4LG8.A | PRPF19

General Structure Information

PDB ID 4lg8
HGNC Gene Label(s) PRPF19
Structure Name crystal structure of prpf19 wd40 repeats
Resolution 1.89Å
Reference AUTH C.XU,W.TEMPEL,H.HE,E.DOBROVETSKY,C.BOUNTRA,C.H.ARROWSMITH,AUTH 2 A.M.EDWARDS,J.MIN,STRUCTURAL GENOMICS CONSORTIUM (SGC)TITL CRYSTAL STRUCTURE OF PRPF19 WD40 REPEATSREF TO BE PUBLISHEDREFN

Variant Set Distributions

ExAC Variants

Number Of Residues 310
Number Of SNVs 34
Number Of Permutations 3292
Optimal Distance Threshold 9.0
K Statistic 0.061
p-value 0.702
COSMIC

Number Of Residues 310
Number Of SNVs 3
Number Of Permutations 107
Optimal Distance Threshold 6.0
K Statistic 0.333
p-value 0.116

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs 34
Number Of COSMIC SNVs 3
Optimal Distance Threshold 6.0
K Statistic 0.317
p-value 0.384

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants