Resource
| Id | gene_properties/gene_scores/pLI |
|---|---|
| Type | gene_score |
| Version | 0 |
| Summary | Probability of Loss-of-Function Intolerance |
| Description |
The probability of loss-of-function intolerance (pLI) score reflects a gene's sensitivity to LoF mutations, with higher scores indicating greater intolerance. It's calculated by comparing observed versus expected protein-truncating variants (PTVs), where a pLI near 1 suggests LoF mutations are likely deleterious. Genes with pLI >= 0.9 are strongly considered LoF-intolerant, often associated with haploinsufficiency and dominant genetic diseases. pLI calculations utilize human genetic diversity data from large-scale databases, including the Exome Aggregation Consortium (ExAC) and gnomAD. Lek et al., Analysis of protein-coding genetic variation in 60,706 humans, Nature 2016 |
| Labels |
Scores (2)
| ID | Type | Description | Histograms | Range | Summary |
|---|---|---|---|---|---|
| pLI |
Probability of Loss-of-Function Intolerance
Small values desc: less likely to be Loss-of-function intolerant
Large values desc: more likely to be Loss-of-function intolerant
|
|
[5.36e-91, 1] |
|
|
| pLI_rank |
Gene rank after sorting by pLI intolerance score
Small values desc: more likely to be Loss-of-function intolerant
Large values desc: less likely to be Loss-of-function intolerant
|
|
[31.5, 1.82e+04] |
|
n counts genes; sd is the population standard deviation.
Files
| Filename | Size | md5 |
|---|---|---|
| ExAC.csv | 863.44 KB | d79d1d1a088cfb6b29a9e1bd6103d372 |
| genomic_resource.yaml | 1.6 KB | 8fb551a4ee578a3cf17a0d2331e66113 |
| statistics/ |