AutismKB 2.0

Evidence Details for GNA11


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Basic Information Top
Gene Symbol:GNA11 ( GNA-11 )
Gene Full Name: guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
Band: 19p13.3
Quick LinksEntrez ID:2767; OMIM: 139313; Uniprot ID:GNA11_HUMAN; ENSEMBL ID: ENSG00000088256; HGNC ID: 4379
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GNA11|2767|nucleotide
ATGACTCTGGAGTCCATGATGGCGTGTTGCCTGAGCGATGAGGTGAAGGAGTCCAAGCGGATCAACGCCGAGATCGAGAAGCAGCTGCGGCGGGACAAGCGCGAC
GCCCGGCGCGAGCTCAAGCTGCTGCTGCTCGGCACGGGCGAGAGCGGGAAGAGCACGTTCATCAAGCAGATGCGCATCATCCACGGCGCCGGCTACTCGGAGGAG
GACAAGCGCGGCTTCACCAAGCTCGTCTACCAGAACATCTTCACCGCCATGCAGGCCATGATCCGGGCCATGGAGACGCTCAAGATCCTCTACAAGTACGAGCAG
AACAAGGCCAATGCGCTCCTGATCCGGGAGGTGGACGTGGAGAAGGTGACCACCTTCGAGCATCAGTACGTCAGTGCCATCAAGACCCTGTGGGAGGACCCGGGC
ATCCAGGAATGCTACGACCGCAGGCGCGAGTACCAGCTCTCCGACTCTGCCAAGTACTACCTGACCGACGTTGACCGCATCGCCACCTTGGGCTACCTGCCCACC
CAGCAGGACGTGCTGCGGGTCCGCGTGCCCACCACCGGCATCATCGAGTACCCTTTCGACCTGGAGAACATCATCTTCCGGATGGTGGATGTGGGGGGCCAGCGG
TCGGAGCGGAGGAAGTGGATCCACTGCTTTGAGAACGTGACATCCATCATGTTTCTCGTCGCCCTCAGCGAATACGACCAAGTCCTGGTGGAGTCGGACAACGAG
AACCGGATGGAGGAGAGCAAAGCCCTGTTCCGGACCATCATCACCTACCCCTGGTTCCAGAACTCCTCCGTCATCCTCTTCCTCAACAAGAAGGACCTGCTGGAG
GACAAGATCCTGTACTCGCACCTGGTGGACTACTTCCCCGAGTTCGATGGTCCCCAGCGGGACGCCCAGGCGGCGCGGGAGTTCATCCTGAAGATGTTCGTGGAC
CTGAACCCCGACAGCGACAAGATCATCTACTCACACTTCACGTGTGCCACCGACACGGAGAACATCCGCTTCGTGTTCGCGGCCGTGAAGGACACCATCCTGCAG
CTCAACCTCAAGGAGTACAACCTGGTCTGA
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>GNA11|2767|protein
MTLESMMACCLSDEVKESKRINAEIEKQLRRDKRDARRELKLLLLGTGESGKSTFIKQMRIIHGAGYSEEDKRGFTKLVYQNIFTAMQAMIRAMETLKILYKYEQ
NKANALLIREVDVEKVTTFEHQYVSAIKTLWEDPGIQECYDRRREYQLSDSAKYYLTDVDRIATLGYLPTQQDVLRVRVPTTGIIEYPFDLENIIFRMVDVGGQR
SERRKWIHCFENVTSIMFLVALSEYDQVLVESDNENRMEESKALFRTIITYPWFQNSSVILFLNKKDLLEDKILYSHLVDYFPEFDGPQRDAQAAREFILKMFVD
LNPDSDKIIYSHFTCATDTENIRFVFAAVKDTILQLNLKEYNLV

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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 (2) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 4 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top