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mutLBSgeneDB |
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| Gene summary for CYP2R1 |
 Gene summary |
| Basic gene Info. | Gene symbol | CYP2R1 |
| Gene name | cytochrome P450, family 2, subfamily R, polypeptide 1 | |
| Synonyms | - | |
| Cytomap | UCSC genome browser: 11p15.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_024514.4, | |
| Description | cytochrome P450 2R1cytochrome P450, family 2, R1vitamin D 25-hydroxylase | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 608713 | |
| HGNC : HGNC | ||
| HPRD : 10569 | ||
| Protein | UniProt: Q6VVX0 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CYP2R1 | |
| BioGPS: 120227 | ||
| Pathway | NCI Pathway Interaction Database: CYP2R1 | |
| KEGG: CYP2R1 | ||
| REACTOME: CYP2R1 | ||
| Pathway Commons: CYP2R1 | ||
| Context | iHOP: CYP2R1 | |
| ligand binding site mutation search in PubMed: CYP2R1 | ||
| UCL Cancer Institute: CYP2R1 | ||
| 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 CYP2R1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | V375 | N373S | BLCA | 1 | L238 | L238M | COAD | 1 | R137 | R138L | COAD | 1 | F144 | R145P | HNSC | 1 | L238 | G236S | HNSC | 1 | V253,L257 | D255V | LUAD | 1 | M118 | M118I | UCEC | 1 | L449 | L449I | UCEC | 1 | V318 | R320W | UCEC | 1 | A454 | R455W | 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 CYP2R1 |
| 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 | F144 | R145P | -1.6850078 | A454 | R455W | -1.250107 | V318 | R320W | -1.1830054 | L238 | L238M | -0.98357305 | V375 | N373S | -0.64632864 | L449 | L449I | -0.61347921 | M118 | M118I | -0.57948905 | R137 | R138L | -0.52964213 | L238 | G236S | -0.45338332 | L257 | D255V | -0.11796893 | V253 | D255V | -0.11796893 |
| (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 CYP2R1 from PDB |
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| Differential gene expression and gene-gene network for CYP2R1 |
| 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 CYP2R1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1838657 | Vitamin D Hydroxylation-Deficient Rickets, Type 1B | 1 | Biomarker, GeneticVariation |
| umls:C0005944 | Bone Diseases, Metabolic | 1 | Biomarker |
| umls:C0023890 | Liver Cirrhosis | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CYP2R1 |
| 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 CYP2R1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | BCD | BETA-CYCLODEXTRIN | 3c6g | B | L238 | BCD | BETA-CYCLODEXTRIN | 3czh | B | L238 | BCD | BETA-CYCLODEXTRIN | 3dl9 | B | L238 | VD3 | CALCIOL | 3c6g | A | M118 | VD3 | CALCIOL | 3c6g | B | M118 V253 V375 | D2V | VITAMIN D2 | 3czh | B | M118 V253 V375 | HEM | HEME B | 3c6g | B | R137 F144 V318 V375 A454 | HEM | HEME B | 3czh | B | R137 F144 V318 V375 A454 | HEM | HEME B | 3dl9 | A | R137 F144 V318 V375 A454 | HEM | HEME B | 3dl9 | B | R137 F144 V318 V375 A454 | HEM | HEME B | 3c6g | A | R137 F144 V318 V375 L449 A454 | HEM | HEME B | 3czh | A | R137 F144 V318 V375 L449 A454 | V2H | 1-ALPHA-HYDROXY-VITAMIN D2 | 3dl9 | B | V253 L257 | V2H | 1-ALPHA-HYDROXY-VITAMIN D2 | 3dl9 | A | V253 L257 V375 | D2V | VITAMIN D2 | 3czh | A | V375 |
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| Conservation information for LBS of CYP2R1 |
| Multiple alignments for Q6VVX0 in multiple species |
| LBS | AA sequence | # species | Species |
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