2E9W.D | KITLG

General Structure Information

PDB ID 2e9w
HGNC Gene Label(s) KITLG
Structure Name crystal structure of the extracellular domain of kit in complex with stem cell factor (scf)
Resolution 3.5Å
Reference AUTH S.YUZAWA,Y.OPATOWSKY,Z.ZHANG,V.MANDIYAN,I.LAX,J.SCHLESSINGERTITL STRUCTURAL BASIS FOR ACTIVATION OF THE RECEPTOR TYROSINETITL 2 KINASE KIT BY STEM CELL FACTORREF CELL(CAMBRIDGE,MASS.) V. 130 323 2007REFN ISSN 0092-8674PMID 17662946DOI 10.1016/J.CELL.2007.05.055

Variant Set Distributions

ExAC Variants

Number Of Residues 128
Number Of SNVs 21
Number Of Permutations 7622
Optimal Distance Threshold 7.0
K Statistic 0.033
p-value 0.79
ClinVar

Number Of Residues 128
Number Of SNVs 3
Number Of Permutations 155
Optimal Distance Threshold 6.0
K Statistic 0.667
p-value 0.004
COSMIC

Number Of Residues 128
Number Of SNVs 6
Number Of Permutations 391
Optimal Distance Threshold 14.0
K Statistic 0.133
p-value 0.832

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 21
Number Of ClinVar SNVs 3
Optimal Distance Threshold 5.0
K Statistic 0.657
p-value 0.002
Cosmic vs. ExAC

Number Of ExAC SNVs 21
Number Of COSMIC SNVs 5
Optimal Distance Threshold 20.0
K Statistic 0.343
p-value 0.578

Pathogenic Proximity Analysis

ClinVar PathProx Analysis
COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants