AutismKB 2.0

Evidence Details for FBXO4


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Basic Information Top
Gene Symbol:FBXO4 ( DKFZp547N213,FBX4,FLJ10141 )
Gene Full Name: F-box protein 4
Band: 5p13.1
Quick LinksEntrez ID:26272; OMIM: 609090; Uniprot ID:FBX4_HUMAN; ENSEMBL ID: ENSG00000151876; HGNC ID: 13583
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FBXO4|26272|nucleotide
ATGGCGGGAAGCGAGCCGCGCAGCGGAACAAACTCGCCGCCGCCGCCCTTCAGCGACTGGGGCCGCCTGGAGGCGGCCATCCTCAGCGGCTGGAAGACCTTCTGG
CAGTCAGTGAGCAAGGAGAGGGTGGCGCGTACGACCTCACGGGAGGAGGTGGATGAGGCGGCCAGCACCCTGACGCGGCTGCCGATTGATGTACAGCTATATATT
TTGTCCTTTCTTTCACCTCATGATCTGTGTCAGTTGGGAAGTACAAATCATTATTGGAATGAAACTGTAAGAGATCCAATTCTGTGGAGATACTTTTTGTTGAGG
GATCTTCCTTCTTGGTCTTCTGTTGACTGGAAGTCTCTTCCAGATCTAGAAATCTTAAAAAAGCCTATATCTGAGGTCACTGATGGTGCATTTTTTGACTACATG
GCAGTCTATAGAATGTGCTGTCCATACACAAGAAGAGCTTCAAAATCCAGCCGTCCTATGTATGGAGCTGTCACTTCTTTTTTACACTCCCTGATCATTCAGAAT
GAACCACGATTTGCTATGTTTGGACCAGGTTTGGAAGAATTGAATACCTCTTTGGTGTTGAGCTTGATGTCTTCAGAGGAACTTTGCCCAACAGCTGGTTTGCCT
CAGAGGCAGATTGATGGTATTGGATCAGGAGTCAATTTTCAGTTGAACAACCAACATAAATTCAACATTCTAATCTTATATTCAACTACCAGAAAGGAAAGAGAT
AGAGCAAGGGAAGAGCATACAAGTGCAGTTAACAAGATGTTCAGTCGACACAATGAAGGTGATGATCAACAAGGAAGCCGGTACAGTGTGATTCCACAGATTCAA
AAAGTGTGTGAAGTTGTAGATGGGTTCATCTATGTTGCAAATGCTGAAGCTCATAAAAGACATGAATGGCAAGATGAATTTTCTCATATTATGGCAATGACAGAT
CCAGCCTTTGGGTCTTCGGGAAGACCATTGTTGGTTTTATCTTGTATTTCTCAAGGGGATGTAAAAAGAATGCCCTGTTTTTATTTGGCTCATGAGCTGCATCTG
AATCTTCTAAATCACCCATGGCTGGTCCAGGATACAGAGGCTGAAACTCTGACTGGTTTTTTGAATGGCATTGAGTGGATTCTTGAAGAAGTGGAATCTAAGCGT
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>FBXO4|26272|protein
MAGSEPRSGTNSPPPPFSDWGRLEAAILSGWKTFWQSVSKERVARTTSREEVDEAASTLTRLPIDVQLYILSFLSPHDLCQLGSTNHYWNETVRDPILWRYFLLR
DLPSWSSVDWKSLPDLEILKKPISEVTDGAFFDYMAVYRMCCPYTRRASKSSRPMYGAVTSFLHSLIIQNEPRFAMFGPGLEELNTSLVLSLMSSEELCPTAGLP
QRQIDGIGSGVNFQLNNQHKFNILILYSTTRKERDRAREEHTSAVNKMFSRHNEGDDQQGSRYSVIPQIQKVCEVVDGFIYVANAEAHKRHEWQDEFSHIMAMTD
PAFGSSGRPLLVLSCISQGDVKRMPCFYLAHELHLNLLNHPWLVQDTEAETLTGFLNGIEWILEEVESKRAR

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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) 2 (4) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Yonan, 2003 USA microsatellite-based genomic screenPDD 345 - 345 - - - -
Liu, 2001 USA microsatellite-based genomic screenautism, ASD 110 - 110 - - - -
Buxbaum, 2004 USA microsatellite-based genomic screenautism 115 - 115 - - - -
Ylisaukko-oja, 2006 USA, Finland microsatellite-based genomic screenASD 314 - 314 - - - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
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.

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018