General Structure Information
| PDB ID | 4kbs |
| HGNC Gene Label(s) | GLTPD1 |
| Structure Name | crystal structure of human ceramide-1-phosphate transfer protein (cptp) in complex with 12:0 phosphatidic acid (12:0 pa) |
| Resolution | 1.9Å |
| Reference | AUTH D.K.SIMANSHU,R.K.KAMLEKAR,D.S.WIJESINGHE,X.ZOU,X.ZHAI,AUTH 2 S.K.MISHRA,J.G.MOLOTKOVSKY,L.MALININA,E.H.HINCHCLIFFE,AUTH 3 C.E.CHALFANT,R.E.BROWN,D.J.PATELTITL NON-VESICULAR TRAFFICKING BY A CERAMIDE-1-PHOSPHATE TRANSFERTITL 2 PROTEIN REGULATES EICOSANOIDS.REF NATURE V. 500 463 2013REFN ISSN 0028-0836PMID 23863933DOI 10.1038/NATURE12332 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 208 |
| Number Of SNVs | 78 |
| Number Of Permutations | 28967 |
| Optimal Distance Threshold | 17.0 |
| K Statistic | 0.265 |
| p-value | 0.066 |
COSMIC
| Number Of Residues | 208 |
| Number Of SNVs | 3 |
| Number Of Permutations | 108 |
| Optimal Distance Threshold | 28.0 |
| K Statistic | 0.333 |
| p-value | 0.532 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 78 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 21.0 |
| K Statistic | -0.406 |
| p-value | 0.3 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
