4CEM.A | UPF2

General Structure Information

PDB ID 4cem
HGNC Gene Label(s) UPF2
Structure Name crystal structure of the first mif4g domain of human nonsense mediated decay factor upf2
Resolution 2.6Å
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 305
Number Of SNVs 50
Number Of Permutations 49808
Optimal Distance Threshold 10.0
K Statistic 0.04
p-value 0.331
COSMIC

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs 50
Number Of COSMIC SNVs 3
Optimal Distance Threshold 11.0
K Statistic 0.275
p-value 0.771

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants