General Structure Information
| PDB ID | 4bgq |
| HGNC Gene Label(s) | CDKL5 |
| Structure Name | crystal structure of the human cdkl5 kinase domain |
| Resolution | 2.0Å |
| Reference | AUTH P.CANNING,T.KROJER,S.GOUBIN,P.MAHAJAN,M.VOLLMAR,A.C.W.PIKE,AUTH 2 F.VON DELFT,C.H.ARROWSMITH,A.M.EDWARDS,C.BOUNTRA,A.BULLOCKTITL CRYSTAL STRUCTURE OF THE HUMAN CDKL5 KINASE DOMAINREF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 276 |
| Number Of SNVs | 13 |
| Number Of Permutations | 7224 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.09 |
| p-value | 0.1 |
ClinVar
| Number Of Residues | 276 |
| Number Of SNVs | 34 |
| Number Of Permutations | 20195 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | 0.28 |
| p-value | 0.0 |
COSMIC
| Number Of Residues | 276 |
| Number Of SNVs | 6 |
| Number Of Permutations | 1382 |
| Optimal Distance Threshold | 24.0 |
| K Statistic | 0.2 |
| p-value | 0.086 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 13 |
| Number Of ClinVar SNVs | 32 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.219 |
| p-value | 0.0 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 13 |
| Number Of COSMIC SNVs | 6 |
| Optimal Distance Threshold | 26.0 |
| K Statistic | -0.233 |
| p-value | 0.437 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
