General Structure Information
| PDB ID | 6pax |
| HGNC Gene Label(s) | PAX6 |
| Structure Name | crystal structure of the human pax-6 paired domain-dna complex reveals a general model for pax protein-dna interactions |
| Resolution | 2.5Å |
| Reference | AUTH H.E.XU,M.A.ROULD,W.XU,J.A.EPSTEIN,R.L.MAAS,C.O.PABOTITL CRYSTAL STRUCTURE OF THE HUMAN PAX6 PAIREDTITL 2 DOMAIN-DNA COMPLEX REVEALS SPECIFIC ROLES FOR THETITL 3 LINKER REGION AND CARBOXY-TERMINAL SUBDOMAIN INTITL 4 DNA BINDING.REF GENES DEV. V. 13 1263 1999REFN ISSN 0890-9369PMID 10346815 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 133 |
| Number Of SNVs | 10 |
| Number Of Permutations | 2257 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.267 |
| p-value | 0.007 |
ClinVar
| Number Of Residues | 133 |
| Number Of SNVs | 8 |
| Number Of Permutations | 1778 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.0 |
| p-value | 0.756 |
Ripley’s K Analysis Plots
ExACClinVar
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 10 |
| Number Of ClinVar SNVs | 8 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | -0.195 |
| p-value | 0.028 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
