Imagine institute

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Input variants


CNVscore's prediction:


To refresh the app after each row selection, you need to click on the button "Run".

Overlap with reference CNV databases (Link)

Overlap with disease associated genes and SNV variants (Link)

Mouse model information (Link)

Clinical information (Link)

Overlap with regulatory elements and TADs (Link)

Biomedical literature (Link)

Comparison CNV size with other CNVs databases


GO term annotation

Gene Ontology

Pathway analysis

Gene-disease association


Overlap with CNV Syndromes

Overlap with pathogenic/likely pathogenic CNVs (DECIPHER & ClinVar)

Overlap with non-pathogenic CNVs

Overlap with disease-associated genes from different databases

Overlap with disease genes

Disease evidence

Overlap with disease & non-disease genes

Disease-associated variants

De novo variants (denovo-db)


Intersection of disease target-genes databases (from overlapping regulatory elements)

Disease target-genes from regulatory elements

Disease evidence

Disease & non-disease target genes from overlapping regulatory elements

Overlapping enhancers

Conservation - Phast100way histogram

Conservation - Phast46way placental histogram

Conservation - Phast46way primates histogram

Overlapping micro-RNAs (miRNAs)

Overlapping Transcription factors (TFs)

Overlapping long noncoding RNAs (lncRNAs)

Overlapping Topologically Associating Domains (TADs)


Protein interaction network

Filter by gene

Color legend

Nº of protein-protein interactions


Input variants

Filter by size

Filter by pathogenicity score

Exclude benign CNVs

Filter by number of genes

List of CNVs


Filter options:

Display by:

RNA Expression (GTEx)

Configuration:

Reference database:

Tissue-specific enrichment analysis (TSEA)

Filter options:

Filter by gene:
Filter by tissue:

Protein Expression (Human Protein Atlas)


Top 10 most frequent HP terms (gene annotation)

Top 10 most frequent anatomical entities (gene annotation)

Indicate here phenotype terms of the patient

Find HP terms in a clinical text

Suggested phenotype terms

Gene-disease associations

HP terms associated with genes

HP terms associated with diseases

Anatomical entities associated with HP terms

DECIPHER CNVs - Phenotypic similarity


Mouse phenotypes associated with genes

Orthologous genes associated with phenotypes in mouse (MGI)


Documentation


Frequency of genetic and phenotypic entities in titles and abstracts

Pubmed articles associated with the region

Abstract

Entities found

Co-occurrence network