General Structure Information
| PDB ID | 4iqm |
| HGNC Gene Label(s) | PUS1 |
| Structure Name | crystal structure of the catalytic domain of human pus1 |
| Resolution | 1.8Å |
| Reference | AUTH N.CZUDNOCHOWSKI,A.L.WANG,J.FINER-MOORE,R.M.STROUDTITL IN HUMAN PSEUDOURIDINE SYNTHASE 1 (HPUS1), A C-TERMINALTITL 2 HELICAL INSERT BLOCKS TRNA FROM BINDING IN THE SAMETITL 3 ORIENTATION AS IN THE PUS1 BACTERIAL HOMOLOGUE TRUA,TITL 4 CONSISTENT WITH THEIR DIFFERENT TARGET SELECTIVITIES.REF J.MOL.BIOL. V. 425 3875 2013REFN ISSN 0022-2836PMID 23707380DOI 10.1016/J.JMB.2013.05.014 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 313 |
| Number Of SNVs | 96 |
| Number Of Permutations | 42303 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | 0.122 |
| p-value | 0.144 |
COSMIC
| Number Of Residues | 313 |
| Number Of SNVs | 10 |
| Number Of Permutations | 8033 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.067 |
| p-value | 0.464 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 96 |
| Number Of COSMIC SNVs | 10 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.043 |
| p-value | 0.349 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
