General Structure Information
| PDB ID | 2x6u |
| HGNC Gene Label(s) | TBX5 |
| Structure Name | crystal structure of human tbx5 in the dna-free form |
| Resolution | 1.9Å |
| Reference | AUTH C.U.STIRNIMANN,D.PTCHELKINE,C.GRIMM,C.W.MULLERTITL STRUCTURAL BASIS OF TBX5-DNA RECOGNITION: THE T-TITL 2 BOX DOMAIN IN ITS DNA-BOUND AND -UNBOUND FORM.REF J.MOL.BIOL. V. 400 71 2010REFN ISSN 0022-2836PMID 20450920DOI 10.1016/J.JMB.2010.04.052 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 176 |
| Number Of SNVs | 29 |
| Number Of Permutations | 15499 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.069 |
| p-value | 0.301 |
ClinVar
| Number Of Residues | 176 |
| Number Of SNVs | 4 |
| Number Of Permutations | 928 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.0 |
| p-value | 0.401 |
COSMIC
| Number Of Residues | 176 |
| Number Of SNVs | 3 |
| Number Of Permutations | 46 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.333 |
| p-value | 0.537 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 29 |
| Number Of ClinVar SNVs | 4 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | -0.148 |
| p-value | 0.632 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 29 |
| Number Of COSMIC SNVs | 4 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | 0.21 |
| p-value | 0.617 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
