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Gene: CYP27C1 |
Gene summary for CYP27C1 |
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Gene information | Species | Human | Gene symbol | CYP27C1 | Gene ID | 339761 |
Gene name | cytochrome P450 family 27 subfamily C member 1 | |
Gene Alias | CYP27C1 | |
Cytomap | 2q14.3 | |
Gene Type | protein-coding | GO ID | GO:0001523 | UniProtAcc | A0A024RAI7 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
339761 | CYP27C1 | HCC2_Meng | Human | Liver | HCC | 7.64e-06 | 6.34e-02 | 0.0107 |
339761 | CYP27C1 | HCC1 | Human | Liver | HCC | 2.87e-12 | 1.15e+00 | 0.5336 |
339761 | CYP27C1 | HCC2 | Human | Liver | HCC | 1.13e-24 | 1.72e+00 | 0.5341 |
339761 | CYP27C1 | HCC5 | Human | Liver | HCC | 2.06e-08 | 9.14e-01 | 0.4932 |
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Tissue | Expression Dynamics | Abbreviation |
Liver | ![]() | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
∗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 |
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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). |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000606621 | Liver | HCC | alcohol metabolic process | 208/7958 | 353/18723 | 2.80e-10 | 9.50e-09 | 208 |
GO:000608112 | Liver | HCC | cellular aldehyde metabolic process | 39/7958 | 60/18723 | 3.61e-04 | 2.50e-03 | 39 |
GO:000672011 | Liver | HCC | isoprenoid metabolic process | 65/7958 | 116/18723 | 2.23e-03 | 1.11e-02 | 65 |
GO:003430812 | Liver | HCC | primary alcohol metabolic process | 55/7958 | 102/18723 | 1.30e-02 | 4.67e-02 | 55 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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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 |
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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 |
CYP27C1 | SNV | Missense_Mutation | rs764987463 | c.946C>T | p.Arg316Cys | p.R316C | Q4G0S4 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
CYP27C1 | SNV | Missense_Mutation | novel | c.965G>T | p.Arg322Ile | p.R322I | Q4G0S4 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CYP27C1 | SNV | Missense_Mutation | novel | c.265G>A | p.Glu89Lys | p.E89K | Q4G0S4 | protein_coding | tolerated(0.06) | benign(0.005) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CYP27C1 | SNV | Missense_Mutation | novel | c.642N>C | p.Leu214Phe | p.L214F | Q4G0S4 | protein_coding | deleterious(0) | benign(0.111) | TCGA-E6-A1M0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
CYP27C1 | SNV | Missense_Mutation | novel | c.965G>T | p.Arg322Ile | p.R322I | Q4G0S4 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
CYP27C1 | SNV | Missense_Mutation | rs547196058 | c.887N>A | p.Arg296Gln | p.R296Q | Q4G0S4 | protein_coding | tolerated(0.09) | possibly_damaging(0.727) | TCGA-EY-A1GU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CYP27C1 | SNV | Missense_Mutation | c.958N>T | p.Gly320Trp | p.G320W | Q4G0S4 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-EY-A215-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
CYP27C1 | SNV | Missense_Mutation | novel | c.661N>C | p.Thr221Pro | p.T221P | Q4G0S4 | protein_coding | tolerated(0.11) | benign(0.049) | TCGA-EY-A215-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CYP27C1 | SNV | Missense_Mutation | c.547G>A | p.Asp183Asn | p.D183N | Q4G0S4 | protein_coding | deleterious(0.02) | probably_damaging(0.987) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD | |
CYP27C1 | SNV | Missense_Mutation | c.299N>C | p.Tyr100Ser | p.Y100S | Q4G0S4 | protein_coding | tolerated(0.1) | possibly_damaging(0.69) | TCGA-BC-A10W-01 | Liver | liver hepatocellular carcinoma | Male | <65 | III/IV | Chemotherapy | unknown | PD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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