General Structure Information
| PDB ID | 1jlj |
| HGNC Gene Label(s) | GPHN |
| Structure Name | 1.6 angstrom crystal structure of the human neuroreceptor anchoring and molybdenum cofactor biosynthesis protein gephyrin |
| Resolution | 1.6Å |
| Reference | AUTH G.SCHWARZ,N.SCHRADER,R.R.MENDEL,H.J.HECHT,AUTH 2 H.SCHINDELINTITL CRYSTAL STRUCTURES OF HUMAN GEPHYRIN AND PLANTTITL 2 CNX1 G DOMAINS: COMPARATIVE ANALYSIS ANDTITL 3 FUNCTIONAL IMPLICATIONS.REF J.MOL.BIOL. V. 312 405 2001REFN ISSN 0022-2836PMID 11554796DOI 10.1006/JMBI.2001.4952 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 169 |
| Number Of SNVs | 29 |
| Number Of Permutations | 10994 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.246 |
| p-value | 0.758 |
COSMIC
| Number Of Residues | 169 |
| Number Of SNVs | 3 |
| Number Of Permutations | 18 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | 0.333 |
| p-value | 1.0 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 29 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | -0.18 |
| p-value | 0.868 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
