Human Gene Description (OMIM){{omimRes.title}}Open on the OMIM website

MIM number: {{omimRes.mimNumber}} 

No summary description provided by OMIM

Gene-Phenotype RelationshipsOMIMOpen on the OMIM website
PhenotypePhenotype MIM numberInheritance
{{item.phenotypeMap.phenotype}}{{item.phenotypeMap.phenotypeMimNumber}}{{item.phenotypeMap.phenotypeInheritance}}

No OMIM gene-phenotype relationships found

Reported Alleles from OMIMFBXL4Open on the OMIM website

No OMIM allelic variants found

PhenotypeMutationdbSNP Entry in dbSNP
{{item.allelicVariant.name}}{{item.allelicVariant.mutations}}{{item.allelicVariant.dbSnps}}
Control Population Gene Summary {{exacGeneRes.symbol}} (ExAC Gene Table)Open on the ExAC websiteOpen on the gnomAD website{{symbol}}

No matches found

Population Allele Frequencies (ExAC database)Chr6:99365567 T>COpen on the ExAC website
Allele count{{exacRes.ExACalleleCount}}
Allele number{{exacRes.ExACalleleNum}}
Homozygous count{{exacRes.ExAChomCount}}
Allele frequency{{exacRes.ExACalleleFreq}}
Gene

    {{symbol}}

    No matches found

    Population Allele Frequencies (gnomAD database)Chr6:99365567 T>COpen on the gnomAD website
    Allele Count{{gnomad.allelecount}}
    Allele Number{{gnomad.allelenumber}}
    Homozygous count{{gnomad.homozygotes}}
    Allele frequency{{gnomad.allelefrequency}}
    Gene {{gnomad.gene}}

    No matches found

    Disease Population (Geno2MP database)Chr6:99365567 T>COpen on the Geno2MP website
    Number of HPO profiles HPO:Human Phenotype Ontology{{geno2mpRes[0].hpoCount}}
    Homozygous count{{geno2mpRes[0].homCount}}
    Heterozygous count{{geno2mpRes[0].hetCount}}
    Genes{{geno2mpRes[0].genes}}
    Functional annotation{{geno2mpRes[0].funcAnnot}}

    No matches found

    Gene-Phenotype Relationships (Geno2MP)Chr6:99365567 T>C

    No matches found

    Sample StatusBroad TermMedium TermNarrow Term
    {{item.sampleStatus}}{{item.broadTerm}}{{item.mediumTerm}}{{item.narrowTerm}}
    BenignClinVar{{clinVar.summary['Benign']}}
    Likely benignClinVar{{clinVar.summary['Likely benign']}}
    PathogenicClinVar{{clinVar.summary['Pathogenic']}}
    Likely pathogenicClinVar{{clinVar.summary['Likely pathogenic']}}
    Risk factorClinVar{{clinVar.summary['Risk factor']}}
    Reported Alleles from ClinVarFBXL4 / Chr6:99365567 T>COpen on the NCBI ClinVar website
    VariationLocationCondition(s)FrequencyClinical SignificanceReview Status
    {{row.variation}}{{row.chrom ? 'Chr' + row.chrom + ':' : ''}}{{row.location}}{{row.cond}}{{row.frequency}}{{row.significance}}{{row.reviewStatus}}
    {{row.variation}}{{row.chrom ? 'Chr' + row.chrom + ':' : ''}}{{row.location}}{{row.cond}}{{row.frequency}}{{row.significance}}{{row.reviewStatus}}

    No ClinVar variants found for FBXL4

    Copy Number Variation in Control Population (DGV Database){{dgvRes.chr + ':' + dgvRes.pos}}FBXL4
    PositionSizeTypeSubtypeFrequencyGainLossSample SizeReferences Genes
    {{item.chr}}
    {{item.start}}
    {{item.end}}
    {{item.end - item.start}}{{item.varType}}{{item.varSubType}}{{(item.freq || (item.observedgains + item.observedlosses) / item.sampleSize).toFixed(8)}}{{item.observedgains}}{{item.observedlosses}}{{item.sampleSize}}{{item.pubmedId}}

    {{aGene}}

    No matches found

    Common Copy Number Variants (DECIPHER Database){{decipherRes.chr + ':' + decipherRes.pos}}

    No matches found

    PositionSizeFrequencyDeletionDuplicationSample SizeStudy
    {{item.chrom}}
    {{item.start}}
    {{item.end}}
    {{item.end - item.start}}{{(item.freq || (item.delObs+item.dupObs)/item.sampleSize).toFixed(8)}}{{item.delObs}}{{item.dupObs}}{{item.sampleSize}}{{item.study}}
    Gene Function Table{{orthologSymbol}}

    No matches found

     gene
    HomologDIOPT ScoreExpressionMolecular functionCellular componentBiological process
    Human

    {{orthologSymbol}}

    {{orthologSymbol}}

    NA

    No data available

    • {{item.organ}}

    No term based on experiment

    • {{item}}
    Rat

    {{row.geneSymbol}}

    {{row.dioptScore}}/11

    No data available

    • {{item.name}}

    No term based on experiment

    • {{item}}
    Mouse

    {{row.geneSymbol}}

    {{row.dioptScore}}/13

    No data available

    No tissue expressed in wild-type

    • {{item.description}}

    No term based on experiment

    • {{item}}
    Zebrafish

    {{row.geneSymbol}}

    {{row.dioptScore}}/12

    No available data

    No structure expressed in wild-type

    • {{item.description}}

    No term based on experiment

    • {{item}}
    Drosophila

    {{row.geneSymbol}}

    {{row.dioptScore}}/12
    • {{item.description}}

    No FlyAtlas organ/tissue expression data available.

    No term based on experiment

    • {{item}}
    C Elegans

    {{row.geneSymbol}}

    {{row.dioptScore}}/12

    No term based on experiment

    • {{item}}
    Budding Yeast

    {{row.geneSymbol}}

    {{row.dioptScore}}/11

    No term based on experiment

    • {{item}}
    Fission Yeast

    {{row.geneSymbol}}

    {{row.dioptScore}}/8

    No term based on experiment

    • {{item}}
    Human Gene Protein DomainsFor all organism protein domains, please visit DIOPT siteDIOPT v6{{alignSymbol}}Open on the DIOPT website
    IndexDomain nameDomain startDomain stopDomain descriptionProtein IDExternal ID
    {{row.index}}{{row.domainName}}{{row.domainStart}}{{row.domainStop}}{{row.domainDescription}}{{row.proteinId}}{{row.externalId}}
    Multiple Protein AlignmentDIOPT v6{{alignSymbol}}Open on the DIOPT website

    No alignment data available

    {{row.species}}{{row.sIdx}} {{ch}}[{{row.endIdx}}]
    {{row.mark}}