AutismKB 2.0

Evidence Details for GFPT2


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Basic Information Top
Gene Symbol:GFPT2 ( FLJ10380,GFAT2 )
Gene Full Name: glutamine-fructose-6-phosphate transaminase 2
Band: 5q35.3
Quick LinksEntrez ID:9945; OMIM: 603865; Uniprot ID:GFPT2_HUMAN; ENSEMBL ID: ENSG00000131459; HGNC ID: 4242
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GFPT2|9945|nucleotide
ATGTGCGGAATCTTTGCCTACATGAACTACAGAGTCCCCCGGACGAGGAAGGAGATCTTCGAAACCCTCATCAAGGGCCTGCAGCGGCTGGAGTACAGAGGCTAC
GACTCGGCAGGTGTGGCGATCGATGGGAATAATCACGAAGTCAAAGAAAGACACATTCAGCTGGTCAAGAAAAGGGGGAAAGTCAAGGCTCTCGATGAAGAACTT
TACAAACAAGACAGCATGGACTTAAAAGTGGAGTTTGAGACACACTTCGGCATTGCCCACACGCGCTGGGCCACCCACGGGGTCCCCAGTGCTGTCAACAGCCAC
CCTCAGCGCTCAGACAAAGGCAACGAATTTGTTGTCATCCACAATGGGATCATCACAAATTACAAAGATCTGAGGAAATTTCTGGAAAGCAAAGGCTACGAGTTT
GAGTCAGAAACAGATACAGAGACCATCGCCAAGCTGATTAAATATGTGTTCGACAACAGAGAAACTGAGGACATTACGTTTTCAACGTTGGTCGAGAGAGTCATT
CAGCAGTTGGAAGGTGCATTCGCGCTGGTTTTCAAGAGTGTCCACTACCCAGGAGAAGCCGTTGCCACACGGAGAGGCAGCCCCCTGCTCATCGGAGTCCGGAGC
AAATACAAGCTCTCCACAGAACAGATCCCTATCTTATACAGGACGTGCACTCTGGAGAATGTGAAGAATATCTGTAAGACACGGATGAAGAGGCTGGACAGCTCC
GCCTGCCTGCATGCTGTGGGCGACAAGGCCGTGGAATTCTTCTTTGCTTCTGATGCAAGCGCTATCATAGAGCACACCAACCGGGTCATCTTCCTGGAGGACGAT
GACATCGCCGCAGTGGCTGATGGGAAACTCTCCATTCACCGGGTCAAGCGCTCGGCCAGTGATGACCCATCTCGAGCCATCCAGACCTTGCAGATGGAACTGCAG
CAAATCATGAAAGGTAACTTCAGTGCGTTTATGCAGAAGGAGATCTTCGAACAGCCAGAATCAGTTTTCAATACTATGAGAGGTCGGGTGAATTTTGAAACCAAC
ACAGTGCTCCTGGGTGGCTTGAAGGACCACTTGAAGGAGATTCGACGATGCCGACGGCTCATCGTGATTGGCTGTGGAACCAGCTACCACGCTGCCGTGGCTACG
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>GFPT2|9945|protein
MCGIFAYMNYRVPRTRKEIFETLIKGLQRLEYRGYDSAGVAIDGNNHEVKERHIQLVKKRGKVKALDEELYKQDSMDLKVEFETHFGIAHTRWATHGVPSAVNSH
PQRSDKGNEFVVIHNGIITNYKDLRKFLESKGYEFESETDTETIAKLIKYVFDNRETEDITFSTLVERVIQQLEGAFALVFKSVHYPGEAVATRRGSPLLIGVRS
KYKLSTEQIPILYRTCTLENVKNICKTRMKRLDSSACLHAVGDKAVEFFFASDASAIIEHTNRVIFLEDDDIAAVADGKLSIHRVKRSASDDPSRAIQTLQMELQ
QIMKGNFSAFMQKEIFEQPESVFNTMRGRVNFETNTVLLGGLKDHLKEIRRCRRLIVIGCGTSYHAAVATRQVLEELTELPVMVELASDFLDRNTPVFRDDVCFF
ISQSGETADTLLALRYCKDRGALTVGVTNTVGSSISRETDCGVHINAGPEIGVASTKAYTSQFISLVMFGLMMSEDRISLQNRRQEIIRGLRSLPELIKEVLSLE
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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) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
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
Linkage Studies Top