4EGC.A | SIX1

General Structure Information

PDB ID 4egc
HGNC Gene Label(s) SIX1
Structure Name crystal structure of mbp-fused human six1 bound to human eya2 eya domain
Resolution 1.99Å
Reference AUTH A.N.PATRICK,J.H.CABRERA,A.L.SMITH,X.S.CHEN,H.L.FORD,R.ZHAOTITL STRUCTURE-FUNCTION ANALYSES OF THE HUMAN SIX1-EYA2 COMPLEXTITL 2 REVEAL INSIGHTS INTO METASTASIS AND BOR SYNDROME.REF NAT.STRUCT.MOL.BIOL. V. 20 447 2013REFN ISSN 1545-9993PMID 23435380DOI 10.1038/NSMB.2505

Variant Set Distributions

ExAC Variants

Number Of Residues 169
Number Of SNVs 24
Number Of Permutations 5378
Optimal Distance Threshold 21.0
K Statistic 0.333
p-value 0.761
ClinVar

Number Of Residues 169
Number Of SNVs 5
Number Of Permutations 841
Optimal Distance Threshold 10.0
K Statistic 0.3
p-value 0.141
COSMIC

Number Of Residues 169
Number Of SNVs 4
Number Of Permutations 16
Optimal Distance Threshold 20.0
K Statistic 0.167
p-value 0.741

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 24
Number Of ClinVar SNVs 5
Optimal Distance Threshold 10.0
K Statistic 0.22
p-value 0.086
Cosmic vs. ExAC

Number Of ExAC SNVs 24
Number Of COSMIC SNVs 3
Optimal Distance Threshold 18.0
K Statistic -0.286
p-value 0.447

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants