3AVR.A | KDM6A

General Structure Information

PDB ID 3avr
HGNC Gene Label(s) KDM6A
Structure Name catalytic fragment of utx/kdm6a bound with histone h3k27me3 peptide, n-oxyalylglycine, and ni(ii)
Resolution 1.8Å
Reference AUTH T.SENGOKU,S.YOKOYAMATITL STRUCTURAL BASIS FOR HISTONE H3 LYS 27 DEMETHYLATION BYTITL 2 UTX/KDM6AREF GENES DEV. V. 25 2266 2011REFN ISSN 0890-9369PMID 22002947DOI 10.1101/GAD.172296.111

Variant Set Distributions

ExAC Variants

Number Of Residues 473
Number Of SNVs 48
Number Of Permutations 30029
Optimal Distance Threshold 8.0
K Statistic 0.011
p-value 0.028
COSMIC

Number Of Residues 473
Number Of SNVs 13
Number Of Permutations 9113
Optimal Distance Threshold 22.0
K Statistic 0.372
p-value 0.216

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs 48
Number Of COSMIC SNVs 18
Optimal Distance Threshold 17.0
K Statistic 0.09
p-value 0.018

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants