4CEK.A | UPF2

General Structure Information

PDB ID 4cek
HGNC Gene Label(s) UPF2
Structure Name crystal structure of the second mif4g domain of human nonsense mediated decay factor upf2
Resolution 2.35Å
Reference AUTH M.CLERICI,A.DENIAUD,V.BOEHM,N.H.GEHRING,C.SCHAFFITZEL,AUTH 2 S.CUSACKTITL STRUCTURAL AND FUNCTIONAL ANALYSIS OF THE THREE MIF4GTITL 2 DOMAINS OF NONSENSE-MEDIATED DECAY FACTOR UPF2.REF NUCLEIC ACIDS RES. V. 42 2673 2014REFN ISSN 0305-1048PMID 24271394DOI 10.1093/NAR/GKT1197

Variant Set Distributions

ExAC Variants

Number Of Residues 240
Number Of SNVs 33
Number Of Permutations 20616
Optimal Distance Threshold 21.0
K Statistic 0.35
p-value 0.473
COSMIC

Number Of Residues 240
Number Of SNVs 4
Number Of Permutations 113
Optimal Distance Threshold 13.0
K Statistic 0.5
p-value 0.079

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs 33
Number Of COSMIC SNVs 3
Optimal Distance Threshold 11.0
K Statistic 0.246
p-value 0.378

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants