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Gene: C1orf52 |
Gene summary for C1ORF52 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | C1orf52 | Gene ID | 148423 |
| Gene name | chromosome 1 open reading frame 52 | |
| Gene Alias | gm117 | |
| Cytomap | 1p22.3 | |
| Gene Type | protein-coding | GO ID | GO:0005575 | UniProtAcc | Q8N6N3 |
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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 |
| 148423 | C1orf52 | LZE4T | Human | Esophagus | ESCC | 1.53e-12 | 3.15e-01 | 0.0811 |
| 148423 | C1orf52 | LZE7T | Human | Esophagus | ESCC | 3.02e-12 | 5.28e-01 | 0.0667 |
| 148423 | C1orf52 | LZE8T | Human | Esophagus | ESCC | 1.04e-10 | 2.51e-01 | 0.067 |
| 148423 | C1orf52 | LZE20T | Human | Esophagus | ESCC | 2.10e-09 | 3.51e-01 | 0.0662 |
| 148423 | C1orf52 | LZE21D1 | Human | Esophagus | HGIN | 3.53e-02 | 4.50e-02 | 0.0632 |
| 148423 | C1orf52 | LZE22T | Human | Esophagus | ESCC | 2.92e-02 | 3.31e-01 | 0.068 |
| 148423 | C1orf52 | LZE24T | Human | Esophagus | ESCC | 1.54e-23 | 4.91e-01 | 0.0596 |
| 148423 | C1orf52 | LZE6T | Human | Esophagus | ESCC | 2.78e-06 | 1.28e-01 | 0.0845 |
| 148423 | C1orf52 | P1T-E | Human | Esophagus | ESCC | 2.81e-09 | 5.92e-01 | 0.0875 |
| 148423 | C1orf52 | P2T-E | Human | Esophagus | ESCC | 6.36e-31 | 7.39e-01 | 0.1177 |
| 148423 | C1orf52 | P4T-E | Human | Esophagus | ESCC | 2.25e-31 | 6.07e-01 | 0.1323 |
| 148423 | C1orf52 | P5T-E | Human | Esophagus | ESCC | 2.02e-37 | 6.95e-01 | 0.1327 |
| 148423 | C1orf52 | P8T-E | Human | Esophagus | ESCC | 2.51e-19 | 4.56e-01 | 0.0889 |
| 148423 | C1orf52 | P9T-E | Human | Esophagus | ESCC | 2.09e-21 | 4.29e-01 | 0.1131 |
| 148423 | C1orf52 | P10T-E | Human | Esophagus | ESCC | 6.15e-47 | 9.02e-01 | 0.116 |
| 148423 | C1orf52 | P11T-E | Human | Esophagus | ESCC | 1.22e-26 | 7.10e-01 | 0.1426 |
| 148423 | C1orf52 | P12T-E | Human | Esophagus | ESCC | 1.04e-95 | 2.19e+00 | 0.1122 |
| 148423 | C1orf52 | P15T-E | Human | Esophagus | ESCC | 2.06e-34 | 6.93e-01 | 0.1149 |
| 148423 | C1orf52 | P16T-E | Human | Esophagus | ESCC | 6.41e-25 | 5.00e-01 | 0.1153 |
| 148423 | C1orf52 | P17T-E | Human | Esophagus | ESCC | 1.98e-15 | 3.39e-01 | 0.1278 |
| Page: 1 2 3 4 5 6 |
| 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 | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Thyroid |  | ATC: Anaplastic thyroid cancer |
| HT: Hashimoto's thyroiditis | ||
| PTC: Papillary thyroid cancer |
| ∗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 |
| Page: 1 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| Page: 1 |
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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 |
| Page: 1 |
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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. |
| Page: 1 |
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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 |
| C1orf52 | SNV | Missense_Mutation | novel | c.326N>C | p.Glu109Ala | p.E109A | Q8N6N3 | protein_coding | deleterious(0) | possibly_damaging(0.783) | TCGA-A8-A0AB-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
| C1orf52 | SNV | Missense_Mutation | novel | c.251N>T | p.Arg84Met | p.R84M | Q8N6N3 | protein_coding | deleterious(0.03) | possibly_damaging(0.895) | TCGA-AA-3950-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| C1orf52 | SNV | Missense_Mutation | rs750091650 | c.508N>T | p.Arg170Cys | p.R170C | Q8N6N3 | protein_coding | tolerated(0.06) | benign(0.011) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR |
| C1orf52 | SNV | Missense_Mutation | novel | c.514G>T | p.Val172Leu | p.V172L | Q8N6N3 | protein_coding | tolerated(0.4) | benign(0.009) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
| C1orf52 | SNV | Missense_Mutation | novel | c.458N>G | p.Glu153Gly | p.E153G | Q8N6N3 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AJ-A3OJ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
| C1orf52 | SNV | Missense_Mutation | novel | c.401N>G | p.Asp134Gly | p.D134G | Q8N6N3 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AJ-A5DW-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| C1orf52 | SNV | Missense_Mutation | c.118N>A | p.Asp40Asn | p.D40N | Q8N6N3 | protein_coding | tolerated_low_confidence(0.48) | benign(0.063) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| C1orf52 | SNV | Missense_Mutation | novel | c.287N>G | p.Glu96Gly | p.E96G | Q8N6N3 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-B5-A1MR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
| C1orf52 | SNV | Missense_Mutation | rs750091650 | c.508C>T | p.Arg170Cys | p.R170C | Q8N6N3 | protein_coding | tolerated(0.06) | benign(0.011) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| C1orf52 | SNV | Missense_Mutation | novel | c.428N>A | p.Ala143Asp | p.A143D | Q8N6N3 | protein_coding | deleterious(0.01) | possibly_damaging(0.654) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| Page: 1 2 |
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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 |
| Page: 1 |
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