Evidence Details for PFKL
Basic Information Top
Gene Symbol: | PFKL ( DKFZp686G1648,DKFZp686L2097,FLJ30173,FLJ40909,PFK-B ) |
---|---|
Gene Full Name: | phosphofructokinase, liver |
Band: | 21q22.3 |
Quick Links | Entrez 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
Show »
ATGGCCGCGGTGGACCTGGAGAAGCTGCGGGCGTCGGGCGCGGGCAAGGCCATCGGCGTCCTGACCAGCGGCGGCGACGCGCAAGGCATGAACGCTGCTGTCCGG
GCTGTGACGCGCATGGGCATTTATGTGGGTGCCAAAGTCTTCCTCATCTACGAGGGCTATGAGGGCCTCGTGGAGGGAGGTGAGAACATCAAGCAGGCCAACTGG
CTGAGCGTCTCCAACATCATCCAGCTGGGCGGCACTATCATTGGCAGCGCTCGCTGCAAGGCCTTTACCACCAGGGAGGGGCGCCGGGCAGCGGCCTACAACCTG
GTCCAGCACGGCATCACCAACCTGTGCGTCATCGGCGGGGATGGCAGCCTCACAGGTGCCAACATCTTCCGCAGCGAGTGGGGCAGCCTGCTGGAGGAGCTGGTG
GCGGAAGGTAAGATCTCAGAGACTACAGCCCGGACCTACTCGCACCTGAACATCGCGGGCCTAGTGGGCTCCATCGATAACGACTTCTGCGGCACCGACATGACC
ATCGGCACGGACTCGGCCCTCCACCGCATCATGGAGGTCATCGATGCCATCACCACCACTGCCCAGAGCCACCAGAGGACCTTCGTGCTGGAAGTGATGGGCCGG
CACTGCGGGTACCTGGCGCTGGTATCTGCACTGGCCTCAGGGGCCGACTGGCTGTTCATCCCCGAGGCTCCACCCGAGGACGGCTGGGAGAACTTCATGTGTGAG
AGGCTGGGTGAGACTCGGAGCCGTGGGTCCCGACTGAACATCATCATCATCGCTGAGGGTGCCATTGACCGCAACGGGAAGCCCATCTCGTCCAGCTACGTGAAG
GACCTGGTGGTTCAGAGGCTGGGCTTCGACACCCGTGTAACTGTGCTGGGCCACGTGCAGCGGGGAGGGACGCCCTCTGCCTTCGACCGGATCCTGAGCAGCAAG
ATGGGCATGGAGGCGGTGATGGCGCTGCTGGAAGCCACGCCTGACACGCCGGCCTGCGTGGTCACCCTCTCGGGGAACCAGTCAGTGCGGCTGCCCCTCATGGAG
TGCGTGCAGATGACCAAGGAAGTGCAGAAAGCCATGGATGACAAGAGGTTTGACGAGGCCACCCAGCTCCGTGGTGGGAGCTTCGAGAACAACTGGAACATTTAC
Show »
>PFKL|5211|protein
MAAVDLEKLRASGAGKAIGVLTSGGDAQGMNAAVRAVTRMGIYVGAKVFLIYEGYEGLVEGGENIKQANWLSVSNIIQLGGTIIGSARCKAFTTREGRRAAAYNL
VQHGITNLCVIGGDGSLTGANIFRSEWGSLLEELVAEGKISETTARTYSHLNIAGLVGSIDNDFCGTDMTIGTDSALHRIMEVIDAITTTAQSHQRTFVLEVMGR
HCGYLALVSALASGADWLFIPEAPPEDGWENFMCERLGETRSRGSRLNIIIIAEGAIDRNGKPISSSYVKDLVVQRLGFDTRVTVLGHVQRGGTPSAFDRILSSK
MGMEAVMALLEATPDTPACVVTLSGNQSVRLPLMECVQMTKEVQKAMDDKRFDEATQLRGGSFENNWNIYKLLAHQKPPKEKSNFSLAILNVGAPAAGMNAAVRS
AVRTGISHGHTVYVVHDGFEGLAKGQVQEVGWHDVAGWLGRGGSMLGTKRTLPKGQLESIVENIRIYGIHALLVVGGFEAYEGVLQLVEARGRYEELCIVMCVIP
Show »
MAAVDLEKLRASGAGKAIGVLTSGGDAQGMNAAVRAVTRMGIYVGAKVFLIYEGYEGLVEGGENIKQANWLSVSNIIQLGGTIIGSARCKAFTTREGRRAAAYNL
VQHGITNLCVIGGDGSLTGANIFRSEWGSLLEELVAEGKISETTARTYSHLNIAGLVGSIDNDFCGTDMTIGTDSALHRIMEVIDAITTTAQSHQRTFVLEVMGR
HCGYLALVSALASGADWLFIPEAPPEDGWENFMCERLGETRSRGSRLNIIIIAEGAIDRNGKPISSSYVKDLVVQRLGFDTRVTVLGHVQRGGTPSAFDRILSSK
MGMEAVMALLEATPDTPACVVTLSGNQSVRLPLMECVQMTKEVQKAMDDKRFDEATQLRGGSFENNWNIYKLLAHQKPPKEKSNFSLAILNVGAPAAGMNAAVRS
AVRTGISHGHTVYVVHDGFEGLAKGQVQEVGWHDVAGWLGRGGSMLGTKRTLPKGQLESIVENIRIYGIHALLVVGGFEAYEGVLQLVEARGRYEELCIVMCVIP
Show »
Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 | aCGH | ASD | - | - | - | - | 29 | - | 29 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.