AutismKB 2.0

Evidence Details for PFKFB1


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Basic Information Top
Gene Symbol:PFKFB1 ( F6PK,HL2K,MGC116715,MGC116717,PFRX )
Gene Full Name: 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1
Band: Xp11.21
Quick LinksEntrez ID:5207; OMIM: 311790; Uniprot ID:F261_HUMAN; ENSEMBL ID: ENSG00000158571; HGNC ID: 8872
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PFKFB1|5207|nucleotide
ATGTCTCCAGAGATGGGAGAGCTCACCCAAACCAGGTTGCAGAAGATCTGGATTCCACACAGCAGCGGCAGCAGCAGGCTGCAACGGAGAAGGGGCTCATCCATA
CCCCAGTTTACCAATTCCCCCACAATGGTGATCATGGTGGGTTTACCAGCTCGAGGCAAGACCTATATCTCCACAAAGCTCACACGATATCTCAACTGGATAGGA
ACACCAACTAAAGTGTTTAATTTAGGCCAGTATCGACGAGAGGCAGTGAGCTACAAGAACTATGAATTCTTTCTTCCAGACAACATGGAAGCCCTGCAAATCAGG
AAGCAGTGCGCCCTGGCAGCCCTGAAGGATGTTCACAACTATCTCAGCCATGAGGAAGGTCATGTTGCGGTTTTTGATGCCACCAACACTACCAGAGAACGACGG
TCACTGATCCTGCAGTTTGCAAAAGAACATGGTTACAAGGTGTTTTTCATTGAGTCCATTTGTAATGACCCTGGCATAATTGCAGAAAACATCAGGCAAGTGAAA
CTTGGCAGCCCTGATTATATAGACTGTGACCGGGAAAAGGTTCTGGAAGACTTTCTAAAGAGAATTGAGTGCTATGAGGTCAACTACCAACCCTTGGATGAGGAA
CTGGACAGCCACCTGTCCTACATCAAGATCTTCGACGTGGGCACACGCTACATGGTGAACCGAGTGCAGGATCACATCCAGAGCCGCACAGTCTACTACCTCATG
AATATCCATGTCACACCTCGCTCCATCTACCTTTGCCGACATGGCGAGAGTGAACTCAACATCAGAGGCCGCATCGGAGGTGACTCTGGCCTCTCAGTTCGCGGC
AAGCAGTATGCCTATGCCCTGGCCAACTTCATTCAGTCCCAGGGCATCAGCTCCCTGAAGGTGTGGACCAGTCACATGAAGAGGACCATCCAGACAGCTGAGGCC
CTGGGTGTCCCCTATGAGCAGTGGAAGGCCCTGAATGAGATTGATGCGGGTGTCTGTGAGGAGATGACCTATGAAGAAATCCAGGAACATTACCCTGAAGAATTT
GCACTGCGAGACCAAGATAAATATCGCTACCGCTATCCCAAGGGAGAGTCCTATGAGGATCTGGTTCAGCGTCTGGAGCCAGTGATAATGGAGCTAGAACGACAG
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>PFKFB1|5207|protein
MSPEMGELTQTRLQKIWIPHSSGSSRLQRRRGSSIPQFTNSPTMVIMVGLPARGKTYISTKLTRYLNWIGTPTKVFNLGQYRREAVSYKNYEFFLPDNMEALQIR
KQCALAALKDVHNYLSHEEGHVAVFDATNTTRERRSLILQFAKEHGYKVFFIESICNDPGIIAENIRQVKLGSPDYIDCDREKVLEDFLKRIECYEVNYQPLDEE
LDSHLSYIKIFDVGTRYMVNRVQDHIQSRTVYYLMNIHVTPRSIYLCRHGESELNIRGRIGGDSGLSVRGKQYAYALANFIQSQGISSLKVWTSHMKRTIQTAEA
LGVPYEQWKALNEIDAGVCEEMTYEEIQEHYPEEFALRDQDKYRYRYPKGESYEDLVQRLEPVIMELERQENVLVICHQAVMRCLLAYFLDKSSDELPYLKCPLH
TVLKLTPVAYGCKVESIYLNVEAVNTHREKPENVDITREPEEALDTVPAHY
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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 (1) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (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
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Linkage Studies Top