AutismKB 2.0

Evidence Details for PFKL


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Basic Information Top
Gene Symbol:PFKL ( DKFZp686G1648,DKFZp686L2097,FLJ30173,FLJ40909,PFK-B )
Gene Full Name: phosphofructokinase, liver
Band: 21q22.3
Quick LinksEntrez ID:5211; OMIM: 171860; Uniprot ID:K6PL_HUMAN; ENSEMBL ID: ENSG00000141959; HGNC ID: 8876
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PFKL|5211|nucleotide
ATGGCCGCGGTGGACCTGGAGAAGCTGCGGGCGTCGGGCGCGGGCAAGGCCATCGGCGTCCTGACCAGCGGCGGCGACGCGCAAGGCATGAACGCTGCTGTCCGG
GCTGTGACGCGCATGGGCATTTATGTGGGTGCCAAAGTCTTCCTCATCTACGAGGGCTATGAGGGCCTCGTGGAGGGAGGTGAGAACATCAAGCAGGCCAACTGG
CTGAGCGTCTCCAACATCATCCAGCTGGGCGGCACTATCATTGGCAGCGCTCGCTGCAAGGCCTTTACCACCAGGGAGGGGCGCCGGGCAGCGGCCTACAACCTG
GTCCAGCACGGCATCACCAACCTGTGCGTCATCGGCGGGGATGGCAGCCTCACAGGTGCCAACATCTTCCGCAGCGAGTGGGGCAGCCTGCTGGAGGAGCTGGTG
GCGGAAGGTAAGATCTCAGAGACTACAGCCCGGACCTACTCGCACCTGAACATCGCGGGCCTAGTGGGCTCCATCGATAACGACTTCTGCGGCACCGACATGACC
ATCGGCACGGACTCGGCCCTCCACCGCATCATGGAGGTCATCGATGCCATCACCACCACTGCCCAGAGCCACCAGAGGACCTTCGTGCTGGAAGTGATGGGCCGG
CACTGCGGGTACCTGGCGCTGGTATCTGCACTGGCCTCAGGGGCCGACTGGCTGTTCATCCCCGAGGCTCCACCCGAGGACGGCTGGGAGAACTTCATGTGTGAG
AGGCTGGGTGAGACTCGGAGCCGTGGGTCCCGACTGAACATCATCATCATCGCTGAGGGTGCCATTGACCGCAACGGGAAGCCCATCTCGTCCAGCTACGTGAAG
GACCTGGTGGTTCAGAGGCTGGGCTTCGACACCCGTGTAACTGTGCTGGGCCACGTGCAGCGGGGAGGGACGCCCTCTGCCTTCGACCGGATCCTGAGCAGCAAG
ATGGGCATGGAGGCGGTGATGGCGCTGCTGGAAGCCACGCCTGACACGCCGGCCTGCGTGGTCACCCTCTCGGGGAACCAGTCAGTGCGGCTGCCCCTCATGGAG
TGCGTGCAGATGACCAAGGAAGTGCAGAAAGCCATGGATGACAAGAGGTTTGACGAGGCCACCCAGCTCCGTGGTGGGAGCTTCGAGAACAACTGGAACATTTAC
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>PFKL|5211|protein
MAAVDLEKLRASGAGKAIGVLTSGGDAQGMNAAVRAVTRMGIYVGAKVFLIYEGYEGLVEGGENIKQANWLSVSNIIQLGGTIIGSARCKAFTTREGRRAAAYNL
VQHGITNLCVIGGDGSLTGANIFRSEWGSLLEELVAEGKISETTARTYSHLNIAGLVGSIDNDFCGTDMTIGTDSALHRIMEVIDAITTTAQSHQRTFVLEVMGR
HCGYLALVSALASGADWLFIPEAPPEDGWENFMCERLGETRSRGSRLNIIIIAEGAIDRNGKPISSSYVKDLVVQRLGFDTRVTVLGHVQRGGTPSAFDRILSSK
MGMEAVMALLEATPDTPACVVTLSGNQSVRLPLMECVQMTKEVQKAMDDKRFDEATQLRGGSFENNWNIYKLLAHQKPPKEKSNFSLAILNVGAPAAGMNAAVRS
AVRTGISHGHTVYVVHDGFEGLAKGQVQEVGWHDVAGWLGRGGSMLGTKRTLPKGQLESIVENIRIYGIHALLVVGGFEAYEGVLQLVEARGRYEELCIVMCVIP
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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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Linkage Studies Top