General Structure Information
| PDB ID | 2vr2 |
| HGNC Gene Label(s) | DPYS |
| Structure Name | human dihydropyrimidinase |
| Resolution | 2.8Å |
| Reference | AUTH M.WELIN,T.KARLBERG,J.ANDERSSON,C.H.ARROWSMITH,H.BERGLUND,AUTH 2 R.D.BUSAM,R.COLLINS,L.G.DAHLGREN,A.M.EDWARDS,S.FLODIN,AUTH 3 A.FLORES,S.GRASLUND,M.HAMMARSTROM,M.D.HERMAN,I.JOHANSSON,AUTH 4 A.KALLAS,T.KOTENYOVA,L.LEHTIO,M.MOCHE,M.E.NILSSON,T.NYMAN,AUTH 5 C.PERSSON,J.SAGEMARK,L.SVENSSON,A.G.THORSELL,L.TRESAUGUES,AUTH 6 S.VAN DEN BERG,J.WEIGELT,M.WIKSTROM,P.NORDLUNDTITL THE CRYSTAL STRUCTURE OF HUMAN DIHYDROPYRIMIDINASEREF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 478 |
| Number Of SNVs | 123 |
| Number Of Permutations | 72456 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | 0.064 |
| p-value | 0.365 |
ClinVar
| Number Of Residues | 478 |
| Number Of SNVs | 4 |
| Number Of Permutations | 1431 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.333 |
| p-value | 0.067 |
COSMIC
| Number Of Residues | 478 |
| Number Of SNVs | 19 |
| Number Of Permutations | 28054 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.088 |
| p-value | 0.838 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 123 |
| Number Of ClinVar SNVs | 3 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.65 |
| p-value | 0.002 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 123 |
| Number Of COSMIC SNVs | 14 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | -0.011 |
| p-value | 0.813 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
