AutismKB 2.0

Evidence Details for GIGYF1


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Basic Information Top
Gene Symbol:GIGYF1 ( GYF1,PERQ1 )
Gene Full Name: GRB10 interacting GYF protein 1
Band: 7q22.1
Quick LinksEntrez ID:64599; OMIM: 612064; Uniprot ID:PERQ1_HUMAN; ENSEMBL ID: ENSG00000146830; HGNC ID: 9126
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GIGYF1|64599|nucleotide
ATGGCAGCAGAGACACTCAACTTTGGGCCTGAGTGGCTCAGGGCCCTGTCCGGGGGCGGCAGCGTGGCCTCCCCACCCCCGTCCCCTGCCATGCCCAAATACAAG
CTGGCTGACTACCGTTATGGGCGAGAGGAAATGCTGGCTCTCTACGTCAAGGAGAACAAGGTCCCGGAAGAGCTGCAGGACAAGGAGTTCGCCGCGGTGCTGCAG
GACGAGCCACTGCAGCCCCTGGCTCTGGAGCCGCTGACTGAGGAGGAACAGAGAAACTTCTCCCTGTCAGTGAACAGCGTGGCTGTGCTGAGGCTGATGGGGAAA
GGGGCTGGCCCCCCCCTGGCTGGCACCTCCCGAGGCAGGGGCAGCACGCGGAGCCGAGGCCGCGGCCGTGGTGACAGCTGCTTTTACCAAAGAAGCATCGAAGAA
GGCGATGGGGCCTTTGGACGAAGCCCCCGGGAAATCCAGCGCAGCCAGAGCTGGGATGACAGAGGCGAGAGGCGGTTTGAGAAGTCAGCAAGGCGGGATGGAGCA
CGATGTGGCTTTGAGGAGGGAGGGGCTGGCCCAAGGAAGGAGCACGCCCGCTCAGACAGCGAGAACTGGCGCTCCCTACGGGAGGAACAGGAGGAGGAGGAGGAG
GGCAGCTGGAGGCTCGGAGCAGGGCCCCGGCGAGACGGCGACCGCTGGCGCTCCGCCAGCCCTGATGGTGGTCCCCGCTCTGCTGGCTGGCGGGAACATGGGGAA
CGGCGGCGCAAGTTTGAATTTGATTTGCGAGGGGATCGAGGAGGGTGTGGTGAAGAGGAGGGGCGGGGAGGGGGAGGCAGCTCTCACCTGCGGCGGTGCCGAGCG
CCTGAAGGCTTTGAGGAGGACAAGGATGGGCTCCCAGAGTGGTGCCTGGACGATGAGGATGAAGAAATGGGCACCTTTGATGCCTCTGGGGCCTTCTTGCCTCTC
AAGAAGGGCCCCAAGGAGCCCATTCCTGAGGAGCAGGAGCTGGACTTCCAAGGGTTGGAGGAGGAGGAGGAACCTTCCGAAGGGCTAGAGGAGGAAGGGCCTGAG
GCAGGTGGGAAAGAGCTGACCCCACTGCCTCCTCAGGAGGAGAAGTCCAGCTCCCCATCCCCACTGCCCACCCTGGGCCCACTCTGGGGGACAAACGGGGATGGG
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>GIGYF1|64599|protein
MAAETLNFGPEWLRALSGGGSVASPPPSPAMPKYKLADYRYGREEMLALYVKENKVPEELQDKEFAAVLQDEPLQPLALEPLTEEEQRNFSLSVNSVAVLRLMGK
GAGPPLAGTSRGRGSTRSRGRGRGDSCFYQRSIEEGDGAFGRSPREIQRSQSWDDRGERRFEKSARRDGARCGFEEGGAGPRKEHARSDSENWRSLREEQEEEEE
GSWRLGAGPRRDGDRWRSASPDGGPRSAGWREHGERRRKFEFDLRGDRGGCGEEEGRGGGGSSHLRRCRAPEGFEEDKDGLPEWCLDDEDEEMGTFDASGAFLPL
KKGPKEPIPEEQELDFQGLEEEEEPSEGLEEEGPEAGGKELTPLPPQEEKSSSPSPLPTLGPLWGTNGDGDETAEKEPPAAEDDIRGIQLSPGVGSSAGPPGDLE
DDEGLKHLQQEAEKLVASLQDSSLEEEQFTAAMQTQGLRHSAAATALPLSHGAARKWFYKDPQGEIQGPFTTQEMAEWFQAGYFSMSLLVKRGCDEGFQPLGEVI
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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 (2) 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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top