mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 SIRT6
Gene summary
Basic gene Info.Gene symbolSIRT6
Gene namesirtuin 6
SynonymsSIR2L6
CytomapUCSC genome browser: 19p13.3
Type of geneprotein-coding
RefGenesNM_001193285.1,
NM_016539.2,
DescriptionNAD-dependent deacetylase sirtuin-6NAD-dependent protein deacetylase sirtuin-6SIR2-like protein 6regulatory protein SIR2 homolog 6sir2-related protein type 6sirtuin type 6
Modification date20141207
dbXrefs MIM : 606211
HGNC : HGNC
Ensembl : ENSG00000077463
HPRD : 12093
Vega : OTTHUMG00000181847
ProteinUniProt: Q8N6T7
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_SIRT6
BioGPS: 51548
PathwayNCI Pathway Interaction Database: SIRT6
KEGG: SIRT6
REACTOME: SIRT6
Pathway Commons: SIRT6
ContextiHOP: SIRT6
ligand binding site mutation search in PubMed: SIRT6
UCL Cancer Institute: SIRT6
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0010569regulation of double-strand break repair via homologous recombination19135889
GO:0061647histone H3-K9 modification18337721
GO:0070932histone H3 deacetylation18337721


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Ligand binding site mutations for SIRT6

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
L9G8ECOAD1
D63D63YLUAD1
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 SIRT6
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
L9G8E0.051351037
D63D63Y-0.20881715
(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 SIRT6 from PDB

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Differential gene expression and gene-gene network for SIRT6
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 SIRT6 and the right PPI network was created from samples without mutations in the LBS of SIRT6. 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 SIRT6
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0018800Cardiomegaly1Biomarker, Therapeutic

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

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Pharmacological information for SIRT6
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 SIRT6 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of SIRT6
Multiple alignments for Q8N6T7 in multiple species
LBSAA sequence# speciesSpecies
A53VFHTGAGISTA2Homo sapiens, Mus musculus
A53VVFTGAGISTS1Arabidopsis thaliana
A53VLHTGAGISTS1Drosophila melanogaster
C141MFVEECAKCKT1Homo sapiens
C141SFMEMCPSCGA1Arabidopsis thaliana
C141IYIEQCKKCRR1Drosophila melanogaster
C141MFVEECPKCKT1Mus musculus
C144EECAKCKTQYV1Homo sapiens
C144EMCPSCGAEYL1Arabidopsis thaliana
C144EQCKKCRRQFV1Drosophila melanogaster
C144EECPKCKTQYV1Mus musculus
C166ATGRLCTVAKA1Homo sapiens
C166ETSRKCSVEK-1Arabidopsis thaliana
C166SLQRACKSSMD1Drosophila melanogaster
C166ATGRLCTVAKT1Mus musculus
C177RGLRACR-GEL2Homo sapiens, Mus musculus
C177-----CG-AKL1Arabidopsis thaliana
C177SKGRSCRSGIL1Drosophila melanogaster
D14LSPYADKGKCG2Homo sapiens, Mus musculus
D14LSFIEDVGQVG1Arabidopsis thaliana
D14LSAYDNKGILG1Drosophila melanogaster
D187RDTILDWEDSL2Homo sapiens, Mus musculus
D187KDTVLDWEDAL1Arabidopsis thaliana
D187YDNVLDWEHDL1Drosophila melanogaster
D190ILDWEDSLPDR2Homo sapiens, Mus musculus
D190VLDWEDALPPK1Arabidopsis thaliana
D190VLDWEHDLPEN1Drosophila melanogaster
D63ASGIPDFRGPH2Homo sapiens, Mus musculus
D63SCGIPDFRGPK1Arabidopsis thaliana
D63SAGIPDFRGPK1Drosophila melanogaster
E189TILDWEDSLPD2Homo sapiens, Mus musculus
E189TVLDWEDALPP1Arabidopsis thaliana
E189NVLDWEHDLPE1Drosophila melanogaster
F64SGIPDFRGPHG2Homo sapiens, Mus musculus
F64CGIPDFRGPKG1Arabidopsis thaliana
F64AGIPDFRGPKG1Drosophila melanogaster
F82LA-PKFDTTFE2Homo sapiens, Mus musculus
F82KDLPKASLPFH1Arabidopsis thaliana
F82EK-PDFNVSFD1Drosophila melanogaster
F86KFDTTFESARP1Homo sapiens
F86KASLPFHRAMP1Arabidopsis thaliana
F86DFNVSFDEARP1Drosophila melanogaster
F86KFDTTFENARP1Mus musculus
G214LSITLGTSLQI1Homo sapiens
G214LVLCLGTSLQI1Arabidopsis thaliana
G214LNIALGTTLQI1Drosophila melanogaster
G214LSVTLGTSLQI1Mus musculus
G256DLRIHGYVDEV2Homo sapiens, Mus musculus
G256NVVIHGLVDKV1Arabidopsis thaliana
G256NLIISSYVDVV1Drosophila melanogaster
G52VVFHTGAGIST2Homo sapiens, Mus musculus
G52LVVFTGAGIST1Arabidopsis thaliana
G52VVLHTGAGIST1Drosophila melanogaster
G54FHTGAGISTAS2Homo sapiens, Mus musculus
G54VFTGAGISTSC1Arabidopsis thaliana
G54LHTGAGISTSA1Drosophila melanogaster
H133KLAELHGNMFV2Homo sapiens, Mus musculus
H133KLSELHGDSFM1Arabidopsis thaliana
H133YLSELHGNIYI1Drosophila melanogaster
I185ELRDTILDWED2Homo sapiens, Mus musculus
I185KLKDTVLDWED1Arabidopsis thaliana
I185ILYDNVLDWEH1Drosophila melanogaster
I219GTSLQIRPSGN2Homo sapiens, Mus musculus
I219GTSLQITPACN1Arabidopsis thaliana
I219GTTLQIVPSGD1Drosophila melanogaster
I61STASGIPDFRG2Homo sapiens, Mus musculus
I61STSCGIPDFRG1Arabidopsis thaliana
I61STSAGIPDFRG1Drosophila melanogaster
K245NLQPTKHDRHA1Homo sapiens
K245NLQKTPKDKKA1Arabidopsis thaliana
K245NLQPTKHDKKA1Drosophila melanogaster
K245NLQPTKHDRQA1Mus musculus
L186LRDTILDWEDS2Homo sapiens, Mus musculus
L186LKDTVLDWEDA1Arabidopsis thaliana
L186LYDNVLDWEHD1Drosophila melanogaster
L192DWEDSLPDRDL2Homo sapiens, Mus musculus
L192DWEDALPPKEI1Arabidopsis thaliana
L192DWEHDLPENDL1Drosophila melanogaster
L197LPDRDLALADE1Homo sapiens
L197LPPKEIDPAEK1Arabidopsis thaliana
L197LPENDLEMGVM1Drosophila melanogaster
L197LPDRDLMLADE1Mus musculus
L227SGNLPLATKRR2Homo sapiens, Mus musculus
L227ACNLPLKCLKG1Arabidopsis thaliana
L227SGDLPLKNLKC1Drosophila melanogaster
L241LVIVNLQPTKH2Homo sapiens, Mus musculus
L241IVIVNLQKTPK1Arabidopsis thaliana
L241FVICNLQPTKH1Drosophila melanogaster
L9NYAAGLSPYAD2Homo sapiens, Mus musculus
L9GYAEKLSFIED1Arabidopsis thaliana
L9NYADGLSAYDN1Drosophila melanogaster
M157TVVGTMGLKAT2Homo sapiens, Mus musculus
M157FEVETIGLKET1Arabidopsis thaliana
M157SAVETVGQKSL1Drosophila melanogaster
N224IRPSGNLPLAT2Homo sapiens, Mus musculus
N224ITPACNLPLKC1Arabidopsis thaliana
N224IVPSGDLPLKN1Drosophila melanogaster
N240RLVIVNLQPTK2Homo sapiens, Mus musculus
N240KIVIVNLQKTP1Arabidopsis thaliana
N240KFVICNLQPTK1Drosophila melanogaster
N44Homo sapiens, Arabidopsis thaliana, Drosophila melanogaster, Mus musculus
P221SLQIRPSGNLP2Homo sapiens, Mus musculus
P221SLQITPACNLP1Arabidopsis thaliana
P221TLQIVPSGDLP1Drosophila melanogaster
P62TASGIPDFRGP2Homo sapiens, Mus musculus
P62TSCGIPDFRGP1Arabidopsis thaliana
P62TSAGIPDFRGP1Drosophila melanogaster
Q113RFLVSQNVDGL1Homo sapiens
Q113KFVISQNVDGL1Arabidopsis thaliana
Q113QYVISQNIDGL1Drosophila melanogaster
Q113SFLVSQNVDGL1Mus musculus
Q218LGTSLQIRPSG2Homo sapiens, Mus musculus
Q218LGTSLQITPAC1Arabidopsis thaliana
Q218LGTTLQIVPSG1Drosophila melanogaster
Q242VIVNLQPTKHD2Homo sapiens, Mus musculus
Q242VIVNLQKTPKD1Arabidopsis thaliana
Q242VICNLQPTKHD1Drosophila melanogaster
R178GLRACR-GELR2Homo sapiens, Mus musculus
R178----CG-AKLK1Arabidopsis thaliana
R178KGRSCRSGILY1Drosophila melanogaster
R220TSLQIRPSGNL2Homo sapiens, Mus musculus
R220TSLQITPACNL1Arabidopsis thaliana
R220TTLQIVPSGDL1Drosophila melanogaster
R231PLATKRRGGRL2Homo sapiens, Mus musculus
R231PLKCLKGGGKI1Arabidopsis thaliana
R231PLKNLKCGGKF1Drosophila melanogaster
R65GIPDFRGPHGV2Homo sapiens, Mus musculus
R65GIPDFRGPKGI1Arabidopsis thaliana
R65GIPDFRGPKGV1Drosophila melanogaster
S191LDWEDSLPDRD2Homo sapiens, Mus musculus
S191LDWEDALPPKE1Arabidopsis thaliana
S191LDWEHDLPEND1Drosophila melanogaster
S216ITLGTSLQIRP1Homo sapiens
S216LCLGTSLQITP1Arabidopsis thaliana
S216IALGTTLQIVP1Drosophila melanogaster
S216VTLGTSLQIRP1Mus musculus
T215SITLGTSLQIR1Homo sapiens
T215VLCLGTSLQIT1Arabidopsis thaliana
T215NIALGTTLQIV1Drosophila melanogaster
T215SVTLGTSLQIR1Mus musculus
T57GAGISTASGIP2Homo sapiens, Mus musculus
T57GAGISTSCGIP1Arabidopsis thaliana
T57GAGISTSAGIP1Drosophila melanogaster
V258RIHGYVDEVMT1Homo sapiens
V258VIHGLVDKVVA1Arabidopsis thaliana
V258IISSYVDVVLS1Drosophila melanogaster
V258RIHGYVDEVMC1Mus musculus
W188DTILDWEDSLP2Homo sapiens, Mus musculus
W188DTVLDWEDALP1Arabidopsis thaliana
W188DNVLDWEHDLP1Drosophila melanogaster
W71GPHGVWTMEER2Homo sapiens, Mus musculus
W71GPKGIWTLQRE1Arabidopsis thaliana
W71GPKGVWTLEEK1Drosophila melanogaster
Y257LRIHGYVDEVM2Homo sapiens, Mus musculus
Y257VVIHGLVDKVV1Arabidopsis thaliana
Y257LIISSYVDVVL1Drosophila melanogaster


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