[[_text]]
Chromosomal location:
Gene name or SNP id:
Gene name or SNP id:
SNV
MNV
CNV
SV
INDEL
MNV
CNV
SV
INDEL
MAF
MAF
MAF
MAF
MAF
MAF
MAF
MAF
MAF
SIFT
Polyphen
PhyloP
PhastCons
Consequence Type
Clinvar
| Accession | Clinical Significance | Traits | Gene Names | Review Status |
|---|---|---|---|---|
| {{item.accession}} | {{item.clinicalSignificance}} |
{{trait}} |
{{geneName}} |
{{item.reviewStatus}} |
Cosmic
| Mutation Id | Primary Site | Site Subtype | Primary Histology | Histology Subtype | Sample Source | Tumour Origin | Gene Name | Mutation Somatic Status |
|---|---|---|---|---|---|---|---|---|
| {{item.mutationId}} | {{item.primarySite}} | {{item.siteSubtype}} | {{item.primaryHistology}} | {{item.histologySubtype}} | {{item.sampleSource}} | {{item.tumourOrigin}} | {{item.geneName}} | {{item.mutationSomaticStatus}} |
| Source | Score |
|---|---|
| {{item.source}} | {{item.score}} |
| Source | Score |
|---|---|
| {{item.source}} | {{item.score}} |
Gene: {{geneObj.name}}
{{geneObj.name}} - {{geneObj.description}}Number of Variants - {{totalVariants}}
Genome Browser - {{geneObj.chromosome}}:{{geneObj.start}}-{{geneObj.end}}
Transcripts
| Name | Ensembl ID | Biotype | Location | Coding | cDNA | CDS Length | Annotation Flags |
|---|---|---|---|---|---|---|---|
| {{transcript.name}} | {{transcript.id}} | {{transcript.biotype}} | {{transcript.chromosome}}:{{transcript.start}}-{{transcript.end}} | {{transcript.genomicCodingStart}}-{{transcript.genomicCodingEnd}} | {{transcript.cdnaCodingStart}}-{{transcript.cdnaCodingEnd}} | {{transcript.cdsLength}} | {{transcript.annotationFlags}} |
{{title}}
Genotypes and files
{{project.name}}
| Study | Date | Files | Samples | Jobs | Individuals |
|---|---|---|---|---|---|
| {{item.name}} | {{item.creationDate}} | {{item.files}} | {{item.samples}} | {{item.jobs}} | {{item.individuals}} |
{{study.name}}
{{errorMessage}}
BiERapp v2.0.0
Overview
Welcome to the gene/variant prioritization tool of the BIER (the Team of BioInformatic for Rare Diseases). This interactive tool allows finding genes affected by deleterious variants that segregate along family pedigrees, case-controls or sporadic samples.
Supported by
Note:
{{versionNav}}
BierApp web application makes an intensive use of the HTML5 standard and other cutting-edge web technologies such as Web Components, so only modern web browsers are fully supported, these include Chrome 36+, Firefox 32+, IE 10+, Safari 7+ and Opera 24+.