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.phenotype}}{{item.phenotypeMimNumber}}{{item.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.name}}{{item.mutations}}{{item.dbSnps}}
Control Population Gene Summary (gnomAD database){{gnomADGeneRes.symbol}}Open on the gnomAD website{{symbol}}
CategoryExp. no. variantsObs. no. variantsContraint metrics
Synonymous{{ gnomADGeneRes.syn.exp.toFixed(1) }}{{ gnomADGeneRes.syn.obs }}Z = {{ gnomADGeneRes.syn.z.toFixed(2) }}o/eo/e (with 90% CI) = o/e = observed / expected. If the upper bound of the Loss-of-function o/e CI < 0.35, then there is a high likelihood of intolerance of loss-of-function/haploinsufficiency  = {{ gnomADGeneRes.syn.oe.toFixed(2) }}
({{ gnomADGeneRes.syn.oeLower.toFixed(2) }} - {{ gnomADGeneRes.syn.oeUpper.toFixed(2) }})
01
Missense{{ gnomADGeneRes.mis.exp.toFixed(1) }}{{ gnomADGeneRes.mis.obs }}Z = {{ gnomADGeneRes.mis.z.toFixed(2) }}o/eo/e (with 90% CI) = o/e = observed / expected. If the upper bound of the Loss-of-function o/e CI < 0.35, then there is a high likelihood of intolerance of loss-of-function/haploinsufficiency = {{ gnomADGeneRes.mis.oe.toFixed(2) }}
({{ gnomADGeneRes.mis.oeLower.toFixed(2) }} - {{ gnomADGeneRes.mis.oeUpper.toFixed(2) }})
01
LoF{{ gnomADGeneRes.lof.exp.toFixed(1) }}{{ gnomADGeneRes.lof.obs }}pLIpLI = this metric estimates the probability that a gene falls into the class of = {{ gnomADGeneRes.lof.pLI.toFixed(2) }}o/eo/e (with 90% CI) = o/e = observed / expected. If the upper bound of the Loss-of-function o/e CI < 0.35, then there is a high likelihood of intolerance of loss-of-function/haploinsufficiency  = {{ gnomADGeneRes.lof.oe.toFixed(2) }}
({{ gnomADGeneRes.lof.oeLower.toFixed(2) }} - {{ gnomADGeneRes.lof.oeUpper.toFixed(2) }})
01

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.homCount}}
Allele frequency{{gnomad.alleleFrequency.toFixed(6)}}
Gene

{{gene.symbol}}

No matches found

Control Population Gene Summary {{exacGeneRes.symbol}} (ExAC Gene Table)Open on the ExAC 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

    Single-Nucleotide Variant Functional PredictionChr6:99365567 T>C
    Prediction toolScore / PredictionRank Score 
    CADD phred Uses 63 annotations (949 features).{{ dbNSFP.scores.CADD.phred }}Range = 0 (least damaging) to 50 (most damaging)01{{ dbNSFP.scores.CADD.rankscore.toFixed(4) }}
    REVEL Ensemble method of 13 tools.{{ dbNSFP.scores.REVEL.score }}Range = 0 (least damaging) to 1 (most damaging)01{{ dbNSFP.scores.REVEL.rankscore.toFixed(4) }}
    M-CAP Uses conservation data and trained on mutations linked to Mendelian diseases.{{ dbNSFP.scores.MCAP.prediction }}Possible scores are: Tolerated or Damaging01{{ dbNSFP.scores.MCAP.rankscore.toFixed(4) }}
    Polyphen-2 HumDiv Uses eight sequence-based and three structure-based predictive features. Trained with Mendelian disease mutations and SNVs from close mammalian homolog proteins.{{ dbNSFP.scores.Polyphen2HDIV.prediction }}Possible scores are: Benign, Possibly Damaging, and Probably Damaging01{{ dbNSFP.scores.Polyphen2HDIV.rankscore.toFixed(4) }}
    Polyphen-2 HumVar  Uses eight sequence-based and three structure-based predictive features. Trained with disease associated and common SNVs.{{ dbNSFP.scores.Polyphen2HVAR.prediction }}Possible scores are: Benign, Possibly Damaging, and Probably Damaging01{{ dbNSFP.scores.Polyphen2HVAR.rankscore.toFixed(4) }}
    GERP++ Uses multiple alignments and phylogenetic tree of 34 mammals.{{ dbNSFP.scores['GERP++RS'].score }}-12.3 (least conserved) to 6.17 (most conserved)01{{ dbNSFP.scores["GERP++RS"].rankscore.toFixed(4) }}
    phyloP 100way Vertebrate Uses multiple alignments and phylogenetic tree of 100 vertebrates.{{ dbNSFP.scores.phyloP100wayVertebrate.score }}Range =- 20.0 (least conserved) to 10.003 (most conserved)01{{ dbNSFP.scores.phyloP100wayVertebrate.rankscore.toFixed(4) }}
    phyloP 30way Mammalian{{ dbNSFP.phyloP30wayMammalian.score }}01{{ dbNSFP.scores.phyloP30wayMammalian.rankscore.toFixed(4) }}

    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)Clinical SignificanceReview Status
    {{row.title}}{{row.chr ? 'Chr' + row.chr + ':' : ''}}{{row.start}}{{row.start}}-{{row.stop}}{{row.condition}}{{row.significance.description}}{{row.significance.reviewStatus}}
    {{row.title}}{{row.chr ? 'Chr' + row.chr + ':' : ''}}{{row.start}}{{row.start}}-{{row.stop}}{{row.condition}}{{row.significance.description}}{{row.significance.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}}