General Structure Information
| PDB ID | 3ooi |
| HGNC Gene Label(s) | NSD1 |
| Structure Name | crystal structure of human histone-lysine n-methyltransferase nsd1 set domain in complex with s-adenosyl-l-methionine |
| Resolution | 1.75Å |
| Reference | AUTH Q.QIAO,Y.LI,Z.CHEN,M.WANG,D.REINBERG,R.M.XUTITL THE STRUCTURE OF NSD1 REVEALS AN AUTOREGULATORY MECHANISMTITL 2 UNDERLYING HISTONE H3K36 METHYLATIONREF J.BIOL.CHEM. V. 286 8361 2010REFN ISSN 0021-9258PMID 21196496DOI 10.1074/JBC.M110.204115 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 231 |
| Number Of SNVs | 13 |
| Number Of Permutations | 2233 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.038 |
| p-value | 0.794 |
ClinVar
| Number Of Residues | 231 |
| Number Of SNVs | 14 |
| Number Of Permutations | 2363 |
| Optimal Distance Threshold | 17.0 |
| K Statistic | 0.473 |
| p-value | 0.012 |
COSMIC
| Number Of Residues | 231 |
| Number Of SNVs | 4 |
| Number Of Permutations | 279 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.333 |
| p-value | 0.043 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC



Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 13 |
| Number Of ClinVar SNVs | 12 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.107 |
| p-value | 0.114 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 13 |
| Number Of COSMIC SNVs | 5 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.249 |
| p-value | 0.025 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis


COSMIC PathProx Analysis

