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 OMIMOpen on the OMIM website

No OMIM allelic variants found

PhenotypeMutationdbSNP Entry in dbSNP
{{item.allelicVariant.name}}{{item.allelicVariant.mutations}}{{item.allelicVariant.dbSnps}}
Control Population (ExAC database)Chr6:99365567 T>C
Homozygous count{{exacRes.ExAChomCount}}
Hemizygous count{{exacRes.ExAChemiCount}}
Allele count{{exacRes.ExACalleleCount}}
Allele number{{exacRes.ExACalleleNum}}
Allele frequency{{exacRes.ExACalleleFreq}}
Genes
  • {{symbol}} (HGNC:{{exacRes.ExAChgncIds[$index]}})

No matches found

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

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

No data available

  • {{item.name}}

No term based on experiment

  • {{item}}
Mouse

{{row.geneSymbol}}

{{row.dioptScore}}

No data available

No tissue expressed in wild-type

  • {{item.description}}

No term based on experiment

  • {{item}}
Zebrafish

{{row.geneSymbol}}

{{row.dioptScore}}

No available data

No structure expressed in wild-type

  • {{item.description}}

No term based on experiment

  • {{item}}
Drosophila

{{row.geneSymbol}}

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

No FlyAtlas organ/tissue expression data available.

No term based on experiment

  • {{item}}
C Elegans

{{row.geneSymbol}}

{{row.dioptScore}}

No term based on experiment

  • {{item}}
Budding Yeast

{{row.geneSymbol}}

{{row.dioptScore}}

No term based on experiment

  • {{item}}
Fission Yeast

{{row.geneSymbol}}

{{row.dioptScore}}

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}}