4H7W.A | USB1

General Structure Information

PDB ID 4h7w
HGNC Gene Label(s) USB1
Structure Name crystal structure of human c16orf57
Resolution 1.1Å
Reference AUTH C.HILCENKO,P.J.SIMPSON,A.J.FINCH,F.R.BOWLER,M.J.CHURCHER,AUTH 2 L.JIN,L.C.PACKMAN,A.SHLIEN,P.CAMPBELL,M.KIRWAN,I.DOKAL,AUTH 3 A.J.WARRENTITL ABERRANT 3 OLIGOADENYLATION OF SPLICEOSOMAL U6 SMALLTITL 2 NUCLEAR RNA IN POIKILODERMA WITH NEUTROPENIA.REF BLOOD V. 121 1028 2013REFN ISSN 0006-4971PMID 23190533DOI 10.1182/BLOOD-2012-10-461491

Variant Set Distributions

ExAC Variants

Number Of Residues 187
Number Of SNVs 51
Number Of Permutations 4857
Optimal Distance Threshold 16.0
K Statistic 0.244
p-value 0.274

Mapped Variants

[+] ExAC Missense Variants