AutismKB 2.0

Evidence Details for GCN1L1


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Basic Information Top
Gene Symbol:GCN1L1 ( GCN1,GCN1L,KIAA0219,PRIC295 )
Gene Full Name: GCN1 general control of amino-acid synthesis 1-like 1 (yeast)
Band: 12q24.2
Quick LinksEntrez ID:10985; OMIM: 605614; Uniprot ID:GCN1L_HUMAN; ENSEMBL ID: ENSG00000089154; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GCN1L1|10985|nucleotide
ATGGCGGCGGACACGCAGGTTTCCGAGACACTAAAGCGTTTTGCAGGGAAGGTGACAACAGCCAGTGTAAAGGAACGGAGAGAAATCCTCAGTGAACTTGGGAAG
TGTGTTGCTGGAAAAGATCTTCCAGAGGGAGCAGTGAAGGGGCTCTGCAAATTGTTCTGCTTGACTCTGCATCGATATAGAGATGCAGCCTCCCGCAGGGCCTTG
CAGGCAGCCATCCAGCAGTTGGCTGAGGCCCAGCCAGAAGCCACTGCTAAGAACCTTCTACACTCTCTGCAGTCTTCTGGTATAGGCTCCAAAGCAGGTGTTCCC
AGTAAGAGCAGTGGCTCTGCCGCCTTGCTGGCCTTGACCTGGACCTGCCTCCTGGTGCGCATTGTCTTTCCATCGAGAGCCAAGCGACAAGGAGACATCTGGAAC
AAACTGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAG
AACCCCGGGCTGGTGGAACAGTACTTGTCAGCCATTCTCAGCCTAGAGCCCAACCAGAACTATGCTGGCATGCTGGGGCTGCTGGTGCAGTTCTGCACGAGTCAC
AAGGAGATGGACGTGGTCAGTCAGCACAAGAGCGCCCTACTGGACTTTTACATGAAGAACATCCTGATGAGCAAAGTCAAGCCTCCGAAGTACCTGTTGGATAGC
TGTGCCCCTCTGCTCCGATACCTGTCCCACTCAGAATTTAAGGATCTGATACTGCCCACCATACAGAAGTCCTTACTGAGGAGTCCAGAGAATGTTATTGAAACT
ATTTCTAGTCTGCTGGCATCAGTGACGCTTGACCTCAGCCAGTATGCCATGGACATCGTGAAAGGACTGGCTGGTCACCTGAAATCCAACAGTCCCCGCCTGATG
GATGAAGCTGTGCTGGCACTGCGGAACCTGGCACGCCAGTGCAGTGACTCTTCGGCCATGGAATCCCTGACCAAGCACCTATTTGCTATCCTCGGAGGCTCGGAA
GGAAAACTAACTGTTGTAGCCCAGAAGATGAGCGTCCTCTCAGGGATTGGGAGCGTCAGTCATCACGTGGTGTCTGGACCTTCCAGTCAGGTCCTGAATGGGATC
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>GCN1L1|10985|protein
MAADTQVSETLKRFAGKVTTASVKERREILSELGKCVAGKDLPEGAVKGLCKLFCLTLHRYRDAASRRALQAAIQQLAEAQPEATAKNLLHSLQSSGIGSKAGVP
SKSSGSAALLALTWTCLLVRIVFPSRAKRQGDIWNKLVEVQCLLLLEVLGGSHKHAVDGAVKKLTKLWKENPGLVEQYLSAILSLEPNQNYAGMLGLLVQFCTSH
KEMDVVSQHKSALLDFYMKNILMSKVKPPKYLLDSCAPLLRYLSHSEFKDLILPTIQKSLLRSPENVIETISSLLASVTLDLSQYAMDIVKGLAGHLKSNSPRLM
DEAVLALRNLARQCSDSSAMESLTKHLFAILGGSEGKLTVVAQKMSVLSGIGSVSHHVVSGPSSQVLNGIVAELFIPFLQQEVHEGTLVHAVSVLALWCNRFTME
VPKKLTEWFKKAFSLKTSTSAVRHAYLQCMLASYRGDTLLQALDLLPLLIQTVEKAASQSTQVPTITEGVAAALLLLKLSVADSQAEAKLSSFWQLIVDEKKQVF
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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 (3) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (5)
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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top