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mutLBSgeneDB |
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| Gene summary for OXSM |
 Gene summary |
| Basic gene Info. | Gene symbol | OXSM |
| Gene name | 3-oxoacyl-ACP synthase, mitochondrial | |
| Synonyms | FASN2D|KASI|KS | |
| Cytomap | UCSC genome browser: 3p24.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001145391.1, NM_017897.2,NR_026937.1, | |
| Description | 3-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 date | 20141207 | |
| dbXrefs | MIM : 610324 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000151093 | ||
| HPRD : 07931 | ||
| Vega : OTTHUMG00000130477 | ||
| Protein | UniProt: Q9NWU1 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_OXSM | |
| BioGPS: 54995 | ||
| Pathway | NCI Pathway Interaction Database: OXSM | |
| KEGG: OXSM | ||
| REACTOME: OXSM | ||
| Pathway Commons: OXSM | ||
| Context | iHOP: OXSM | |
| ligand binding site mutation search in PubMed: OXSM | ||
| UCL Cancer Institute: OXSM | ||
| 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 | GO:0006637 | acyl-CoA metabolic process | 15668256 | GO:0051790 | short-chain fatty acid biosynthetic process | 15668256 | GO:0051792 | medium-chain fatty acid biosynthetic process | 15668256 |
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| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | D237 | D237N | COAD | 1 | L387 | H385R | OV | 1 | L387 | A389V | STAD | 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 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 |
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| 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 | L387 | A389V | -0.70812538 | D237 | D237N | -0.70320705 | L387 | H385R | -0.1765218 |
| (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 |
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| 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) |
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| Phenotype information for OXSM |
| 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 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. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of OXSM go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | 6NA | CAPROIC ACID | 2iwz | B | D237 L387 |
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| Conservation information for LBS of OXSM |
| Multiple alignments for Q9NWU1 in multiple species |
| LBS | AA sequence | # species | Species | A208 | HAVSTACTTGA | 2 | Homo sapiens, Bos taurus | A208 | HSVSTACATGN | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | A208 | HTTTTACAAGC | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | A208 | HAAVTACATGA | 1 | Arabidopsis thaliana | A208 | HSVSTACTTGA | 1 | Mus musculus | C209 | AVSTACTTGAH | 2 | Homo sapiens, Bos taurus | C209 | SVSTACATGNN | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | C209 | TTTTACAAGCH | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | C209 | AAVTACATGAH | 1 | Arabidopsis thaliana | C209 | SVSTACTTGAH | 1 | Mus musculus | D237 | VAGGTDSCISP | 3 | Homo sapiens, Bos taurus, Mus musculus | D237 | VAGASETSLHP | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | D237 | IAGGSESCINP | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | D237 | VAGGTESSIDA | 1 | Arabidopsis thaliana | F248 | LSLAGFSRARA | 2 | Homo sapiens, Mus musculus | F248 | LSLAGFIRAKS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | F248 | LTVAGFSKARS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | F248 | LSVAGFSRSRA | 1 | Arabidopsis thaliana | F248 | LSLAGFARARA | 1 | Bos taurus | F447 | TNSFGFGGTNA | 3 | Homo sapiens, Bos taurus, Mus musculus | F447 | SNSFGFGGTNA | 2 | Schizosaccharomyces pombe (strain 972 / ATCC 24843), Arabidopsis thaliana | F447 | CNSFGFGGVNT | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G153 | VAIGMGMVPLE | 2 | Bos taurus, Mus musculus | G153 | VAIGMGMIPLE | 1 | Homo sapiens | G153 | CLIGSGIGSIQ | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G153 | VCFGTGIGNLD | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G153 | VSIGGGIGSIC | 1 | Arabidopsis thaliana | G446 | LTNSFGFGGTN | 3 | Homo sapiens, Bos taurus, Mus musculus | G446 | LCNSFGFGGVN | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G446 | LSNSFGFGGTN | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G446 | MSNSFGFGGTN | 1 | Arabidopsis thaliana | L387 | ATGHLLGAAGA | 3 | Homo sapiens, Arabidopsis thaliana, Mus musculus | L387 | AIGHLLGAAGA | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | L387 | SIGHLLGAAGA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L387 | ATGHLLGTAGA | 1 | Bos taurus | M154 | AIGMGMVPLEV | 2 | Bos taurus, Mus musculus | M154 | AIGMGMIPLEV | 1 | Homo sapiens | M154 | LIGSGIGSIQD | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | M154 | CFGTGIGNLDD | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | M154 | SIGGGIGSICD | 1 | Arabidopsis thaliana |
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