AutismKB 2.0

Evidence Details for PFKFB2


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Basic Information Top
Gene Symbol:PFKFB2 ( DKFZp781D2217,MGC138308,MGC138310,PFK-2/FBPase-2 )
Gene Full Name: 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2
Band: 1q32.1
Quick LinksEntrez ID:5208; OMIM: 171835; Uniprot ID:F262_HUMAN; ENSEMBL ID: ENSG00000123836; HGNC ID: 8873
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PFKFB2|5208|nucleotide
ATGTCTGGGGCATCTTCCTCAGAACAGAACAACAACAGCTATGAAACCAAAACCCCAAATCTTCGAATGTCAGAGAAGAAATGTTCATGGGCCTCCTACATGACC
AACTCCCCGACTCTGATCGTTATGATTGGTTTGCCAGCCCGGGGTAAAACCTACGTGTCCAAGAAACTAACACGCTACCTCAACTGGATTGGAGTCCCCACCAAA
GTGTTTAATCTTGGGGTGTATCGGCGTGAAGCAGTCAAGTCCTATAAGTCCTACGACTTCTTTCGGCATGACAATGAGGAGGCCATGAAGATCCGCAAACAGTGT
GCTCTGGTGGCGCTGGAAGATGTTAAGGCGTATCTCACTGAGGAGAATGGTCAGATTGCGGTGTTTGATGCCACCAATACAACCCGGGAGAGGAGGGACATGATT
TTGAACTTTGCTGAACAGAATTCCTTCAAGGTATTCTTTGTGGAATCCGTCTGTGATGATCCTGATGTCATTGCTGCCAATATTCTGGAGGTTAAGGTATCAAGC
CCTGACTATCCTGAAAGGAACAGAGAGAACGTGATGGAGGACTTCCTGAAGAGAATTGAATGCTACAAAGTTACCTACCGACCTCTTGACCCAGACAACTATGAC
AAGGATCTTTCTTTCATCAAGGTGATAAACGTGGGCCAGCGATTTTTAGTCAACAGAGTCCAGGACTACATCCAGAGCAAGATAGTCTACTACCTCATGAATATC
CACGTCCAGCCTCGCACCATTTACCTTTGCCGGCATGGAGAAAGCGAGTTCAATCTCTTGGGGAAGATTGGGGGTGACTCTGGCCTCTCGGTGCGGGGAAAGCAG
TTTGCCCAAGCTCTAAGGAAATTTCTGGAGGAACAGGAAATAACAGACCTCAAAGTGTGGACAAGCCAGTTGAAGAGGACCATACAGACTGCTGAATCTCTCGGG
GTGCCCTATGAGCAGTGGAAGATTCTGAATGAGATTGATGCTGGTGTGTGTGAAGAGATGACCTATGCAGAGATTGAGAAACGGTACCCAGAAGAGTTTGCACTT
CGAGATCAAGAGAAGTATCTGTATCGATATCCTGGTGGGGAGTCATACCAGGACCTGGTGCAGCGGCTGGAGCCTGTCATCATGGAGCTGGAACGTCAGGGCAAT
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>PFKFB2|5208|protein
MSGASSSEQNNNSYETKTPNLRMSEKKCSWASYMTNSPTLIVMIGLPARGKTYVSKKLTRYLNWIGVPTKVFNLGVYRREAVKSYKSYDFFRHDNEEAMKIRKQC
ALVALEDVKAYLTEENGQIAVFDATNTTRERRDMILNFAEQNSFKVFFVESVCDDPDVIAANILEVKVSSPDYPERNRENVMEDFLKRIECYKVTYRPLDPDNYD
KDLSFIKVINVGQRFLVNRVQDYIQSKIVYYLMNIHVQPRTIYLCRHGESEFNLLGKIGGDSGLSVRGKQFAQALRKFLEEQEITDLKVWTSQLKRTIQTAESLG
VPYEQWKILNEIDAGVCEEMTYAEIEKRYPEEFALRDQEKYLYRYPGGESYQDLVQRLEPVIMELERQGNVLVISHQAVMRCLLAYFLDKGADELPYLRCPLHTI
FKLTPVAYGCKVETIKLNVEAVNTHRDKPTAAETTLAVRRRPSAASLMLPC
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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 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top