6PAX|PAX6

General Structure Information

PDB ID 6PAX
HGNC Gene Label(s) PAX6
Structure Name crystal structure of the human pax-6 paired domain-dna complex reveals a general model for pax protein-dna interactions
Resolution 2.5Å
Reference AUTH H.E.XU,M.A.ROULD,W.XU,J.A.EPSTEIN,R.L.MAAS,C.O.PABOTITL CRYSTAL STRUCTURE OF THE HUMAN PAX6 PAIREDTITL 2 DOMAIN-DNA COMPLEX REVEALS SPECIFIC ROLES FOR THETITL 3 LINKER REGION AND CARBOXY-TERMINAL SUBDOMAIN INTITL 4 DNA BINDING.REF GENES DEV. V. 13 1263 1999REFN ISSN 0890-9369PMID 10346815

Variant Set Distributions

ExAC Variants

Number Of Residues 133
Number Of SNVs 10
Number Of Permutations 2257
Optimal Distance Threshold 9.0
K Statistic 0.266666666667
p-value 0.00714
ClinVar

Number Of Residues 133
Number Of SNVs 8
Number Of Permutations 1778
Optimal Distance Threshold 6.0
K Statistic 0.0
p-value 0.75566
COSMIC

Number Of Residues 133
Number Of SNVs 26
Number Of Permutations 8373
Optimal Distance Threshold 6.0
K Statistic 0.0123076923077
p-value 0.30262
ClinVar vs. ExAC
Cosmic vs. ExAC

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

[+]ExAC Missense Variants

[+]ClinVar Missense Variants

[+]COSMIC Missense Variants