4MI0.A | EZH2

General Structure Information

PDB ID 4mi0
HGNC Gene Label(s) EZH2
Structure Name human enhancer of zeste (drosophila) homolog 2(ezh2)
Resolution 2.0Å
Reference AUTH H.WU,H.ZENG,A.DONG,F.LI,H.HE,G.SENISTERRA,A.SEITOVA,S.DUAN,AUTH 2 P.J.BROWN,M.VEDADI,C.H.ARROWSMITH,M.SCHAPIRATITL STRUCTURE OF THE CATALYTIC DOMAIN OF EZH2 REVEALSTITL 2 CONFORMATIONAL PLASTICITY IN COFACTOR AND SUBSTRATE BINDINGTITL 3 SITES AND EXPLAINS ONCOGENIC MUTATIONS.REF PLOS ONE V. 8 83737 2013REFN ESSN 1932-6203PMID 24367611DOI 10.1371/JOURNAL.PONE.0083737

Variant Set Distributions

ExAC Variants

Number Of Residues 208
Number Of SNVs 12
Number Of Permutations 5674
Optimal Distance Threshold 7.0
K Statistic 0.061
p-value 0.605
ClinVar

Number Of Residues 208
Number Of SNVs 4
Number Of Permutations 846
Optimal Distance Threshold 12.0
K Statistic 0.333
p-value 0.247
COSMIC

Number Of Residues 208
Number Of SNVs 17
Number Of Permutations 17931
Optimal Distance Threshold 13.0
K Statistic 0.206
p-value 0.366

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 12
Number Of ClinVar SNVs 4
Optimal Distance Threshold 12.0
K Statistic 0.197
p-value 0.203
Cosmic vs. ExAC

Number Of ExAC SNVs 12
Number Of COSMIC SNVs 14
Optimal Distance Threshold 10.0
K Statistic -0.062
p-value 0.678

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants