Resource
| Id | gene_properties/gene_scores/pRec |
|---|---|
| Type | gene_score |
| Version | 0 |
| Summary | Probability of recessive LoF sensitivity |
| Description |
The probability of being recessive (pRec) estimates how likely a gene is tolerant to heterozygous loss-of-function (LoF) but intolerant to biallelic LoF mutations. Genes with high pRec values are typically associated with recessive inheritance, where both alleles must be disrupted for disease to occur. The score is derived from observed versus expected homozygous LoF variants in population-scale datasets such as ExAC and gnomAD. Lek et al., Analysis of protein-coding genetic variation in 60,706 humans, Nature 2016 Downloaded on: 10/24/25 Dataprep.py takes the pRec column from Supplementary Table 13 "Gene Constraint" sheet and adds a pRec_rank column. |
| Labels |
Scores (2)
| ID | Type | Description | Histograms | Range | Summary |
|---|---|---|---|---|---|
| pRec |
Probability of biallelic loss-of-function intolerance
|
|
[6.8e-31, 1] |
|
|
| pRec_rank |
Gene rank after sorting by pRec intolerance score
|
|
[4, 1.82e+04] |
|
n counts genes; sd is the population standard deviation.
Files
| Filename | Size | md5 |
|---|---|---|
| dataprep.py | 529.0 B | f7e6baf7086fbe40dae7b2ac6f4af1fe |
| genomic_resource.yaml | 1.33 KB | dc4f6a3885fc1badcfeb4ab1ed19255d |
| nature19057-SI Table 13.xlsx | 5.55 MB | 183617a934bf63b9df992104391bbecc |
| pRec.csv | 573.12 KB | 184401c4fa9135e5529804bbd2e5b57e |
| statistics/ |