General Structure Information
| PDB ID | 4kgh |
| HGNC Gene Label(s) | BPIFA1 |
| Structure Name | crystal structure of human splunc1 lacking the secretion signal sequence |
| Resolution | 2.81Å |
| Reference | AUTH A.L.GARLAND,W.G.WALTON,R.D.COAKLEY,C.D.TAN,R.C.GILMORE,AUTH 2 C.A.HOBBS,A.TRIPATHY,L.A.CLUNES,S.BENCHARIT,M.J.STUTTS,AUTH 3 L.BETTS,M.R.REDINBO,R.TARRANTITL MOLECULAR BASIS FOR PH-DEPENDENT MUCOSAL DEHYDRATION INTITL 2 CYSTIC FIBROSIS AIRWAYS.REF PROC.NATL.ACAD.SCI.USA V. 110 15973 2013REFN ISSN 0027-8424PMID 24043776DOI 10.1073/PNAS.1311999110 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 197 |
| Number Of SNVs | 58 |
| Number Of Permutations | 38882 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.056 |
| p-value | 0.984 |
COSMIC
| Number Of Residues | 197 |
| Number Of SNVs | 3 |
| Number Of Permutations | 1 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.333 |
| p-value | 1.0 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 58 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 19.0 |
| K Statistic | 0.652 |
| p-value | 0.118 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
