2EFL.A | FNBP1

General Structure Information

PDB ID 2efl
HGNC Gene Label(s) FNBP1
Structure Name crystal structure of the efc domain of formin-binding protein 17
Resolution 2.61Å
Reference AUTH A.SHIMADA,H.NIWA,K.TSUJITA,S.SUETSUGU,K.NITTA,AUTH 2 K.HANAWA-SUETSUGU,R.AKASAKA,Y.NISHINO,M.TOYAMA,L.CHEN,AUTH 3 Z.-J.LIU,B.-C.WANG,M.YAMAMOTO,T.TERADA,A.MIYAZAWA,A.TANAKA,AUTH 4 S.SUGANO,M.SHIROUZU,K.NAGAYAMA,T.TAKENAWA,S.YOKOYAMATITL CURVED EFC/F-BAR-DOMAIN DIMERS ARE JOINED END TO END INTO ATITL 2 FILAMENT FOR MEMBRANE INVAGINATION IN ENDOCYTOSISREF CELL(CAMBRIDGE,MASS.) V. 129 761 2007REFN ISSN 0092-8674PMID 17512409DOI 10.1016/J.CELL.2007.03.040

Variant Set Distributions

ExAC Variants

Number Of Residues 273
Number Of SNVs 51
Number Of Permutations 78804
Optimal Distance Threshold 7.0
K Statistic 0.033
p-value 0.856
COSMIC

Number Of Residues 273
Number Of SNVs 3
Number Of Permutations 240
Optimal Distance Threshold 14.0
K Statistic 0.333
p-value 0.627

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs 51
Number Of COSMIC SNVs 3
Optimal Distance Threshold 14.0
K Statistic 0.244
p-value 0.588

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants