Question: Is there a database of haploinsufficiency scores or status for each gene?
gravatar for markrz504
5 days ago by
markrz5040 wrote:

Hi, I'd like to classify genes as haploinsufficient or haplosufficient (or how haploinsufficient, as a continuous score). Is there a reliable source that aggregates this information based on experimental evidence (or any single study that has done this)? I've found some studies that purport to categorize genes from some set of genes as haploinsufficient or -sufficient, but is there something resembling a consensus classification? What would be ideal of course would be something like what DepMap does for gene essentiality. Thanks.

haploinsufficiency • 64 views
ADD COMMENTlink modified 5 days ago by rbagnall1.7k • written 5 days ago by markrz5040

Not sure about a well-stablished dedicated databse for HI. However, Decipher database is using a sort of dosage-sensitivity scores, I used to use this score as a metric of HI.

ADD REPLYlink written 5 days ago by Hamid Ghaedi220
gravatar for rbagnall
5 days ago by
rbagnall1.7k wrote:

ClinGen Genome Dosage Map is manually curating genes and regions of the genome to review the evidence for haploinsufficiency and triplosensitivity, and then score each accordingly. They have completed ~1500 genes and genome regions so far, so perhaps one to watch.

The probability that a gene is constrained for loss of function variants (e.g. nonsense, splice) has been scored in gnomAD and is available for download

ADD COMMENTlink written 5 days ago by rbagnall1.7k

Thanks, in ClinGen, is it explained anywhere what scores mean? I can't find it anywhere on the site.

ADD REPLYlink written 5 days ago by markrz5040

yes, here

ADD REPLYlink written 4 days ago by rbagnall1.7k
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