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Analyses
Networks
: tissue-specific gene networks (GIANT)
Modules
: functional module detection (large gene lists)
Sei
: extended regulatory and chromatin effects of variants (2021)
Beluga
: chromatin effects of variants (2019)
Seqweaver
: post-transcriptional variant effects
In silico mutagenesis
: discover regulatory features of sequences
ExPecto
: tissue-specific gene expression effects of variants
ExPecto SC
: cell-type-specific gene expression effects for mutations
GWAS
: GWAS reprioritization (NetWAS)
ASD Browser
: predicted effects of ASD proband mutations
Resources
Data sources
Downloads
HumanBase API
Documentation
About
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BBS5
Bardet-Biedl syndrome 5
MIM: 603650
Entrez: 129880
Ensembl: ENSG00000163093
HGNC: HGNC:970
UniProtKB: Q8N3I7
UniProtKB: A0A0S2Z626
Gtex: BBS5
Retrieving variant expression predictions
Flatiron Institute
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Simons Foundation