General Structure Information
| PDB ID | 3epz |
| HGNC Gene Label(s) | DNMT1 |
| Structure Name | structure of the replication foci-targeting sequence of human dna cytosine methyltransferase dnmt1 |
| Resolution | 2.31Å |
| Reference | AUTH F.SYEDA,R.L.FAGAN,M.WEAN,G.V.AVVAKUMOV,J.R.WALKER,S.XUE,AUTH 2 S.DHE-PAGANON,C.BRENNERTITL THE REPLICATION FOCUS TARGETING SEQUENCE (RFTS) DOMAIN IS ATITL 2 DNA-COMPETITIVE INHIBITOR OF DNMT1.REF J.BIOL.CHEM. V. 286 15344 2011REFN ISSN 0021-9258PMID 21389349DOI 10.1074/JBC.M110.209882 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 214 |
| Number Of SNVs | 20 |
| Number Of Permutations | 9044 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.142 |
| p-value | 0.03 |
ClinVar
| Number Of Residues | 214 |
| Number Of SNVs | 5 |
| Number Of Permutations | 1201 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.3 |
| p-value | 0.045 |
COSMIC
| Number Of Residues | 214 |
| Number Of SNVs | 3 |
| Number Of Permutations | 172 |
| Optimal Distance Threshold | 22.0 |
| K Statistic | 0.667 |
| p-value | 0.789 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 20 |
| Number Of ClinVar SNVs | 5 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.353 |
| p-value | 0.018 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 20 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 22.0 |
| K Statistic | 0.298 |
| p-value | 0.832 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
