Gene RPGR

All Male only Female only
Location (GRCh37):
chrX:38,128,416-38,186,817
Description:
retinitis pigmentosa GTPase regulator [Source:HGNC Symbol;Acc:10295]
Biotype
Protein coding
Nb components:
17
Ensembl:
ENSG00000156313
HGNC Symbol:
10295
MIM gene:
312610
MIM disease:
300029, 300455, 300834, 304020
Uniprot:
Q92834, A0A2R8Y414, A0A2R8YF02, H7C4L1, A0A2R8YGY6, A0A2R8Y838, A0A2R8YFT6, H7C4H4, A0A2R8YDN2, A0A2R8Y4C9
WikiGene:
6103
Median gene-level TPM by tissue (GTEx) [link]:

This plot shows tissues where the current gene is most expressed in GTEx to help contextualize phenotype associations.

Genetic associations QQ-plot

Inflation factor 𝜆=

This plot shows the distribution of observed association P-values compared to the expected distribution under the null hypothesis of no association (uniform distribution of P-values). Systematic deviation from the shaded region indicates statistical inflation that could be explained by pleiotropy.

Continuous variables

Outcome Id Description N -log10(P) P-Value P-Value (Bonferroni) Q-Value

* Values noted as 0 represent values smaller than the numerical floating point representation limit (< 2e-308 for this analysis).

Cardiovascular Endpoints

Outcome Id Description N cases N controls N excluded from controls -log10(P) P-Value P-Value (Bonferroni) Q-Value

Self Reported

Outcome Id Description N cases N controls N excluded from controls -log10(P) P-Value P-Value (Bonferroni) Q-Value

Phecodes

Outcome Id Description N cases N controls N excluded from controls -log10(P) P-Value P-Value (Bonferroni) Q-Value