General Structure Information
| PDB ID | 3s4y |
| HGNC Gene Label(s) | TPK1 |
| Structure Name | crystal structure of human thiamin pyrophosphokinase 1 |
| Resolution | 1.8Å |
| Reference | AUTH L.SHEN,W.TEMPEL,Y.TONG,Y.LI,J.R.WALKER,C.H.ARROWSMITH,AUTH 2 A.M.EDWARDS,C.BOUNTRA,J.WEIGELT,H.PARKTITL CRYSTAL STRUCTURE OF HUMAN THIAMIN PYROPHOSPHOKINASE 1REF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 224 |
| Number Of SNVs | 55 |
| Number Of Permutations | 8687 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.013 |
| p-value | 0.61 |
ClinVar
| Number Of Residues | 224 |
| Number Of SNVs | 3 |
| Number Of Permutations | 149 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | 0.0 |
| p-value | 0.594 |
COSMIC
| Number Of Residues | 224 |
| Number Of SNVs | 6 |
| Number Of Permutations | 282 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.467 |
| p-value | 0.13 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 55 |
| Number Of ClinVar SNVs | 3 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | -0.31 |
| p-value | 0.57 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 55 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 28.0 |
| K Statistic | -0.358 |
| p-value | 0.828 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
