General Structure Information
| PDB ID | 4asc |
| HGNC Gene Label(s) | KLHL40 |
| Structure Name | crystal structure of the kelch domain of human kbtbd5 |
| Resolution | 1.78Å |
| Reference | AUTH P.CANNING,C.D.O.COOPER,T.KROJER,J.W.MURRAY,A.C.W.PIKE,AUTH 2 A.CHAIKUAD,T.KEATES,C.THANGARATNARAJAH,V.HOJZAN,B.D.MARSDEN,AUTH 3 O.GILEADI,S.KNAPP,F.VON DELFT,A.N.BULLOCKTITL STRUCTURAL BASIS FOR CUL3 ASSEMBLY WITH THE BTB-KELCHTITL 2 FAMILY OF E3 UBIQUITIN LIGASES.REF J.BIOL.CHEM. V. 288 7803 2013REFN ISSN 0021-9258PMID 23349464DOI 10.1074/JBC.M112.437996 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 307 |
| Number Of SNVs | 110 |
| Number Of Permutations | 44695 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.023 |
| p-value | 0.972 |
ClinVar
| Number Of Residues | 307 |
| Number Of SNVs | 3 |
| Number Of Permutations | 218 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.333 |
| p-value | 0.052 |
COSMIC
| Number Of Residues | 307 |
| Number Of SNVs | 4 |
| Number Of Permutations | 16 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.167 |
| p-value | 1.0 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC



Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 110 |
| Number Of ClinVar SNVs | 3 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.319 |
| p-value | 0.04 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 110 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 22.0 |
| K Statistic | -0.398 |
| p-value | 0.342 |