Description

This track displays haploinsufficiency predictions for human genes (Huang 2010). Human cells have two copies of most genes (one from each parent). If a mutation alters one copy, the other is usually still sufficient to maintain gene function. For haploinsufficient genes, however, both copies must be functioning for the organism to have a normal life. Haploinsufficiency is implicated in a number of health disorders.

Display Conventions

Predictions in this track are provided on a per-gene basis and are displayed in blocks corresponding to each gene's position in the genome (and labeled with that gene's name). The raw prediction scores range from 0 to 1, where 0 is very unlikely to be haploinsufficient and 1 is very likely. Because many of the predicted scores fall toward the lower end of the spectrum, the authors also grouped those scores by quantile. The quantile for each gene is shown as α-upper percentile, which shows the percentage of genes with a higher predicted score than this one. A gene with a relatively strong prediction of being haploinsufficient will have a quantile close to 0%. A gene with a very low comparative prediction of being haploinsufficient will have a quantile close to 100%.

Moving the mouse cursor over any gene will display a pop-up box with the gene name and α-upper quantile for the prediction. The genes in this track are also color-coded according to quantile:

• Magenta shades indicate a higher expectation of being haploinsufficient
• Green shades indicate a lower expectation of being haploinsufficient

Credits

Data for this track were generously provided by the DECIPHER project at https://decipher.sanger.ac.uk/about/downloads/data.

References

Huang N, Lee I, Marcotte EM, Hurles ME. Characterising and predicting haploinsufficiency in the human genome. PLoS Genet. 2010 Oct 14;6(10):e1001154. PMID: 20976243; PMC: PMC2954820