCCAGCCAGCACAAT
GCAGAATTCAGAGGCAGCACCCACAGAATCCCCTGGAGCCTGGCCTCCCATGGCCACACCAGAGGCAGCCTCACAGGCTCTGAGGCGGATAATGAGGCTTCCTCC
GGCAAGTACACCCAGCATGGTGGAGGGAATGCCAGCCGGCCTGCTGAGTCCATGCATGAGGGAGTCTGTTCTTTCCTGCCAGGAAGAACGCTTGTGGGCCTGTCA
GACAGCATTGCTTCTGAGGGCAGCTGTGTGCCCATGAACCCAGGCTCCCCTACCCTGCCGGCTGTGAAGCAAGCAGGCGATGATTCCCAGGGTGTCTGCATCCCT
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>GAB4|128954|protein
MSLPSPSPSRELCPPDPAFAPLSSWPGSGPAGGSTRSGHVLYSGWLRKSPPEKKLRLFAWRKRWFILRRGQTSSDPDVLEYYKNDGSKKPLRTINLNLCEQLDVD
VTLNFNKKEIQKGYMFDIKTSERTFYLVAETREDMNEWVQSICQICGFRQEESTGFLGNISSASHGLCSSPAEPSCSHQHLPQEQEPTSEPPVSHCVPPTWPIPA
PPGCLRSHQHASQRAEHARSASFSQGSEAPFIMRRNTAMQNLAQHSGYSVDGVSGHIHGFHSLSKPSQHNAEFRGSTHRIPWSLASHGHTRGSLTGSEADNEASS
GKYTQHGGGNASRPAESMHEGVCSFLPGRTLVGLSDSIASEGSCVPMNPGSPTLPAVKQAGDDSQGVCIPVGSCLVRFDLLGSPLTELSMHQDLSQGHEVQLPPV
NRSLKPNQKANPTPPNLRNNRVINELSFKPPVTEPWSGTSHTFDSSSSQHPISTQSITNTDSEDSGERYLFPNPASAFPVSGGTSSSAPPRSTGNIHYAALDFQP
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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 (3) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (4)
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
Roubertie, 2001 - FISHautism - - - - 1 - 1
Niklasson, 2002 Sweden FISHautism - - - - 1 - 1
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top