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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 | novel | c.1267N>C | p.Asp423His | p.D423H | Q6ZV50 | protein_coding | deleterious(0.01) | probably_damaging(0.999) | TCGA-A7-A3IZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
| RFX8 | SNV | Missense_Mutation | c.685G>C | p.Ala229Pro | p.A229P | Q6ZV50 | protein_coding | tolerated(0.33) | benign(0.006) | TCGA-AN-A0AT-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| RFX8 | SNV | Missense_Mutation | novel | c.199N>T | p.Asp67Tyr | p.D67Y | Q6ZV50 | protein_coding | deleterious(0) | probably_damaging(0.912) | TCGA-BH-A0B6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| RFX8 | insertion | Nonsense_Mutation | novel | c.848_849insAGGAGCTTGAGG | p.Ala283_Ala284insGlyAlaTerGly | p.A283_A284insGA*G | Q6ZV50 | protein_coding | TCGA-A8-A06Q-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | ||
| RFX8 | SNV | Missense_Mutation | novel | c.72G>T | p.Lys24Asn | p.K24N | Q6ZV50 | protein_coding | deleterious(0.01) | probably_damaging(0.998) | TCGA-C5-A7UI-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
| RFX8 | SNV | Missense_Mutation | c.1270N>A | p.Glu424Lys | p.E424K | Q6ZV50 | protein_coding | tolerated(1) | benign(0) | TCGA-A6-5667-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Chemotherapy | oxaliplatin | SD | |
| RFX8 | SNV | Missense_Mutation | c.593N>A | p.Arg198His | p.R198H | Q6ZV50 | protein_coding | tolerated(0.08) | possibly_damaging(0.88) | TCGA-AA-3811-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD | |
| RFX8 | SNV | Missense_Mutation | novel | c.245A>G | p.Asp82Gly | p.D82G | Q6ZV50 | protein_coding | tolerated(0.17) | possibly_damaging(0.613) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
| RFX8 | SNV | Missense_Mutation | novel | c.760N>A | p.Leu254Ile | p.L254I | Q6ZV50 | protein_coding | tolerated(0.83) | benign(0.189) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR |
| RFX8 | SNV | Missense_Mutation | c.561N>T | p.Lys187Asn | p.K187N | Q6ZV50 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AD-6889-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Chemotherapy | xeloda | PD |
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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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