General Structure Information
| PDB ID | 2p39 |
| HGNC Gene Label(s) | FGF23 |
| Structure Name | crystal structure of human fgf23 |
| Resolution | 1.5Å |
| Reference | AUTH R.GOETZ,A.BEENKEN,O.A.IBRAHIMI,J.KALININA,AUTH 2 S.K.OLSEN,A.V.ELISEENKOVA,C.XU,T.A.NEUBERT,F.ZHANG,AUTH 3 R.J.LINHARDT,X.YU,K.E.WHITE,T.INAGAKI,S.A.KLIEWER,AUTH 4 M.YAMAMOTO,H.KUROSU,Y.OGAWA,M.KURO-O,B.LANSKE,AUTH 5 M.S.RAZZAQUE,M.MOHAMMADITITL MOLECULAR INSIGHTS INTO THE KLOTHO-DEPENDENT,TITL 2 ENDOCRINE MODE OF ACTION OF FIBROBLAST GROWTHTITL 3 FACTOR 19 SUBFAMILY MEMBERS.REF MOL.CELL.BIOL. V. 27 3417 2007REFN ISSN 0270-7306PMID 17339340DOI 10.1128/MCB.02249-06 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 142 |
| Number Of SNVs | 33 |
| Number Of Permutations | 3022 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.042 |
| p-value | 0.34 |
ClinVar
| Number Of Residues | 142 |
| Number Of SNVs | 4 |
| Number Of Permutations | 230 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.333 |
| p-value | 0.134 |
COSMIC
| Number Of Residues | 142 |
| Number Of SNVs | 8 |
| Number Of Permutations | 437 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.107 |
| p-value | 0.18 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 33 |
| Number Of ClinVar SNVs | 4 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.269 |
| p-value | 0.136 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 33 |
| Number Of COSMIC SNVs | 4 |
| Optimal Distance Threshold | 22.0 |
| K Statistic | 0.275 |
| p-value | 0.841 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
