3OOI.A | NSD1

General Structure Information

PDB ID 3ooi
HGNC Gene Label(s) NSD1
Structure Name crystal structure of human histone-lysine n-methyltransferase nsd1 set domain in complex with s-adenosyl-l-methionine
Resolution 1.75Å
Reference AUTH Q.QIAO,Y.LI,Z.CHEN,M.WANG,D.REINBERG,R.M.XUTITL THE STRUCTURE OF NSD1 REVEALS AN AUTOREGULATORY MECHANISMTITL 2 UNDERLYING HISTONE H3K36 METHYLATIONREF J.BIOL.CHEM. V. 286 8361 2010REFN ISSN 0021-9258PMID 21196496DOI 10.1074/JBC.M110.204115

Variant Set Distributions

ExAC Variants

Number Of Residues 231
Number Of SNVs 13
Number Of Permutations 2233
Optimal Distance Threshold 6.0
K Statistic 0.038
p-value 0.794
ClinVar

Number Of Residues 231
Number Of SNVs 14
Number Of Permutations 2363
Optimal Distance Threshold 17.0
K Statistic 0.473
p-value 0.012
COSMIC

Number Of Residues 231
Number Of SNVs 4
Number Of Permutations 279
Optimal Distance Threshold 9.0
K Statistic 0.333
p-value 0.043

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 13
Number Of ClinVar SNVs 12
Optimal Distance Threshold 11.0
K Statistic 0.107
p-value 0.114
Cosmic vs. ExAC

Number Of ExAC SNVs 13
Number Of COSMIC SNVs 5
Optimal Distance Threshold 9.0
K Statistic 0.249
p-value 0.025

Pathogenic Proximity Analysis

ClinVar PathProx Analysis
COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants