Download file example [#1]



Input variants

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



Comparison CNV size with other CNVs databases


GO term annotation


Gene Ontology

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Pathway analysis

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Gene-disease association

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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

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Overlap with disease & non-disease genes

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Disease-associated variants

De novo variants (denovo-db)


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

Disease target-genes from regulatory elements

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Disease evidence

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Disease & non-disease target genes from overlapping regulatory elements

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Overlapping enhancers

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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