General Structure Information
| PDB ID | 3qln |
| HGNC Gene Label(s) | ATRX |
| Structure Name | crystal structure of atrx add domain in free state |
| Resolution | 1.9Å |
| Reference | AUTH S.IWASE,B.XIANG,S.GHOSH,T.REN,P.W.LEWIS,J.C.COCHRANE,AUTH 2 C.D.ALLIS,D.J.PICKETTS,D.J.PATEL,H.LI,Y.SHITITL ATRX ADD DOMAIN LINKS AN ATYPICAL HISTONE METHYLATIONTITL 2 RECOGNITION MECHANISM TO HUMAN MENTAL-RETARDATION SYNDROMEREF NAT.STRUCT.MOL.BIOL. V. 18 769 2011REFN ISSN 1545-9993PMID 21666679DOI 10.1038/NSMB.2062 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 123 |
| Number Of SNVs | 5 |
| Number Of Permutations | 488 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.3 |
| p-value | 0.286 |
ClinVar
| Number Of Residues | 123 |
| Number Of SNVs | 5 |
| Number Of Permutations | 480 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.1 |
| p-value | 0.58 |
COSMIC
| Number Of Residues | 123 |
| Number Of SNVs | 4 |
| Number Of Permutations | 1 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.167 |
| p-value | 1.0 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 5 |
| Number Of ClinVar SNVs | 4 |
| Optimal Distance Threshold | 5.0 |
| K Statistic | 0.167 |
| p-value | 1.0 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 5 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.6 |
| p-value | 0.571 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
