General Structure Information
| PDB ID | 4nn2 |
| HGNC Gene Label(s) | PHF6 |
| Structure Name | protein crystal structure of human borjeson-forssman-lehmann syndrome associated protein phf6 |
| Resolution | 1.47Å |
| Reference | AUTH Z.LIU,F.LI,J.ZHANG,Y.MEI,J.WU,Y.SHITITL CRYSTAL STRUCTURE OF THE SECOND EXTENDED PHD DOMAIN OF HUMANTITL 2 PHF6 PROTEINREF J.BIOL.CHEM. 2014REFN ESSN 1083-351X |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 124 |
| Number Of SNVs | 3 |
| Number Of Permutations | 106 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.0 |
| p-value | 0.806 |
ClinVar
| Number Of Residues | 124 |
| Number Of SNVs | 3 |
| Number Of Permutations | 107 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.333 |
| p-value | 0.883 |
COSMIC
| Number Of Residues | 124 |
| Number Of SNVs | 5 |
| Number Of Permutations | 544 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.2 |
| p-value | 0.618 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 3 |
| Number Of ClinVar SNVs | 3 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | 0.333 |
| p-value | 0.498 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 3 |
| Number Of COSMIC SNVs | 4 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.333 |
| p-value | 0.056 |