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Gene: CYP2R1 |
Gene summary for CYP2R1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | CYP2R1 | Gene ID | 120227 |
| Gene name | cytochrome P450 family 2 subfamily R member 1 | |
| Gene Alias | CYP2R1 | |
| Cytomap | 11p15.2 | |
| Gene Type | protein-coding | GO ID | GO:0006066 | UniProtAcc | Q6VVX0 |
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Malignant transformation analysis |
| Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
| Malignant transformation involving gene list. |
| Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
| 120227 | CYP2R1 | LZE4T | Human | Esophagus | ESCC | 1.55e-02 | 7.97e-02 | 0.0811 |
| 120227 | CYP2R1 | LZE7T | Human | Esophagus | ESCC | 8.56e-03 | 2.01e-01 | 0.0667 |
| 120227 | CYP2R1 | LZE20T | Human | Esophagus | ESCC | 1.57e-04 | 1.45e-01 | 0.0662 |
| 120227 | CYP2R1 | LZE24T | Human | Esophagus | ESCC | 3.15e-08 | 2.74e-01 | 0.0596 |
| 120227 | CYP2R1 | LZE21T | Human | Esophagus | ESCC | 9.71e-06 | 3.78e-01 | 0.0655 |
| 120227 | CYP2R1 | LZE6T | Human | Esophagus | ESCC | 1.34e-04 | 2.51e-01 | 0.0845 |
| 120227 | CYP2R1 | P1T-E | Human | Esophagus | ESCC | 1.95e-10 | 3.17e-01 | 0.0875 |
| 120227 | CYP2R1 | P2T-E | Human | Esophagus | ESCC | 3.12e-12 | 2.19e-01 | 0.1177 |
| 120227 | CYP2R1 | P4T-E | Human | Esophagus | ESCC | 3.03e-08 | 1.98e-01 | 0.1323 |
| 120227 | CYP2R1 | P8T-E | Human | Esophagus | ESCC | 2.20e-11 | 1.49e-01 | 0.0889 |
| 120227 | CYP2R1 | P9T-E | Human | Esophagus | ESCC | 1.23e-06 | 1.52e-01 | 0.1131 |
| 120227 | CYP2R1 | P10T-E | Human | Esophagus | ESCC | 5.90e-18 | 2.45e-01 | 0.116 |
| 120227 | CYP2R1 | P11T-E | Human | Esophagus | ESCC | 6.82e-13 | 3.85e-01 | 0.1426 |
| 120227 | CYP2R1 | P12T-E | Human | Esophagus | ESCC | 1.35e-15 | 3.51e-01 | 0.1122 |
| 120227 | CYP2R1 | P15T-E | Human | Esophagus | ESCC | 4.14e-10 | 1.73e-01 | 0.1149 |
| 120227 | CYP2R1 | P16T-E | Human | Esophagus | ESCC | 3.12e-18 | 1.54e-01 | 0.1153 |
| 120227 | CYP2R1 | P17T-E | Human | Esophagus | ESCC | 3.30e-03 | 1.27e-01 | 0.1278 |
| 120227 | CYP2R1 | P20T-E | Human | Esophagus | ESCC | 2.35e-09 | 2.77e-01 | 0.1124 |
| 120227 | CYP2R1 | P21T-E | Human | Esophagus | ESCC | 2.84e-10 | 1.79e-01 | 0.1617 |
| 120227 | CYP2R1 | P22T-E | Human | Esophagus | ESCC | 1.58e-13 | 2.34e-01 | 0.1236 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias |
| ∗log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage. |
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Malignant transformation related pathway analysis |
| Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
| Figure of enriched GO biological processes. |
| Tissue | Disease Stage | Enriched GO biological Processes |
| Colorectum | AD |  |
| Colorectum | SER |  |
| Colorectum | MSS |  |
| Colorectum | MSI-H |  |
| Colorectum | FAP |  |
| ∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:001021217 | Esophagus | ESCC | response to ionizing radiation | 110/8552 | 148/18723 | 1.11e-12 | 4.78e-11 | 110 |
| GO:000931419 | Esophagus | ESCC | response to radiation | 277/8552 | 456/18723 | 4.42e-11 | 1.43e-09 | 277 |
| GO:00060668 | Esophagus | ESCC | alcohol metabolic process | 202/8552 | 353/18723 | 7.32e-06 | 7.26e-05 | 202 |
| GO:000941020 | Esophagus | ESCC | response to xenobiotic stimulus | 253/8552 | 462/18723 | 4.55e-05 | 3.58e-04 | 253 |
| GO:001003827 | Esophagus | ESCC | response to metal ion | 208/8552 | 373/18723 | 5.02e-05 | 3.90e-04 | 208 |
| GO:00067661 | Esophagus | ESCC | vitamin metabolic process | 67/8552 | 106/18723 | 2.03e-04 | 1.28e-03 | 67 |
| GO:19026524 | Esophagus | ESCC | secondary alcohol metabolic process | 87/8552 | 147/18723 | 6.58e-04 | 3.50e-03 | 87 |
| GO:00461653 | Esophagus | ESCC | alcohol biosynthetic process | 83/8552 | 140/18723 | 8.04e-04 | 4.16e-03 | 83 |
| GO:00066946 | Esophagus | ESCC | steroid biosynthetic process | 98/8552 | 173/18723 | 2.34e-03 | 1.03e-02 | 98 |
| GO:19016174 | Esophagus | ESCC | organic hydroxy compound biosynthetic process | 128/8552 | 237/18723 | 5.86e-03 | 2.16e-02 | 128 |
| GO:0009110 | Esophagus | ESCC | vitamin biosynthetic process | 15/8552 | 20/18723 | 7.60e-03 | 2.71e-02 | 15 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa001005 | Esophagus | ESCC | Steroid biosynthesis | 18/4205 | 20/8465 | 1.78e-04 | 6.79e-04 | 3.48e-04 | 18 |
| hsa0010012 | Esophagus | ESCC | Steroid biosynthesis | 18/4205 | 20/8465 | 1.78e-04 | 6.79e-04 | 3.48e-04 | 18 |
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Cell-cell communication analysis |
| Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
| Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
| Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
| TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
| ∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
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Somatic mutation of malignant transformation related genes |
| Annotation of somatic variants for genes involved in malignant transformation |
| Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
| CYP2R1 | SNV | Missense_Mutation | novel | c.1370N>G | p.Glu457Gly | p.E457G | Q6VVX0 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A2-A0D0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
| CYP2R1 | SNV | Missense_Mutation | novel | c.1370A>G | p.Glu457Gly | p.E457G | Q6VVX0 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-D8-A1X7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | ChemotherapyHormone Therapy | doxorubicine+cyclophosphamide+tamoxifen | SD |
| CYP2R1 | SNV | Missense_Mutation | c.908N>T | p.Ser303Leu | p.S303L | Q6VVX0 | protein_coding | deleterious(0.02) | benign(0.106) | TCGA-Q1-A73O-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
| CYP2R1 | SNV | Missense_Mutation | novel | c.961N>C | p.Trp321Arg | p.W321R | Q6VVX0 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A6-2672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
| CYP2R1 | SNV | Missense_Mutation | novel | c.1360G>A | p.Ala454Thr | p.A454T | Q6VVX0 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AA-3949-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
| CYP2R1 | SNV | Missense_Mutation | rs61744571 | c.310G>A | p.Glu104Lys | p.E104K | Q6VVX0 | protein_coding | deleterious(0.01) | possibly_damaging(0.773) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
| CYP2R1 | SNV | Missense_Mutation | c.712N>A | p.Leu238Met | p.L238M | Q6VVX0 | protein_coding | tolerated(0.08) | possibly_damaging(0.791) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR | |
| CYP2R1 | SNV | Missense_Mutation | novel | c.1390G>A | p.Ala464Thr | p.A464T | Q6VVX0 | protein_coding | tolerated(0.25) | benign(0.012) | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
| CYP2R1 | SNV | Missense_Mutation | novel | c.868G>T | p.Asp290Tyr | p.D290Y | Q6VVX0 | protein_coding | deleterious(0) | benign(0.381) | TCGA-F5-6814-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
| CYP2R1 | SNV | Missense_Mutation | c.616G>A | p.Asp206Asn | p.D206N | Q6VVX0 | protein_coding | tolerated(0.18) | benign(0.001) | TCGA-F5-6814-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
| Identification of chemicals and drugs interact with genes involved in malignant transfromation |
| (DGIdb 4.0) |
| Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
| 120227 | CYP2R1 | CYTOCHROME P450, DRUGGABLE GENOME, ENZYME | ribavirin | RIBAVIRIN | ||
| 120227 | CYP2R1 | CYTOCHROME P450, DRUGGABLE GENOME, ENZYME | calcidiol | CALCIFEDIOL | 26661839 | |
| 120227 | CYP2R1 | CYTOCHROME P450, DRUGGABLE GENOME, ENZYME | peginterferon alfa-2b |
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