mutLBSgeneDB

mutLBSgeneDB
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 SETD6
Gene summary
Basic gene Info.Gene symbolSETD6
Gene nameSET domain containing 6
Synonyms-
CytomapUCSC genome browser: 16q21
Type of geneprotein-coding
RefGenesNM_001160305.1,
NM_024860.2,
DescriptionN-lysine methyltransferase SETD6SET domain-containing protein 6
Modification date20141207
dbXrefs HGNC : HGNC
HPRD : 07956
ProteinUniProt: Q8TBK2
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_SETD6
BioGPS: 79918
PathwayNCI Pathway Interaction Database: SETD6
KEGG: SETD6
REACTOME: SETD6
Pathway Commons: SETD6
ContextiHOP: SETD6
ligand binding site mutation search in PubMed: SETD6
UCL Cancer Institute: SETD6
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0018026peptidyl-lysine monomethylation21131967


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Ligand binding site mutations for SETD6
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
N239E237QBLCA1
M296M296TGBM1
S240S240CKIRC1
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.


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Protein structure related information for SETD6
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
M296M296T-1.6878253
N239E237Q-1.0173319
S240S240C-0.62100554
(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 SETD6 from PDB

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Differential gene expression and gene-gene network for SETD6
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 SETD6 and the right PPI network was created from samples without mutations in the LBS of SETD6. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for SETD6
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

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Pharmacological information for SETD6
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 SETD6 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (GLU,THR,PHE,LYS,SER,ILE)3rc0AN239 S240 M296


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Conservation information for LBS of SETD6
Multiple alignments for Q8TBK2 in multiple species
LBSAA sequence# speciesSpecies
A222VALVMAYSFQE4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
A222VAFVMAYSFQE2Danio rerio, Xenopus tropicalis
A73RQGTVAGYGMV4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
A73KEGTAAEYGML1Danio rerio
A73TEGTVSQYGML1Xenopus tropicalis
D248MVPAADILNHL2Homo sapiens, Bos taurus
D248MVPAADILNHI2Mus musculus, Rattus norvegicus
D248MVPMADMLNHI1Danio rerio
D248MVPVADLLNHV1Xenopus tropicalis
F225VMAYSFQEPL-4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
F225VMAYSFQEPVE1Danio rerio
F225VMAYSFQEPQE1Xenopus tropicalis
F299IHMYGFAEPYP3Mus musculus, Rattus norvegicus, Bos taurus
F299IHMYGFVEPYP1Homo sapiens
F299LHMYGFAEPFP1Danio rerio
F299LHMYGFAEPHP1Xenopus tropicalis
G74QGTVAGYGMVA4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
G74EGTAAEYGMLA1Danio rerio
G74EGTVSQYGMLA1Xenopus tropicalis
H252ADILNHLANHN2Homo sapiens, Bos taurus
H252ADILNHIANHN2Mus musculus, Rattus norvegicus
H252ADMLNHISKHN1Danio rerio
H252ADLLNHVAQHN1Xenopus tropicalis
I249VPAADILNHLA2Homo sapiens, Bos taurus
I249VPAADILNHIA2Mus musculus, Rattus norvegicus
I249VPMADMLNHIS1Danio rerio
I249VPVADLLNHVA1Xenopus tropicalis
L250PAADILNHLAN2Homo sapiens, Bos taurus
L250PAADILNHIAN2Mus musculus, Rattus norvegicus
L250PMADMLNHISK1Danio rerio
L250PVADLLNHVAQ1Xenopus tropicalis
L260NHNANLEYSAN1Homo sapiens
L260KHNANLEYTPE1Danio rerio
L260QHNAHLEFTPE1Xenopus tropicalis
L260NHNANLEYSAD1Mus musculus
L260NHNANLEYSAE1Rattus norvegicus
L260NHNANLEYSPT1Bos taurus
M288NTYGQMANWQL6Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Bos taurus
M296WQLIHMYGFAE3Mus musculus, Rattus norvegicus, Bos taurus
M296WQLLHMYGFAE2Danio rerio, Xenopus tropicalis
M296WQLIHMYGFVE1Homo sapiens
N239DEKEPNSPLMV3Mus musculus, Rattus norvegicus, Bos taurus
N239DEKEPNSPVMV1Homo sapiens
N239DEKKPNLPMMV1Danio rerio
N239IEKDILPPMMV1Xenopus tropicalis
N251AADILNHLANH2Homo sapiens, Bos taurus
N251AADILNHIANH2Mus musculus, Rattus norvegicus
N251MADMLNHISKH1Danio rerio
N251VADLLNHVAQH1Xenopus tropicalis
N259ANHNANLEYSA3Homo sapiens, Mus musculus, Rattus norvegicus
N259SKHNANLEYTP1Danio rerio
N259AQHNAHLEFTP1Xenopus tropicalis
N259ANHNANLEYSP1Bos taurus
N283GHEIFNTYGQM4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
N283GEEVFNTYGQM1Danio rerio
N283GQELFNTYGQM1Xenopus tropicalis
P241KEPNSPLMVPA3Mus musculus, Rattus norvegicus, Bos taurus
P241KEPNSPVMVPA1Homo sapiens
P241KKPNLPMMVPM1Danio rerio
P241KDILPPMMVPV1Xenopus tropicalis
Q226MAYSFQEPL--4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
Q226MAYSFQEPVED1Danio rerio
Q226MAYSFQEPQEE1Xenopus tropicalis
S224LVMAYSFQEPL4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
S224FVMAYSFQEPV1Danio rerio
S224FVMAYSFQEPQ1Xenopus tropicalis
S240EKEPNSPLMVP3Mus musculus, Rattus norvegicus, Bos taurus
S240EKEPNSPVMVP1Homo sapiens
S240EKKPNLPMMVP1Danio rerio
S240EKDILPPMMVP1Xenopus tropicalis
T284HEIFNTYGQMA4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
T284EEVFNTYGQMA1Danio rerio
T284QELFNTYGQMA1Xenopus tropicalis
V72SRQGTVAGYGM4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
V72SKEGTAAEYGM1Danio rerio
V72STEGTVSQYGM1Xenopus tropicalis
W122QSQSGWVPLLL2Homo sapiens, Bos taurus
W122QSLSGWVPLLL2Mus musculus, Rattus norvegicus
W122ESASGWVPLLL1Danio rerio
W122QSCSGWVPLLI1Xenopus tropicalis
Y223ALVMAYSFQEP4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
Y223AFVMAYSFQEP2Danio rerio, Xenopus tropicalis
Y262NANLEYSANCL1Homo sapiens
Y262NANLEYTPECL1Danio rerio
Y262NAHLEFTPECL1Xenopus tropicalis
Y262NANLEYSADYL1Mus musculus
Y262NANLEYSAEYL1Rattus norvegicus
Y262NANLEYSPTCL1Bos taurus
Y285EIFNTYGQMAN4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
Y285EVFNTYGQMAN1Danio rerio
Y285ELFNTYGQMAN1Xenopus tropicalis
Y297QLIHMYGFAEP3Mus musculus, Rattus norvegicus, Bos taurus
Y297QLLHMYGFAEP2Danio rerio, Xenopus tropicalis
Y297QLIHMYGFVEP1Homo sapiens
Y75GTVAGYGMVAR4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
Y75GTAAEYGMLAK1Danio rerio
Y75GTVSQYGMLAR1Xenopus tropicalis


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