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Gene: C6orf203 |
Gene summary for C6ORF203 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | C6orf203 | Gene ID | 51250 |
| Gene name | mitochondrial transcription rescue factor 1 | |
| Gene Alias | C6orf203 | |
| Cytomap | 6q21 | |
| Gene Type | protein-coding | GO ID | GO:0000959 | UniProtAcc | Q9P0P8 |
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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 |
| 51250 | C6orf203 | SYSMH3 | Human | Oral cavity | OSCC | 9.21e-28 | 6.57e-01 | 0.2442 |
| 51250 | C6orf203 | SYSMH5 | Human | Oral cavity | OSCC | 1.41e-05 | 1.32e-01 | 0.0647 |
| 51250 | C6orf203 | SYSMH6 | Human | Oral cavity | OSCC | 5.13e-06 | 2.51e-01 | 0.1275 |
| 51250 | C6orf203 | PTC01 | Human | Thyroid | PTC | 4.87e-11 | 1.40e-01 | 0.1899 |
| 51250 | C6orf203 | PTC04 | Human | Thyroid | PTC | 1.47e-05 | 8.34e-02 | 0.1927 |
| 51250 | C6orf203 | PTC05 | Human | Thyroid | PTC | 3.44e-10 | 3.13e-01 | 0.2065 |
| 51250 | C6orf203 | PTC06 | Human | Thyroid | PTC | 3.72e-20 | 3.52e-01 | 0.2057 |
| 51250 | C6orf203 | PTC07 | Human | Thyroid | PTC | 1.88e-19 | 3.24e-01 | 0.2044 |
| 51250 | C6orf203 | ATC09 | Human | Thyroid | ATC | 1.60e-03 | 1.38e-01 | 0.2871 |
| 51250 | C6orf203 | ATC12 | Human | Thyroid | ATC | 5.72e-08 | 9.26e-02 | 0.34 |
| 51250 | C6orf203 | ATC13 | Human | Thyroid | ATC | 8.11e-17 | 2.80e-01 | 0.34 |
| 51250 | C6orf203 | ATC1 | Human | Thyroid | ATC | 1.31e-04 | 2.04e-01 | 0.2878 |
| 51250 | C6orf203 | ATC2 | Human | Thyroid | ATC | 6.97e-10 | 6.69e-01 | 0.34 |
| 51250 | C6orf203 | ATC4 | Human | Thyroid | ATC | 3.12e-10 | 1.54e-01 | 0.34 |
| 51250 | C6orf203 | ATC5 | Human | Thyroid | ATC | 3.94e-17 | 3.14e-01 | 0.34 |
| Page: 1 2 3 4 5 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Breast |  | IDC: Invasive ductal carcinoma |
| DCIS: Ductal carcinoma in situ | ||
| Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers | ||
| 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 |
| C6orf203 | SNV | Missense_Mutation | c.472N>A | p.Asp158Asn | p.D158N | protein_coding | tolerated(0.06) | benign(0.222) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD | ||
| C6orf203 | insertion | Nonsense_Mutation | novel | c.596_597insCAGTGACTAAGGTCAGGGCCTTTACTCACCTGCCCCTCCTCT | p.Glu199delinsAspSerAspTerGlyGlnGlyLeuTyrSerProAlaProProLeu | p.E199delinsDSD*GQGLYSPAPPL | protein_coding | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD | |||
| C6orf203 | SNV | Missense_Mutation | c.281N>T | p.Arg94Met | p.R94M | protein_coding | deleterious(0.01) | possibly_damaging(0.482) | TCGA-AA-3663-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | ||
| C6orf203 | SNV | Missense_Mutation | c.442N>T | p.Arg148Trp | p.R148W | protein_coding | deleterious(0.03) | benign(0.031) | TCGA-AA-3864-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | ||
| C6orf203 | SNV | Missense_Mutation | c.437N>A | p.Ser146Tyr | p.S146Y | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR | ||
| C6orf203 | SNV | Missense_Mutation | c.442N>T | p.Arg148Trp | p.R148W | protein_coding | deleterious(0.03) | benign(0.031) | TCGA-CM-4743-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Chemotherapy | capecitabine | SD | ||
| C6orf203 | SNV | Missense_Mutation | novel | c.65N>G | p.Asp22Gly | p.D22G | protein_coding | tolerated(0.19) | benign(0.024) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
| C6orf203 | SNV | Missense_Mutation | c.384G>T | p.Glu128Asp | p.E128D | protein_coding | tolerated(0.1) | benign(0.05) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
| C6orf203 | SNV | Missense_Mutation | novel | c.428N>A | p.Ala143Glu | p.A143E | protein_coding | deleterious(0.05) | benign(0.326) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| C6orf203 | SNV | Missense_Mutation | rs144394567 | c.166C>T | p.Arg56Cys | p.R56C | protein_coding | deleterious(0.03) | benign(0.003) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| Page: 1 2 3 4 |
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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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