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Gene: RRS1 |
Gene summary for RRS1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | RRS1 | Gene ID | 23212 |
| Gene name | ribosome biogenesis regulator 1 homolog | |
| Gene Alias | RRS1 | |
| Cytomap | 8q13.1 | |
| Gene Type | protein-coding | GO ID | GO:0000027 | UniProtAcc | Q15050 |
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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 |
| 23212 | RRS1 | LZE2T | Human | Esophagus | ESCC | 1.14e-05 | 4.11e-01 | 0.082 |
| 23212 | RRS1 | LZE4T | Human | Esophagus | ESCC | 4.09e-07 | 1.85e-01 | 0.0811 |
| 23212 | RRS1 | LZE7T | Human | Esophagus | ESCC | 2.65e-04 | 4.48e-02 | 0.0667 |
| 23212 | RRS1 | LZE8T | Human | Esophagus | ESCC | 5.70e-05 | 3.90e-02 | 0.067 |
| 23212 | RRS1 | LZE24T | Human | Esophagus | ESCC | 1.37e-03 | 1.54e-01 | 0.0596 |
| 23212 | RRS1 | P2T-E | Human | Esophagus | ESCC | 1.64e-12 | 2.29e-01 | 0.1177 |
| 23212 | RRS1 | P4T-E | Human | Esophagus | ESCC | 8.78e-10 | 4.44e-01 | 0.1323 |
| 23212 | RRS1 | P5T-E | Human | Esophagus | ESCC | 7.15e-16 | 3.27e-01 | 0.1327 |
| 23212 | RRS1 | P8T-E | Human | Esophagus | ESCC | 3.95e-09 | 2.87e-02 | 0.0889 |
| 23212 | RRS1 | P9T-E | Human | Esophagus | ESCC | 3.41e-10 | 2.79e-01 | 0.1131 |
| 23212 | RRS1 | P10T-E | Human | Esophagus | ESCC | 2.81e-10 | 2.00e-01 | 0.116 |
| 23212 | RRS1 | P11T-E | Human | Esophagus | ESCC | 2.67e-03 | 5.34e-01 | 0.1426 |
| 23212 | RRS1 | P12T-E | Human | Esophagus | ESCC | 1.15e-16 | 2.89e-01 | 0.1122 |
| 23212 | RRS1 | P15T-E | Human | Esophagus | ESCC | 4.52e-16 | 4.66e-01 | 0.1149 |
| 23212 | RRS1 | P16T-E | Human | Esophagus | ESCC | 1.48e-16 | 5.65e-01 | 0.1153 |
| 23212 | RRS1 | P17T-E | Human | Esophagus | ESCC | 7.37e-03 | 3.59e-01 | 0.1278 |
| 23212 | RRS1 | P20T-E | Human | Esophagus | ESCC | 1.37e-15 | 3.72e-01 | 0.1124 |
| 23212 | RRS1 | P21T-E | Human | Esophagus | ESCC | 3.70e-22 | 6.37e-01 | 0.1617 |
| 23212 | RRS1 | P22T-E | Human | Esophagus | ESCC | 7.54e-25 | 4.21e-01 | 0.1236 |
| 23212 | RRS1 | P23T-E | Human | Esophagus | ESCC | 9.72e-27 | 7.82e-01 | 0.108 |
| Page: 1 2 3 4 5 |
| 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 | ||
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ | ||
| 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 |
| GO:001607210 | Oral cavity | OSCC | rRNA metabolic process | 176/7305 | 236/18723 | 6.51e-29 | 3.24e-26 | 176 |
| GO:000691317 | Oral cavity | OSCC | nucleocytoplasmic transport | 204/7305 | 301/18723 | 2.65e-24 | 6.98e-22 | 204 |
| GO:005116917 | Oral cavity | OSCC | nuclear transport | 204/7305 | 301/18723 | 2.65e-24 | 6.98e-22 | 204 |
| GO:00346605 | Oral cavity | OSCC | ncRNA metabolic process | 296/7305 | 485/18723 | 2.94e-23 | 6.65e-21 | 296 |
| GO:003450415 | Oral cavity | OSCC | protein localization to nucleus | 193/7305 | 290/18723 | 1.22e-21 | 2.35e-19 | 193 |
| GO:01400145 | Oral cavity | OSCC | mitotic nuclear division | 191/7305 | 287/18723 | 1.99e-21 | 3.70e-19 | 191 |
| GO:005165610 | Oral cavity | OSCC | establishment of organelle localization | 239/7305 | 390/18723 | 2.46e-19 | 3.31e-17 | 239 |
| GO:007182620 | Oral cavity | OSCC | ribonucleoprotein complex subunit organization | 152/7305 | 227/18723 | 1.05e-17 | 1.01e-15 | 152 |
| GO:005116817 | Oral cavity | OSCC | nuclear export | 112/7305 | 154/18723 | 1.70e-17 | 1.56e-15 | 112 |
| GO:004227420 | Oral cavity | OSCC | ribosomal small subunit biogenesis | 63/7305 | 73/18723 | 7.61e-17 | 6.34e-15 | 63 |
| GO:002261820 | Oral cavity | OSCC | ribonucleoprotein complex assembly | 146/7305 | 220/18723 | 1.53e-16 | 1.23e-14 | 146 |
| GO:00000702 | Oral cavity | OSCC | mitotic sister chromatid segregation | 118/7305 | 168/18723 | 1.89e-16 | 1.48e-14 | 118 |
| GO:00008193 | Oral cavity | OSCC | sister chromatid segregation | 135/7305 | 202/18723 | 8.88e-16 | 6.52e-14 | 135 |
| GO:004227320 | Oral cavity | OSCC | ribosomal large subunit biogenesis | 61/7305 | 72/18723 | 1.52e-15 | 1.06e-13 | 61 |
| GO:00070592 | Oral cavity | OSCC | chromosome segregation | 206/7305 | 346/18723 | 5.82e-15 | 3.76e-13 | 206 |
| GO:00482852 | Oral cavity | OSCC | organelle fission | 265/7305 | 488/18723 | 3.22e-12 | 1.27e-10 | 265 |
| GO:007233120 | Oral cavity | OSCC | signal transduction by p53 class mediator | 107/7305 | 163/18723 | 4.75e-12 | 1.83e-10 | 107 |
| GO:00711664 | Oral cavity | OSCC | ribonucleoprotein complex localization | 59/7305 | 77/18723 | 1.91e-11 | 6.57e-10 | 59 |
| GO:00714264 | Oral cavity | OSCC | ribonucleoprotein complex export from nucleus | 58/7305 | 76/18723 | 3.78e-11 | 1.23e-09 | 58 |
| GO:004225520 | Oral cavity | OSCC | ribosome assembly | 49/7305 | 61/18723 | 4.73e-11 | 1.50e-09 | 49 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 |
| 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 |
| 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 |
| RRS1 | SNV | Missense_Mutation | c.49N>A | p.Glu17Lys | p.E17K | Q15050 | protein_coding | tolerated(0.21) | benign(0.359) | TCGA-GM-A2D9-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD | |
| RRS1 | SNV | Missense_Mutation | c.854N>T | p.Thr285Ile | p.T285I | Q15050 | protein_coding | tolerated(0.08) | possibly_damaging(0.597) | TCGA-D5-6928-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
| RRS1 | deletion | Frame_Shift_Del | c.140delC | p.Pro47ArgfsTer42 | p.P47Rfs*42 | Q15050 | protein_coding | TCGA-D5-6540-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |||
| RRS1 | deletion | Frame_Shift_Del | c.135delN | p.Pro47ArgfsTer42 | p.P47Rfs*42 | Q15050 | protein_coding | TCGA-G4-6588-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |||
| RRS1 | deletion | Frame_Shift_Del | c.135delN | p.Pro47ArgfsTer42 | p.P47Rfs*42 | Q15050 | protein_coding | TCGA-WS-AB45-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |||
| RRS1 | SNV | Missense_Mutation | novel | c.410N>A | p.Ser137Asn | p.S137N | Q15050 | protein_coding | tolerated(0.53) | benign(0.046) | TCGA-AJ-A3EK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
| RRS1 | SNV | Missense_Mutation | novel | c.1031C>T | p.Ser344Phe | p.S344F | Q15050 | protein_coding | deleterious_low_confidence(0.02) | benign(0.062) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| RRS1 | SNV | Missense_Mutation | novel | c.247N>T | p.Arg83Cys | p.R83C | Q15050 | protein_coding | deleterious(0) | possibly_damaging(0.825) | TCGA-AX-A3FS-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| RRS1 | SNV | Missense_Mutation | novel | c.470T>G | p.Leu157Arg | p.L157R | Q15050 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
| RRS1 | SNV | Missense_Mutation | rs775749259 | c.1031C>A | p.Ser344Tyr | p.S344Y | Q15050 | protein_coding | deleterious_low_confidence(0.02) | benign(0.062) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | 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 |
| Page: 1 |
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