3E9L.A | PRPF8

General Structure Information

PDB ID 3e9l
HGNC Gene Label(s) PRPF8
Structure Name crystal structure of human prp8, residues 1755-2016
Resolution 1.95Å
Reference AUTH V.PENA,A.ROZOV,P.FABRIZIO,R.LUHRMANN,M.C.WAHLTITL STRUCTURE AND FUNCTION OF AN RNASE H DOMAIN AT THE HEART OFTITL 2 THE SPLICEOSOME.REF EMBO J. V. 27 2929 2008REFN ISSN 0261-4189PMID 18843295DOI 10.1038/EMBOJ.2008.209

Variant Set Distributions

ExAC Variants

Number Of Residues 257
Number Of SNVs 9
Number Of Permutations 3722
Optimal Distance Threshold 6.0
K Statistic 0.139
p-value 0.001
COSMIC

Number Of Residues 257
Number Of SNVs 6
Number Of Permutations 948
Optimal Distance Threshold 14.0
K Statistic 0.267
p-value 0.439

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs 9
Number Of COSMIC SNVs 4
Optimal Distance Threshold 19.0
K Statistic -0.5
p-value 0.076

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants