AutismKB 2.0

Evidence Details for FBXW5


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Basic Information Top
Gene Symbol:FBXW5 ( DKFZp434B205,Fbw5,MGC20962,RP11-229P13.10 )
Gene Full Name: F-box and WD repeat domain containing 5
Band: 9q34.3
Quick LinksEntrez ID:54461; OMIM: 609072; Uniprot ID:FBXW5_HUMAN; ENSEMBL ID: ENSG00000159069; HGNC ID: 13613
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FBXW5|54461|nucleotide
ATGGACGAGGGCGGCACGCCCCTGCTCCCCGACAGCCTGGTCTACCAGATCTTCCTGAGCCTGGGCCCGGCCGACGTGCTGGCCGCCGGGCTGGTGTGCCGCCAA
TGGCAGGCCGTGTCGCGGGACGAGTTCCTGTGGAGGGAGCAGTTCTACCGCTACTACCAGGTGGCCCGCGACGTGCCCCGACACCCAGCGGCCATGTCCTGGTAC
GAGGAGTTCCAGCGGCTGTATGACACGGTGCCCTGCGTGGAGGTGCAGACGCTGCGGGAACACACAGACCAGGTCCTGCACCTCAGCTTCTCCCATTCCGGGTAC
CAGTTCGCGTCCTGCTCCAAGGACTGCACTGTGAAGATCTGGAGCAACGACCTGACCATCTCGCTGCTGCACAGCGCGGACATGCGGCCCTACAACTGGAGCTAC
ACCCAGTTCTCCCAGTTCAACAAGGACGACTCGCTACTGCTGGCCTCGGGGGTGTTCCTGGGGCCGCACAACTCCTCATCCGGCGAGATTGCTGTCATCAGCCTA
GACTCCTTCGCGCTGCTGTCCCGCGTGCGGAACAAGCCCTATGACGTGTTTGGCTGTTGGCTCACCGAGACCAGCCTCATCTCGGGGAACCTGCACCGCATCGGA
GATATCACCTCCTGCTCGGTGCTGTGGCTCAACAATGCCTTCCAGGATGTGGAGTCAGAGAACGTCAACGTGGTGAAGCGGCTGTTCAAGATCCAGAACCTCAAT
GCCAGCACCGTCCGCACGGTGATGGTGGCCGACTGCAGCCGCTTCGACAGCCCTGACCTGCTGCTGGAAGCCGGTGACCCGGCCACGTCCCCCTGCCGCATCTTT
GACCTGGGCAGCGACAACGAGGAGGTGGTGGCTGGCCCGGCCCCCGCCCACGCCAAGGAGGGCTTGCGGCACTTTCTGGACCGCGTGCTGGAGGGGCGGGCGCAG
CCACAGCTGTCGGAGCGCATGCTAGAGACCAAGGTGGCCGAGCTGCTGGCCCAGGGCCACACCAAGCCACCCGAGCGCAGTGCCACAGGCGCCAAGAGCAAGTAC
CTCATCTTCACCACTGGCTGCCTCACCTACTCCCCACACCAGATCGGCATCAAGCAGATCCTGCCACACCAGATGACCACGGCAGGGCCCGTGCTGGGTGAGGGC
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>FBXW5|54461|protein
MDEGGTPLLPDSLVYQIFLSLGPADVLAAGLVCRQWQAVSRDEFLWREQFYRYYQVARDVPRHPAAMSWYEEFQRLYDTVPCVEVQTLREHTDQVLHLSFSHSGY
QFASCSKDCTVKIWSNDLTISLLHSADMRPYNWSYTQFSQFNKDDSLLLASGVFLGPHNSSSGEIAVISLDSFALLSRVRNKPYDVFGCWLTETSLISGNLHRIG
DITSCSVLWLNNAFQDVESENVNVVKRLFKIQNLNASTVRTVMVADCSRFDSPDLLLEAGDPATSPCRIFDLGSDNEEVVAGPAPAHAKEGLRHFLDRVLEGRAQ
PQLSERMLETKVAELLAQGHTKPPERSATGAKSKYLIFTTGCLTYSPHQIGIKQILPHQMTTAGPVLGEGRGSDAFFDALDHVIDIHGHIIGMGLSPDNRYLYVN
SRAWPNGAVVADPMQPPPIAEEIDLLVFDLKTMREVRRALRAHRAYTPNDECFFIFLDVSRDFVASGAEDRHGYIWDRHYNICLARLRHEDVVNSVVFSPQEQEL
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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 (2) 1 (3) 0 (0) 0 (0) 0 (2) 0 (1) 0 (0) 0 (0) 2 (8)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top