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mutLBSgeneDB |
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| Gene summary for PHYH |
 Gene summary |
| Basic gene Info. | Gene symbol | PHYH |
| Gene name | phytanoyl-CoA 2-hydroxylase | |
| Synonyms | LN1|LNAP1|PAHX|PHYH1|RD | |
| Cytomap | UCSC genome browser: 10p13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001037537.1, NM_006214.3, | |
| Description | phytanic acid oxidasephytanoil-CoA alpha hydroxylasephytanoyl-CoA 2 oxoglutarate dioxygenasephytanoyl-CoA alpha-hydroxylasephytanoyl-CoA dioxygenase, peroxisomal | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 602026 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000107537 | ||
| HPRD : 03609 | ||
| Vega : OTTHUMG00000017693 | ||
| Protein | UniProt: O14832 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PHYH | |
| BioGPS: 5264 | ||
| Pathway | NCI Pathway Interaction Database: PHYH | |
| KEGG: PHYH | ||
| REACTOME: PHYH | ||
| Pathway Commons: PHYH | ||
| Context | iHOP: PHYH | |
| ligand binding site mutation search in PubMed: PHYH | ||
| UCL Cancer Institute: PHYH | ||
| 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:0001561 | fatty acid alpha-oxidation | 9326939 | GO:0006720 | isoprenoid metabolic process | 11555634 | GO:0097089 | methyl-branched fatty acid metabolic process | 10744784 |
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| Ligand binding site mutations for PHYH |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R275 | A277T | LUSC | 1 | W193 | A192T | LUSC | 1 | H264 | H264N | 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 PHYH |
| 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 | H264 | H264N | -0.81227231 | W193 | A192T | -0.58849388 | R275 | A277T | -0.49315204 |
| (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 PHYH from PDB |
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| Differential gene expression and gene-gene network for PHYH |
| 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 PHYH |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0034960 | Refsum Disease | 11 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for PHYH |
| 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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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved|investigational | DB00025 | Antihemophilic Factor (Recombinant) | Biotech |  |
| Approved|nutraceutical | DB00126 | Vitamin C | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of PHYH go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | FE2 | IRON(2+) | 2a1x | A | H264 | AKG | 2-OXOGLUTARIC ACID | 2a1x | A | W193 H264 R275 |
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| Conservation information for LBS of PHYH |
| Multiple alignments for O14832 in multiple species |
| LBS | AA sequence | # species | Species | D177 | HPLHQDLHYFP | 3 | Homo sapiens, Mus musculus, Bos taurus | D177 | HPMHQDLQYFP | 1 | Caenorhabditis elegans | D177 | HPLHQDLHFFP | 1 | Rattus norvegicus | H175 | SRHPLHQDLHY | 3 | Homo sapiens, Mus musculus, Bos taurus | H175 | SRHPMHQDLQY | 1 | Caenorhabditis elegans | H175 | SRHPLHQDLHF | 1 | Rattus norvegicus | H264 | HPLLIHGSGRN | 3 | Mus musculus, Rattus norvegicus, Bos taurus | H264 | HPLLIHGSGQN | 1 | Homo sapiens | H264 | HPILIHGSGAN | 1 | Caenorhabditis elegans | I159 | MHTMLINKPPD | 4 | Homo sapiens, Caenorhabditis elegans, Rattus norvegicus, Bos taurus | I159 | LHGMLINKPPD | 1 | Mus musculus | K120 | EKMITKVQDFQ | 1 | Homo sapiens | K120 | EKAITKIQDFA | 1 | Caenorhabditis elegans | K120 | DRMVSKIQDFQ | 1 | Mus musculus | K120 | ERVVTKIQDFQ | 1 | Rattus norvegicus | K120 | EKVVSKVQDFQ | 1 | Bos taurus | M157 | MAMHTMLINKP | 4 | Homo sapiens, Caenorhabditis elegans, Rattus norvegicus, Bos taurus | M157 | MALHGMLINKP | 1 | Mus musculus | R275 | KTQGFRKAISC | 2 | Homo sapiens, Mus musculus | R275 | RTEGFRKAISC | 1 | Caenorhabditis elegans | R275 | RTQGFRKAISC | 1 | Rattus norvegicus | R275 | KSQGFRKAISC | 1 | Bos taurus | S266 | LLIHGSGQNKT | 1 | Homo sapiens | S266 | ILIHGSGANRT | 1 | Caenorhabditis elegans | S266 | LLIHGSGRNKT | 1 | Mus musculus | S266 | LLIHGSGRNRT | 1 | Rattus norvegicus | S266 | LLIHGSGRNKS | 1 | Bos taurus | W193 | LIVCAWTAMEH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | W193 | FICCAWTAMEK | 1 | Caenorhabditis elegans | W193 | SIVCAWTAMEH | 1 | Bos taurus |
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