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 OMIMPOLR2FOpen 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/e  = {{ 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/e = {{ 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 }}pLIThis metric estimates the probability that a gene falls into the class of LoF-haploinsufficient genes, where pLI > 0.9 means high likelihood of intolerance of haploinsufficiency. = {{ 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

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

No matches found

Population Allele Frequencies (ExAC database)Open 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

    Geno2MP Total Heterozygote CountPOLR2F{{geno2mpSummary.hetCountSum}}
    Geno2MP Total Homozygote CountPOLR2F{{geno2mpSummary.homCountSum}}
    Disease Population (Geno2MP database)POLR2FOpen on the Geno2MP website
    VariantrsIDHPO Profiles# het# hom
    {{item.chr}}:{{item.pos}} {{item.ref}}>{{item.alt}}{{item.varId == '.' ? 'NA' : item.varId}}{{item.hpoCount}}{{item.hetCount}}{{item.homCount}}

    No matches found

    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 ClinVarPOLR2FOpen on the NCBI ClinVar website
    VariationLocationCondition(s)Clinical SignificanceReview Status
    {{row.title}}{{ row.title }}{{row.chr ? 'Chr' + row.chr + ':' : ''}}{{row.start}}{{row.start}}-{{row.stop}}{{row.condition}}{{row.significance.description}}{{row.significance.reviewStatus}}
    {{row.title}}{{ 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 POLR2F

    Copy Number Variation in Control Population (DGV Database){{dgvRes.chr + ':' + dgvRes.pos}}POLR2F
    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

    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}}