mutated Ligand Binding Site gene DataBase





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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for SETD3
Gene summary
Basic gene Info.Gene symbolSETD3
Gene nameSET domain containing 3
CytomapUCSC genome browser: 14q32.2
Type of geneprotein-coding
DescriptionSET domain-containing protein 3histone-lysine N-methyltransferase setd3
Modification date20141207
dbXrefs MIM : 615671
Ensembl : ENSG00000183576
HPRD : 08664
Vega : OTTHUMG00000028970
ProteinUniProt: Q86TU7
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_SETD3
BioGPS: 84193
PathwayNCI Pathway Interaction Database: SETD3
Pathway Commons: SETD3
ContextiHOP: SETD3
ligand binding site mutation search in PubMed: SETD3
UCL Cancer Institute: SETD3
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for SETD3
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
: non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.

Protein structure related information for SETD3
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for SETD3 from PDB

Differential gene expression and gene-gene network for SETD3
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of SETD3 and the right PPI network was created from samples without mutations in the LBS of SETD3. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for SETD3
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

Pharmacological information for SETD3
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of SETD3 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of SETD3
Multiple alignments for Q86TU7 in multiple species
LBSAA sequence# speciesSpecies
C277PLWDMCNHTNG5Homo sapiens, Danio rerio, Xenopus tropicalis, Gallus gallus, Mus musculus
D275LIPLWDMCNHT5Homo sapiens, Danio rerio, Xenopus tropicalis, Gallus gallus, Mus musculus
E103MVNFKEEGFGL2Homo sapiens, Mus musculus
E103ISNFADEGYGL1Danio rerio
E103LVEFPEEGFGL1Xenopus tropicalis
E103IANFEEEGFGL1Gallus gallus
E104VNFKEEGFGLR2Homo sapiens, Mus musculus
E104SNFADEGYGLK1Danio rerio
E104VEFPEEGFGLK1Xenopus tropicalis
E104ANFEEEGFGLK1Gallus gallus
F106FKEEGFGLRAT2Homo sapiens, Mus musculus
F106FADEGYGLKAT1Danio rerio
F106FPEEGFGLKAT1Xenopus tropicalis
F106FEEEGFGLKAT1Gallus gallus
F327VIHSGFFFDNN3Homo sapiens, Gallus gallus, Mus musculus
F327VIHNGFFFEDN1Danio rerio
F327VIHNGFFFENN1Xenopus tropicalis
F329HSGFFFDNNSH3Homo sapiens, Gallus gallus, Mus musculus
F329HNGFFFEDNAH1Danio rerio
F329HNGFFFENNLH1Xenopus tropicalis
H279WDMCNHTNGLI5Homo sapiens, Danio rerio, Xenopus tropicalis, Gallus gallus, Mus musculus
M276IPLWDMCNHTN5Homo sapiens, Danio rerio, Xenopus tropicalis, Gallus gallus, Mus musculus
N278LWDMCNHTNGL5Homo sapiens, Danio rerio, Xenopus tropicalis, Gallus gallus, Mus musculus
R254SSVMTRQNQIP5Homo sapiens, Danio rerio, Xenopus tropicalis, Gallus gallus, Mus musculus
R75TFDGKREDYFP2Homo sapiens, Mus musculus
R75SFEGIREDFFS1Danio rerio
R75VFDGKREDYFP1Xenopus tropicalis
R75VFDGKRDDYFP1Gallus gallus
S325EFVIHSGFFFD3Homo sapiens, Gallus gallus, Mus musculus
S325EFVIHNGFFFE2Danio rerio, Xenopus tropicalis
T253VSSVMTRQNQI5Homo sapiens, Danio rerio, Xenopus tropicalis, Gallus gallus, Mus musculus
Y313QIYIFYGTRSN5Homo sapiens, Danio rerio, Xenopus tropicalis, Gallus gallus, Mus musculus

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