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mutLBSgeneDB |
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| Gene summary for CPOX |
 Gene summary |
| Basic gene Info. | Gene symbol | CPOX |
| Gene name | coproporphyrinogen oxidase | |
| Synonyms | CPO|CPX|HCP | |
| Cytomap | UCSC genome browser: 3q12 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000097.5, | |
| Description | COXcoprogen oxidasecoproporphyrinogen-III oxidase, mitochondrialcoproporphyrinogenaseoxygen-dependent coproporphyrinogen-III oxidase, mitochondrial | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 612732 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000080819 | ||
| HPRD : 00417 | ||
| Vega : OTTHUMG00000160016 | ||
| Protein | UniProt: P36551 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CPOX | |
| BioGPS: 1371 | ||
| Pathway | NCI Pathway Interaction Database: CPOX | |
| KEGG: CPOX | ||
| REACTOME: CPOX | ||
| Pathway Commons: CPOX | ||
| Context | iHOP: CPOX | |
| ligand binding site mutation search in PubMed: CPOX | ||
| UCL Cancer Institute: CPOX | ||
| 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 CPOX |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | S244 | V243M | UCEC | 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 CPOX |
| 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 | S244 | V243M | -0.86630985 |
| (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 CPOX from PDB |
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| Differential gene expression and gene-gene network for CPOX |
| 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 CPOX |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0162531 | Coproporphyria, Hereditary | 27 | Biomarker, GeneticVariation |
| umls:C0342859 | Harderoporphyria | 7 | Biomarker, GeneticVariation |
| umls:C0162566 | Porphyria Cutanea Tarda | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CPOX |
| 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 CPOX go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CIT | CITRIC ACID | 2aex | A | S244 |
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| Conservation information for LBS of CPOX |
| Multiple alignments for P36551 in multiple species |
| LBS | AA sequence | # species | Species | G406 | RGTKFGLFTPG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G406 | RGTTFGLKT-G | 2 | Arabidopsis thaliana, Oryza sativa subsp. japonica | G406 | RGTKFGLYTPG | 1 | Drosophila melanogaster | G406 | RGTWFGLQAPE | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G406 | RGTQFGLRTPG | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G411 | GLFTPGSRIES | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G411 | GLKT-GGRIES | 2 | Arabidopsis thaliana, Oryza sativa subsp. japonica | G411 | GLYTPGARYES | 1 | Drosophila melanogaster | G411 | GLQAPEPRVES | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G411 | GLRTPGSRVES | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H258 | FAPTLHFNYRY | 2 | Arabidopsis thaliana, Oryza sativa subsp. japonica | H258 | YAPTMHFNYRY | 2 | Mus musculus, Rattus norvegicus | H258 | HAPTIHFNYRY | 1 | Homo sapiens | H258 | HVPTIHFNYRY | 1 | Drosophila melanogaster | H258 | MAPTTHLNYRY | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H258 | HAPTTHLNYRY | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | L407 | GTKFGLFTPGS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L407 | GTTFGLKT-GG | 2 | Arabidopsis thaliana, Oryza sativa subsp. japonica | L407 | GTKFGLYTPGA | 1 | Drosophila melanogaster | L407 | GTWFGLQAPEP | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L407 | GTQFGLRTPGS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | N260 | PTIHFNYRYFE | 2 | Homo sapiens, Drosophila melanogaster | N260 | PTLHFNYRYFE | 2 | Arabidopsis thaliana, Oryza sativa subsp. japonica | N260 | PTMHFNYRYFE | 2 | Mus musculus, Rattus norvegicus | N260 | PTTHLNYRYFE | 2 | Schizosaccharomyces pombe (strain 972 / ATCC 24843), Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R262 | IHFNYRYFEVE | 2 | Homo sapiens, Drosophila melanogaster | R262 | LHFNYRYFETD | 2 | Arabidopsis thaliana, Oryza sativa subsp. japonica | R262 | MHFNYRYFEVE | 2 | Mus musculus, Rattus norvegicus | R262 | THLNYRYFELV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R262 | THLNYRYFETW | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R413 | FTPGSRIESIL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R413 | KT-GGRIESIL | 2 | Arabidopsis thaliana, Oryza sativa subsp. japonica | R413 | YTPGARYESIL | 1 | Drosophila melanogaster | R413 | QAPEPRVESIL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R413 | RTPGSRVESIL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | S244 | CAMGVSSVIHP | 1 | Homo sapiens | S244 | FAAGVSSVLHP | 1 | Arabidopsis thaliana | S244 | FAAGISSVLHP | 1 | Oryza sativa subsp. japonica | S244 | FASGVSAVIHP | 1 | Drosophila melanogaster | S244 | TAMGVSSVIHP | 1 | Mus musculus | S244 | TAMGISSVIHP | 1 | Rattus norvegicus | S244 | FAAGISMVIHP | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S244 | FACGLSMVIHP | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | S412 | LFTPGSRIESI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S412 | LKT-GGRIESI | 2 | Arabidopsis thaliana, Oryza sativa subsp. japonica | S412 | LYTPGARYESI | 1 | Drosophila melanogaster | S412 | LQAPEPRVESI | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S412 | LRTPGSRVESI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | S416 | GSRIESILMSL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S416 | GGRIESILVSL | 2 | Arabidopsis thaliana, Oryza sativa subsp. japonica | S416 | GARYESILMSL | 1 | Drosophila melanogaster | S416 | EPRVESILMTL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S416 | GSRVESILMSL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) |
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