AutismKB 2.0

Evidence Details for PFKFB3


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Basic Information Top
Gene Symbol:PFKFB3 ( FLJ37326,IPFK2,PFK2 )
Gene Full Name: 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3
Band: 10p15.1
Quick LinksEntrez ID:5209; OMIM: 605319; Uniprot ID:F263_HUMAN; ENSEMBL ID: ENSG00000170525; HGNC ID: 8874
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PFKFB3|5209|nucleotide
ATGCCCTTCAGGAAAGCCTGTGGGCCAAAGCTGACCAACTCCCCCACCGTCATCGTCATGGTGGGCCTCCCCGCCCGGGGCAAGACCTACATCTCCAAGAAGCTG
ACTCGCTACCTCAACTGGATTGGCGTCCCCACAAAAGTGTTCAACGTCGGGGAGTATCGCCGGGAGGCTGTGAAGCAGTACAGCTCCTACAACTTCTTCCGCCCC
GACAATGAGGAAGCCATGAAAGTCCGGAAGCAATGTGCCTTAGCTGCCTTGAGAGATGTCAAAAGCTACCTGGCGAAAGAAGGGGGACAAATTGCGGTTTTCGAT
GCCACCAATACTACTAGAGAGAGGAGACACATGATCCTTCATTTTGCCAAAGAAAATGACTTTAAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTT
GTGGCCTCCAATATCATGGAAGTTAAAATCTCCAGCCCGGATTACAAAGACTGCAACTCGGCAGAAGCCATGGACGACTTCATGAAGAGGATCAGTTGCTATGAA
GCCAGCTACCAGCCCCTCGACCCCGACAAATGCGACAGGGACTTGTCGCTGATCAAGGTGATTGACGTGGGCCGGAGGTTCCTGGTGAACCGGGTGCAGGACCAC
ATCCAGAGCCGCATCGTGTACTACCTGATGAACATCCACGTGCAGCCGCGTACCATCTACCTGTGCCGGCACGGCGAGAACGAGCACAACCTCCAGGGCCGCATC
GGGGGCGACTCAGGCCTGTCCAGCCGGGGCAAGAAGTTTGCCAGTGCTCTGAGCAAGTTCGTGGAGGAGCAGAACCTGAAGGACCTGCGCGTGTGGACCAGCCAG
CTGAAGAGCACCATCCAGACGGCCGAGGCGCTGCGGCTGCCCTACGAGCAGTGGAAGGCGCTCAATGAGATCGACGCGGGCGTCTGTGAGGAGCTGACCTACGAG
GAGATCAGGGACACCTACCCTGAGGAGTATGCGCTGCGGGAGCAGGACAAGTACTATTACCGCTACCCCACCGGGGAGTCCTACCAGGACCTGGTCCAGCGCTTG
GAGCCAGTGATCATGGAGCTGGAGCGGCAGGAGAATGTGCTGGTCATCTGCCACCAGGCCGTCCTGCGCTGCCTGCTTGCCTACTTCCTGGATAAGAGTGCAGAG
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>PFKFB3|5209|protein
MPFRKACGPKLTNSPTVIVMVGLPARGKTYISKKLTRYLNWIGVPTKVFNVGEYRREAVKQYSSYNFFRPDNEEAMKVRKQCALAALRDVKSYLAKEGGQIAVFD
ATNTTRERRHMILHFAKENDFKAFFIESVCDDPTVVASNIMEVKISSPDYKDCNSAEAMDDFMKRISCYEASYQPLDPDKCDRDLSLIKVIDVGRRFLVNRVQDH
IQSRIVYYLMNIHVQPRTIYLCRHGENEHNLQGRIGGDSGLSSRGKKFASALSKFVEEQNLKDLRVWTSQLKSTIQTAEALRLPYEQWKALNEIDAGVCEELTYE
EIRDTYPEEYALREQDKYYYRYPTGESYQDLVQRLEPVIMELERQENVLVICHQAVLRCLLAYFLDKSAEEMPYLKCPLHTVLKLTPVAYGCRVESIYLNVESVC
THRERSEDAKKGPNPLMRRNSVTPLASPEPTKKPRINSFEEHVASTSAALPSCLPPEVPTQLPGQNMKGSRSSADSSRKH
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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) 1 (1) 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
Linkage Studies Top