2J0F.A | TYMP

General Structure Information

PDB ID 2j0f
HGNC Gene Label(s) TYMP
Structure Name structural basis for non-competitive product inhibition in human thymidine phosphorylase: implication for drug design
Resolution 2.31Å
Reference AUTH K.EL OMARI,A.BRONCKAERS,S.LIEKENS,M.PEREZ-PEREZ,AUTH 2 J.BALZARINI,D.K.STAMMERSTITL STRUCTURAL BASIS FOR NON-COMPETITIVE PRODUCTTITL 2 INHIBITION IN HUMAN THYMIDINE PHOSPHORYLASE:TITL 3 IMPLICATIONS FOR DRUG DESIGN.REF BIOCHEM.J. V. 399 199 2006REFN ISSN 0264-6021PMID 16803458DOI 10.1042/BJ20060513

Variant Set Distributions

ExAC Variants

Number Of Residues 446
Number Of SNVs 109
Number Of Permutations 49946
Optimal Distance Threshold 11.0
K Statistic 0.053
p-value 0.136
ClinVar

Number Of Residues 446
Number Of SNVs 13
Number Of Permutations 6486
Optimal Distance Threshold 18.0
K Statistic 0.41
p-value 0.014
COSMIC

Number Of Residues 446
Number Of SNVs 8
Number Of Permutations 6542
Optimal Distance Threshold 10.0
K Statistic 0.107
p-value 0.856

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 109
Number Of ClinVar SNVs 13
Optimal Distance Threshold 18.0
K Statistic 0.22
p-value 0.018
Cosmic vs. ExAC

Number Of ExAC SNVs 109
Number Of COSMIC SNVs 7
Optimal Distance Threshold 32.0
K Statistic -0.176
p-value 0.598

Pathogenic Proximity Analysis

ClinVar PathProx Analysis
COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants