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Gene: RFX8 |
Gene summary for RFX8 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | RFX8 | Gene ID | 731220 |
| Gene name | regulatory factor X8 | |
| Gene Alias | RFX8 | |
| Cytomap | 2q11.2 | |
| Gene Type | protein-coding | GO ID | GO:0006139 | UniProtAcc | Q6ZV50 |
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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 |
| 731220 | RFX8 | ATC12 | Human | Thyroid | ATC | 2.56e-35 | 6.72e-01 | 0.34 |
| 731220 | RFX8 | ATC3 | Human | Thyroid | ATC | 6.43e-04 | 3.22e-01 | 0.338 |
| 731220 | RFX8 | ATC4 | Human | Thyroid | ATC | 1.50e-41 | 8.08e-01 | 0.34 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| 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). |
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| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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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 |
| RFX8 | MSC | Cervix | CC | MMP11,IGFBP3,MMP14, etc. | 5.34e-01 |  |
| ∗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 |
| RFX8 | SNV | Missense_Mutation | c.188C>T | p.Ala63Val | p.A63V | Q6ZV50 | protein_coding | tolerated(0.41) | benign(0.009) | TCGA-AD-A5EJ-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| RFX8 | SNV | Missense_Mutation | c.491C>T | p.Ser164Phe | p.S164F | Q6ZV50 | protein_coding | tolerated(0.13) | probably_damaging(0.967) | TCGA-G4-6298-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | irinotecan | PD | |
| RFX8 | SNV | Missense_Mutation | rs779276390 | c.676N>T | p.Arg226Trp | p.R226W | Q6ZV50 | protein_coding | tolerated(0.19) | benign(0.001) | TCGA-G4-6317-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Chemotherapy | fluorouracil | PD |
| RFX8 | SNV | Missense_Mutation | novel | c.1417N>A | p.Val473Met | p.V473M | Q6ZV50 | protein_coding | tolerated_low_confidence(0.74) | benign(0.009) | TCGA-QG-A5Z2-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
| RFX8 | SNV | Missense_Mutation | novel | c.21N>T | p.Glu7Asp | p.E7D | Q6ZV50 | protein_coding | tolerated(0.16) | benign(0.026) | TCGA-F5-6814-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
| RFX8 | insertion | Frame_Shift_Ins | novel | c.116_117insC | p.Leu40PhefsTer3 | p.L40Ffs*3 | Q6ZV50 | protein_coding | TCGA-CM-5861-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | PD | ||
| RFX8 | SNV | Missense_Mutation | novel | c.887N>T | p.Ala296Val | p.A296V | Q6ZV50 | protein_coding | deleterious(0.03) | possibly_damaging(0.475) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| RFX8 | SNV | Missense_Mutation | c.1304C>A | p.Pro435His | p.P435H | Q6ZV50 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| RFX8 | SNV | Missense_Mutation | c.1392N>G | p.Ile464Met | p.I464M | Q6ZV50 | protein_coding | deleterious_low_confidence(0.01) | benign(0.033) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD | |
| RFX8 | SNV | Missense_Mutation | novel | c.874N>A | p.Leu292Ile | p.L292I | Q6ZV50 | protein_coding | deleterious(0.01) | benign(0.04) | TCGA-B5-A3FA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=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 |
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