AutismKB 2.0

Evidence Details for GNB5


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Basic Information Top
Gene Symbol:GNB5 ( FLJ37457,FLJ43714,GB5 )
Gene Full Name: guanine nucleotide binding protein (G protein), beta 5
Band: 15q21.2
Quick LinksEntrez ID:10681; OMIM: 604447; Uniprot ID:GBB5_HUMAN; ENSEMBL ID: ENSG00000069966; HGNC ID: 4401
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GNB5|10681|nucleotide
ATGGCAACCGAGGGGCTGCACGAGAACGAGACGCTGGCGTCGCTGAAGAGCGAGGCCGAGAGCCTCAAGGGCAAGCTGGAGGAGGAGCGAGCCAAGCTGCACGAT
GTGGAGCTGCACCAGGTGGCGGAGCGGGTGGAGGCCCTGGGGCAGTTTGTCATGAAGACCAGAAGGACCCTCAAAGGCCACGGGAACAAAGTCCTGTGCATGGAC
TGGTGCAAAGATAAGAGGAGGATCGTGAGCTCGTCACAGGATGGGAAGGTGATCGTGTGGGATTCCTTCACCACAAACAAGGAGCACGCGGTCACCATGCCCTGC
ACGTGGGTGATGGCATGTGCTTATGCCCCATCGGGATGTGCCATTGCTTGTGGTGGTTTGGATAATAAGTGTTCTGTGTACCCCTTGACGTTTGACAAAAATGAA
AACATGGCTGCCAAAAAGAAGTCTGTTGCTATGCACACCAACTACCTGTCGGCCTGCAGCTTCACCAACTCTGACATGCAGATCCTGACAGCGAGCGGCGATGGC
ACATGTGCCCTGTGGGACGTGGAGAGCGGGCAGCTGCTGCAGAGCTTCCACGGACATGGGGCTGACGTCCTCTGCTTGGACCTGGCCCCCTCAGAAACTGGAAAC
ACCTTCGTGTCTGGGGGATGTGACAAGAAAGCCATGGTGTGGGACATGCGCTCCGGCCAGTGCGTGCAGGCCTTTGAAACACATGAATCTGACATCAACAGTGTC
CGGTACTACCCCAGTGGAGATGCCTTTGCTTCAGGGTCAGATGACGCTACGTGTCGCCTCTATGACCTGCGGGCAGATAGGGAGGTTGCCATCTATTCCAAAGAA
AGCATCATATTTGGAGCATCCAGCGTGGACTTCTCCCTCAGTGGTCGCCTGCTGTTTGCTGGATACAATGATTACACTATCAACGTCTGGGATGTTCTCAAAGGG
TCCCGGGTCTCCATCCTGTTTGGACATGAAAACCGCGTTAGCACTCTACGAGTTTCCCCCGATGGGACTGCTTTCTGCTCTGGATCATGGGATCATACCCTCAGA
GTCTGGGCCTAA
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>GNB5|10681|protein
MATEGLHENETLASLKSEAESLKGKLEEERAKLHDVELHQVAERVEALGQFVMKTRRTLKGHGNKVLCMDWCKDKRRIVSSSQDGKVIVWDSFTTNKEHAVTMPC
TWVMACAYAPSGCAIACGGLDNKCSVYPLTFDKNENMAAKKKSVAMHTNYLSACSFTNSDMQILTASGDGTCALWDVESGQLLQSFHGHGADVLCLDLAPSETGN
TFVSGGCDKKAMVWDMRSGQCVQAFETHESDINSVRYYPSGDAFASGSDDATCRLYDLRADREVAIYSKESIIFGASSVDFSLSGRLLFAGYNDYTINVWDVLKG
SRVSILFGHENRVSTLRVSPDGTAFCSGSWDHTLRVWA

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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 (1) 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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top