AutismKB 2.0

Evidence Details for GNB2


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Basic Information Top
Gene Symbol:GNB2 ( - )
Gene Full Name: guanine nucleotide binding protein (G protein), beta polypeptide 2
Band: 7q22.1
Quick LinksEntrez ID:2783; OMIM: 139390; Uniprot ID:GBB2_HUMAN; ENSEMBL ID: ENSG00000172354; HGNC ID: 4398
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GNB2|2783|nucleotide
ATGAGTGAGCTGGAGCAACTGAGACAGGAGGCCGAGCAGCTCCGGAACCAGATCCGGGATGCCCGAAAAGCATGTGGGGACTCAACACTGACCCAGATCACAGCT
GGGCTGGACCCAGTGGGGAGAATCCAGATGAGGACCCGGAGGACCCTCCGTGGGCACCTGGCAAAGATCTATGCCATGCACTGGGGGACCGACTCAAGGCTGCTG
GTCAGCGCCTCCCAGGATGGGAAGCTCATCATCTGGGACAGCTACACCACCAACAAGGTCCACGCCATCCCGCTGCGCTCCTCCTGGGTAATGACCTGTGCCTAC
GCGCCCTCAGGGAACTTTGTGGCCTGTGGGGGGTTGGACAACATCTGCTCCATCTACAGCCTCAAGACCCGCGAGGGCAACGTCAGGGTCAGCCGGGAGCTGCCT
GGCCACACTGGGTACCTGTCGTGTTGCCGCTTCCTGGATGACAACCAAATCATCACCAGCTCTGGGGATACCACCTGTGCCCTGTGGGACATTGAGACAGGCCAG
CAGACAGTGGGTTTTGCTGGACACAGTGGGGATGTGATGTCCCTGTCCCTGGCCCCCGATGGCCGCACGTTTGTGTCAGGCGCCTGTGATGCCTCTATCAAGCTG
TGGGACGTGCGGGATTCCATGTGCCGACAGACCTTCATCGGCCATGAATCCGACATCAATGCAGTGGCTTTCTTCCCCAACGGCTACGCCTTCACCACCGGCTCT
GACGACGCCACGTGCCGCCTCTTCGACCTGCGGGCCGATCAGGAGCTCCTCATGTACTCCCATGACAACATCATCTGTGGCATCACCTCTGTTGCCTTCTCGCGC
AGCGGACGGCTGCTGCTCGCTGGCTACGACGACTTCAACTGCAACATCTGGGATGCCATGAAGGGCGACCGTGCAGGAGTCCTCGCTGGCCACGACAACCGCGTG
AGCTGCCTCGGGGTCACCGACGATGGCATGGCTGTGGCCACGGGCTCCTGGGACTCCTTCCTCAAGATCTGGAACTAA

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>GNB2|2783|protein
MSELEQLRQEAEQLRNQIRDARKACGDSTLTQITAGLDPVGRIQMRTRRTLRGHLAKIYAMHWGTDSRLLVSASQDGKLIIWDSYTTNKVHAIPLRSSWVMTCAY
APSGNFVACGGLDNICSIYSLKTREGNVRVSRELPGHTGYLSCCRFLDDNQIITSSGDTTCALWDIETGQQTVGFAGHSGDVMSLSLAPDGRTFVSGACDASIKL
WDVRDSMCRQTFIGHESDINAVAFFPNGYAFTTGSDDATCRLFDLRADQELLMYSHDNIICGITSVAFSRSGRLLLAGYDDFNCNIWDAMKGDRAGVLAGHDNRV
SCLGVTDDGMAVATGSWDSFLKIWN

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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) 1 (1) 1 (1) 0 (0) 0 (0) 0 (0) 13 (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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top