mutLBSgeneDB |
Gene summary for COQ9 |
Gene summary |
Basic gene Info. | Gene symbol | COQ9 |
Gene name | coenzyme Q9 | |
Synonyms | C16orf49|COQ10D5 | |
Cytomap | UCSC genome browser: 16q21 | |
Type of gene | protein-coding | |
RefGenes | NM_020312.3, | |
Description | coenzyme Q9 homologubiquinone biosynthesis protein COQ9, mitochondrial | |
Modification date | 20141207 | |
dbXrefs | MIM : 612837 | |
HGNC : HGNC | ||
Ensembl : ENSG00000088682 | ||
HPRD : 13157 | ||
Vega : OTTHUMG00000176582 | ||
Protein | UniProt: O75208 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_COQ9 | |
BioGPS: 57017 | ||
Pathway | NCI Pathway Interaction Database: COQ9 | |
KEGG: COQ9 | ||
REACTOME: COQ9 | ||
Pathway Commons: COQ9 | ||
Context | iHOP: COQ9 | |
ligand binding site mutation search in PubMed: COQ9 | ||
UCL Cancer Institute: COQ9 | ||
Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO Term | PubMed ID |
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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 |
LBS | AAchange of nsSNV | Cancer type | # samples | A248 | A248V | COAD | 1 |
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 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. |
LBS | AAchange of nsSNV | Relative stability change | A248 | A248V | -0.14917822 |
(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 |
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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) |
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Phenotype information for COQ9 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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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 status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of COQ9 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | PEF | PE(16:0/16:0) | 4rhp | A | A248 |
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Conservation information for LBS of COQ9 |
Multiple alignments for O75208 in multiple species |
LBS | AA sequence | # species | Species | A248 | RRAVLAGIYNT | 3 | Bos taurus, Mus musculus, Rattus norvegicus | A248 | RRAMLAAIYNT | 1 | Homo sapiens | A248 | KRLAVSSTYIG | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | A248 | KRAAVAMAYVS | 1 | Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056) | A248 | RRVGLATIMKM | 1 | Drosophila melanogaster | A248 | KRAAISAIYSA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | A248 | RRAVLTGIYNT | 1 | Xenopus tropicalis | A249 | RAVLAGIYNTT | 3 | Bos taurus, Mus musculus, Rattus norvegicus | A249 | RAMLAAIYNTT | 1 | Homo sapiens | A249 | RLAVSSTYIGS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | A249 | RAAVAMAYVST | 1 | Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056) | A249 | RVGLATIMKMT | 1 | Drosophila melanogaster | A249 | RAAISAIYSAS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | A249 | RAVLTGIYNTT | 1 | Xenopus tropicalis | L217 | -IPPSLNLLTS | 2 | Bos taurus, Mus musculus | L217 | -IPSSLSLLTS | 1 | Homo sapiens | L217 | LFETAIPELHR | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | L217 | LVNTAMPELFR | 1 | Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056) | L217 | -APTALAQVLT | 1 | Drosophila melanogaster | L217 | -LRKSLSSLAE | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L217 | -IPSSLKLLTA | 1 | Xenopus tropicalis | L217 | -IPPSLSLLTS | 1 | Rattus norvegicus | N252 | LAGIYNTTELV | 3 | Bos taurus, Mus musculus, Rattus norvegicus | N252 | LAAIYNTTELV | 1 | Homo sapiens | N252 | VSSTYIGSKLF | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | N252 | VAMAYVSTNLF | 1 | Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056) | N252 | LATIMKMTELY | 1 | Drosophila melanogaster | N252 | ISAIYSASELF | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | N252 | LTGIYNTTELV | 1 | Xenopus tropicalis | R244 | NWYTRRAVLAG | 3 | Bos taurus, Mus musculus, Rattus norvegicus | R244 | NWYTRRAMLAA | 1 | Homo sapiens | R244 | AWYAKRLAVSS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R244 | AWYSKRAAVAM | 1 | Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056) | R244 | GWYTRRVGLAT | 1 | Drosophila melanogaster | R244 | QWYTKRAAISA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R244 | SWYTRRAVLTG | 1 | Xenopus tropicalis | W240 | -TDFNWYTRRA | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | W240 | HHDSAWYAKRL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | W240 | HPDLAWYSKRA | 1 | Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056) | W240 | -VDFGWYTRRV | 1 | Drosophila melanogaster | W240 | -ADFQWYTKRA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | W240 | -TDVSWYTRRA | 1 | Xenopus tropicalis | Y241 | TDFNWYTRRAV | 3 | Bos taurus, Mus musculus, Rattus norvegicus | Y241 | TDFNWYTRRAM | 1 | Homo sapiens | Y241 | HDSAWYAKRLA | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Y241 | PDLAWYSKRAA | 1 | Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056) | Y241 | VDFGWYTRRVG | 1 | Drosophila melanogaster | Y241 | ADFQWYTKRAA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Y241 | TDVSWYTRRAV | 1 | Xenopus tropicalis |
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