General Structure Information
| PDB ID | 4jhn |
| HGNC Gene Label(s) | RPGR |
| Structure Name | the crystal structure of the rpgr rcc1-like domain |
| Resolution | 1.7Å |
| Reference | AUTH D.WATZLICH,I.VETTER,K.GOTTHARDT,M.MIERTZSCHKE,Y.X.CHEN,AUTH 2 A.WITTINGHOFER,S.ISMAILTITL THE INTERPLAY BETWEEN RPGR, PDE-DELTA AND ARL2/3 REGULATETITL 2 THE CILIARY TARGETING OF FARNESYLATED CARGO.REF EMBO REP. V. 14 465 2013REFN ISSN 1469-221XPMID 23559067DOI 10.1038/EMBOR.2013.37 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 361 |
| Number Of SNVs | 36 |
| Number Of Permutations | 4526 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.049 |
| p-value | 0.013 |
ClinVar
| Number Of Residues | 361 |
| Number Of SNVs | 8 |
| Number Of Permutations | 967 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.071 |
| p-value | 0.283 |
COSMIC
| Number Of Residues | 361 |
| Number Of SNVs | 3 |
| Number Of Permutations | 148 |
| Optimal Distance Threshold | 44.0 |
| K Statistic | 0.667 |
| p-value | 0.145 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 36 |
| Number Of ClinVar SNVs | 7 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.116 |
| p-value | 0.193 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 36 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.322 |
| p-value | 0.286 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
