1RRJ.A | TOP1

General Structure Information

PDB ID 1rrj
HGNC Gene Label(s) TOP1
Structure Name structural mechanisms of camptothecin resistance by mutations in human topoisomerase i
Resolution 2.3Å
Reference AUTH J.E.CHRENCIK,B.L.STAKER,A.B.BURGIN,P.POURQUIER,AUTH 2 Y.POMMIER,L.STEWART,M.R.REDINBOTITL MECHANISMS OF CAMPTOTHECIN RESISTANCE BY HUMANTITL 2 TOPOISOMERASE I MUTATIONSREF J.MOL.BIOL. V. 339 773 2004REFN ISSN 0022-2836PMID 15165849DOI 10.1016/J.JMB.2004.03.077

Variant Set Distributions

ExAC Variants

Number Of Residues 564
Number Of SNVs 55
Number Of Permutations 46374
Optimal Distance Threshold 29.0
K Statistic 0.203
p-value 0.0
ClinVar

Number Of Residues 564
Number Of SNVs 3
Number Of Permutations 430
Optimal Distance Threshold 30.0
K Statistic 1.0
p-value 0.234
COSMIC

Number Of Residues 564
Number Of SNVs 4
Number Of Permutations 111
Optimal Distance Threshold 41.0
K Statistic 0.167
p-value 0.213

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 55
Number Of ClinVar SNVs 3
Optimal Distance Threshold 30.0
K Statistic 0.779
p-value 0.189
Cosmic vs. ExAC

Number Of ExAC SNVs 55
Number Of COSMIC SNVs 3
Optimal Distance Threshold 36.0
K Statistic -0.313
p-value 0.482

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants