General Structure Information
| PDB ID | 2rfi |
| HGNC Gene Label(s) | EHMT1 |
| Structure Name | crystal structure of catalytic domain of human euchromatic histone methyltransferase 1 in complex with sah and dimethylated h3k9 peptide |
| Resolution | 1.59Å |
| Reference | AUTH H.WU,J.MIN,V.V.LUNIN,T.ANTOSHENKO,L.DOMBROVSKI,AUTH 2 H.ZENG,A.ALLALI-HASSANI,V.CAMPAGNA-SLATER,M.VEDADI,AUTH 3 C.H.ARROWSMITH,A.N.PLOTNIKOV,M.SCHAPIRATITL STRUCTURAL BIOLOGY OF HUMAN H3K9 METHYLTRANSFERASESREF PLOS ONE V. 5 E8570 2010REFN ESSN 1932-6203PMID 20084102DOI 10.1371/JOURNAL.PONE.0008570 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 261 |
| Number Of SNVs | 65 |
| Number Of Permutations | 8476 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.028 |
| p-value | 0.699 |
ClinVar
| Number Of Residues | 261 |
| Number Of SNVs | 3 |
| Number Of Permutations | 157 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | 0.0 |
| p-value | 0.745 |
COSMIC
| Number Of Residues | 261 |
| Number Of SNVs | 4 |
| Number Of Permutations | 546 |
| Optimal Distance Threshold | 19.0 |
| K Statistic | 0.5 |
| p-value | 0.567 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 65 |
| Number Of ClinVar SNVs | 3 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | -0.277 |
| p-value | 0.596 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 65 |
| Number Of COSMIC SNVs | 4 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | -0.15 |
| p-value | 0.906 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
