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 COQ9
Gene summary
Basic gene Info.Gene symbolCOQ9
Gene namecoenzyme Q9
CytomapUCSC genome browser: 16q21
Type of geneprotein-coding
Descriptioncoenzyme Q9 homologubiquinone biosynthesis protein COQ9, mitochondrial
Modification date20141207
dbXrefs MIM : 612837
Ensembl : ENSG00000088682
HPRD : 13157
Vega : OTTHUMG00000176582
ProteinUniProt: O75208
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_COQ9
BioGPS: 57017
PathwayNCI Pathway Interaction Database: COQ9
Pathway Commons: COQ9
ContextiHOP: COQ9
ligand binding site mutation search in PubMed: COQ9
UCL Cancer Institute: COQ9
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 COQ9
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 COQ9
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 COQ9 from PDB

Differential gene expression and gene-gene network for COQ9
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 COQ9 and the right PPI network was created from samples without mutations in the LBS of COQ9. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for COQ9
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

Pharmacological information for COQ9
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 COQ9 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of COQ9
Multiple alignments for O75208 in multiple species
LBSAA sequence# speciesSpecies
A248RRAVLAGIYNT3Bos taurus, Mus musculus, Rattus norvegicus
A248RRAMLAAIYNT1Homo sapiens
A248KRLAVSSTYIG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A248KRAAVAMAYVS1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
A248RRVGLATIMKM1Drosophila melanogaster
A248KRAAISAIYSA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A248RRAVLTGIYNT1Xenopus tropicalis
A249RAVLAGIYNTT3Bos taurus, Mus musculus, Rattus norvegicus
A249RAMLAAIYNTT1Homo sapiens
A249RLAVSSTYIGS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A249RAAVAMAYVST1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
A249RVGLATIMKMT1Drosophila melanogaster
A249RAAISAIYSAS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A249RAVLTGIYNTT1Xenopus tropicalis
L217-IPPSLNLLTS2Bos taurus, Mus musculus
L217-IPSSLSLLTS1Homo sapiens
L217LFETAIPELHR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L217LVNTAMPELFR1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
L217-APTALAQVLT1Drosophila melanogaster
L217-LRKSLSSLAE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L217-IPSSLKLLTA1Xenopus tropicalis
L217-IPPSLSLLTS1Rattus norvegicus
N252LAGIYNTTELV3Bos taurus, Mus musculus, Rattus norvegicus
N252LAAIYNTTELV1Homo sapiens
N252VSSTYIGSKLF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N252VAMAYVSTNLF1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
N252LATIMKMTELY1Drosophila melanogaster
N252ISAIYSASELF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N252LTGIYNTTELV1Xenopus tropicalis
R244NWYTRRAVLAG3Bos taurus, Mus musculus, Rattus norvegicus
R244NWYTRRAMLAA1Homo sapiens
R244AWYAKRLAVSS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R244AWYSKRAAVAM1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
R244GWYTRRVGLAT1Drosophila melanogaster
R244QWYTKRAAISA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R244SWYTRRAVLTG1Xenopus tropicalis
W240-TDFNWYTRRA4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
W240HHDSAWYAKRL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
W240HPDLAWYSKRA1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
W240-VDFGWYTRRV1Drosophila melanogaster
W240-ADFQWYTKRA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W240-TDVSWYTRRA1Xenopus tropicalis
Y241TDFNWYTRRAV3Bos taurus, Mus musculus, Rattus norvegicus
Y241TDFNWYTRRAM1Homo sapiens
Y241HDSAWYAKRLA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y241PDLAWYSKRAA1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
Y241VDFGWYTRRVG1Drosophila melanogaster
Y241ADFQWYTKRAA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y241TDVSWYTRRAV1Xenopus tropicalis

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