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 OXSM
Gene summary
Basic gene Info.Gene symbolOXSM
Gene name3-oxoacyl-ACP synthase, mitochondrial
CytomapUCSC genome browser: 3p24.2
Type of geneprotein-coding
Description3-ketoacyl-acyl carrier protein synthase3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial3-oxoacyl-acyl-carrier-protein synthaseacyl-malonyl acyl carrier protein-condensing enzymebeta-ketoacyl synthasebeta-ketoacyl-ACP synthasetype II mitocho
Modification date20141207
dbXrefs MIM : 610324
Ensembl : ENSG00000151093
HPRD : 07931
Vega : OTTHUMG00000130477
ProteinUniProt: Q9NWU1
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_OXSM
BioGPS: 54995
PathwayNCI Pathway Interaction Database: OXSM
Pathway Commons: OXSM
ContextiHOP: OXSM
ligand binding site mutation search in PubMed: OXSM
UCL Cancer Institute: OXSM
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0006637acyl-CoA metabolic process15668256
GO:0051790short-chain fatty acid biosynthetic process15668256
GO:0051792medium-chain fatty acid biosynthetic process15668256

Ligand binding site mutations for OXSM
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 OXSM
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 OXSM from PDB

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


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

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

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

Conservation information for LBS of OXSM
Multiple alignments for Q9NWU1 in multiple species
LBSAA sequence# speciesSpecies
A208HAVSTACTTGA2Homo sapiens, Bos taurus
A208HSVSTACATGN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A208HTTTTACAAGC1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A208HAAVTACATGA1Arabidopsis thaliana
A208HSVSTACTTGA1Mus musculus
C209AVSTACTTGAH2Homo sapiens, Bos taurus
C209SVSTACATGNN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
C209TTTTACAAGCH1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C209AAVTACATGAH1Arabidopsis thaliana
C209SVSTACTTGAH1Mus musculus
D237VAGGTDSCISP3Homo sapiens, Bos taurus, Mus musculus
D237VAGASETSLHP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D237IAGGSESCINP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D237VAGGTESSIDA1Arabidopsis thaliana
F248LSLAGFSRARA2Homo sapiens, Mus musculus
F248LSLAGFIRAKS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F248LTVAGFSKARS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F248LSVAGFSRSRA1Arabidopsis thaliana
F248LSLAGFARARA1Bos taurus
F447TNSFGFGGTNA3Homo sapiens, Bos taurus, Mus musculus
F447SNSFGFGGTNA2Schizosaccharomyces pombe (strain 972 / ATCC 24843), Arabidopsis thaliana
F447CNSFGFGGVNT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G153VAIGMGMVPLE2Bos taurus, Mus musculus
G153VAIGMGMIPLE1Homo sapiens
G153CLIGSGIGSIQ1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G153VCFGTGIGNLD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G153VSIGGGIGSIC1Arabidopsis thaliana
G446LTNSFGFGGTN3Homo sapiens, Bos taurus, Mus musculus
G446LCNSFGFGGVN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G446LSNSFGFGGTN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G446MSNSFGFGGTN1Arabidopsis thaliana
L387ATGHLLGAAGA3Homo sapiens, Arabidopsis thaliana, Mus musculus
L387AIGHLLGAAGA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L387SIGHLLGAAGA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L387ATGHLLGTAGA1Bos taurus
M154AIGMGMVPLEV2Bos taurus, Mus musculus
M154AIGMGMIPLEV1Homo sapiens
M154LIGSGIGSIQD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M154CFGTGIGNLDD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M154SIGGGIGSICD1Arabidopsis thaliana

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