General Structure Information
| PDB ID | 3eto |
| HGNC Gene Label(s) | NOTCH1 |
| Structure Name | 2 angstrom xray structure of the notch1 negative regulatory region (nrr) |
| Resolution | 2.0Å |
| Reference | AUTH W.R.GORDON,M.ROY,D.VARDAR-ULU,M.GARFINKEL,M.R.MANSOUR,AUTH 2 J.C.ASTER,S.C.BLACKLOWTITL STRUCTURE OF THE NOTCH1-NEGATIVE REGULATORY REGION:TITL 2 IMPLICATIONS FOR NORMAL ACTIVATION AND PATHOGENIC SIGNALINGTITL 3 IN T-ALL.REF BLOOD V. 113 4381 2009REFN ISSN 0006-4971PMID 19075186DOI 10.1182/BLOOD-2008-08-174748 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 232 |
| Number Of SNVs | 43 |
| Number Of Permutations | 21129 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.071 |
| p-value | 0.073 |
ClinVar
| Number Of Residues | 232 |
| Number Of SNVs | 3 |
| Number Of Permutations | 200 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | 0.0 |
| p-value | 0.642 |
COSMIC
| Number Of Residues | 232 |
| Number Of SNVs | 22 |
| Number Of Permutations | 4361 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.45 |
| p-value | 0.0 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 43 |
| Number Of ClinVar SNVs | 3 |
| Optimal Distance Threshold | 17.0 |
| K Statistic | -0.237 |
| p-value | 0.774 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 43 |
| Number Of COSMIC SNVs | 15 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.22 |
| p-value | 0.008 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
