General Structure Information
| PDB ID | 2c46 |
| HGNC Gene Label(s) | RNGTT |
| Structure Name | crystal structure of the human rna guanylyltransferase and 5-phosphatase |
| Resolution | 1.6Å |
| Reference | AUTH J.DEBRECZENI,C.JOHANSSON,E.LONGMAN,O.GILEADI,P.SAVITSKYSMEE,AUTH 2 C.SMEE,G.BUNKOCZI,E.UGOCHUKWU,F.VON DELFT,M.SUNDSTROM,AUTH 3 J.WEIGELT,C.ARROWSMITH,A.EDWARDS,S.KNAPPTITL CRYSTAL STRUCTURE OF THE HUMAN RNA GUANYLYLTRANSFERASE ANDTITL 2 5-PHOSPHATASEREF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 194 |
| Number Of SNVs | 23 |
| Number Of Permutations | 2814 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.186 |
| p-value | 0.051 |
COSMIC
| Number Of Residues | 194 |
| Number Of SNVs | 3 |
| Number Of Permutations | 288 |
| Optimal Distance Threshold | 41.0 |
| K Statistic | 0.667 |
| p-value | 0.318 |
Ripley’s K Analysis Plots
ExACCOSMIC


Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 23 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 20.0 |
| K Statistic | -0.328 |
| p-value | 0.585 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis

