4ASC.A | KLHL40

General Structure Information

PDB ID 4asc
HGNC Gene Label(s) KLHL40
Structure Name crystal structure of the kelch domain of human kbtbd5
Resolution 1.78Å
Reference AUTH P.CANNING,C.D.O.COOPER,T.KROJER,J.W.MURRAY,A.C.W.PIKE,AUTH 2 A.CHAIKUAD,T.KEATES,C.THANGARATNARAJAH,V.HOJZAN,B.D.MARSDEN,AUTH 3 O.GILEADI,S.KNAPP,F.VON DELFT,A.N.BULLOCKTITL STRUCTURAL BASIS FOR CUL3 ASSEMBLY WITH THE BTB-KELCHTITL 2 FAMILY OF E3 UBIQUITIN LIGASES.REF J.BIOL.CHEM. V. 288 7803 2013REFN ISSN 0021-9258PMID 23349464DOI 10.1074/JBC.M112.437996

Variant Set Distributions

ExAC Variants

Number Of Residues 307
Number Of SNVs 110
Number Of Permutations 44695
Optimal Distance Threshold 7.0
K Statistic 0.023
p-value 0.972
ClinVar

Number Of Residues 307
Number Of SNVs 3
Number Of Permutations 218
Optimal Distance Threshold 6.0
K Statistic 0.333
p-value 0.052
COSMIC

Number Of Residues 307
Number Of SNVs 4
Number Of Permutations 16
Optimal Distance Threshold 13.0
K Statistic 0.167
p-value 1.0

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 110
Number Of ClinVar SNVs 3
Optimal Distance Threshold 6.0
K Statistic 0.319
p-value 0.04
Cosmic vs. ExAC

Number Of ExAC SNVs 110
Number Of COSMIC SNVs 3
Optimal Distance Threshold 22.0
K Statistic -0.398
p-value 0.342

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants